Search results for "Normal"
showing 10 items of 2571 documents
Optical Coherence Tomography Angiography of Optic Disc in Eyes With Primary Open-angle Glaucoma and Normal-tension Glaucoma.
2019
PURPOSE To examine vessel density (VD) properties of the optic nerve head in eyes with ocular hypertension (OHT), high-tension glaucoma (HTG), and normal-tension glaucoma (NTG) and to evaluate associations on structural parameters of retinal nerve fiber layer (RNFL). METHODS Three groups of patients with OHT (n=15), HTG (n=36), and NTG (n=22), and a healthy control group (n=23) were included in this study. Peripapillary VD and optic disc flow area were measured using optical coherence tomography angiography, and peripapillary RNFL (pRNFL) thickness was determined. Global and sectoral analysis of optic nerve head vasculature and pRNFL thickness were measured. RESULTS Glaucomatous eyes had lo…
X-inactivation pattern in three cases of X/autosome translocation.
1978
We describe an X/15 translocation which was balanced in a phenotypically normal mother [46,X,t(X;15)(p22;q15)] and unbalanced in her phenotypically abnormal daughter [46,X,der(X),t(X;15)(p22;q15)mat]. A third case involves a balanced X/21 translocation in a girl with a multiple congenital anomaly-retardation syndrome [46,X,t(X;21)(p11;p11?)]. 5-BrdU acridine orange banding on lymphocytes revealed late replication of the normal X chromosome in the mother and of the normal or abnormal X chromosome in the two other cases. Our findings are only partially consistent with previous observations. All X-inactivation patterns can be explained by random inactivation and subsequent selection against sp…
Low-Carbohydrate High-Fat Diet and Exercise: Effect of a 10-Week Intervention on Body Composition and CVD Risk Factors in Overweight and Obese Women—…
2020
We assessed the effect of weight-loss induced with a low-carbohydrate-high-fat diet with and without exercise, on body-composition, cardiorespiratory fitness and cardiovascular risk factors. A total of 57 overweight and obese women (age 40 ±
Tuberous sclerosis complex with oral manifestations: A case report and literature review
2011
Introduction: Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome produced by a number of genetic mutations. The disease is characterized by the development of benign tumors affecting different body systems. The most common oral manifestations of TSC are fibromas, gingival hyperplasia and enamel hypoplasia. Clinical Case: A 35-year-old woman diagnosed with TSC presented with a reactive fibroma of considerable size and rapid growth in the region of the right lower third molar. Discussion: In the present case the association of TSC with dental malpositioning gave rise to a rapidly evolving reactive fibroma of considerable diameter. Few similar cases can be found in the literature. P…
Congenital hepatic mesenchymal hamartoma associated with mesenchymal stem villous hyperplasia of the placenta: case report.
2005
A newborn with an unusual association of hepatic mesenchymal hamartoma and mesenchymal stem villous hyperplasia of the placenta is presented. At birth, the large hepatic mass caused severe respiratory distress necessitating early surgical intervention. This report on the association of hepatic mesenchymal hamartoma and mesenchymal stem villous hyperplasia of the placenta strongly suggests a common pathogenetic origin of the 2 lesions.
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…
Early auditory evoked potentials: developmental aspects and validity in neuropaediatric and audiologic disorders.
1984
Auditory evoked potentials and in this context especially five waves in the first 10 ms (early auditory evoked potentials = EAEP) are a diagnostic aid in topodiagnosis of posterior fossa diseases. This is due to waves I to V which arise along the acoustic nerve and in brain stem structures such as medulla, pons and mid-brain. Besides an indication about the site of a lesion in the posterior fossa, wave V allows an objective threshold determination. The present results were gained in normal children aged 1-3 years and in children with neuropaediatric and audiologic disorders.