Search results for "Mali"
showing 10 items of 3900 documents
Severe chronic spontaneous urticaria in children – treatment options according to the guidelines and beyond – a 10 years review
2020
This is a retrospective study of 18 children with chronic spontaneous urticaria (CSU), where standard therapies, including up-dosing of antihistamines and omalizumab, were unable to cure the disease and where alternative strategies with experimental and off-label medication had to be used. Being aware that our questionnaire is validated only for elder children or adults, we utilized the UAS7 to monitor disease control with the help of the parents. The UAS7 score decreased from a mean of 25 to an average of 13 after 8 weeks of therapy in 13 patients. Five patients had no significant reduction of UAS7 by week 8. In two of five patients, where periodic improvement was seen, omalizumab therapy …
Omalizumab (Xolair®) improves quality of life in adult patients with allergic asthma: a review
2003
Abstract Physicians are increasingly aware that asthma causes significant impairment of the patient's physical, psychological, and social well-being. Whilst standard clinical endpoints provide significant information on airway status during treatment, it is important to determine whether such improvements overcome the functional impairment that patients have to deal with on a daily basis. As such, assessment of health-related quality of life (QoL) is an important aspect of asthma management in clinical practice. Omalizumab (Xolair ® ) is a recombinant humanized monoclonal anti-immunoglobulin E (IgE) antibody that represents a new therapeutic approach to IgE-mediated diseases such as allergi…
Ovarian Endometrioid-like Yolk Sac Tumor Treated by Surgery Alone, with Recurrence at 12 Years
1999
Abstract We describe the case of a stage Ia endometrioid-like yolk sac tumor (YST) of the ovary, which was originally misdiagnosed as a malignant struma ovarii and not treated with adjuvant chemotherapy. After 12 years, a contralateral dermoid cyst was excised along with a small omental nodule of partially necrotic and calcified endometrioid-like YST. No tumor was detected in several other biopsy specimens, and a peritoneal lavage was negative for tumor cells. Since there was no evidence of remaining tumor and the serum α-fetoprotein (AFP) level was normal after the second operation, the patient was followed. Serial serum AFP levels remained normal for 4 months. At a second-look laparotomy …
Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation.
2010
We report a female newborn, diagnosed with fetal akinesia in utero, who died one hour after birth. Post-mortem muscle biopsy demonstrated actin-filament myopathy based on immunolabelling for sarcomeric actin, and large areas of filaments, without rod formation, ultrastructurally. Analysis of DNA extracted from the muscle disclosed a novel de novo heterozygous c.44G>A, GGC>GAC, 'p.Gly15Asp' mutation in the ACTA1 gene. Analysis of the location of the mutated amino-acid in the actin molecule suggests the mutation most likely causes abnormal nucleotide binding, and consequent pathological actin polymerization. This case emphasizes the association of fetal akinesia with actin-filament myopathy.
Post-transplant cyclophosphamide and sirolimus based graft-versus-host disease prophylaxis after allogeneic stem cell transplantation for acute myelo…
2022
Post-transplant cyclophosphamide (PTCy) has emerged as a promising graft-versus-host disease (GvHD) prophylaxis in allogeneic hematopoietic stem cell transplantation (allo-HSCT). However, no studies have reported the efficacy of a GvHD prophylaxis based on PTCy with sirolimus (Sir-PTCy) in patients with acute myeloid leukemia (AML). In this retrospective study, we analyze the use of sirolimus in combination with PTCy, with or without mycophenolate mofetil (MMF), on 242 consecutive adult patients with AML undergoing a myeloablative first allo-HSCT from different donor types, in three European centers between January 2017 and December 2020. Seventy-seven (32%) patients received allo-HSCT from…
Three-dimensional ultrasound evaluation of ovarian masses.
1995
Seventy-six women with ovarian masses first detected with two-dimensional (2D) ultrasound were then evaluated with three-dimensional (3D) ultrasound. Two-dimensional ultrasound detected four of five ovarian malignancies. One additional ovarian carcinoma was diagnosed by 3D scanning. Observation of papillary projections, characteristics of cystic walls, and the extent of capsular infiltration of tumors was superior with 3D ultrasound as was the calculation of ovarian volume. Fifty-seven of the women studied underwent surgery within 7 days of 3D ultrasound evaluation. Histologic examination of surgical specimens confirmed the 3D sonographic diagnoses. There was one false positive and one fals…
Primary cutaneous lymphomas in children: A prospective study from the Spanish Academy of Dermatology and Venereology (AEDV) Primary Cutaneous Lymphom…
2021
Background/Objectives Primary cutaneous lymphomas are rare in pediatric patients. The clinical and histopathological manifestations may differ from those in adults. Due to their low frequency and the insidious clinical picture, the diagnosis is usually delayed. The Spanish Primary Cutaneous Lymphoma Registry was initiated in 2016 as a multicenter registry that would allow better insight into the epidemiological, clinical, histopathological, and treatment response characteristics of patients with primary cutaneous lymphomas. Methods We conducted a prospective observational cohort study of primary cutaneous lymphomas in pediatric patients participating in the Spanish Academy of Dermatology an…
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…
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.