Search results for "ABNORMALITIES"
showing 10 items of 638 documents
Duration of untreated psychosis and its correlates in first-episode psychosis in Finland and Spain
2002
Kalla O, Aaltonen J, Wahlstrom J, Lehtinen V, Garcia Cabeza I, Gonzalez de Chavez M. Duration of untreated psychosis and its correlates in first-episode psychosis in Finland and Spain. Acta Psychiatr Scand 2002: 106: 265–275. © Blackwell Munksgaard 2002. Objective: To examine the association of duration of untreated psychosis (DUP) with early course characteristics in first-episode psychosis in Finland and Spain. Method: Eighty-six patients from Finland (49) and Spain (37) were evaluated on various early course characteristics. Results: The mean value of DUP was 4.0 months (median 2 months) for the Finnish patients and 9.9 months (median 2 months) for the Spanish ones. In both groups, long …
Systemic therapies for mucopolysaccharidosis: ocular changes following haematopoietic stem cell transplantation or enzyme replacement therapy - a rev…
2010
The management of mucopolysaccharidosis (MPS) is focused on the multi-organ, sometimes life-threatening, clinical manifestations that occur over time. In the past, the limited, symptom-based treatment options led physicians to adopt a palliative approach towards individual disease-associated complications. The availability of systemic treatments such as haematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) has created a better prognosis for MPS patients, particularly when initiated early in life. As part of an integrated management approach, these therapies could be valuable in managing the ocular features that are present in many children with MPS. HSCT has b…
Von Willebrand-Syndrom - Blutungsrisiko bei HNO-Eingriffen im Kindesalter
1994
Von Willebrand's disease (vWD) is the most common inherited bleeding disorder. Typical clinical features such as bleeding after surgery or trauma might suggest the disease. We present a series of 24 patients with vWD treated between 1989 and 1992. Diagnosis was confirmed by a reduction in plasma factor VIII antigen concentration, reduction of ristocetin cofactor activity and reduced factor VIII activity. Seventeen of the patients underwent surgery (7 adenoidectomies, 8 tonsillectomies, 2 paranasal sinus operations) and received preoperative stimulation of von Willebrand factor (vWF) using DDAVP. This resulted in a rapid increase in plasma vWF concentration from an average of 56% before stim…
Reproductive Dysfunction in Classical and Nonclassical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
2021
Patients with congenital adrenal hyperplasia (CAH) both with severe (classical CAH) and mild (nonclassical NCAH) forms exhibit a wide spectrum of reproductive dysfunction. In this review, only CAH cases with 21-hydroxylase deficiency (21-OHd) will be discussed, as they represent almost all of the patients in reproductive clinical settings.
Aneurysma des Ductus arteriosus Botalli
2000
A congenital aneurysm of the ductus arteriosus Botalli was detected by chest X-ray as an intrathoracic mass in a 7-day-old infant. Following confirmation of the diagnosis by echocardiography and MRI the aneurysm was successfully resected via left lateral thoracotomy without cardiopulmonary bypass. The postoperative course was uneventful. Six years after operation the patient is asymptomatic and growing normally. An intrathoracic mass may be considered in the differential diagnosis especially in infants and children. Aneurysms of ductus arteriosus potentially are associated with serious complications. Timely diagnosis and early surgical intervention are decisive for prevention of serious com…
Oromandibular dystonia: A dental approach
2010
Oromandibular dystonia consists of prolonged spasms of contraction of the muscles of the mouth and jaw. Primary idiopathic forms and secondary forms exist. Secondary dystonia develops due to environmental factors; some cases of cranial dystonia after dental procedure have been reported, but the causal relationship between these procedures and dystonia remains unclear. Traumatic situations in the mouth, such as poor aligned dentures or multiple teeth extractions may cause an impairment of proprioception of the oral cavity, leading to subsequent development of dystonia. The clinical characteristics of oromandibular dystonia are classified according to the affected muscles. The muscles involve…
Un modelo en Drosophila del mecanismo de patogénesis de las expansiones ctg en la distrofia miotónica.
2007
La distrofia miotónica tipo 1 (DM1) es una enfermedad neuromuscular que se debe auna expansión de repeticiones CTG inestables en la región 3' no traducida del genproteína kinasa de la DM (DMPK). La DM1 se caracteriza por la miotonía y distrofiamuscular que muestran los pacientes, los cuales también presentan cataratas,arritmias cardiacas y alteraciones neuropatológicas. A nivel bioquímico muestrandefectos en el procesado alternativo de pre-mRNAs específicos lo cual explica algunossíntomas definitorios de la DM1. El mecanismo de patogénesis se debe a la toxicidadde los RNAs con expansiones CUG para la célula. Varias proteínas de unión a RNA,como las proteínas humanas Muscleblind-like MBNL1-3…
Relationship Between Glucocerebrosidase Activity and Clinical Response to Enzyme Replacement Therapy in Patients With Gaucher Disease Type I
2019
The quantification of enzyme activity in the patient treated with enzyme replacement therapy (ERT) has been suggested as a tool for dosage individualization, so we conducted a study to evaluate the relationship between glucocerebrosidase activity and clinical response in patients with Gaucher disease type I (GD1) to ERT. The study included patients diagnosed with GD1, who were being treated with ERT, and healthy individuals. Markers based on glucocerebrosidase activity measurement in patients' leucocytes were studied: enzyme activity at 15 min. post-infusion (Act(75)) reflects the amount of enzyme that is distributed in the body post-ERT infusion, and accumulated glucocerebrosidase activity…
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
2014
Activating mutations in genes encoding phosphatidylinositol 3-kinase (PI3K)-AKT pathway components cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH, OMIM 603387)(1-3). Here we report that individuals with MPPH lacking upstream PI3K-AKT pathway mutations carry de novo mutations in CCND2 (encoding cyclin D2) that are clustered around a residue that can be phosphorylated by glycogen synthase kinase 313 (GSK-3 beta)(4). Mutant CCND2 was resistant to proteasomal degradation in vitro compared to wild-type CCND2. The PI3K-AKT pathway modulates GSK-3 beta activity(4), and cells from individuals with PIK3CA, PIK3R2 or AKT3 mutations showed similar CCND2 accumulation. CCND…
Epileptiform activity in the acute phase of stroke predicts the outcomes in patients without seizures
2023
Background and purposeThe abnormalities in EEG of stroke-patients increase the risk of epilepsy but their significancy for poststroke outcome is unclear. This presented study was aimed at determining the prevalence and nature of changes in EEG recordings from the stroke hemisphere and from the contralateral hemisphere. Another objective was to determine the significance of abnormalities in EEG in the first days of stroke for the post-stroke functional status on the acute and chronic phase of disease.MethodsIn all qualified stroke-patients, EEG was performed during the first 3 days of hospitalization and at discharge. The correlation between EEG abnormalities both in the stroke hemisphere an…