Capillary malformation-arteriovenous malformation syndrome is an autosomal dominant disorder caused by mutations in the RASA1 gene and characterized by multiple small, round to oval capillary malformations with or without arteriovenous malformations. Ateriovenous malformations occur in up to one-third of patients and may involve the brain and spine. Although making the ...

An in-depth review of jaundice in the newborn was covered in this column in the September/October 2007 issue. This article will include a brief review of bilirubin formation and discuss what is currently known about bronze baby syndrome (BBS). This column will include a short review of bilirubin formation and ...

Background:Ulerythema ophryogenes (also known as keratosis pilaris atrophicans faciei) is a rarely reported cutaneous manifestation of Noonan syndrome.Objective:Recognizing ulerythema ophryogenes as a cutaneous association in Noonan syndrome may aid in the diagnosis of this relatively common genetic condition.Methods:We present a case of a patient with Noonan syndrome and ulerythema ophryogenes ...

The authors review the relevant anatomy and provide technical tips for endoscopic decompression of the cubital tunnel. Cubital tunnel syndrome is the second most common nerve compression syndrome in the upper extremity. Until recently, surgeons focused on open decompression combined with submuscular or subcutaneous transposition of the nerve. Decompression was ...

In Susac syndrome, occlusions of microvessels-presumed to be mediated by an autoimmune response to an as yet unknown antigen-lead to a characteristic clinical triad of CNS dysfunction, branch retinal artery occlusions, and sensorineural hearing impairment. Susac syndrome is considered a rare but important differential diagnosis in numerous neurological, psychiatric, ophthalmological, ...

Metabolic syndrome (MetS) is a world-wide epidemic disease associated with increased morbidity and mortality. Treatment strategies include pharmacologic and non-pharmacologic methods, with varying degrees of success rate all over the world. Pharmaceutical interest in this field is growing, together with patients requests' for supplementary (or "alternative") treatments. The knowledge of ...

Raynaud's syndrome (RS) is characterized by episodic digital ischemia induced by cold or emotional stress. Pathophysiologic mechanisms include temporary vasospasm and fixed digital artery obstruction. A number of pharmacologic and invasive therapies have been studied to treat RS symptoms; however, there are no specific treatments that are currently approved by ...

OBJECTIVE:To review the current literature on the efficacy and safety of low- versus high-dose adrenocorticotropic hormone (ACTH) regimens, low-dose ACTH regimens, and comparison of ACTH with oral corticosteroids or vigabatrin for the treatment of West syndrome.DATA SOURCES:A literature search was performed using MEDLINE, PubMed, and International Pharmaceutical Abstracts (1975-November 2012) ...

OBJECTIVES: To analyse the evidence suggesting a possible infectious origin of Kawasaki syndrome (KS). METHODS: PubMed was searched for all of the studies published over the last 15 years using the key words "Kawasaki syndrome" or "mucocutaneous lymph node syndrome" and "infectious disease" or "genetics" or "vasculitis" or "pathogenesis". RESULTS: ...

Kidney injury from mercury is known to cause dose-related tubular dysfunction and idiosyncratic nephrotic syndrome according to various case reports. Motivated by a patient with subacute-onset nephrotic syndrome, histologic features of secondary focal segmental glomerulosclerosis, and concurrent mercury toxicity, we conducted a systematic review to explore renal histologic changes in ...

A major goal of Natural Language Processing in the public health informatics domain is the automatic extraction and encoding of data stored in free text patient records. This extracted data can then be utilized by computerized systems to perform syndromic surveillance. In particular, the chief complaint - a short string ...

Laugier-Hunziker syndrome is a rare acquired disorder characterized by diffuse pigmented macules of the oral mucosa. Other mucosal and cutaneous surfaces may be affected, and nail involvement is frequent. A case of Laugier-Hunziker syndrome in a Greek female with multiple buccal and labial mucosal lesions and unusual conjunctival involvement is presented ...

Approximately 34-86% of neoplasms of the salivary glands are located in the parotid gland and parotidectomy is the first-line treatment for parotid gland tumors. Frey syndrome and cosmetic deformity are common complications experienced by patients following parotidectomy and the sternocleidomastoid muscle flap (SCMF) is used to prevent them. Numerous studies ...

The primary cilia are microtubule-based organelles that protrude from most of the eukaryotic cells. Recognized as the cell's antenna, primary cilia function as a signaling hub for many physiologically and developmentally important signaling cascades. Ciliary dysfunction causes a wide spectrum of syndromic human genetic diseases collectively termed "ciliopathies". Mounting evidences ...

Object Isolated cervical canal stenosis at the level of the atlas (C-1) is a rare cause of cervical myelopathy in the pediatric population. It has been associated with several genetic disorders including spondyloepiphysial dysplasia congenita, Down syndrome, and Klippel-Feil syndrome. The purpose of this study is to highlight the authors' ...

Dermatofibrosarcoma protuberans (DFSP) is an uncommon dermal soft tissue tumour of intermediate malignancy. A 44-year-old man presented to the hospital with a large lesion on the right upper chest and neck. Despite eight previous surgical excisions, the tumour had continued to recur. Contrast-enhanced computed tomography showed recurrence of the tumour, ...

The aim of this systematic review was to examine the association between shift work and metabolic syndrome (MetS) as well as the potential confounders investigated. A systematic search was conducted with the aim of finding original articles on the association between shift work and MetS. The included articles were chosen ...

A variety of neurological syndromes has been described after irradiation of the distal spinal cord and cauda equina, mainly as treatment for testicular cancer and lymphoma. One of these syndromes is a rare lower motor neuron syndrome, manifested by flaccid paraparesis. Medical files of patients with postradiation lower motor neuron ...

OBJECTIVE: Vascular endothelial growth factor (VEGF) plays an essential role in the pathophysiology of polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes (POEMS) syndrome. Anti-VEGF antibody (bevacizumab) appears to be an attractive therapeutic option. The aim of this study is to investigate the effects of bevacizumab for patients with POEMS syndrome. ...

Cutis laxa is a rare congenital or acquired disorder of elastic tissue, characterized by loose skin with folds and multiple internal organ involvement, which may cause life-threatening complications. We present a patient with cutis laxa syndrome who had cross eyelids with esotropia. Bilateral lateral canthal tendon repositioning and bilateral medial ...

OBJECTIVE: To investigate the frequency of Coats syndrome and its association with D4Z4 contraction size in patients with facioscapulohumeral muscular dystrophy type 1 (FSHD1). METHODS: We searched a North American FSHD registry and the University of Rochester (UR) FSHD research database, reviewed the literature, and sent surveys to 14 FSHD ...

We performed a systematic review to assess alterations in measures of diffusion tensor imaging (DTI) in parkinsonian syndromes, exploring the potential role of DTI in diagnosis and as a candidate biomarker. We searched EMBASE and Medline databases for DTI studies comparing parkinsonian syndromes or related dementias with controls or another ...

Letter to the editor on a recent publication Hofmann, K., et al. (2011). "7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B)." in the European Journal of Medical Genetics. The author may suggest a further heterogeneous locus contained in 8q21 for Freeman-Sheldon syndrome.

Takotsubo cardiomyopathy (TC) or transient left ventricular apical ballooning syndrome is an acute cardiac syndrome characterized by transient wall motion abnormalities extending beyond a single epicardial vessel in the absence of significant obstructive coronary artery disease. This study was to describe the clinical characteristics of TC in North America. We ...

ABSTRACT: Purpose of Review: This review discusses the various causes of primary hypersomnias with emphasis on clinical recognition, diagnosis, and treatment options.Recent Findings: Narcolepsy is probably the most fascinating syndrome causing excessive daytime sleepiness. With increasing understanding of the hypocretin/orexin pathways and the neurotransmitters that subserve the role of wakefulness ...

In the last few years the progresses in molecular analysis allow better definitions of ichthyoses and lead to the necessity of a new classification and a review of nomenclature of inherited ichthyoses. So, in 2007 the First Consensus Conference on Ichthyoses was performed. We present here a short review of ...

Tourette syndrome (TS) is a chronic neuropsychiatric disorder characterised by multiple motor and vocal tics, plus associated behavioural symptoms. Tics are defined as sudden, rapid, repetitive non-rhythmic movements (motor tics) or vocalisations (vocal tics). Tics are distressing symptoms and can lead to considerable disruption to social functioning and quality of ...

The clinical presentation of acute chest syndrome is similar whether due to infectious or non-infectious causes, thus antibiotics are usually prescribed to treat all episodes. Many different pathogens, including bacteria, have been implicated as causative agents of acute chest syndrome. There is no standardized approach to antibiotic therapy and treatment ...

A case of symbrachydactyly with ipsilateral radial club hand is reported. Although this can fit in the vascular dysruption sequence, this is a rare combination.

Guillain-Barre syndrome (GBS) is an acquired disease of the peripheral nervous system which causes demyelination and leads to weakness, ataxia, and areflexia. There are a variety of forms of the syndrome, and although it is found in all age groups, it is rare in children less than two years of ...

Abstract Background: Metabolic syndrome has been identified as a condition of childhood relatively recently. The aim in this study was to describe the prevalence of metabolic syndrome in children allowing for differences in metabolic syndrome definitions. Methods: This was a systematic review of the OVID, EMBASE, and CINAHL databases, capturing ...

Curcumin (diferuloylmethane) is the yellow-orange pigment of dried Curcuma longa L. rhizomes (turmeric). During the past two decades, there has been a large volume of published studies describing the biological and pharmacological properties of this phytochemical including anticancer, anti-inflammatory, antioxidant, antithrombotic, antiatherosclerotic, cardioprotective, neuroprotective, memory enhancing, antiparkinsonism, antirheumatic, anti-infectious, antiaging, ...

To review the epidemiology, presentation, diagnosis, treatment, pathogenesis, and genetics of the syndrome known under the acronym of SAPHO for Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis to heighten awareness of this entity. We conducted a Medline search using SAPHO syndrome, chronic recurrent multifocal osteitis/osteomyelitis, and related terms as keywords and ...

Harlequin syndrome happens in only one side of the face. In the affected half, the face does not sweat or flush even with simulation. Arms and trunk could also be affected. This condition is induced by heat, exercise and emotional factors. The article reports a case of a nine-year-old female ...

ABSTRACT: The hyper-IgE syndromes (HIES; originally named Job's syndrome) are a collection of primary immunodeficiency syndromes resulting in elevated serum IgE levels and typified by recurrent staphylococcal skin abscesses, eczema and pulmonary infections. The disorder has autosomal dominant and recessive forms. Autosomal dominant HIES has been shown to be mainly ...

Laugier-Hunziker syndrome (LHS) is an acquired pigmentary condition affecting lips, oral mucosa and acral area, frequently associated with longitudinal melanonychia. There is neither malignant predisposition nor underlying systemic abnormality associated with LHS. Herein, we present three uncommon cases of LHS with possibly new feature of nail pigmentation, which were diagnosed ...

Background: Guillain-Barré syndrome and myasthenia gravis both lead to muscle weakness but the two combined is uncommon. Detection of these entities can help identify forms of autoimmune neuromuscular diseases that may respond to immunotherapy. This report sought to characterize the clinical features of these two entities when combined. Methods: This ...

Bilateral acromial dimples are uncommon in pediatric dermatology. They are usually found as a sporadic finding with limited clinical symptoms but may cause concern for parents. They can occur spontaneously or be inherited. Bilateral acromial dimples may occasionally be present as part of more complex syndromes. This article reports an ...

Since the introduction of the concept of aplastic anemia (AA) by Paul Ehrlich in 1888 and despite the current better understanding of the underlying mechanisms involved in this disease, a clear delimitation among BM failure syndromes is still a matter of debate. The diagnosis of AA can be difficult basically ...

Marfan syndrome is an autosomal dominant genetic disorder of connective tissue origin that can affect multiple organs. Various oral manifestations have been associated with this syndrome. Hypohyperdontia is a condition of mixed numeric variations that presents a combination of hypodontia with hyperdontia within a single human dentition. The purpose of ...

BACKGROUND: Intralesional triamcinolone acetonide (TAC) is a well-established treatment for keloids and hypertrophic scars. The present text provides a systematic review of all previously reported cases of Cushing's syndrome resulting from intralesional TAC in an effort to discover whether an association exists between dosage or frequency of injection and the ...

The 2q37 locus is one of the most commonly deleted subtelomeric regions. Such a deletion has been identified in >100 patients by telomeric fluorescence in situ hybridization (FISH) analysis and, less frequently, by array-based comparative genomic hybridization (array-CGH). A recognizable '2q37-deletion syndrome' or Albright's hereditary osteodystrophy-like syndrome has been previously ...

Lipomatosis is a benign and non-encapsulated mature form of fat tissue proliferation, which can be isolated or multiple, symmetrical or infiltrative, and may be associated with several syndromes. Lipomatosis has been reported to involve almost every part and organ in the body. In this review, we present imaging findings at ...

The 2012 Kidney Disease: Improving Global Outcomes (KDIGO) clinical practice guideline on glomerulonephritis (GN) is intended to assist the practitioner caring for patients with GN. Two chapters of this guideline focus specifically on nephrotic syndrome in children. Guideline development followed a thorough evidence review, and management recommendations and suggestions were ...

: The authors' purpose was to document speech outcome after cleft palate repair in patients with syndromic versus nonsyndromic Robin sequence. Results of secondary correction of velopharyngeal insufficiency using a superiorly based pharyngeal flap or double-opposing Z-palatoplasty are also reported. : Charts of patients with Robin sequence and cleft palate ...

MYH9 mutations cause the inherited macrothrombocytopenic syndromes of May-Hegglin anomaly, Fechtner syndrome, Sebastian syndrome, and Epstein syndrome, collectively referred to as MYH9-related disease. We present the case of a girl with MYH9-related disease whose diagnosis was facilitated by platelet electron microscopy and MYH9 sequencing. We discuss our patient's clinical presentation, ...

This review will address the 'state of the art' of novel genomic and proteomic biomarkers for primary Sjögren's syndrome (pSS) and the current status and potential of gene transfer to salivary glands in restoring the function of salivary glands.

The label sundown syndrome continues to be frequently used in long-term and acute care settings without consistent meaning. This study adds to the understanding of this label by synthesizing findings from research published since 1987 linked to sundown syndrome. The purpose of this systematic review is to describe, synthesize, and ...

ARTICLE TITLE AND BIBLIOGRAPHIC INFORMATION: Oral health behavior and metabolic syndrome and its components in adults. Kobayashi Y, Niu K, Guan L, Momma H, Guo H, Cui Y, Nagatomi R. J Dent Res 2012;91(5):479-84. REVIEWER: Toshiyuki Saito, DDS, PhD PURPOSE/QUESTION: Does oral health behavior such as toothbrushing lead to reduced ...

Gorlin-Goltz syndrome is a rare genetic condition showing a variable expressiveness. It is inherited in a dominant autosomal way. The strongest characteristic of the disease includes multiple basal cell carcinomas, jaw cysts, palmar and plantar pits, skeletal abnormalities and other developmental defects. Owing to the fact that the condition tends ...