Search results for "ETIOLOGY"
showing 10 items of 639 documents
Depressive Symptom Profiles Predict Specific Neurodegenerative Disease Syndromes in Early Stages
2020
Background: During early stages, patients with neurodegenerative diseases (NDG) often present with depressive symptoms. However, because depression is a heterogeneous disorder, more precise delineation of the specific depressive symptom profiles that arise early in distinct NDG syndromes is necessary to enhance patient diagnosis and care. Methods and Findings: Five-hundred and sixty four participants self-reported their depressive symptoms using the Geriatric Depression Scale (GDS), including 111 healthy older control subjects (NC) and 453 patients diagnosed with one of six NDGs who were at the mild stage of disease (CDR® Dementia Staging Instrument ≤ 1) [186 Alzheimer's disease (AD), 76 be…
Epigenetics in spine curvature disorders
2022
Abstract Scoliosis is a three-dimensional (3D) structural deformity of the spine with a radiological lateral Cobb angle of ≥ 10°. Several classification systems exist, dividing different types regarding the age of onset or the type of etiology. The minority of cases are secondary to congenital, syndromic of neuromosucular diseases. Most of the cases are classified “idiopathic” due to unknown etiology. These were formally divided by the age of onset into “Infantile Idiopathic Scoliosis” (0–3 years), “Juvenile Idiopathic Scoliosis” (JIS—4–10 years), and “Adolescent Idiopathic Scoliosis” (AIS → 10 years). Since the initiative of the Scoliosis Research Society in 2014 all kind of scoliosis with…
Surgical Emergencies in Crohn’s Disease
2015
Crohn’s disease, as a chronic inflammatory disease of unknown etiology that can affect any part of the alimentary canal from the mouth to the anus, has a highly variable course and a very unpredictable evolution. Even surgery does not cure CD, it has however a relevant role in its treatment in combination to medical therapy during the large course of the disease; indeed almost each patient is submitted to a surgical intervention during his life. Nowadays, surgery is considered the last treatment to use whenever medical therapy is insufficient to control symptoms; this choice involves an intervention on more serious patients with more surgical complications. Surgery finds in the Crohn’s dise…
Assessment of prurigo of pregnancy in patients without atopic background
2020
Highlights • PP can develop in patients without atopic background. • Onset: late 2nd to early 3rd trimester; can persist until delivery. • Patient should be counseled accordingly. • These findings should be considered when classifying specific pregnancy dermatoses.
Retrospective Study of Patients Diagnosed With Sweet Syndrome in the Health Area of a Tertiary Hospital in the Autonomous Community of Valencia
2012
Sweet syndrome is the most characteristic of the neutrophilic dermatoses. We performed a retrospective study of patients with Sweet syndrome seen in our department between 2001 and 2009, inclusive; the aims were to define the patient profile and to evaluate the clinical and epidemiological differences between subgroups. There were 24 patients (13 women and 11 men). The age distribution was similar in both sexes and showed 2 peaks, one in the fourth decade and the other in the eighth decade. The etiology was predominantly infectious or inflammatory, followed by the idiopathic form. There were 4 cases of paraneoplastic disease, 2 of which involved solid-organ tumors. One case was associated w…
Hipoplasia pulmonar en el adulto: descripción, patogenia y revisión
2002
La hipoplasia pulmonar es una entidad muy poco frecuente caracterizada por una detención en el desarrollo pulmonar, que produce que estos órganos se encuentren poco desarrollados. Habitualmente esta enfermedad es diagnosticada en la infancia y son muy pocos los casos que pasan desapercibidos detectándose en la edad adulta (>18 años). Presentamos cuatro casos de pacientes adultos diagnosticados de hipoplasia pulmonar por diversas técnicas (de imagen o invasivas), que consultaron por sintomatología inespecífica, sobre todo relacionada con infecciones respiratorias y su posterior evolución a lo largo de los años. Repasamos además la patogenia, etiología y malformaciones asociadas de esta enfer…
Bilateral agenesis/aplasia of the lungs: report of a second case in the offspring of one woman.
1995
Congenital absence of both lungs is an extremely rare malformation in humans and is thought to occur sporadically. We report the second case of congenital absence of both lungs in the offspring of one woman. In neither case, one female baby (born at term) and one aborted female fetus (21 weeks of gestation), were anomalies or malformations of other organ systems observed. The karyotype of the aborted fetus was 46,XX. To our knowledge, this is the first report describing bilateral pulmonary agenesis in two offspring of one mother. The repetition of virtually the same isolated abnormality with no other malformations supports the hypothesis that it could be caused by a genetic disorder. Other …
Italian consensus recommendations for a biomarker‐based aetiological diagnosis in mild cognitive impairment patients
2019
Background and purpose: Biomarkers support the aetiological diagnosis of neurocognitive disorders in vivo. Incomplete evidence is available to drive clinical decisions; available diagnostic algorithms are generic and not very helpful in clinical practice. The aim was to develop a biomarker-based diagnostic algorithm for mild cognitive impairment patients, leveraging on knowledge from recognized national experts. Methods: With a Delphi procedure, experienced clinicians making variable use of biomarkers in clinical practice and representing five Italian scientific societies (neurology – Società Italiana di Neurologia per le Demenze; neuroradiology – Associazione Italiana di Neuroradiologia; b…
Non-neoplasic and non-syndromic palatal perforations. Presentation of 5 cases and systematic review of the literature
2021
Background Palatal perforations not associated with syndromes or neoplasms are rare lesions whose frequency has increased recently. However, their clinical and demographic characteristics have not been fully described. Therefore, this report aimed to establish the demographic and clinical characteristics of patients with non-syndromic and non-neoplastic palatal perforations. Material and Methods The file of an oral medicine teaching clinic from January 2004 to December 2018 was reviewed to identify and isolate all cases with a diagnosis of palatal perforation. Cases with a diagnosis of palatal perforation related to congenital alteration, syndrome, or neoplasia were excluded. Age, sex, medi…
Van der Woude syndrome- a syndromic form of orofacial clefting
2012
Van der Woude Syndrome is the most common form of syndromic orofacial clefting, accounting for 2% of all cases, and has the phenotype that most closely resembles the more common non-syndromic forms. The syndrome has an autosomal dominant hereditary pattern with variable expressivity and a high degree of penetrance with cardinal clinical features of lip pits with a cleft lip, cleft palate, or both. This case report describes van der Woude syndrome in a 19 year old male patient with a specific reference to the various aspects of this condition, as clinical appearance, etiological factors (genetic aspects), differential diagnosis, investigative procedures and management. Key words:Cleft palate…