Acute aortic syndrome is a term that describes one of a number of different pathologic entities. Each of these conditions requires urgent or emergent evaluation and may possibly require surgical intervention. However, both entities may be unfamiliar to the nonsurgical (and in some cases, surgical) practitioner and they may mimic ...

Maffucci syndrome is a congenital, non-hereditary mesodermal dysplasia manifested by multiple enchondromas and hemangiomas. It is associated with diverse secondary musculoskeletal deformities, which is exceedingly rare. We report a case of hemangiomas and enchondromas localized in the unilateral limb in a patient with Maffucci syndrome. Treatment consists of orthopedic and ...

We evaluated the response of individuals with metabolic syndrome to lifestyle modification intervention and examined the influence of polymorphism 48867A>C (Asp358Ala) of IL6R (rs2228145) in this response. Participants were randomly divided into two groups: NI, nutritional intervention; NIE, nutritional intervention and exercise practice. Intervention lasted three months and participants completed ...

Superior vena cava syndrome results from the obstruction of blood flow through the superior vena cava and is most often due to thoracic malignancy. However, benign etiologies are on the rise secondary to more frequent use of intravascular devices such as central venous catheters and pacemakers. Although rarely a medical ...

Well-leg compartment syndrome in the lower extremities after surgery in the lithotomy position is a rare but severe complication requiring early diagnosis and intervention. Several circumstances predispose to this condition as a consequence of increased intra-compartmental pressure, such as positioning of the legs during operation (lithotomy and Lloyd-Davies positions), a ...

Morphosyntax constitutes one of the most complex areas of language. It takes into account the structure of the word and that of the sentence, and its development allows one to establish adequately agreements both within the nominal phrase and in the rest of the sentence. Morphosyntax is particularly impaired in ...

BACKGROUND: Temper outbursts are common in Prader-Willi syndrome but rarely described in detail. This study investigated the phenomenology of temper outbursts in terms of antecedents, sequence of behaviours and emotions and intervention strategies used. METHOD: A semi-structured interview about temper outbursts was conducted with the main carers of seven children ...

Frey syndrome is a common complication that appears few months after parotid surgery with flushing and sweating of the parotid-temporal area during mastication. It presumably originates from an aberrant nervous regeneration in which the parasympathetic fibers of the parotid gland would combine themselves with the sympathetic fibers of the sweat ...

Loeys-Dietz is a multisystem congenital syndrome that comprises craniofacial and cutaneous abnormalities as well as structural cardiac defects. One of its key pathological features is an aggressive widespread vasculopathy that can manifest as aortic or cerebral aneurysms, which is prone to dissection and rupture. We report a case of a ...

Mexican American women have the highest incidence of metabolic syndrome among all U.S. demographic groups. This paper details an innovative approach to reducing the risks for metabolic syndrome among Hispanic families in rural Idaho. Compañeros en Salud (CeS) is a promotora-led wellness program and community-based participatory research project from the ...

A de novo G608G mutation in LMNA gene leads to Hutchinson-Gilford progeria syndrome. Mice lacking the prelamin A-processing metalloprotease, Zmpste24, recapitulate many of the progeroid features of Hutchinson-Gilford progeria syndrome. Here we show that A-type lamins interact with SUV39H1, and prelamin A/progerin exhibits enhanced binding capacity to SUV39H1, protecting it ...

Pharmacological therapy is a crucial step in the management of individuals with the metabolic syndrome, when lifestyle modifications alone cannot achieve the therapeutic goals. The present study aimed to evaluate the efficacy of comprehensive interventions with the pharmacological treatment in individuals with the metabolic syndrome. A cross-sectional population-based survey examined ...

Among the many complications of celiac disease, mesenteric lymph node syndrome cavitated is considered one of the rarest, there is few case series published in the literature. The etiology and pathophysiology are unknown but because of its high mortality rate, estimated to be around 50%, it should recognize at an ...

Background The metabolic syndrome is a cluster of cardiovascular risk factors and its prevalence is alarmingly high in Kuwait, affecting nearly one third of the adult population. There is lack of information about the role of community pharmacists in the care of patients with the metabolic syndrome. Objective To assess ...

OBJECTIVE To evaluate the long-term efficacy of adenotonsillectomy in the treatment of pediatric patients with PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis) syndrome. DESIGN Prospective case series. SETTING Tertiary care pediatric hospital. PATIENTS Pediatric patients meeting the criteria for PFAPA syndrome. INTERVENTIONS Tonsillectomy with adenoidectomy. MAIN OUTCOME MEASURES ...

BACKGROUND: Colonic pseudo-obstruction in critically ill patients may lead to devastating colonic perforation. Neostigmine is often the first-line intervention, because colonoscopy is more invasive and labor intensive. METHODS: A retrospective 10-year review at a tertiary medical center identified 100 patients with Ogilvie's syndrome, in whom treatment course and clinical and ...

BACKGROUND: Cri du chat syndrome (CCS) is a genetic disorder resulting from the deletion of the short arm of chromosome 5. Perhaps the most distinctive characteristic of this syndrome is the congenital high-pitched cry, which frequently brings these patients to the attention of an otolaryngologist. Speech and language development in ...

Both subclinical hypothyroidism and the metabolic syndrome have been associated with increased risk of coronary heart disease events. It is unknown whether the prevalence and incidence of metabolic syndrome is higher as TSH levels increase, or in individuals with subclinical hypothyroidism. We sought to determine the association between thyroid function ...

Analysis of the National Inpatient Sample database from 2000 to 2008. To identify whether metabolic syndrome is an independent risk factor for increased major perioperative complications, cost, length of stay, and nonroutine discharge. Metabolic syndrome is a combination of medical disorders that has been shown to increase the health risk ...

Athletic pubalgia (AP) is a chronic debilitating syndrome that affects many athletes. As a syndrome, AP is difficult to diagnose both with clinical examination and imaging. AP is also a challenge for conservative intervention with randomized controlled trials showing mixed success rates. In other syndromes where clinical diagnosis and conservative ...

Neonatal distraction in severe micrognathia patients may alleviate the need for tracheostomy. The authors' objectives in evaluating syndromic neonatal distraction cases were to: (1) document preoperative temporomandibular joint pathology, (2) compare the incidence of postoperative temporomandibular joint ankylosis, and (3) determine whether "unloading" the condyle tended to prevent temporomandibular joint ...

The present review describes advances in understanding the mechanisms and provide an update of present and promising therapy directed at the gut or the brain in the treatment of irritable bowel syndrome (IBS). The diagnosis of IBS typically is based on identification of symptoms, such as the Rome III criteria ...

The RASopathies are a class of human genetic syndromes caused by germline mutations in genes that encode protein components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Costello syndrome (CS) is a RASopathy caused by mutations in the HRAS gene, a key regulator of signal transduction. To quantify the specific cutaneous ...

Costello syndrome (OMIM# 218040) is a distinctive rare multisystem disorder comprising a characteristic coarse facial appearance, intellectual disabilities, and tumor predisposition. Although the diagnosis can be suspected clinically, confirmation requires identification of a heterozygous mutation in the proto-oncogene HRAS. In contrast to somatic oncogenic mutations in neoplasia, the Costello syndrome ...

Down's syndrome, a congenital disorder associated with cognitive impairment and early-onset Alzheimer's disease, is a progressive genetic pathology resulting from full or partial triplication of chromosome 21. Down's syndrome brain is typified by activated microglia, increases in inflammatory signaling, and an aberrant immune system. In these studies, a screening of ...

Usher syndrome (USH) is the most prevalent cause of hereditary deafness-blindness in humans. In this review, we pinpoint new insights regarding the molecular mechanisms defective in this syndrome, its molecular diagnosis and prospective therapies. Animal models wherein USH proteins were targeted at different maturation stages of the auditory hair cells ...

We report the case of a patient with myelodysplasia who had Sweet syndrome of the oral cavity. An atypical myeloid immunophenotype was present in the gingival biopsy specimen and in a concurrent bone marrow specimen. Fluorescence in situ hybridization performed on the gingival biopsy specimen demonstrated the same del(20q) cytogenetic ...

Posterior cortical atrophy (PCA) is a neurodegenerative syndrome that is characterised by progressive decline in visuospatial, visuoperceptual, literacy, and praxic skills. The progressive neurodegeneration affecting parietal, occipital, and occipitotemporal cortices that underlies PCA is attributable to Alzheimer's disease in most patients. However, alternative underlying causes, including dementia with Lewy bodies, ...

: Neuroleptic malignant syndrome (NMS) is characterized by a tetrad of mental status changes, extrapyramidal symptoms, hyperpyrexia, and autonomic instability and can develop after the use of antipsychotics. : A young, multiparous woman presented at 26 weeks of gestation with acute psychosis and was treated with haloperidol until she developed ...

The mouse model is the one of the most frequently used and well-established animal models, and is currently used in many research areas. To date, various mouse models have been utilized to elucidate underlying causes of multifactorial autoimmune conditions, including pathological immune components and specific signaling pathways. This review summarizes ...

Patients with vascular Ehlers-Danlos syndrome are predisposed to premature vascular complications. The objective of this article is to review the CT findings and current thoughts about the management of vascular pathologic abnormalities and diseases in patients with Ehlers-Danlos syndrome. The manifestation of vascular Ehlers-Danlos syndrome frequently involves multiple vascular segments, ...

SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome defines an association of inflammatory cutaneous disorders with osteoarticular manifestations and represents a clinical and therapeutic challenge. We report a case of severe SAPHO syndrome with acne conglobata and a diffuse involvement of the anterior chest wall and sacroiliac joints that required ...

Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of disrupted lymphocyte homeostasis, resulting from mutations in the Fas apoptotic pathway. Clinical manifestations include lymphadenopathy, splenomegaly, and autoimmune cytopenias. A number of new insights have improved the understanding of the genetics and biology of ALPS. These will be discussed in this review. ...

Autosomal dominant hyper-IgE syndrome (AD-HIES) or Job's syndrome is a primary immunodeficiency with a wide array of clinical features caused by dominant negative mutations in STAT3. In recent years, not only the clinical phenotype of the disease has been expanded with recognition of features such as arterial aneurysms, but also ...

Purpose:  To elucidate the aetiology of congenital Brown syndrome. Methods:  Four consecutive patients diagnosed with unilateral congenital Brown syndrome had a comprehensive standardized ocular motility examination. Any compensatory head posture was measured. Brain magnetic resonance imaging (MRI) with regard for the IV cranial nerve (CN) was performed in all patients. ...

The Floating Harbor syndrome is a rare genetic disease characterized by a triad of clinical signs: specific dysmorphic facial features, short stature with delayed bone age, and language and speech disorders. These signs are, in most cases, associated with borderline normal intelligence to moderate delay concerning intellectual functioning. We report ...

Shwachman-Diamond syndrome is an autosomal recessive disorder in which severe bone marrow dysfunction causes neutropenia and an increased risk of leukemia. Recently, novel particulate cytoplasmic structures, rich in ubiquitinated and proteasomal proteins, have been detected in epithelial cells and neutrophils from patients with Helicobacter pylori gastritis and several epithelial neoplasms. ...

Enhanced metabotropic glutamate receptor subunit 5 (mGluR5) function is causally associated with the pathophysiology of fragile X syndrome, a leading inherited cause of intellectual disability and autism. Here we provide evidence that altered mGluR5-Homer scaffolds contribute to mGluR5 dysfunction and phenotypes in the fragile X syndrome mouse model, Fmr1 knockout ...

A 47-year-old man was admitted to hospital for migratory joint pain, fatigue, and cough with bloody sputum and proteinuria with increased serum creatinine level. Diagnosis of Wegener's granulomatosis was established. During follow-up, the vena cava superior syndrome developed. The patient died of respiratory failure after 12 years of follow-up. The ...

PURPOSE: Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is a severe multi-system reaction defined by fever, rash, eosinophilia, and internal organ involvement. The condition typically occurs one to eight weeks following exposure to inciting medications. In severe cases, it can develop into multi-organ system failure and death. We ...

Mitochondrial cytopathies are a diverse group of disorders characterized by impaired mitochondrial energy production. Disease manifestations are protean and may include seemingly disparate findings. CASE DIAGNOSIS/TREATMENT: Here we report a 5-year-old girl with the uncommon pairing of bilateral corneal dystrophy requiring corneal transplantation and severe Fanconi syndrome recalcitrant to oral ...

A 50-year-old woman with a 1-month history of lower extremity edema and a 5 kg weight increase was admitted to our hospital with suspected nephrotic syndrome in October 1999. Urine protein level was 3.5 g per day, 10-15 erythrocytes in urine per high-power field, and serum albumin level 2.5 g/dl. Furthermore, an ...

PURPOSE OF REVIEW: This review describes the relationship between nephrolithiasis, vascular disease and metabolic syndrome. RECENT FINDINGS: There is increasing evidence that kidney stone formation is associated with a number of systemic problems including cardiovascular disease, metabolic syndrome and its components. Some of these associations are bidirectional. The reasons for ...

Superior semicircular canal dehiscence (SSCD) syndrome has been called the great otologic mimicker because its presentation overlaps with otosclerosis, Meniere's disease, perilymphatic fistula, and patulous eustachian tube. A valuable examination finding that can help distinguish SSCD syndrome from other pathologic conditions is the presence of Hennebert's sign, in which pressure ...

Abstract Reversible posterior leukoencephalopathy syndrome (RPLS) is characterized by headache, altered consciousness, seizures, and cortical blindness. The most frequent etiological factors are hypertension, kidney diseases, and immunosuppressive drugs such as steroids and cyclophosphamide. Herein we present a case of a 22-year-old female patient presented with alveolar hemorrhage and acute renal ...

In Marfan's syndrome, which is a connective tissue disorder of hereditary origin, collagenous tissue development and bone synthesis are generally altered in addition to the occurrence of many systemic deformities. External ear, stapes, and vestibular aqueduct pathologies are reported as some of the otological deformities. However, the malleus and incus ...

OBJECTIVE: To evaluate the responsiveness of the EULAR Sjögren's Syndrome Patient Reported Index (ESSPRI) and EULAR Sjögren's Syndrome Disease Activity Index (ESSDAI) in patients with primary Sjögren's syndrome (pSS) treated with rituximab.METHODS: Twenty-eight patients with pSS treated with rituximab (1000 mg) infusions on days 1 and 15 were included in ...

INTRODUCTION AND HYPOTHESIS: The purpose of this study was to evaluate the expression of estrogen receptor alpha (ERα) on the neovaginal tissue of patients with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome submitted to modified Abbé-McIndoe neovaginoplasty using oxidized regenerated cellulose. METHODS: The current study involved eight subjects with MRKH syndrome. Serial samples of ...

Many cell surface proteins in mammalian cells are anchored to the plasma membrane via glycosylphosphatidylinositol (GPI). The predominant form of mammalian GPI contains 1-alkyl-2-acyl phosphatidylinositol (PI), which is generated by lipid remodeling from diacyl PI. The conversion of diacyl PI to 1-alkyl-2-acyl PI occurs in the ER at the third ...

Pancreatic endocrine neoplasms are rare pancreatic tumours that may occur sporadically or as part of inherited syndromes such as multiple endocrine neoplasia-1 syndrome, von Recklinghausen disease, von Hippel-Lindau syndrome and tuberous sclerosis complex. Recent advances in the genetics and pathology of hereditary syndromes have provided valuable insights into the pathophysiology ...