A 33-year-old, previously healthy male presented with respiratory distress and underwent intubation. A physical examination revealed a holosystolic murmur and pupillary abnormalities. Echocardiography revealed a flail anterior mitral valve leaflet with ruptured chordae and severe mitral regurgitation. The patient underwent urgent mitral valve replacement and tolerated the procedure well. The ...

Here we present two cases, a female and a male patient with Schnitzler-like syndrome. Both patients had two major (monoclonal gammopathy and chronic urticaria) and almost all minor symptoms (e.g. arthralgia, bone pain, fever, etc.) of Schnitzler syndrome. It is considered that interleukine (IL)-1 has important influence on immunopathogenesis of ...

OBJECTIVE: We sought to define the characteristics that distinguish Kawasaki disease shock syndrome from hemodynamically normal Kawasaki disease. METHODS: We collected data prospectively for all patients with Kawasaki disease who were treated at a single institution during a 4-year period. We defined Kawasaki disease shock syndrome on the basis of ...

BACKGROUND AND AIMS: There is an imbalance between Th1 and Th2 in the development and progression of atherosclerosis and in patients with acute coronary syndrome (ACS) including acute myocardial infarction (AMI) and unstable angina. T helper cell type 3 (Th3), which primarily secretes transforming growth factor beta-1 (TGF-beta1), has been ...

Two patients developed the transurethral resection (TUR) syndrome after having absorbed mannitol 5% during TUR of the prostate. Both developed pulmonary edema and became severely hypoatremic (lowest serum sodium 99 and 97 mmol/l, respectively). Hypertonic saline was infused to raise the serum sodium level and plasma volume expansion used to ...

BACKGROUND: Dumping syndrome is a well-described consequence of Roux-en-Y gastric bypass. Although the condition can benefit some patients with morbid obesity, a subset will develop intractable dumping syndrome characterized by symptomatic episodes with most meals. We describe the first series of patients successfully treated endoscopically for intractable dumping syndrome. METHODS: ...

Treatment and prevention studies over the past decade have enrolled patients believed to be at risk for future psychosis. These patients were considered at risk for psychosis by virtue of meeting research criteria derived from retrospective accounts of the psychosis prodrome. This study evaluated the diagnostic validity of the prospective ...

The NEMO syndrome is a primary immunodeficiency with immune and non-immune manifestations. The immune deficiency is heterogeneous showing defects in humoral, innate, and cell-mediated immunity. While the clinical aspects of the immunodeficiency are increasingly well understood, little is known about autoimmune manifestations in NEMO patients. We therefore sought to examine ...

We measured the levels of pro- and anti-inflammatory cytokines in the cerebrospinal fluid (CSF) of 24 patients with West syndrome to clarify whether inflammatory cytokines were involved in the pathophysiology of West syndrome. There was no significant elevation of any of the three pro-inflammatory cytokines, interleukin (IL)-1beta, IL-6, and tumor ...

Two 8-year-old boys presented with complaints of torticollis and pain on neck turning. Both patients had a history of throat infection. Radiography and computed tomography demonstrated atlanto-axial subluxation. The patients were treated under diagnoses of Grisel's syndrome, unilateral or bilateral subluxation of the atlas on the axis associated with infection ...

We report outcomes from laparoscopic adrenalectomy (LA) comparing patients with Cushing's syndrome with those with other adrenal pathology with respect to length of stay (LOS), overall complications, and financial implications. We conducted a retrospective review of 80 continuous patients (103 glands) undergoing LA. The clinical diagnoses were: hypercortisolism (Cushing' syndrome; ...

Two patients presented at the University of Rochester Medical Center with a febrile illness, cytopenias, organ failure (liver failure or respiratory failure), and markedly elevated serum ferritin and sIL-2R. A diagnosis of probable macrophage activation syndrome was made. Both patients failed initial therapy with steroids and cyclosporine, either due to ...

The cardinal feature of myelodysplastic syndromes (MDS) is dysplasia involving one or more myeloid cell lineages. In the present study, we used 4-color flow cytometric analysis to investigate dysgranulopoiesis in bone marrow specimens from 65 patients with MDS. The antigen expression patterns of total neutrophil granulocytes (TNG) and of the ...

Rhinoplasty patients are commonly anxious about their result when the splint is removed. A small group of them, however, are overtly unhappy with their appearance despite objectively satisfactory early results, cannot be reassured about their favorable long-term prognosis, and remain dissatisfied despite objectively satisfactory end results. The authors have termed ...

Nablus mask-like facial syndrome (NMFLS) is a rare microdeletion syndrome with a mask-like facial appearance as the most characteristic feature. In 2000, Teebi, was the first to report on a 4 years old boy affected with NMFLS. Since then two additional patients have been reported. Three years later, with the ...

This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skillful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and thyroid-related ...

Introduction: With the advent of neuroimaging modalities specifically, magnetic resonance imaging (MRI), recognition of developmental defects of posterior fossa has greatly improved. The Aim: Is to delineate the clinical, cytogenetics and radiological features of patients with mid-hindbrain anomalies. Patient and Methods: Twenty-three patients with mid-hind brain malformations were included in ...

BACKGROUND/AIMS: Bleeding esophageal varices are a common complication of portal hypertension in patients with underlying liver disease. Often patients with hepatic cirrhosis have hypersplenism with thrombocytopenia and leukopenia. Felty's syndrome is a disorder where patients with rheumatoid arthritis develop splenomegaly, neutropenia, and on rare occasions, portal hypertension without underlying cirrhosis. ...

BACKGROUND: Griscelli syndrome type 2 (GS2), the X-linked lymphoproliferative (XLP) and the Chédiak-Higashi (CHS) syndromes are diseases that all may develop hemophagocytic syndromes. We wanted to investigate whether the treatment protocols for hemophagocytic lymphohistiocytosis (HLH) can also be used for these syndromes. PROCEDURE: In the HLH-94/HLH-2004 treatment study registries, we ...

Kasabach-Merritt syndrome involves thrombocytopenia, which is usually severe, in association with haemangiomata. We describe two newborn infants who developed life-threatening Kasabach-Merritt syndrome but who were successfully treated. Both had failed to respond adequately to corticosteroids and alpha-interferon. They subsequently received emergency radiotherapy. Both patients had an improvement in their platelet ...

BACKGROUND AND PURPOSE: We aimed to investigate the incidence of May-Thurner syndrome in patients with cryptogenic stroke with patent foramen ovale. METHODS: This was a retrospective study. All consecutive patients with cryptogenic stroke having undergone patent foramen ovale closure from January 1, 2002, to December 31, 2007, at our institute ...

Heparin-induced thrombocytopenia with thrombosis syndrome is an antibody-mediated disorder that has a high mortality in cardiac surgical patients in spite of early diagnosis and management with direct thrombin inhibitors. Plasmapheresis, an extracorporeal technique that has been designed for the removal of large molecular weight substances from the plasma, can remove ...

Microdeletion 22q11 in humans causes velocardiofacial and DiGeorge syndromes. Most patients share a common 3Mb deletion, but the clinical manifestations are very heterogeneous. Congenital heart disease is present in 50-80% of patients and is a significant cause of morbidity and mortality. The phenotypic variability suggests the presence of modifiers. Polymorphisms ...

We report the anesthetic management of esophagectomy for a patient with Alport-leiomyomatosis syndrome. A 23-year-old woman complained of dysphagia and severe chest pain. Her chest X-ray, computed tomography (CT), and magnetic resonance imaging (MRI) showed an enlarged esophagus, in contact with the trachea, heart, aorta, and large vessels. She frequently ...

BACKGROUND: The technology to recognize nucleated red blood cells (NRBC) automatically has only recently been developed. Modern hematology analyzers allow for rapid and accurate NRBC counts. The goal of our study was to evaluate NRBC counts and the concentrations of serum transferrin receptor (sTfR) in patients affected by different thalassemia ...

Deep brain stimulation (DBS) has been used in a small number of patients with Tourette's syndrome and results on tics and comorbidities have been promising. The choice of the DBS target appears to influence the effectiveness; preliminary studies and case reports suggest that certain target areas may be more effective ...

Patients with Eisenmenger syndrome form a small percentage of congenital heart disease patients. The rarity of this syndrome, combined with its complex pathophysiology, account for the insufficient understanding of the principles underlying its proper treatment. The main clinical symptoms are: cyanosis due to secondary erythrocytosis, resulting in increased blood viscosity, ...

Neurological involvement occurs in approximately 20% of patients with primary Sjögren's syndrome. Although neurological symptoms can affect the peripheral nervous system and the central nervous system, the most frequent symptom is polyneuropathy. Small fiber neuropathy (SFN) is a form of painful peripheral polyneuropathy that is common in patients with diabetic ...

BACKGROUND: Cancer of the oral cavity is rare and unusual in Down's syndrome patient. The over all risk is similar to that in adult population. CASE PRESENTATION: This case report describes a 27 years old male with Down's syndrome, non-smoker, who developed a poorly differentiated squamous cell carcinoma of the ...

Patients with lipodystrophy experience selective or generalized atrophy of adipose tissue. The disruption of lipid metabolism results in an increased risk for development of metabolic syndrome and coronary artery disease. Currently, the mutations responsible for approximately half of lipodystrophy patients are known, but new techniques and examination of different types ...

To find out clues to differentiate between polymyalgia rheumatica (PMR) and other diseases that mimic PMR. We studied Japanese patients with PMR (n = 7), pseudogout (n = 1), remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome (n = 1), and post-infectious polyarthritis (n = 1). The distribution of ...

The presence of visceral hemangiomas in the syndrome of multiple enchondromas and subcutaneous hemangiomas, also named Maffucci syndrome, is exceedingly rare; until now noncutaneous hemangiomas have been described in 4 patients: they were found in the tongue in one patient, in the oral cavity in the second patient, in both ...

To report a case of recurrent nummular keratitis in a pediatric patient with Hyperimmunoglobulinemia D syndrome. A retrospective chart review. A 14-year-old boy with Hyperimmunoglobulinemia D syndrome (HIDS) presented with photophobia and ocular irritation concomitant with disease exacerbation. He was found on exam to have significant nummular keratitis, which responded ...

Periods of recovery were examined in patients with and without deficit syndrome schizophrenia. Fifty-six patients with schizophrenia were studied, 39 of whom were divided into deficit and nondeficit syndrome schizophrenia subtypes using a proxy method. We also studied 39 nonpsychotic depressive comparison patients. Patients were evaluated as part of the ...

OBJECTIVE: A series of patients with anti-Hu-associated brainstem encephalitis is reviewed to better define the clinical presentation and to improve its recognition. METHODS: Data were collected from 14 patients diagnosed by members of the Paraneoplastic Neurological Syndromes Euronetwork, and eight patients from the literature who presented with isolated brainstem encephalitis ...

To our knowledge this is the first reported case of postural orthostatic tachycardia syndrome (POTS) in a patient with Klinefelter syndrome. We describe a classic clinical presentation of POTS in an adolescent male with Klinefelter syndrome. Although the etiology of POTS appears to be multifactorial, there is a strong female ...

OBJECTIVE: Anti-Hu antibodies (Hu-Ab) and anti-CV2/CRMP5 antibodies (CV2/CRMP5-Ab) have been identified in association with paraneoplastic neurological disorders. However, it is not clear whether these antibodies are associated with specific neurological symptoms or are only markers of anti-cancer immune reaction. METHODS: To address this question, we compared 37 patients with CV2/CRMP5-Ab ...

OBJECTIVE: Anti-Hu antibodies (Hu-Ab) and anti-CV2/CRMP5 antibodies (CV2/CRMP5-Ab) have been identified in association with paraneoplastic neurological disorders. However, it is not clear whether these antibodies are associated with specific neurological symptoms or are only markers of anti-cancer immune reaction. METHODS: To address this question, 37 patients with CV2/CRMP5-Ab and 324 ...

Sotos Syndrome is characterized by macrocephaly, overgrowth, and developmental delay, and more than 300 patients have been reported worldwide to date. The authors reviewed the clinical characteristics of 8 patients with Sotos Syndrome in Korea for a new understanding and treatment strategies. The medical records of a total of eight ...

Although its exact mechanism is unclear, anaemia is well recognised as a feature of hypopituitarism; and anaemia is associated with Sheehan's syndrome (SS). We aimed to evaluate the frequency and severity of anaemia and other haematological changes among patients with Sheehan's syndrome, in comparison with healthy controls. Sixty-five SS patients ...

BACKGROUND: Harlequin syndrome is a curious phenomenon in which one half of the face fails to flush during thermal or emotional stress as a result of damage to vasodilator sympathetic fibers. Anecdotal reports suggest that some of these patients have abnormal pupils. In this study we set out to systematically ...

Fentanyl is frequently used for analgesia during emergency procedures. We present the cases of 2 patients who developed agitation and delirium after intravenous fentanyl administration. These patients were chronically taking selective serotonin reuptake inhibitors (SSRIs). Both developed neuromuscular examinations consistent with serotonin syndrome, a diagnosis that must be established on ...

Today total cavopulmonary connection (TCPC) is the treatment of choice for long term palliation of patients with hypoplastic left heart syndrome (HLHS). We report a new, relatively simple and effective method to occlude a modified baffle (TCPC) fenestration via the left hepatic vein in two patients with HLHS with the ...

Sj?gren's syndrome is both an organ-specific and a systemic autoimmune disease. Patients with dry eyes and dry mouth usually receive symptomatic treatment. Topical cyclosporine A may be administered to patients with dry eyes. The efficacy of muscarinic agonists, such as pilocarpine and cevimeline, in increasing salivary and lacrimal flow and ...

Enhanced external counterpulsation (EECP) was used to treat 30 patients with refractory angina due to cardiac Syndrome X, with an initial improvement in CCS angina class (3.57 to 1.43; p<0.001) and regional ischemia in all treated patients. At a mean of 11.9 months follow-up, 87% of patients had sustained improvement ...

BACKGROUND: Favorable results of treatment with bosentan in patients with Eisenmenger syndrome are available. However, data in Down patients are lacking. In this study, we evaluate the therapeutic role of bosentan treatment in Down patients with Eisenmenger syndrome. METHODS: In this open-label study, 24 Down patients (>18 years) with Eisenmenger ...

Burning mouth syndrome (BMS) can be a frustrating condition to the patient and the practitioner because the patient often experiences a continuous burning pain in the mouth without any apparent clinical signs, but the practitioner is unable to definitively diagnose symptoms even with the use of diagnostic testing or imaging. ...

The plastic surgeon rarely encounters patients expressing factitious disorders. Through their incredible imagination, these patients conjure numerous lesions for themselves and willingly accept to undergo invasive diagnostic procedures and risky therapies. We report four cases of Munchausen′s syndrome in the field of plastic surgery and follow with a discussion of ...

BACKGROUND: In impingment syndrome with associated stiff shoulder the general protocol of management is to conservatively treat the stiff shoulder followed by operative treatment of the impingement syndrome. This consecutive prospective study was carried out to evaluate the functional outcome of surgical management for impingement syndrome associated with stiff shoulder ...

OBJECTIVES: Patients treated for obstructive sleep apnea syndrome (OSAS) with nasal continuous positive airway pressure (nCPAP) often have side effects and poor compliance. Our objectives were to explore their side effects when treated with nCPAP and to validate the association of a side effect syndrome with the outcomes of sleep ...