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Aspergers Syndrome PubMed articles on BioPortfolio. Our PubMed references draw on over 21 million records from the medical literature. Here you can see the latest Aspergers Syndrome articles that have been published worldwide.
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Essentially, preexcitation syndrome is the presence of an accessory pathway in the heart, which can lead to serious consequences, ranging from atrioventricular reentrant tachycardia to sudden cardiac death. Wolff-Parkinson-White syndrome is the most common preexcitation syndrome.
HDR syndrome (also known as Barakat syndrome) is a rare genetic disorder due to deletions/mutations on specific regions of zinc-finger transcription factor (GATA3) gene.
Proteus Syndrome is a rare complex overgrowth syndrome. We report a young female patient with Proteus Syndrome due to AKT1 mutation c.49G > A (p.Glu17Lys), presenting with a severe gynaecological involvement which necessitated a complete hysterectomy and a left adnexectomy. Cases of gynecological involvements in Proteus Syndrome are rare, not well known by physicians while they can be potentially severe.
Augmentation syndrome is one of the most severe complications of RLS. It is characterised by a worsening of treated symptoms; principally an increase in the severity of symptoms and an earlier onset time. Augmentation syndrome occurs primarily with dopaminergic treatments. It is crucial for the patient to be sufficiently well informed to prevent its occurrence and the prescription of too high doses of dopaminergic agonists avoided. In the presence of augmentation syndrome confirmed using the diagnostic crit...
Liddle's syndrome is a rare monogenic form of hypertension caused by truncating or missense mutations in the C termini of the epithelial sodium channel (ENaC) β or γ subunits. Patients with this syndrome present with early onset of hypertension, hypokalemia, metabolic alkalosis, hyporeninemia and hypoaldosteronism, and a potassium-sparing diuretics (triamterene or amiloride) can drastically improves the disease condition. Although elderly patients having these characteristics were considered to have Liddl...
Gallstone ileus is a relatively rare pathology, most commonly obstructing the terminal ileum. Bouveret syndrome is a syndrome found particularly in elderly patients, which develops as the result of a cholecystoenteric fistula. It leads to the gastric outlet obstruction and has an incidence of less than 1%. In this report, we presented a 95-year-old patient diagnosed with Bouveret syndrome.
Williams syndrome is a multisystem disorder seen with some regularity at most pediatric centers and usually fairly often at larger centers. Cardiovascular abnormalities, because of elastin deficiency, are the leading cause of morbidity and mortality in patients with Williams syndrome. The present article presents a review of the most recent developments regarding the cardiovascular issues in Williams syndrome.
In HIV-infected patients on combination antiretroviral therapy (cART), lipodystrophy shares many similarities with metabolic syndrome, but only metabolic syndrome has objective classification criteria. We examined adipose tissue changes related to lipodystrophy and metabolic syndrome to clarify whether it may be acceptable to focus diagnosis on metabolic syndrome rather than lipodystrophy.
Neuroleptic malignant syndrome (NMS) and serotonin syndrome (SS) are serious medical conditions associated with commonly prescribed psychiatric medications. Although the mechanisms differ, they can be clinically difficult to distinguish. We report a case of a pediatric patient with complicated psychiatric history that developed features of both syndromes in the setting of polypharmacy.
Weston-Hurst syndrome is an exceptional variant of ADEM characterized by brain hemorrhages. Lesions are usually supratentorial and death is a usual outcome. We report a cerebellar Weston-Hurst syndrome early treated by craniectomy, steroids and plasma exchange. This is the first case of infratentorial Weston-Hurst syndrome associated with a favorable outcome.
There is limited evidence that Brugada syndrome (BrS) is due to SCN1B variants (BrS5). This gene may be inappropriately included in routine genetic testing panels for BrS or sudden arrhythmic death syndrome (SADS).
The syndrome of the trephined or craniectomized is commonly referred as neurological manifestations associated to skin flap depression and reversible after craneoplasty, which allows its differentiation from post-traumatic syndrome. We present the case of a male patient, 36 years old, with history of decompressive craniectomy. He evolved with sudden neurological worsening associated to syndrome of the trephined and recovery after craneoplasty. Physiopathology of the syndrome involves cerebrovascular, metabo...
Metabolic syndrome is characterized by obesity, hyperglycemia, hypertension, insulin resistance, and dyslipidemia. Metabolic syndrome is associated with osteoarthritis (OA), but it is unclear if the association is attributable to increased mechanical loading on joints caused by obesity or other aspects of metabolic syndrome. Here we examined the effects of metabolic syndrome, obesity, and the gut microbiome on load-induced OA.
Congenital lipomatous overgrowth with vascular malformations, epidermal nevi, and skeletal anomalies (CLOVES) syndrome belongs to the spectrum of overgrowth syndromes caused by postzygotic mosaic activating mutations in PIK3CA. CLOVES syndrome is rare. The diagnosis of CLOVES syndrome relies on clinical presentation and imaging studies, and can be proven by molecular genetics. This article is protected by copyright. All rights reserved.
Scimitar syndrome is a rare complex of congenital anomalies of the cardiopulmonary system. In patients with scimitar syndrome, the right pulmonary vein abnormally drains into the inferior vena cava, right atrium, coronary sinus, azygos vein, portal vein, or hepatic vein. The syndrome gets its name from the Turkish sword-like image that appears on chest x-ray. Some patients with scimitar syndrome survive in adulthood undiagnosed. Herein, we discuss positional oxygenation and hemodynamic changes associated wi...
Isaacs syndrome is a rare peripheral nerve hyperexcitability syndrome. The painful discharges in Isaacs syndrome are abolished by the blockade of the neuromuscular junction but not by peripheral nerve blocks (PNB). However, the efficacy of PNB for intraoperative and postoperative analgesia among those with Isaacs syndrome is unknown. A 41-year-old woman with Isaacs syndrome underwent open reduction and internal fixation of radius fractures. Ultrasound-guided bilateral axillary brachial plexus blocks were pe...
Posterior reversible encephalopathy syndrome (PRES) is a syndrome characterized by headache, confusion, visual loss and seizures. Many factors influence the appearance of this syndrome, predominantly eclampsia, certain medical treatments and malignant hypertension. Diagnosed by typical transient lesions on magnetic resonance imaging.
TAFRO syndrome is a systemic inflammatory disorder characterized by thrombocytopenia, anasarca, fever, reticulin fibrosis, renal dysfunction, and organomegaly. In contrast to that in multicentric Castleman disease, interleukin-6 targeting strategies seem ineffective in some TAFRO syndrome cases; however, the optimal treatment remains unclear. Here, we report 2 cases of TAFRO syndrome, where 1 with cardiomyopathy, successfully treated with tacrolimus. This is the first case report of successful treatment wit...
The risk of metabolic syndrome can be influenced by inadequate vitamin D levels, and exposure to sunlight is the main external source of vitamin D. The present study assessed the influence of environmental, biological, and nutritional factors in relation to seasonal 25-hydroxyvitamin D (25OHD) concentration in individuals with metabolic syndrome.
Silvery hair syndrome is a rare, autosomal-recessive entity characterized by silvery gray hair, eyebrows, and eyelashes and may be associated or not with immunologic or neurologic alterations. Two main types have been recognized: Chediak-Higashi syndrome and Griscelli syndrome. Hair shaft examination under light microscopy has been a useful tool to differentiate Chediak-Higashi syndrome from Griscelli syndrome, although distribution of melanin varies according to hair color related to ethnicity. The objecti...
The trichorhinophalangeal syndrome is a rare genetic disorder with a classical clinical triad of sparse hair, bulbous nose, and short digits. There are three known phenotypes, and the type II with exostoses in long bones is known as Langer-Giedion syndrome. Here, we describe a 28-year-old Sri Lankan male with Langer-Giedion syndrome and high-functioning autism. The karyotype found a microdeletion of the long arm of chromosome 8 with mosaicism [46,XY/46,XY,del(8)(q24.1q24.3)]. This is probably the first repo...
Numerous studies have indicated that obstructive sleep apnea syndrome (OSAS), may contribute to the development of metabolic syndrome (MetS) and diabetes. Moreover, OSAS has been associated with lowered vitamin D (Vit D) levels, but reports are inconclusive. Aim of the study was to compare Vit D levels according to the presence of MetS and its components in OSAS patients.
The objective of this study was to examine the associations between adiposity, metabolic syndrome (MetS), cytokines and moderate-to-vigorous physical activity (MVPA) in youth with Prader-Willi syndrome (PWS) and non-syndromic obesity (OB).
Li-Fraumeni syndrome is a genetic disease that is caused by mutation of the tumor suppressor gene TP53. Patients with this syndrome may develop multiple malignant neoplasms, including brain tumors. We herein report the first case of Li-Fraumeni syndrome in which development of supratentorial anaplastic ependymoma led to difficulty in terms of selecting the optimal postoperative therapeutic protocol.
Monosomy 1p36 syndrome is a recognized syndrome with multiple congenital anomalies; medical problems of this syndrome include developmental delay, facial dysmorphisms, hearing loss, short stature, brain anomalies, congenital heart defects. Epilepsy can be another feature but there are few data about the types of seizures and long term prognosis. The aim of this work was to analyse the electroclinical phenotype and the long-term outcome in patients with monosomy 1p36 syndrome and epilepsy.