Endoscopic manometry was performed to evaluate the motor activity of the sphincter of Oddi (OS) in six patients with Lemmel's syndrome, four of whom had acute cholangitis and two of whom had acute pancreatitis. As controls, 24 patients undergoing cholecystectomy without juxtapapillary duodenal diverticula (JPD) for cholelithiasis or cholesterol polyps ...

The pathogenesis of thrombocytopenia in patients with thrombocytopenia with absent radii (TAR) syndrome has not been clarified yet. This is the first report of a Japanese patient with TAR syndrome. We studied his megakaryopoiesis in vitro and serum levels of thrombopoietin (TPO). Serum levels of TPO in the patient with ...

OBJECTIVE: The authors noted that many of their patients with the floppy eyelid syndrome had a unique finding of eyelash ptosis and lashes that curled in many directions. The purpose of this study was to determine how many of these patients had this physical finding. DESIGN: Case series. PARTICIPANTS: The ...

The SHAFT syndrome is a factitious disorder in which a patient manipulates the surgeon to perform operations to fulfill his or her psychological needs. The acronym describes patients who are sad, hostile, anxious, frustrating, and tenacious. A chart review from January 1990 to June 1996 was undertaken to provide a ...

BACKGROUND: The nature of the cellular abnormality causing hypokalemia, hypotension, and hypovolemia in Bartter's and Gitelman's syndromes is still being debated. In fact, despite the recent descriptions of an array of nonconservative missense or point mutations in some ion transporters and in K+ channel, the lack of detectable defects in ...

OBJECTIVES: To assess the usage of carbon fibre orthoses in assisting post-polio syndrome patients who reported advancing weakness and difficulty in maintaining their independent ambulatory status. DESIGN AND INTERVENTIONS: Carbon fibre orthoses that are 30% lighter than metal braces were constructed. SUBJECTS: Thirty patients who complained of difficulty in maintaining ...

Among patients who receive cochlear implants, those with Cogan's syndrome make a unique group. On one hand they are part of the post-lingual patients and good results can be anticipated. On the other hand, their basic illness is thought to have an autoimmune aetiology and for that reason more susceptible ...

PURPOSE: The purpose of this investigation is to determine the characteristics of the history, physical examination, chest radiograph, and ECG, and the ventilation/perfusion (V/Q) lung scan probability in patients with pulmonary embolism (PE) stratified according to their presenting syndrome. BACKGROUND: In considering a possible diagnosis of acute PE, it is ...

A patient with Lambert-Eaton myasthenic syndrome (LEMS) presented with a bilateral ptosis that improved transiently after sustained upgaze. The contralateral ptosis became aggravated on manually lifting either eyelid with and without fixation (enhanced ptosis). Enhanced ptosis is a common finding in many patients with ptosis resulting from myasthenia gravis; however, ...

Bilateral frontal and parietal opercular lesions cause a syndrome characterized by paralysis of the masticatory, facial, pharyngeal, and tongue muscles (the anterior opercular syndrome). The anterior opercular syndrome can occur in patients with herpes simplex encephalitis (HSE), but in most of these patients the diagnosis of HSE was not confirmed. ...

BACKGROUND: The combination of generalized broken ("racemose") livedo and cerebrovascular accidents is referred to as "Sneddon's syndrome". Although several pathogenetic factors have been suggested the aetiology of Sneddon's syndrome is unknown. Furthermore, considerable variability of patient characteristics gives rise to the question whether "Sneddon's syndrome" denotes a homogeneous disease entity ...

The article describes the culture bound syndromes found amongst a sample of 40 psychiatric patients seen at Umzimkulu Hospital serving mainly Xhosa speaking people. A CBS could be identified in 15 of these patients. CBS similar to four of the six syndromes found in these patients were described in DSM ...

OBJECTIVE: The objective of our study was to describe the ophthalmic features and histologic eyelid findings of Melkersson-Rosenthal syndrome. DESIGN: Three patients with eyelid edema underwent eyelid biopsy to establish the diagnosis of Melkersson-Rosenthal syndrome. RESULTS: Of the three patients, only one patient manifest the classic triad of facial edema, ...

AIMS: To determine the relation between dry eye and Meige's syndrome. METHODS: 325 patients with dry eye were divided into those responsive to topical and other forms of treatment (n = 276) and those who were not (n = 49). A neuropsychiatric examination was performed to check for Meige's syndrome ...

Five of 8 patients with rhabdomyolysis treated at our hospital following the Great Hanshin Earthquake were diagnosed with crush syndrome. One patient with crush syndrome and 3 patients with rhabdomyolysis and no renal dysfunction recovered with conservative therapy, while 1 crush syndrome patient recovered with peritoneal dialysis (PD). Of the ...

AIMS/BACKGROUND: The syndrome of ocular histoplasmosis is usually prefaced by "presumed' as the aetiology is not yet clear. The aim of this study was to evaluate the clinical features of a similar ocular syndrome in the Netherlands where the fungus Histoplasma capsulatum is not endemic. METHODS: A retrospective multicentre study ...

PURPOSE: Patients with Williams syndrome have been found to have a high prevalence of strabismus. This may be due to a primary sensory abnormality. The purpose of this study was to determine the prevalence of subnormal binocular vision in patients with Williams syndrome. METHODS: Patients being followed in an interdisciplinary ...

The objective of this work was to evaluate the frequency and features of Jaccoud's syndrome of the hands in patients with overlap syndrome. Twenty-three patients with overlap syndrome were prospectively evaluated by means of a complete physical examination, serological assessment, and hand X-rays. The presence of Jaccoud's syndrome was defined ...

Strabismus is a frequently recognized manifestation of Williams syndrome [Greenberg and Lewis, 1988: Ophthalmology 95:1608-1612; Kapp et al., 1995: Am J Ophthalmol 119:355-360]. We recently evaluated the ophthalmologic function of 12 patients with Williams syndrome (WS), with an emphasis on binocularity. Four of 12 patients (33%) had measurable strabismus. Of ...

The problem of proper diagnosis, patient's status and disease progression is very actual for autoimmune diseases. Still the diagnosis of Sjogren's syndrome is more state of art than of science. Our preliminary investigations showed that serum fibronectin of elevated molecular weight may be probably considered as one of the diagnostic ...

The hearing complaints in patients with King-Kopetzky syndrome were studied by use of the open-ended hearing problem questionnaire. The main findings are that complaints were commonly focused on the categories of 'live speech' and 'electronic speech' difficulties in patients with King-Kopetzky syndrome, particularly the auditory difficulties of speech in noise ...

In a patient with Hurler-Scheie syndrome, a type of mucopolysaccharidosis (I H/S), an initial presentation was grouped papules on the extensor surfaces on the upper portions of the arms and legs. Other physical findings included progressive flexion contractures and mild developmental delay. The patient had deficient alpha-L-induronidase activity, and electron ...

Recently, we established a new category of photosensitive disorder termed UVs syndrome. Cells from patients with UVs syndrome have a similar UV sensitivity as xeroderma pigmentosum (XP) cells, but have a normal level of unscheduled DNA synthesis (UDS) unlike XP. UVs syndrome is distinct from Cockayne syndrome (CS) or XP ...

Felty's syndrome is characterized by neutropenia, splenomegaly, and recurrent infection in patients with rheumatoid arthritis. We used recombinant granulocyte colony stimulating factor (rGCSF) in a patient with Felty's syndrome and recurrent sepsis. rGCSF induced a statistically significant increase in the patient's absolute neutrophil and total white blood cell counts. During ...

To determine whether endothelial cells are injured in vibration syndrome, we measured plasma levels of thrombomodulin (TM) in 100 patients with this syndrome using one-step sandwich enzyme immunoassay. Plasma level of TM in patients with vibration syndrome was significantly higher than that in normal control (p < 0.0001). There was ...

In 17 patients (eleven males, six females) with Morquio-Brailsford syndrome (mucopolysaccharidosis IV) we have used onlay femoral and tibial autografts placed posteriorly and secured to the laminae of C1 and C2 to obtain satisfactory occipito-C1/C2 posterior fusion. They were immobilised postoperatively in a halo-plaster body jacket for four months. The ...

Down syndrome patients have characteristic ocular findings and associated problems and should have periodic ophthalmologic examinations. The ocular abnormalities of Down syndrome are, for the most part, amenable to treatment and significant visual loss should rarely occur in these patients. Early recognition and treatment will minimize added problems of visual ...

A series of patients with the squalor syndrome who were admitted to a psychogeriatric ward were compared with those without the syndrome. Patients with squalor syndrome received a greater number of services prior to admission, were less likely to be on psychotropic medication prior to admission, had longer length of ...

We investigated patients affected by Bartter's syndrome in the attempt to localize the intracellular defect mediating the reduced intracellular Ca2+ mobilization that may be responsible for the decreased vascular reactivity characteristic of Bartter's syndrome. Using the formylmethionyl-leucyl-phenylalanine (fMLP) receptor system, which causes, intracellular calcium release, we investigated fMLP-stimulated intracellular inositol ...

Pharmacologically induced miosis can inhibit exercise-induced anterior chamber pigment dispersion in patients with the pigment dispersion syndrome. Long-term inhibition of pigment dispersion in these patients could delay or prevent the development of glaucoma. Unfortunately, most commercially available miotic medications are poorly tolerated by these patients due to their visual side ...

OBJECTIVE: To determine the major causes of morbidity and mortality in the autosomal recessive Wolfram syndrome, which is defined by diabetes and bilateral progressive optic atrophy with onset in childhood or adolescence. RESEARCH DESIGN AND METHODS: We abstracted and reviewed the medical records of 68 confirmed cases of Wolfram syndrome ...

Patients with peptic ulcer disease who do not have Helicobacter pylori infection or a history of NSAID use may have the syndrome. Acid secretion can be controlled medically, and tumor resection may be curative in selected patients.

The hypoxaemia of hepatopulmonary syndrome, seen in severe chronic liver dysfunction, occurs as a result of precapillary pulmonary arterial dilatation and arteriovenous communications. These abnormalities contribute to the mismatch between ventilation and perfusion, and the right to left blood flow shunting. Nitric oxide (NO) is a powerful vasodilator concerned with ...

Variable degrees of macroglossia have been noted in patients with Beckwith-Wiedemann syndrome. Past studies have shown that a major effect of the macroglossia is protrusion of dentoalveolar structures, resulting in an anterior open bite and a prognathic mandibular appearance secondary to an abnormally obtuse gonial angle and increased effective mandibular ...

BACKGROUND AND PURPOSE: Although there have been sporadic reports of lacunar syndromes due to pontine base infarction, studies of clinical-radiological correlation in sufficient numbers of patients have not yet been reported. METHODS: We studied the clinical features of 37 patients with acute infarcts that mainly involved the base of the ...

A series of destructive changes occurring in the jaws of patients wearing a complete maxillary denture opposed by a mandibular distal extension removable partial denture have been described as the combination syndrome. However, the syndrome does not occur in all patients. Those patients who have not developed signs of the ...

The Schinzel-Giedion syndrome is characterized by severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations. So far, 20 patients have been reported. This is the first report of the syndrome demonstrated in Oriental patients. In surviving patients, severe growth and developmental deficiency is a common finding.

Usher's syndrome, type 3 (USH3) is characterized by progressive hearing loss. Usher's syndrome, type 3 has been supposed to be rare, occurring in 2% to 4% of all patients with Usher's syndrome. In a nationwide study we collected data on 229 patients with Usher's syndrome in Finland. Definite cases of ...

PURPOSE: To evaluate possible differences in the prevalence of clinically detectable foveal lesions between patients with type 1 and type 2 Usher's syndrome. METHODS: Records of 48 patients with type 1 and 98 patients with type 2 Usher's syndrome were retrospectively evaluated for the presence of a foveal lesion. The ...

Tetralogy of Fallot (TF) is a congenital conotruncal heart defect commonly found in DiGeorge (DGS) and velo-cardio-facial (VCFS) syndromes. The deletion of chromosome 22q11 (del22q11) is a well established cause of DGS and VCFS, and it has been demonstrated also in sporadic or familial cases of TF. In order to ...

Patients with Apert's syndrome typically exhibit craniosynostosis, exorbitism, midface hypoplasia, and symmetric syndactyly. There have also been occasional descriptions of the variable dysmorphology of the inner surface of the calvarium. We present a patient with Apert's syndrome who had an intracranial herniation of a portion of the frontal lobe through ...

PURPOSE: Williams syndrome is a rare genetic disorder, consisting of mental retardation, supravalvular aortic stenosis, elfin facies, and specific ocular findings, including strabismus. We undertook this study to evaluate the characteristics of the strabismus in Williams syndrome. METHODS: We examined 32 patients with Williams syndrome to determine the prevalence and ...

Cotard's syndrome is characterized by the presence of nihilistic delusions. A retrospective case note study of 349 Chinese psychogeriatric patients in Hong Kong showed a prevalence of 0.57% of the syndrome. The two patients identified were both females with major depression. Case vignettes of these patients were presented and the ...

Duane's retraction syndrome is sometimes associated with developmental ocular and extraocular abnormalities. This disorder may also be present in association with specific malformative syndromes. The authors report the clinical features of a seven-year-old female affected by Duane's retraction syndrome (D.R.S.), rectoperineal fistula, imperforate anus and other congenital malformations. From two ...

We describe two children who had Fisher syndrome subsequent to Campylobacter jejuni enteritis. The C. jejuni isolates from both patients, who lived in different areas, belonged to PEN 2: LIO 4. One patient had the following human leukocyte antigens (HLAs): HLA-A24, 33; B44, 52; DQ1; and DR2, 6 antigens. Another ...

In a series of 25 Japanese patients with Rubinstein-Taybi syndrome, we screened, by high-resolution GTG banding and fluorescence in situ hybridization of a cosmid probe (RT1, D16S237), for microdeletions associated with this syndrome. In one patient, a microdeletion was demonstrated by in situ hybridization, but none were detected by high-resolution ...

Muckle-Wells syndrome (MWS) is a rare condition characterized by urticaria, arthralgias, deafness and amyloid nephropathy. The arthropathy is poorly documented. We describe the arthropathy occurring in four cases of MWS and discuss the management. Each patient developed recurrent bouts of transient synovitis. One patient developed a persistent sterile pyoarthrosis.

Shoulder impingement syndrome is commonly encountered in orthopaedics. In a blinded retrospective study, magnetic resonance imaging and roentgenographic signs in 41 patients with clinical signs of impingement syndrome were compared with 40 control patients. Statistically significant differences between the groups included the absence of subarcromial fat, as well as the ...

OBJECTIVE: To determine the frequency of various causes of orthostatic hypotension. DESIGN: Survey. SETTING: Tertiary referral center. PATIENTS: One hundred patients with moderate to severe orthostatic hypotension. RESULTS: Twenty-seven percent of the patients had primary autonomic failure, 35% had secondary autonomic failure, and 38% had hypotension without evidence of generalized ...

Synthesis of glycosaminoglycans (GAGs) by fibroblasts derived from seven patients with Down's syndrome, five patients with Edwards' syndrome, and two patients with Patau's syndrome were studied in cell culture. The aneuploid strains were compared with diploid fibroblasts from age-matched controls. In terms of hyaluronic acid and sulfated GAG synthesis, the ...