1/8. A family with complement factor d deficiency.A complement factor d deficiency was found in a young woman who had experienced a serious neisseria meningitidis infection, in a deceased family member with a history of meningitis, and in three relatives without a history of serious infections. The patient and these three relatives showed a normal activity of the classical complement pathway, but a very low activity of the alternative complement pathway and a very low capacity to opsonize escherichia coli and N. meningitidis (isolated from the patient) for phagocytosis by normal human neutrophils. The alternative pathway-dependent hemolytic activity and the opsonizing capacity of these sera were restored by addition of purified factor D. The family had a high degree of consanguinity, and several other family members exhibited decreased levels of factor D. The gene encoding factor D was found to contain a point mutation that changed the TCG codon for serine 42 into a TAG stop codon. This mutation was found in both alleles of the five completely factor D-deficient family members and in one allele of 21 other members of the same family who had decreased or low-normal factor D levels in their serum. The gene sequence of the signal peptide of human factor D was also identified. Our report is the first, to our knowledge, to document a Factor D gene mutation. The mode of inheritance of factor D deficiency is autosomal recessive, in accordance with the localization of the Factor D gene on chromosome 19. Increased susceptibility for infections in individuals with a partial factor D deficiency is unlikely.- - - - - - - - - - ranking = 1keywords = family (Clic here for more details about this article) |
2/8. Penetrating ocular injury caused by venomous snakebite.PURPOSE: To report the case of a patient who experienced a penetrating ocular injury with direct intraocular injection of venom from a snakebite. DESIGN: Case report. methods: A 34-year-old man was bitten by a snake on his right eye. The snake was identified as Deinagkistrodon acutus. Antivenom was provided, but facial swelling, periorbital ecchymoses, massive subconjunctival hemorrhage, severe corneal edema, and exophthalmos of the right eye were noted. dyspnea due to airway edema then developed. RESULTS: He received emergent intubation. Evisceration was performed, and a continuously active bleeding scleral wound was found. No local infection developed under systemic and topical antibiotics. Pathologic examination of the excised cornea showed necrosis on the endothelial side. CONCLUSIONS: Early evisceration was the treatment of choice for treatment of a penetrating ocular injury caused by venomous snakebite. Maintaining stable life signs and prevention of infection remained the major concerns.- - - - - - - - - - ranking = 0.00052966558536344keywords = life (Clic here for more details about this article) |
3/8. Acute promyelocytic leukemia: an unusual cause of fatal secondary postpartum hemorrhage.INTRODUCTION: Postpartum haemorrhage can rarely be associated with an underlying coagulation or haematological disorder. We wish to discuss a case of acute promyelocytic leukemia (APL) presenting as secondary postpartum hemorrhage (PPH), its clinical and pathological features and maternal outcome. CASE REPORT: We describe a 28-year-old woman who presented with secondary PPH accompanied by bleeding from gums, marked pallor, hematemesis, ecchymotic and purpuric spots all over the body, 8 days post-partum. Investigations revealed her to be having APL, a diagnosis not suspected by the referring clinic. She was given supportive therapy but died before chemotherapy could be started. CONCLUSION: The case emphasizes the importance of suspecting, investigating and energetically treating uncommon causes such as acute leukemia when an unusually severe clinical picture in a postpartum setting suggests such a possibility. This may prove to be life saving, particularly if the leukemia happens to be APL, a cancer with a very high cure rate.- - - - - - - - - - ranking = 0.00052966558536344keywords = life (Clic here for more details about this article) |
4/8. Fibrinolytic study in a homozygous protein C deficient patient.The fibrinolytic system was evaluated in a patient with homozygous protein c deficiency as well as in several members of his family with a partial deficiency of this protein. Before anticoagulant therapy the patient showed skin lesions which quickly disappeared after administration of fresh plasma. After anticoagulant treatment, the propositus suffered two clinical episodes of "ecchymotic" lesions, which were controlled with fresh plasma. The patient has remained free of new lesions and other clinical episodes up to the present date. The fibrinolytic activity of both the propositus and his family was normal. The patient's father showed adequate release of tissue plasminogen activator after controlled physical exercise. According to clinical and analytical data from our patient and his family, it is suggested that, in spite of the preservation of the fibrinolytic system in this case, a localized deficiency in fibrinolysis could exist in view of the clinical behaviour of the skin lesions described.- - - - - - - - - - ranking = 0.33333333333333keywords = family (Clic here for more details about this article) |
5/8. Psychogenic purpura in adolescent patients.The occurrence of psychogenic purpura has been documented in adults. The authors present their experience with nine adolescent and young adult patients observed since 1981. The age of eight of these patients ranged from 13 to 18 years. One patient with cystic fibrosis was 23-years-old. All patients presented with painful inflammatory lesions followed by bruising. There was no evidence of an infectious process or a hematologic, immunologic, or renal abnormality. Integral to the diagnosis was the existence of an underlying emotional disorder. In all patients, bruising decreased after diagnosis was explained to the patient and family. Four patients required psychotherapy. Results of 2-year follow-up suggest that early intervention may produce a favorable outcome in this age group.- - - - - - - - - - ranking = 0.11111111111111keywords = family (Clic here for more details about this article) |
6/8. airway obstruction due to spontaneous retropharyngeal hemorrhage.A patient is described with polycythemia vera who was taking anticoagulants and developed a spontaneous retropharyngeal hemorrhage after a violent sneezing episode. This progressed to tracheal compression with stridor after he had taken some aspirin for relief of the neck pain. An emergency tracheostomy was life saving.- - - - - - - - - - ranking = 0.00052966558536344keywords = life (Clic here for more details about this article) |
7/8. Severe inherited "homozygous" protein c deficiency in a newborn infant.A relapsing clinical syndrome of skin lesions and disseminated intravascular coagulation (DIC) that showed remission with the infusion of fresh frozen plasma is described in a newborn infant with homozygous deficiency of protein C antigen. This patient presented since birth a recurrent clinical picture of DIC and ecchymotic skin lesions that resembled typical ecchymosis except for the fact that they showed immediate improvement with the administration of fresh frozen plasma. Using an enzyme linked immunosorbent assay method, the determination of protein C antigen levels in the patient, without ingestion of coumarin drugs, showed very low values (less than 1%). No other deficiencies in the vitamin-K-dependent factors or in antithrombin iii, antiplasmin, and plasminogen were found. Seven relatives of the infant had heterozygous deficiency in protein C antigen (values between 40-55%), without clinical history of venous thrombosis. The pedigree analysis of this family suggests an autosomal recessive pattern of inheritance for the clinical phenotype, although an autosomal dominant pattern has been postulated until now in other reported families. We conclude that our patient has a homozygous deficiency in protein C and this homozygous state may be compatible with survival beyond the neonatal period.- - - - - - - - - - ranking = 0.11111111111111keywords = family (Clic here for more details about this article) |
8/8. Alpha2-plasmin-inhibitor deficiency (Miyasato disease).A 25-year-old man, born in Okinawa, japan, had a haemorrhagic diathesis characterised by prolonged bleeding and ecchymoses after minor trauma and spontaneous joint haemorrhage. The frequency and severity of these episodes were reduced by an antiplasminic drug. Routine coagulation studies revealed no abnormalities except for significantly sshortened euglobulin-lysis time and whole-blood clot lysis time. Activities of all known clotting and fibrinolytic factors were within normal ranges but no circulating alpha2-plasmin inhibitor was found in the plasma. alpha2-plasmin inhibitor is a potent and fast-acting protease inhibitor. Studies of family members indicated that this abnormality was inherited as an autosomal and recessive gene.- - - - - - - - - - ranking = 0.11111111111111keywords = family (Clic here for more details about this article) |