Search results for "abnormal"

Cancers in Patients with von Willebrand Disease: A Survey from the Italian Association of Haemophilia Centres

2015

Besides its essential role in hemostasis, there is growing evidence that von Willebrand factor (VWF) has an additional antitumor effect. To elucidate the clinical significance of this biological activity we conducted a retrospective study on cancers among Italian patients with von Willebrand disease (VWD) on behalf of the Italian Association of Haemophilia Centres (AICE). A questionnaire to collect demographic, clinical, and treatment data of VWD patients with cancer was sent to all the 54 Italian Haemophilia Treatment Centres (HTCs) members of AICE. Overall, 18 HTCs (33%) provided information on 92 VWD patients (61 alive and 31 deceased) with 106 cancers collected during the period 1981 to…

Scheie syndrome: enzyme replacement therapy does not prevent progression of cervical myelopathy due to spinal cord compression.

2009

Hurler-Scheie syndrome is caused by alpha-l-iduronidase deficiency. Enzyme replacement therapy (ERT) can improve physical capacity and reduces organomegaly. However, the effect on bradytrophic connective tissue is limited. As intravenously administered enzyme cannot cross the blood-brain barrier, the therapy of choice for the more severe Hurler syndrome is haematopoietic stem cell transplantation (HCT). In the more attenuated Scheie syndrome, neurological impairment is less severe; therefore, ERT may be appropriate to treat these patients. Information on long-term outcome in Scheie patients undergoing ERT is scarce. We report a 38-year-old female Scheie patient who has been on ERT for 8 yea…

Optic disc drusen in tilted disc

2017

Purpose To investigate if a congenital anomaly of the head of the optic nerve like such as tilted disc can be a risk factor for the development of optic disc drusen. Methods The study was performed retrospectively on the files of 47 patients with optic disc drusen. The diagnosis was confirmed by fluorescein angiography and B-scan ultrasonography. The authors examined the fundus photographs and the fluorescein angiographies of these patients looking for the presence of tilted discs. Results Two of the 47 patients with optic nerve drusen had tilted discs as well, about twice the expected rate. Both cases presented a parapapillary hemorrhage. Conclusions The concomitant presence of tilted disc…

One uterus bridging three generations: first live birth after mother-to-daughter uterus transplantation

2016

Objective To determine whether a uterus from the mother of a woman with absolute uterine factor infertility can be transplanted to daughter and carry a pregnancy with delivery of a healthy child. Design Part of an observational study. Setting University teaching hospital. Patient(s) Twenty eight-year-old woman with uterine agenesis, her male partner, and her 50-year-old mother. Intervention(s) In vitro fertilization with embryo cryopreservation before live donor uterus transplantation (UTx). Induction immunosuppression. Embryo transfer 12 months after UTx, pregnancy controls, delivery, and hysterectomy. Main Outcome Measure(s) Results of IVF-ET, parameters of pregnancy/birth, and surgical d…

Experts' assessment of probability and level of pesticide exposure in agricultural workers.

2000

The occupational history of the parents of 261 infants with congenital malformations and 261 matched controls was collected. During the relevant time period before the birth of their child, 183 parents were involved in agricultural activities, 49% of them having directly applied pesticides. Two experts assessed the probability and the level of exposure to each quoted pesticide (582 observations) by using 4-point scales. Interrater agreement was estimated. Kappa-weighted values for probability and level of exposure were, respectively, kappa = 0.36 and kappa = 0.39. In the analysis of some categories of exposure (non-applicators, herbicides) very low interrater agreement was observed. In epid…

Early detection of embryonic malformations by transvaginal and color Doppler sonography.

1994

A total of 834 women with uneventful pregnancies were followed prospectively until the 15th week of gestation by TVS to screen for early embryonic malformations. Twenty-eight embryonic anomalies were detected in this series (3.3%). The median gestational age at diagnosis was 11 (range, 8 to 15) weeks. Two neural tube defects were missed by early TVS screening. Two suspected abdominal wall defects were not confirmed by repeat mid-second trimester abdominal sonography representing 6.7% of all fetal malformations evident by 24 weeks of gestation. The sensitivity and specificity of TVS screening for fetal malformations in this series were 93.3 and 99.7%, respectively. In addition, the role of T…

A further patient with genitopatellar syndrome requiring multidisciplinary management.

2020

Bickerstaff brainstem encephalitis. A case report

1992

A 33-year-old woman three weeks after a febrile illness presented with a syndrome of ophthalmoplegia, ataxia and areflexia (SOAA) that characterizes clinically both Bickerstaff and Miller Fisher syndromes. The normality of the electrophysiological tests performed, the CSF findings and the magnetic resonance images proved that the syndrome stemmed from brainstem pathology.

Hospital work and pregnancy outcomes: a study in the Danish National Birth Cohort

2009

Udgivelsesdato: null-null In hospitals, women of reproductive age do a range of work tasks, some of which are known to carry potential risks. Tasks such as working with radiation, chemicals, and infectious agents, as well as performing heavy lifting or tasks requiring erratic sleep patterns have been reported to increase the risk of reproductive failures. Our aim was to study pregnancy outcomes in female hospital workers in Denmark. We performed a cohort study of 5976 female hospital workers and used as a reference group 60,890 women employed outside of hospitals. The reproductive health of hospital workers working during pregnancy is comparable to those of non-hospital workers for the majo…

Female pelvic congenital malformations. Part I: embryology, anatomy and surgical treatment.

2011

This review covers the most important female congenital pelvic malformations. The first part focuses on the embryological development of the urogenital and anorectal apparatus, morphological features, and the diagnostic and surgical approach to abnormalities. Comprehension of the embryological development of the urogenital and anorectal apparatus is essential to understand the morphology of congenital pelvic abnormalities and their surgical treatment. Congenital pelvic malformations are characterized by specific common features; the severity of which often subverts the pelvic morphology completely and makes it difficult to comprehend before surgery. The development of imaging, mainly magnet…