RESUMO
Thrombotic events in congenital hypo-afibrinogenemia have been rarely reported, either in association or not with replacement therapy or thrombotic risk factors. We describe clinical findings and management of thrombosis of abdominal aorta with peripheral embolism in a patient with congenital afibrinogenemia. A review of arterial thrombosis in inherited hypo-afibrinogenemia was also performed. The patient with a severe bleeding history requiring prophylaxis with fibrinogen concentrates (FC) was admitted for ischaemia of the 4th right toe. An angio-CT of abdominal aorta showed a thrombosis from the origin of renal arteries to the carrefour with a distal floating part. No thrombotic risk factors were found; a previous traumatic lesion of aortic wall might have triggered the thrombus formation, whereas the role of FC prophylaxis remains uncertain. The patient was successfully treated with FC, enoxaparin followed by fondaparinux, and low-dose aspirin without bleeding or thrombosis recurrence. After 2 years, aortic thrombus was almost completely recovered. Sixteen hypo/afibrinogenemia patients with arterial thrombosis were found in Literature, showing that thrombosis often occurs at a young age, involves large vessels, its recurrence is not unusual, and therapeutic strategy is not defined yet. Our therapeutic approach was effective and also safe, but further studies are needed to improve the knowledge of pathogenesis and the anti-thrombotic management in this peculiar setting.
Assuntos
Afibrinogenemia/congênito , Aorta Abdominal/anormalidades , Hemorragia/tratamento farmacológico , Trombose/etiologia , Afibrinogenemia/complicações , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
A patient with combined factor V and factor VII deficiency is described together with a family study. The propositus appeared to be double heterozygous for factor V and factor VII deficiency. Since the patient showed a parallel decrease of activity and antigen, he appeared to be double heterozygous for a true deficiency. The patient had inherited the factor V defect from the mother and the factor VII defect from the father. The parents of the propositus were not consanguineous. Other family members were found to have isolated factor V or factor VII deficiency. This is the third family so far described with this peculiar combined defect but the first to be investigated by clotting and immunologic assays.
Assuntos
Deficiência do Fator V/genética , Deficiência do Fator VII/genética , Adolescente , Antígenos/sangue , Testes de Coagulação Sanguínea , Segregação de Cromossomos , Fator V/imunologia , Fator V/metabolismo , Fator VII/imunologia , Fator VII/metabolismo , Saúde da Família , Heterozigoto , Humanos , Masculino , Mutação , Linhagem , Tempo de ProtrombinaRESUMO
Two hundred forty women were studied, who underwent symptomatological anamnesis, clinical examination and urodynamic investigations for female urinary incontinence. Our aim was to distinguish among the three main forms of incontinence (stress, urge and mixed incontinence). When only symptomatological anamnesis is considered, there is an incidence of error in nearly a third of the cases and, when further factors like menopause, prolapse and parity are considered, the incidence of error does not reduce. A correct diagnosis can be determined only by a combined use of clinical assessment and urodynamic investigations. (As regards clinical examination, a positive stress test leads to a diagnosis of stress incontinence. As regards urodynamic investigations a cystometry positive for instability of the detrusor muscle leads to a diagnosis of urge incontinence. If both clinical examination and urodynamic investigations are positive, the diagnosis is of mixed incontinence.) Our findings suggest that routinely it is sufficient to execute only cystometry among urodynamic investigations.
Assuntos
Incontinência Urinária por Estresse/diagnóstico , Adulto , Feminino , Humanos , Manometria , Menopausa/fisiologia , Pessoa de Meia-Idade , Sensibilidade e Especificidade , Bexiga Urinária/fisiopatologia , Incontinência Urinária por Estresse/classificação , Incontinência Urinária por Estresse/etiologia , Incontinência Urinária por Estresse/fisiopatologia , Urodinâmica , Prolapso Uterino/complicações , Prolapso Uterino/diagnóstico , Prolapso Uterino/fisiopatologiaRESUMO
Since the initial observation of an association between low maternal serum aFP and trisomies noninvasive for chromosomal abnormalities is an obvious goal of genetics and obstetricians. Here are reported the results of a biochemical screening for fetal trisomies study based on the dosages of maternal serum aFP, bHCG and uE3 at 16 week gestational age on 1166 pregnant women without risk factors for genetical abnormalities. Sensitivity, positive predictivity and negative predictivity of the screening were 50%, 42.86% and 99.74% respectively.
Assuntos
Síndrome de Down/sangue , Doenças Fetais/sangue , Adulto , Biomarcadores/sangue , Gonadotropina Coriônica/sangue , Síndrome de Down/diagnóstico por imagem , Estriol/sangue , Feminino , Doenças Fetais/diagnóstico por imagem , Humanos , Gravidez , Segundo Trimestre da Gravidez , Estudos Prospectivos , Ultrassonografia Pré-Natal , alfa-Fetoproteínas/análiseRESUMO
In pediatric gynecology, inflammatory vulvo-vaginitis are very common. Their diagnosis cannot be based either on the symptoms (itching or pain) or on the signs (leucoxanthorrhea) for these classifications are "non-specific". At the Consulting Room of pediatric gynecology of the Vittore Buzzi Hospital, 215 "non-specific" vulvo-vaginitis cases have been analyzed through bacteriological and microscopical examinations of vaginal secretions. The vaginal tampon resulted negative in 53% of the cases and positive in the remaining 47%. Comparing these results with microscopical examinations we obtain: 81.8% of sensibility, 77.4% of specificity, 87.8% of negative predictive value and 62.2% of positive predictive value. In particular, this last figure is influenced by the high number of false positives of the vaginal tampons, due to the growth "in vitro" of opportunist germs momentarily quiescent "in vivo". Thus it is useful to associated the microscopical examination (that will indicate all the cases in need of treatment) and the bacteriological examination (that will indicate the right cure).
Assuntos
Vulvovaginite/diagnóstico , Adolescente , Criança , Pré-Escolar , Escherichia coli/isolamento & purificação , Feminino , Humanos , Lactente , Recém-Nascido , Valor Preditivo dos Testes , Prevalência , Streptococcus/isolamento & purificação , Vagina/microbiologia , Vulvovaginite/microbiologiaRESUMO
Our case report describes three conceptions after transperitoneal migration of the ovum in a woman with only one ovary, the contralateral oviduct, and extensive postoperative pelvic adhesions obliterating the Douglas cul-de-sac. This suggests that anatomic integrity of the pelvis is not always essential for ovum pick-up.
Assuntos
Óvulo/fisiologia , Pelve , Adulto , Movimento Celular , Feminino , Humanos , Aderências Teciduais/patologia , Aderências Teciduais/fisiopatologiaRESUMO
We evaluated the efficacy of cabergoline, a new ergoline derivative, in blocking puerperal lactation in a group of women delivered by cesarean section. In a single-blind controlled trial 36 women were randomly allocated to treatment with cabergoline 1 mg in a single dose p.o. (n = 18) or bromocriptine 5 mg/day p.o. for 14 days (n = 18). Treatment was started about 50 h after delivery. Clinical assessment of breast signs and determination of serum prolactin were performed just before treatment and at 3, 5, 7 and 14 days. In the cabergoline-treated group milk secretion was inhibited in 17 women (94.4%). Maximum decrease of serum prolactin was -89.7% at 5 days, and the prolactin-lowering effect of cabergoline was still present at 14 days. In the bromocriptine group milk secretion was inhibited in 16 women (88.9%). Maximum prolactin decrease (-86.9%) was reached at 3 days. Persistent side effects were comparable in the two groups. This study demonstrates that a single oral dose of 1 mg cabergoline is as effective in suppressing puerperal lactation as a full treatment with bromocriptine, even in women delivered by cesarean section.