Primary Sjögren's syndrome (PSS) with central nervous system involvement may mimic the manifestations of multiple sclerosis (MS). The prevalence of PSS in MS patients varies in the published literature (0-16.6%), but has not yet been investigated in Asia, having a much lower MS prevalence than Western countries. Twelve consecutive patients ...

We describe a case of the posterior interosseous nerve (PIN) syndrome in a patient with gout. Exploration of the PIN revealed multiple hourglass-like constriction of the PIN, which did not correspond to any extrinsic compressing structures. Hourglass-like constrictions of the PIN is one of the causes of the painful PIN ...

Gorlin's syndrome (naevoid basal cell carcinoma) is an autosomal dominant tumour-predisposition syndrome. It typically consists of multiple basal cell carcinomas (BCCs) of the skin, odontogenic keratocysts of the jaw, various skeletal abnormalities and lamellar falx calcifications. Four patients with multiple facial and trunk BCCs (superficial and nodular) consistent with Gorlin's ...

Cerebellar syndrome is one of the most disabling developments in multiple sclerosis (MS). In neurodegenerative disorders, cerebellar syndrome is thought to be related to a neurochemical deficit of 5-hydroxytryptamine (5-HT). Previous studies found that a levorotatory form of 5-hydroxytryptophan, a 5-HT precursor, and ondansetron, a 5-HT(3) receptor antagonist, decreased cerebellar ...

Multiple endocrine neoplasia type II B or the mucosal neuroma syndrome is an autosomal dominant hamartoneoplastic syndrome. This is a report of a 17 year old female who presented with mucosal neuromas at age 7 years and had surgical excision of the lesion. Ten years later (at age 17 years) ...

A nonlethal form of multiple pterygium syndrome (MPS) was diagnosed prenatally at 16 weeks of gestation with associated Klinefelter syndrome in the same fetus. The ultrasound findings were cystic hygroma, hypertelorism, micrognathia, low-set ears, flexion contractures of upper and lower extremities and rocker-bottom foot. Genetic amniocentesis revealed a 47,XXY karyotype. ...

PURPOSE: To study the clinicopathological change on "Multiple Evanescent White-dot Syndrome (MEWDS)" through fundus angiography analyses. METHODS: Examining the case with fluorescein angiography (FFA) and indocyanine green angiography (ICGA), visual field and following up for 15 months. RESULTS: There exist multiple white dots in the fundus photo and angiography. The ...

Studies in drosophila and animal models have shown that the phosphoinositide-3-kinase (PI3-kinase) axis plays a central role in normal development, defining the number and size of cells in tissues. Dysfunction of this pathway leads to growth anomalies and has been established to play a key role in the pathogenesis of ...

Gilbert's syndrome is characterized by mild unconjugated hyperbilirubinemia. The molecular basis of this syndrome usually concerns an additional dinucleotide insertion (TA) in the A(TA)(n)TAA configuration residing in the promoter region of the UGT1 A1 gene. This configuration may vary in length; the "n" represents the different number of TA repeats. ...

Haliangicin is a beta-methoxyacrylate-type polyene antibiotic isolated from the unique marine myxobacterium Haliangium ochraceum. A further investigation of the extract of this microorganism has resulted in the isolation of haliangicin as well as its geometrical isomers. The configuration of the epoxide in haliangicin, which was unknown previously, was determined in ...

The army ant syndrome of behavioral and reproductive traits (obligate collective foraging, nomadism, and highly specialized queens) has allowed these organisms to become the premiere social hunters of the tropics, yet we know little about how or why these strategies evolved. The currently accepted view holds that army ants evolved ...

The authors report the neuropathologic findings in a case of Sneddon's syndrome. There were multiple small, predominantly cortical, infarcts, with focal hyperplasia and fibrotic occlusion of arterial vessels in the superficial white matter, cortex, and leptomeninges. A very occasional arterial thrombus was seen. These findings suggest that Sneddon's syndrome is ...

Both in geriatric and internal medicine journals, and in medical textbooks certain (aggregates of) symptoms are labelled as 'geriatric syndromes'. In frail elderly patients a large number of diseases present with well-known and highly prevalent atypical symptoms (e.g. immobility, instability, impaired cognition and incontinence), which are referred to as geriatric ...

Multiple sclerosis (MS) is a fairly common condition that affects approximately 350,000 people in the United States. It is associated with various neuropsychiatric symptoms including cognitive and behavioral symptoms. However, visual hallucinations are rare in multiple sclerosis without the presence of cognitive deficits. We are describing the case of a ...

Lassueur-Graham Little-Piccardi (LGLP) syndrome is a distinctive entity associating a scarring patchy alopecia of the scalp, a non-cicatricial axillary and pubic hair loss and a lichenoid follicular eruption. We present a 20-year follow-up of a demonstrative case, which had begun as typical lichen planus. In the literature, the relationship with ...

Subcortical ischemic vascular disease and dementia (SIVD) incorporate small vessel disease as the chief vascular etiology, lacunar infarct and ischemic white-matter lesions (WMLs) as primary type of brain lesions, subcortical location as the primary location of lesions, and subcortical syndrome as the primary clinical manifestation. It incorporates two clinical entities: ...

Gorlin-Goltz syndrome, also referred to as naevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant skin disease with complete penetrance and inconstancy of the four major findings: multiple naevoid basal cell carcinomas (BCCs), pits on palms and soles, skeletal abnormalities (for example, jaw cysts), and ectopic calcification. The treatment ...

For a number of years MDL products have exposed both 166 bit and 960 bit keysets based on 2D descriptors. These keysets were originally constructed and optimized for substructure searching. We report on improvements in the performance of MDL keysets which are reoptimized for use in molecular similarity. Classification performance ...

A 50-year-old woman presented with multiple skin-coloured facial papules. There was a family history of similar lesions. Histology of one of these papules was consistent with fibrofolliculoma. Multiple fibrofolliculomas together with flexural acrochordons suggested the diagnosis of Birt-Hogg-Dubé syndrome. Investigations to exclude associated disease revealed changes consistent with multinodular goitre ...

BACKGROUND: Fibrofolliculomas and trichodiscomas are benign dermal neoplasms that likely derive from the mantle of the hair follicle and can occur sporadically or in association with Birt-Hogg-Dube syndrome (BHDS). Little is known about the pathogenesis and immunophenotypic properties of these entities. METHODS: We investigated the histomorphologic and immnophenotypic properties of ...

Erdheim-Chester syndrome is a rare multisystem disease in which progressive xanthogranulomatous infiltration of several tissues are seen. Knee and leg pain are the most common symptoms and bilateral symmetric sclerosis of metaphyseal region of long bones of the lower extremity is typical. Histologically, it resembles Langerhans cell histiocytosis (LCH). However, ...

Escobar syndrome is a rare condition with autosomal-recessive inheritance, characterised by multiple pterygia, kyphoscoliosis, multiple joint contractures and craniofacial dysmorphisms. A number of other abnormalities are also attributed to the syndrome. Here, we present a case of isolated extrinsic extensor-tendon hypoplasia of the right index finger in a 7-year-old patient ...

Sezary syndrome (SS), is described as the classical triad of pruritic erythroderma, lymphadenopathy, and presence of more than 10% of circulating Sezary cells in the peripheral blood. We report on unusual case of advanced cutaneous T - cell lymphoma with classical haematological and histopathological features of Sezary syndrome, but lacking ...

Fks1p and Fks2p are related proteins thought to be catalytic subunits of the beta-1,3-glucan synthase. Analysis of fks1 delta mutants showed a partial K1 killer toxin-resistant phenotype and a 30% reduction in alkali-soluble beta-1,3-glucan that was accompanied by a modest reduction in beta-1,6-glucan. The gas1 delta mutant lacking a 1,3-beta-glucanosyltransferase ...

Basaloid follicular hamartoma is an uncommon neoplasm with distinctive histopathological findings. It presents as four distinctive clinical forms: a solitary papule, a localized plaque of alopecia, a localized linear and unilateral type, and generalized papules with associated alopecia and myasthenia gravis. Histologically, basaloid follicular hamartomas are characterized by thin branching ...

Ogilvie's syndrome is characterized by physical examination and radiologic findings indicative of mechanical obstruction but in which no physical obstructive process can be found. Many factors have been associated with this syndrome which include electrolyte imbalance, systemic infection, drugs, and occasionally, neurologic disease. A case of acute colonic pseudoobstruction is ...

Multiple sclerosis (MS) can present with many clinical pictures, but only rarely as a lacunar syndrome. The following case presentation is of multiple sclerosis with initial presentation as ataxic hemiparesis (AH), indistinguishable from the vascular syndrome. This case serves to illustrate that even classic lacunar syndromes can actually be the ...

A 22-year-old female patient with acute monocular scotomata after an upper respiratory infection and the fluorescein angiographic findings consistent with the diagnosis of multiple evanescent white dot syndrome (MEWDS) is described. Unlike full-field ERG, which shows a generalized depressed signal in MEWDS, the authors showed areas of depressions corresponding to ...

We report a case of a patient with the triad of retinoblastoma, dysplastic naevus syndrome (DNS) and multiple cutaneous melanomas. The combination of retinoblastoma and DNS is a significant risk factor for the development of cutaneous melanoma. This risk extends to family members. We recommend that survivors of (inherited) retinoblastoma ...

It is often difficult to isolate the origin of acute weakness in the critically ill population because of multiple etiologies. Aminoglycosides, corticosteroids, and neuromuscular blockers frequently are implicated as the source of acute weakness. Recently, critical illness polyneuropathy (CIP), a syndrome of unknown etiology, was added to the differential diagnosis. ...

To consolidate the spectrum and frequency of parasite-related rheumatic syndromes, which have largely been regarded as exceedingly rare by the general medicine, infectious disease, and rheumatology literature. A MEDLINE search was performed for articles on rheumatic syndromes related to parasitic infections published from 1966 through December 2000. Identified articles included ...

POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, skin disorders) is a rare multisystemic disease associated with plasma cell dyscrasia. A 68-year-old woman with chronic renal insufficiency and arterial hypertension included in her medical history was admitted to the hospital with confusion, somnolence and asthenia. She presented ascites, hepatosplenomegaly, leg oedema, ...

The multiple enchondromas and hemangiomas of Maffucci syndrome affect the skin and skeletal systems. The disease develops slowly, with enlargement of enchondromas and hemangiomas occurring during the first 2 decades of life. Effects of the disease range from those requiring minor adjustments in activities of daily living to almost total ...

The discovery of two atypical specimens of Rhodnius pictipes Stål, 1872 in French Guiana and the examination of the female holotype of R. amazonicus Almeida, Santos & Sposina, 1973, the only specimen of this species so far known, lead us to propose the rehabilitation of R. amazonicus synonymized with R. ...

An 8-year-old girl with a progressive systemic hemopagocytic syndrome was found to have non-Hodgkin lymphoma (NHL) after multiple nondiagnostic biopsies. Routine histochemistry and flow cytometry demonstrated this to be a peripheral T-cell process and cytogenetics identified a t(2;5)(p23;q35). An extensive evaluation for an infectious agent failed to identify a pathogen. ...

We report a 5-year-old boy presenting with multiple elastic type nevi and osteopoikilosis who was diagnosed as having Buschke-Ollendorff syndrome at an early age. Connective tissue lesions may present as the main symptom of varying clinical entities with different outcomes. Differential diagnosis includes papular elastorrhexis, fibroelastolytic papules of the neck, ...

Nevoid basal cell carcinoma syndrome, also known as Gorlin's syndrome, is a familial autosomal dominant syndrome characterized by multiple basal cell carcinomas, multiple odontogenic keratocysts of the jaws, and skeletal anomalies. Both tumors and malformations of the central nervous system occur with nevoid basal cell carcinoma. Medulloblastoma is the primary ...

We report the case of a patient who presented with disseminated tuberculosis-associated hemophagocytic syndrome (HPS). A 40-year-old man was admitted because of fatigue, fever, and renal dysfunction. Chest radiograph and computed tomography scan showed diffuse reticulonodular shadow, and Mycobacterium tuberculosis was identified. Peripheral blood counts decreased rapidly, and bone marrow ...

Intracranial hypotension syndrome as a complication of diagnostic lumbar puncture is a rarely observed entity. Intracranial hypotension syndrome is characterized by postural headache, neck pain/stiffness, blurred vision, nausea, vomiting, clouding of consciousness, dizziness and vertigo. The majority of cases resolve spontaneously with conservative treatment. Rarely, epidural blood patch is required. ...

We present the clinical, neurophysiological and radiographic findings in a boy with coexisting multiple pterygium syndrome, bilateral periventricular nodular heterotopia (BPNH), mental retardation and epileptic seizures. This constellation has not been previously reported. We discuss the possibility of a new BPNH syndrome associated with multiple pterygium syndrome in our patient.

OBJECTIVE: To evaluate the rates and patterns of comorbidity between behavioral syndromes in adolescents as reported by parents and teachers. Whether the patterns of comorbidity were "epiphenomenal" was also assessed. METHOD: Parents of 854 randomly selected students (response rate = 88%) in Taipei in 1996 completed the Child Behavior Checklist; ...

The dark discoloration of globus pallidus and substantia nigra pars reticularis in the Hallervorden-Spatz syndrome is due to the accumulation of iron. Routine iron stains detect the metal mostly in microglia and macrophages, but scattered neurons are also reactive. Axonal spheroids are characteristic of the disease, and many of these ...

We report a patient with Gardner's syndrome who, in addition to a total colectomy, had multiple excisions of desmoid tumors in both thighs. He presented with left-sided neck swelling and pain. MRI was highly suggestive of desmoid tumors in multiple neck muscles. To our knowledge this is the first description ...

PURPOSE: To discuss the current rationale for the use of specific and nonspecific therapies for thrombotic microangiopathy in thrombocytopenia-associated pediatric multiple organ failure syndromes. Methods: Pertinent PubMed and MEDLINE citations and proceedings of recent critical care meeting presentations were reviewed. RESULTS: Critical care clinicians have reported using antithrombin III concentrate, ...

BACKGROUND: Patients with the atypical mole syndrome have multiple dysplastic nevi that appear to be randomly distributed on certain preferred anatomical sites such as the upper back. These dysplastic nevi are thought to be acquired melanocytic nevi that begin appearing at puberty. To our knowledge, the presence of agminated atypical ...

Soldier defense secretions from samples of Reticulitermes collected in California, Nevada, Arizona, New Mexico, and Georgia were characterized and correlated with cuticular hydrocarbon phenotypes. Twenty-seven cuticular hydrocarbon phenotypes have been defined, and soldier defense secretion (SDS) phenotypes have been described for 25 of these. Forty-five terpenoid compounds were found, including ...

We present here a case of episodic, pure cheiro-oral syndrome caused by a ruptured intracranial dermoid cyst. Cranial magnetic resonance imaging (MRI) using the fat-suppression method revealed a fatty mass lesion in the subarachnoid space of the left parasellar region and multiple lipid droplets in the subarachnoid space over the ...

A 28-year-old woman presented with generalised livedo reticularis, dementia, epilepsy, and pyramidal and extrapyramidal signs. Multiple focal infarcts were seen on MRI. Angiography demonstrated widespread cerebromeningeal angiomatosis with multiple small and medium size arterial occlusions. A lifelong personal and family history of mental handicap in the absence of anticardiolipin antibodies ...

Over the past three decades, there has been an increasing interest in cases of profound muscle weakness in critically ill, mechanically ventilated patients. Potential causes for these acute weakness syndromes are multiple and include disorders of the peripheral nerves, the neuromuscular junction, and muscle (Sliwa, 2000). This article will provide ...

BACKGROUND: Multiple endocrine neoplasia (MEN) type 2b syndrome is accompanied by typical ocular findings; however, the disease is often only diagnosed at an advanced stage by symptoms of C-cell carcinoma or pheochromocytoma and is then fatal in most cases. Therefore, the importance of ophthalmic assessment in making the diagnosis has ...