The H syndrome is a recently defined autosomal recessive genodermatosis caused by mutations in the nucleoside transporter hENT3. It is characterized by cutaneous changes of progressive sclerosis, hyperpigmentation, and hypertrichosis that follow a specific pattern and are associated with multiple systemic manifestations. A case is presented and a brief review ...

Leser-Tr?lat syndrome is characterized by the eruptive appearance of multiple seborrheic keratoses in association with underlying malignant disease. Usually, the sign of Leser-Tr?lat is associated with adenocarcinoma, most frequently of the colon, breast, or stomach, but also of the lung, kidney, liver, and pancreas. Herein, we present a case that ...

The occurrence of multiple fibrofolliculomas or trichodiscomas on the face and neck is clinically characteristic of Birt-Hogg-Dubé (BHD) syndrome, whereas the development of multiple fibrous papules or angiofibromas on the face is an important clinical sign of tuberous sclerosis complex (TSC). It has been suggested that a relationship exists between ...

It is proposed that gut-liver-lung axis plays an important role in the pathophysiologic development of the critical illness, and it induces excessive inflammatory response in vivo and multiple organ dysfunction syndrome. The mechanisms of therapeutic effects of rhubarb on critical patients are studied based on the theory of Chinese traditional ...

Purpose. The pharmacology, pharmacokinetics, pharmacodynamics, clinical utility, adverse effects, dosage, and cost of lenalidomide are reviewed.Summary. Lenalidomide is a thalidomide analogue approved for treatment of myelodysplastic syndromes (MDS) associated with a cytogenetic 5q deletion. In combination with dexamethasone, lenalidomide has been approved by the FDA in the United States for ...

We describe a patient presenting with the rapid onset of incomplete Wallenberg syndrome (WS) as the initial clinical manifestation of multiple sclerosis (MS). This patient was initially diagnosed with acute ischaemic lateral medullary syndrome, but further assessment led to the diagnosis of definite MS. Our report aims to highlight the ...

Multiple endocrine neoplasia syndrome type 1 (MEN-1) consists of endocrine tumors of the parathyroid, the endocrine pancreas-duodenum, and the pituitary. Surveillance and screening for the endocrinopathies is recommended in gene carriers. Surgery for MEN-1-related hyperparathyroidism is generally performed as radical subtotal parathyroidectomy, because less surgery is likely to result in ...

A genome-wide association study has identified the R92Q variant of the TNFRSF1A gene as a new susceptibility locus for multiple sclerosis. This locus is of special interest because the R92Q substitution was previously detected in a group of multiple sclerosis patients who had additional symptoms compatible with the autoinflammatory syndrome ...

OBJECTIVE: To describe the clinical, laboratory, and radiological features of Primary Sjogren's syndrome (PSS) with central nervous system (CNS) involvement. METHODS: A retrospective case series of 12 female patients with PSS and CNS involvement at King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia from 1991-2009. The ...

This report describes a 7-year-old boy with multiple endocrine neoplasia type 2B who presented to the ophthalmology department because of peripheral corneal changes. In addition to prominent corneal nerves and eyelid neuromas, the patient was found to have substantial corneoscleral limbal thickening with corneal neovascularization.

Occurrence of multiple sclerosis (MS) in patients with ankylosing spondylitis (AS) has been reported in isolated cases. We describe a white 33-year-old male with a definite familial HLAB27 positive AS and MS-like syndrome. The patient developed acute onset of gait difficulty, postural unsteadiness, dysarthria and right side weakness that resolved ...

The prominent or isolated weakness of cervical extensor muscles is a relatively rare clinical sign. Commonly, this is known as "dropped-head syndrome". This abnormal flexion of the head may occur in a variety of neuromuscular diseases and in a few non-neurological disorders as well. Systemic sclerosis is a clinically heterogeneous ...

Until the end of the past century, a diagnosis of multiple sclerosis (MS) was often accompanied by a sense of apprehension, fueled primarily by the lack of available therapies and failed attempts with numerous agents. The modern era of MS therapeutics introduced in the past 20 years has helped to ...

OBJECTIVE: To describe fundus autofluorescence (FAF) in a series of patients with multiple evanescent white dot syndrome. METHODS: Three eyes of three patients with multiple evanescent white dot syndrome were evaluated with indocyanine green angiography and FAF imaging to evaluate the correspondence between FAF and ICG patterns and the nature ...

BACKGROUND: Vogt-Koyanagi-Harada (VKH) syndrome is characterized by bilateral diffuse uveitis associated with auditory, neurological, and cutaneous signs and symptoms. VKH syndrome is a cell-mediated autoimmune disease against melanocytes. Choroidal neovascularization (CNV) occurs in 15% of VKH patients and is associated with poor visual prognosis. CASES: We report on two patients ...

Urolithiasis is a general term referring to the causes and effects of stones anywhere in the urinary tract. Urolithiasis should not be viewed conceptually as a single disease with a single cause, but rather as a sequela of multiple interacting underlying abnormalities. Thus, the syndrome of urolithiasis may be defined ...

Multiple sclerosis (MS) is frequently associated with a number of different psychiatric syndromes. Solely psychiatric syndrome may be the first clinical presentation of multiple sclerosis. We report a patient whose first attack was psychotic depression. The present case emphasizes that psychiatric symptoms can occur at any time during the course ...

AIM: To determine the extent to which the use of intravenous human immunoglobulin for neurological conditions complied with the guidelines of the Australian Health Minister's Advisory Council. METHODS: Patients treated with intravenous immunoglobulin in Otago over a 5.5-year period were identified from the records of the New Zealand Blood Service ...

Poly (3-hydroxybutyrate-co-3-hydroxyhexanoate) (PHBHHx), a polyester with strong mechanical properties and biocompatibility, is a member of microbial polyhydroxyalkanoates (PHA) family. Maleic anhydride was used to graft PHBHHx to form maleated PHBHHx (Ma-PHBHHx). Ma-PHBHHx with a graft degree of 0.59% was found to be more thermo-stable in comparison with PHBHHx. In vitro ...

BACKGROUND: Buschke-Ollendorff syndrome is a rare autosomal dominant disease featuring osteopoikilosis and skin lesions. It is caused by genetic mutations in a protein deeply involved in bone and connective tissue morphogenesis. METHODS: We describe a 39-year-old woman with Buschke-Ollendorff syndrome. RESULTS: After a minor trauma, radiologic examination of the left ...

Proteus syndrome is a complex and highly variable disorder comprising malformations and overgrowth of multiple tissues. We present a 65-year-old Japanese man who had multiple spinal meningiomas and accompanying neural symptoms. His right leg showed hypertrophy with cerebriform connective-tissue naevus on the sole, and macrodactyly. Chest computed tomography imaging revealed ...

The name of Wilhelm Uhthoff is associated with several aspects of progress in neurology in the 19th and 20th Century but is best known for his contribution to the pathophysiology of transient visual disturbance. Uhthoff was born on 31 July 1853 in Klein Warin, Germany and died on 21 March ...

Alien hand syndrome is the strange feeling of one's hand behaving independently. This syndrome has rarely been reported in multiple sclerosis (MS) patients. Herein, we present a 34-year-old female MS patient who had recurrent symptoms of alien hand syndrome that were evaluated as MS attacks based on cranial magnetic resonance ...

OBJECTIVE: To determine whether preprocessing chief complaints before automatically classifying them into syndromic categories improves classification performance. METHODS: We preprocessed chief complaints using two preprocessors (CCP and EMT-P) and evaluated whether classification performance increased for a probabilistic classifier (CoCo) or for a keyword-based classifier (modification of the NYC Department of ...

A 38-year-old man presented with axillary freckling, multiple café au lait macules and neurofibromas on the scalp, trunk and extremities. In addition, he had a patch of white hair on the right parieto-occipital area overlying a scalp neurofibroma. He was diagnosed with poliosis circumscripta associated with neurofibromatosis 1.

A first comprehensive dataset of nectar sugar composition and concentration in Bromeliaceae is presented, covering 111 species belonging to all three subfamilies. Based on this dataset, we examined the relationship between nectar traits and pollination syndromes in the family. Sugars in samples were assayed by high pressure liquid chromatography. All ...

Several authors have recently expressed doubts that the 'pollination syndromes' as usually expressed are an adequate description of correlated suites of floral characters, or that they adequately describe evolutionary or ecological associations of plants with pollinators. Disterigma stereophyllum is a neotropical Ericaceae with floral characteristics intermediate between the 'entomophilous' syndrome ...

A severe insult in the form of infection or trauma primes the host immune system so that a subsequent, relatively trivial insult produces a markedly exaggerated host immune response, which can lead to multiple organ dysfunction syndrome (MODS) and death. This forms the basis of the "two-hit hypothesis" (THH), which ...

Capecitabine, a fluoropyrimidine carbamate with antineoplastic activity, is an oral agent that was developed as a prodrug of 5-fluorouracil and is used in the treatment of metastatic colorectal and breast cancers. Multiple cutaneous adverse effects had been described with the use of this drug, but to our knowledge, specific association ...

Papular elastorrhexis is a rare entity of elastic tissue characterized by multiple white papules usually located on the trunk. We report a case of papular elastorrhexis in a 22-year-old man with sparse lesions and discuss the main controversial facts in this entity: its consideration as an independent disease or as ...

Emergency department free-text chief complaints (CCs) are a major data source for syndromic surveillance. CCs need to be classified into syndromic categories for subsequent automatic analysis. However, the lack of a standard vocabulary and high-quality encodings of CCs hinder effective classification. This paper presents a new ontology-enhanced automatic CC classification ...

The syndrome of enamel dysplasia with hamartomatous atypical follicular hyperplasia (EDHFH) is an unusual syndrome and is unique to black South Africans. Major criteria for the syndrome are enamel dysplasia with generalized amelogenesis imperfecta-like features and atypical hyperplastic dental follicles with microscopic features of central odontogenic fibroma WHO-type (follicle analogue) ...

Autonomic dysfunction is common in parkinsonian syndromes, particularly those involving dysregulation of alpha-synuclein, and may result from neurodegeneration in autonomic regulatory regions of the brain or peripherial autonomic ganglia. The most limiting cardiovascular autonomic dysfunction in these diseases is orthostatic hypotension, which is particularly prominent in multiple system atrophy. Postprandial ...

Since its first description more than a century ago, there has been much debate about the diagnostic entity progressive muscular atrophy (PMA). Initially, PMA included all forms of progressive amyotrophy. With the identification of several myogenic and neurogenic diseases and the recognition of amyotrophic lateral sclerosis (ALS), PMA was deemed ...

Ant reproductives exhibit different morphological adaptations linked to dispersal and fertility. By reviewing the literature on taxa where workers can reproduce sexually (i.e. become gamergates) we show that (1) species with a single gamergate generally have lost the winged queen caste, whereas only half of the species with several gamergates ...

We describe the inpatient clinical rehabilitation course of three patients with neuromyelitis optica (NMO; Devic syndrome). These patients had varying functional deficits. Each patient improved in several functional independence measures (FIM domains) but had minimal to no progress in other domains after acute rehabilitation stays between 1 and 1.5 mos. ...

Burning mouth syndrome (BMS) is characterized by burning discomfort or pain in otherwise normal oral mucosa. It is usually refractory. Treatment modalities are scarce. Herein we report one case of primary disabling BMS, previously refractory to multiple regimens, with complete and persistent improvement with pramipexol, a nonergot dopamine agonist which ...

While impaction of tooth is widespread, multiple impacted teeth by itself is a rare condition and often found in association with syndromes such as cleidocranial dysplasia or Gardner's syndrome. A light of radiographic examination, we describe three Turkish young males with multiple impacted teeth who didn't possess any systemic conditions ...

BACKGROUND: Gilbert's syndrome is a chronic or recurrent mild unconjugated hyperbilirubinemia caused by decreased activity of UDP glucuronosyltranferase (UGT1A1). The most common cause of Gilbert's syndrome in Caucasians is homozygous variant of the A(TA)7TAA promoter polymorphism. Alleles with five or eight TA repeats have also been described, but they are ...

An English speaking women developed a French accent, without any aphasic syndromes, in conjunction with multiple left sided cranial nerve deficits, temporally related to cranial trauma. Extensive testing with multimodality magnetic resonance imaging, cerebrospinal fluid and laboratory analysis was unremarkable. She was followed over a 3 year period during which ...

Hutchinson-Gilford progeria syndrome (HGPS) is a progeroid syndrome characterized by multiple aging-like disease phenotypes. We recently reported that a protein farnesyltransferase inhibitor (FTI) improved several disease phenotypes in mice with a HGPS mutation (Lmna(HG/+)). Here, we investigated the impact of an FTI on the survival of Lmna(HG/+) mice. The FTI ...

Bazex-Dupré-Christol syndrome is a rare genodermatosis with cancer predisposition, characterized by follicular atrophoderma, multiple milia, congenital hypotrichosis, hypohidrosis and basal cell malformations that include nevoid basal cell carcinomas of early onset. We present two patients with this syndrome, a 1-year-old boy with diffuse scalp and eyebrows alopecia, milia papules on ...

Lemierre's syndrome is an oropharyngeal infection which leads to severe septic thrombophlebitis of the internal jugular vein and metastatic abscesses of the lungs and other organs. It is usually caused by Fusobacterium necrophorum, a Gram-negative obligate anaerobe. An unusual case of Panton-Valentine leukocidin (PVL)-producing Staphylococcus aureus infection masquerading as Lemierre's ...

BACKGROUND: Gorham and Kasabach-Merritt syndrome are rare diagnoses that can complicate pregnancy by increasing the risk of pelvic fracture and consumptive coagulopathy, respectively. CASE: A 23-year-old woman, gravida 2, para 0101, with a prenatal diagnosis of Gorham syndrome from her previous pregnancy was admitted at 32 weeks' gestation with severe ...

Fasciculations are symptoms present in a broad spectrum of conditions, ranging from normal manifestations to motor neuron diseases. They also represent the main picture of benign fasciculation syndrome. We report a case of such syndrome: a 48-years-old woman complaining about fasciculations for three decades who remained with the symptoms even ...

Wasp stings have been associated with wide variety of reactions from mild local reaction like wheal formation to fatal systemic reactions. Life threatening complications following a single wasp sting are relatively rare and unexpected. We report here the clinical course of a 12 year old child who developed Multiple Organ ...

One-and-a-half syndrome is characterized by combination of the clinical features of unilateral horizontal gaze palsy and internuclear ophthalmoplegia. The common symptoms are double vision and oscillopsia. The lesion is located in the paramedian pontine reticular formation, involving the centre of horizontal gaze and medial longitudinal fasciculus. More extensive brainstem damage ...

BACKGROUND: The aim of this study is to confirm whether the absolute and relative lengths of the first metatarso-digital segment is greater than normal in incipient hallux limitus deformity. METHODS: In a sample of 144 dorsoplantar radiographs under weightbearing conditions (94 of normal feet and 50 of feet with a ...

In this case presentation recognition of multiple triangular lunula unguis led to the diagnosis of the rare nail-patella syndrome (NPS). A single triangular lunula may be traumatic in origin, but multiple, with apex pointing toward the free edge of the nail, must be considered part of the NPS especially when ...

Arterial vasodilatation is one of the most important characteristics of cirrrhosis and portal hyptertension. Nowadays, it has been known that progressive vasodilatation is an essential factor contributing to hyperdynamic circulation and multiple organ dysfunction in liver cirrhosis. Over the past decades, numerous investigations have originated from the clinical observations. Clinicians ...