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1

A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case report  

PubMed Central

Introduction There are currently 23 missense point mutations and one 4 basepair deletion spanning different mitochondrial genes associated with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS). The spectrum of mitochondrial DNA mutations in Arab patients with MELAS is largely unknown. Case presentation A standard clinical examination was carried out on a 34-year-old Saudi woman showing clinical features of MELAS. Fresh frozen muscle tissue was subjected to enzyme histochemical analysis. DNA was extracted from her leukocytes and muscle tissue, and the full mitochondrial genome was screened for base substitution mutations and deletions. Additionally, we screened the polymerase gamma-1 nuclear gene for mutations. The patient was negative for the most common m.3243 A>G MELAS mutation. Sequencing the full mitochondrial genome did not reveal any known or potentially pathogenic sequence changes. The polymerase gamma-1 gene was also free from mutations. Conclusion The clinical picture described here typically fits that observed in patients with MELAS or mitochondrial stroke-like events, but mutations in recognized genes (mitochondrial DNA and polymerase gamma-1 gene) were absent. We report the case of a patient with typical clinical features of MELAS, but without an obvious genetic cause. PMID:19946553

2009-01-01

2

Novel Mitochondrial DNA Transversion Mutation in Transfer Ribonucleic Acid for Leucine 2 (CUN) in a Patient With the Clinical Features of MELAS  

Microsoft Academic Search

We describe an 11-year-old Saudi boy who had an encephalopathy suggestive of mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS). We screened his entire mitochondrial DNA coding region and detected one novel transversion point mutation at nt-12299 A > C in the transfer ribonucleic acid for leucine 2 (CUN) that is located in the anticodon loop. We believe that

Khaled K. Abu-Amero; Pinar T. Ozand; Hesham Al-Dhalaan

2006-01-01

3

POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome  

PubMed Central

Background POLG1 mutations have been associated with MELAS-like phenotypes. However given several clinical differences it is unknown whether POLG1 mutations are possible causes of MELAS or give raise to a distinct clinical and genetic entity, named POLG1-associated encephalopathy. Case presentation We describe a 74 years old man carrying POLG1 mutations presenting with strokes, myopathy and ragged red fibers with some atypical aspects for MELAS such as late onset, lack of cerebral calcification and presence of frontal and occipital MRI lesions better consistent with the POLG associated-encephalopathy spectrum. Conclusion The lack of available data hampers a definite diagnosis in our patient as well as makes it difficult to compare MELAS, which is a clearly defined clinical syndrome, with POLG1-associated encephalopathy, which is so far a purely molecularly defined syndrome with a quite heterogeneous clinical picture. However, the present report contributes to expand the phenotypic spectrum of POLG1 mutations underlining the importance of searching POLG1 mutations in patients with mitochondrial signs and MELAS like phenotypes but negative for common mtDNA mutations. PMID:23324391

2013-01-01

4

Clinical Evaluation of the Modular Electromechanical Lock Actuator (MELA) for Above-Elbow Prostheses : A Final Report  

Microsoft Academic Search

Abstract—The Modular Electromechanical Lock Actuator (MELA) is the result of research and development,(R&D) conducted under the direction of Dudley S . Childress, PhD, at the Northwestern University Prosthetics Research Laboratory (NUPRL), Chicago, Illinois . NUPRL, based upon experience with prostheses for persons with high-level, above-elbow amputations, developed the MELA to assist those persons with amputation who experience difficulty in operating

Mary E. Cupo; Saleem J. Sheredos

5

Esophageal Cancer - Featured Clinical Trials  

Cancer.gov

Esophageal Cancer - Featured Clinical Trials The following list shows Featured Clinical Trials for a specific type of cancer. You may also want to view: Multiple Cancer Types - Featured Clinical Trials Supportive Care - Featured Clinical Trials

6

Thyroid Cancer - Featured Clinical Trials  

Cancer.gov

Thyroid Cancer - Featured Clinical Trials The following list shows Featured Clinical Trials for a specific type of cancer. You may also want to view: Multiple Cancer Types - Featured Clinical Trials Supportive Care - Featured Clinical Trials

7

Skin Cancer - Featured Clinical Trials  

Cancer.gov

Skin Cancer - Featured Clinical Trials The following list shows Featured Clinical Trials for a specific type of cancer. You may also want to view: Multiple Cancer Types - Featured Clinical Trials Supportive Care - Featured Clinical Trials

8

Clinical Features, Diagnosis, Pathology  

Microsoft Academic Search

\\u000a This chapter will review the clinical and histopathologic features associated with the presentation and diagnosis of retinoblastoma.\\u000a A thorough appreciation of the differential and a detailed clinical assessments is the cornerstone of arriving at the proper\\u000a diagnosis. Unlike most cancers, retinoblastoma is unique, as tissue is generally not necessary for diagnostic and treatment\\u000a purposes. However, once the eye is enucleated,

P. Chévez-Barrios; D. S. Gombos

9

Other Gastrointestinal Cancers - Featured Clinical Trials  

Cancer.gov

Other Gastrointestinal Cancers - Featured Clinical Trials The following list shows Featured Clinical Trials for a specific type of cancer. You may also want to view: Multiple Cancer Types - Featured Clinical Trials Supportive Care - Featured Clinical

10

Myeloproliferative/Myelodysplastic Disorders - Featured Clinical Trials  

Cancer.gov

Myeloproliferative/Myelodysplastic Disorders - Featured Clinical Trials The following list shows Featured Clinical Trials for a specific type of cancer. You may also want to view: Multiple Cancer Types - Featured Clinical Trials Supportive Care - Featured

11

Intraventricular conduction disturbances and paroxysmal atrioventricular block in a young patient with MELAS.  

PubMed

We present the case of a 36-year-old male patient with MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) who developed intraventricular conduction disturbances and syncopal episodes due to a paroxysmal atrioventricular block. This case suggests that in MELAS, as well as in other mithochondriopathies, intraventricular conduction disturbances and atrioventricular block can be features of the disease. In our case, progression toward atrioventricular block was rapid, suggesting that in MELAS patients presenting with worsening conduction system anomalies, pacemaker implantation has to be considered without delay, irrespective of age. PMID:21085000

Reato, Stefania; Spartà, Sara; D?este, Daniele

2010-11-16

12

A Novel Mutation in the Mitochondrial 16S rRNA Gene in a Patient with MELAS Syndrome, Diabetes Mellitus, Hyperthyroidism and Cardiomyopathy  

Microsoft Academic Search

Using RNase protection analysis, we found a novel C to G mutation at nucleotide position 3093 of mitochondrial DNA (mtDNA) in a previously reported 35-year-old woman exhibiting clinical features of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome together with diabetes mellitus, hyperthyroidism and cardiomyopathy. The patient also had an A3243G mutation in the tRNALeu(UUR) gene and a

Rong-Hong Hsieh; Jei-Yuan Li; Cheng-Yoong Pang; Yau-Huei Wei

2001-01-01

13

Layers in Melas Chasma  

NASA Technical Reports Server (NTRS)

[figure removed for brevity, see original site] Click on image for larger annotated version

This scene of layered deposits is from Melas Chasma, part of the Valles Marineris valley network. The area consists of a series of plateaus and cliffs that form a step-like terrain similar to the Grand Staircase-Escalante region of southwest Utah. The upper-right half of the image covers the highest plateau, and lower cliffs and plateaus step down in elevation toward the lower left of the image. Dunes of dark sand commonly cover the flat plateaus and distinct layers of bedrock are exposed in the cliffs. The orientations of these layers may help scientists to understand how the layers formed and the kind of environment that the layers formed in. Black rectangles on the left side of the image are areas where the image data was lost during transmission from Mars Reconnaissance Orbiter to Earth. This subscene [above] shows a series of boulder tracks on the left side of the image. The boulders fell from the cliffs above and left behind a series of small depressions. Each depression was made as the boulder bounced and rolled along the surface. In many cases, the tracks can be followed to the specific boulder that made them. Also visible in this subscene are cross-sections through the layered bedrock. This bedrock likely formed through settling of sand-sized particles out of the air or out of a body of water that has since drained away. These layers are 'cross-bedded', which means that subsequent layers are not parallel to each other but are instead oriented at an angle to other layers. The fact that these layers are cross-bedded indicates that the sand-sized particles were moved horizontally along the surface as they settled, just like sand dunes or ripples at the bottom of a stream. The size and shape of these cross-beds may help scientists to determine if the layers formed underwater or on land.

Image PSP_001377_1685 was taken by the High Resolution Imaging Science Experiment (HiRISE) camera onboard the Mars Reconnaissance Orbiter spacecraft on November 11, 2006. The complete image is centered at -11.3 degrees latitude, 286.3 degrees East longitude. The range to the target site was 257.7 km (161.0 miles). At this distance the image scale ranges from 25.8 cm/pixel (with 1 x 1 binning) to 51.6 cm/pixel (with 2 x 2 binning). The image shown here [below] has been map-projected to 25 cm/pixel and north is up. The image was taken at a local Mars time of 3:32 PM and the scene is illuminated from the west with a solar incidence angle of 60 degrees, thus the sun was about 30 degrees above the horizon. At a solar longitude of 133.9 degrees, the season on Mars is Northern Summer.

NASA's Jet Propulsion Laboratory, a division of the California Institute of Technology in Pasadena, manages the Mars Reconnaissance Orbiter for NASA's Science Mission Directorate, Washington. Lockheed Martin Space Systems, Denver, is the prime contractor for the project and built the spacecraft. The High Resolution Imaging Science Experiment is operated by the University of Arizona, Tucson, and the instrument was built by Ball Aerospace and Technology Corp., Boulder, Colo.

2006-01-01

14

Treatment options for mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.  

PubMed

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare neurodegenerative disease caused by the decreased ability of cells to produce sufficient energy in the form of adenosine 5'-triphosphate. Although it is one of the most common maternally inherited mitochondrial disorders, its exact incidence is unknown. Caused most frequently by an A-to-G point mutation at the 3243 position in the mitochondrial DNA, MELAS syndrome has a broad range of clinical manifestations and a highly variable course. The classic neurologic characteristics include encephalopathy, seizures, and stroke-like episodes. In addition to its neurologic manifestations, MELAS syndrome exhibits multisystem effects including cardiac conduction defects, diabetes mellitus, short stature, myopathy, and gastrointestinal disturbances. Unfortunately, no consensus guidelines outlining standard drug regimens exist for this syndrome. Many of the accepted therapies used in treating MELAS syndrome have been identified through a small number of clinical trials or isolated case reports. Currently, the drugs most often used include antioxidants and various vitamins aimed at minimizing the demands on the mitochondria and supporting and maximizing their function. Some of the most frequently prescribed agents include coenzyme Q(10), l-arginine, B vitamins, and levocarnitine. Although articles describing MELAS syndrome are available, few specifically target education for clinical pharmacists. This article will provide pharmacists with a practical resource to enhance their understanding of MELAS syndrome in order to provide safe and effective pharmaceutical care. PMID:20973690

Santa, Kristin M

2010-11-01

15

Melas Chasma: A Mars Pathfinder view of Valles Marineris  

NASA Technical Reports Server (NTRS)

A Mars Pathfinder landing site in Melas Chasma (Valles Marineris) would yield significant science return, but is outside present mission constraints. In Melas Chasma, Mars Pathfinder could investigate minimally altered basaltic material, sedimentary deposits, chemical weathering, tectonic features, the highland crust, equatorial weather, and Valles mists. Critical issues include the following: (1) nature and the origin of the Valles interior layered deposits, important for understanding water as a sedimentary and chemical agent, and for the past existence of of environments favorable for life; (2) compositions of little-altered basaltic sands, important for understanding magma genesis and weathering on Mars, and the martian meteorites; and (3) structure and composition of the highland crust, important for understanding Mars' early history .

Treiman, Allan H.; Murchie, Scott

1994-01-01

16

[Clinical features of Wei Yuheng].  

PubMed

Wei Yuheng held that the endogenous miscellaneous diseases are mostly caused by liver diseases, highly stressed the treating method of nourishing yin to generate liver. He claimed that liver deficiency is mostly caused by congenital factors, sexual strain or improper treatment. He criticized that the improper treatment by elder generations mainly was caused by their ignorance of tonifying the liver based on the saying of "no tonifying treatment for the liver". Wei Yuheng's medical theories and clinical experiences are scattered in his book Xu Mingyi Lei'an (Supplement to Classified Case Records of Celebrated Physicians). Wang Mengying collected part of his thoughts and experiences and wrote the book Liuzhou Yihua (Liuzhou Medical Talks). Although Wang Mengying's book could deduce part of the thoughts of Wei Yuheng, it didn't disclose his theories completely. It is known to all that the compound recipe Yiguan Jian is a representative formula of Wei Yuheng to tonify liver yin. Actually, it can be concluded from the analysis of Xu Mingyi Lei'an that he used Fructus Lycii (Gouqi) as a main herb to tonify liver yin in the method of nourishing yin to generate liver. Based on the idea that there are accept, restriction, generation and transformation relationship among the lung, kidney and liver yin, so he also always used Radix Glehniae (Beishashen), Radix Ophiopogonis (Maidong), Radix Rehmanniae Recens (Shengdihuang), and Radix Rehmanniae Preparata (Shudihuang) in his compound recipes. If the yin blood is insufficient, Semen Ziziphi Spinosae (Suanzaoren) should be added. In order to prepare a out way for phlegm-heat caused dy liver yin deficiency, a lubricative, Semen Trichosanthis (Gualouren) was always used and raw Semen Coicis Recens (Shengyiyiren) too. Sichuan Rhizoma Coptidis (Chuanhuanglian) can be used to clear fire-heat, and Fructus Meliae Toosendan (Chuanlianzi) for pain caused by fire-heat. PMID:17096983

Yu, Zhong-yuan

2006-04-01

17

CLINICAL AND MOLECULAR PATHOLOGICAL FEATURES OF SEVERE  

E-print Network

CLINICAL AND MOLECULAR PATHOLOGICAL FEATURES OF SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR Campbell Severe childhood autosomal recessive muscular dystrophy (SCARMD) has recently been identified and inheritance is autosomally recessive, as evidenced by the disease's appearance in either sex. Serum CK

Campbell, Kevin P.

18

Morphological and clinical features of renal amyloidosis  

Microsoft Academic Search

The morphological and clinical findings in 122 patients with renal amyloidosis proved by renal biopsy were studied. A higher incidence of amyloidosis occurred in males than females. Coexisting disorders in addition to amyloidosis were present in 80% of the patients. The nephrotic syndrome was a main clinical feature. No significant differences were observed in the manifestations of amyloid renal disease

T. Watanabe; T. Saniter

1975-01-01

19

[Clinical and morphological features of odontogenic keratocysts].  

PubMed

Clinical, histological and immunohystochemical studies of keratocystic tumors were performed showing differences in proliferative activity and MMP-9 expression scores in orthokeratinized and parakeratinised cysts. These histological features are associated with clinical course and may be used as markers for recurrence probability. PMID:24300701

Semkin, V A; Babichenko, I I; Usachev, E S; Zaretskaia, A S

2013-01-01

20

Melas Chasma, Day and Night.  

NASA Technical Reports Server (NTRS)

This image is a mosaic of day and night infrared images of Melas Chasma taken by the camera system on NASA's Mars Odyssey spacecraft. The daytime temperature images are shown in black and white, superimposed on the martian topography. A single nighttime temperature image is superimposed in color. The daytime temperatures range from approximately -35 degrees Celsius (-31 degrees Fahrenheit) in black to -5 degrees Celsius (23 degrees Fahrenheit) in white. Overlapping landslides and individual layers in the walls of Melas Chasma can be seen in this image. The landslides flowed over 100 kilometers (62 miles) across the floor of Melas Chasma, producing deposits with ridges and grooves of alternating warm and cold materials that can still be seen. The temperature differences in the daytime images are due primarily to lighting effects, where sunlit slopes are warm (bright) and shadowed slopes are cool (dark). The nighttime temperature differences are due to differences in the abundance of rocky materials that retain their heat at night and stay relatively warm (red). Fine grained dust and sand (blue) cools off more rapidly at night. These images were acquired using the thermal infrared imaging system infrared Band 9, centered at 12.6 micrometers.

Jet Propulsion Laboratory, a division of the California Institute of Technology in Pasadena, manages the 2001 Mars Odyssey mission for NASA's Office of Space Science in Washington, D.C. Investigators at Arizona State University in Tempe, the University of Arizona in Tucson and NASA's Johnson Space Center, Houston, operate the science instruments. Additional science partners are located at the Russian Aviation and Space Agency and at Los Alamos National Laboratories, New Mexico. Lockheed Martin Astronautics, Denver, is the prime contractor for the project, and developed and built the orbiter. Mission operations are conducted jointly from Lockheed Martin and from JPL. Aviation and Space Agency and at Los Alamos National Laboratories, New Mexico. Lockheed Martin Astronautics, Denver, is the prime contractor for the project, and developed and built the orbiter. Mission operations are conducted jointly from Lockheed Martin and from JPL.

2002-01-01

21

Nasolabial cysts: Clinical features, diagnosis, and treatment  

Microsoft Academic Search

The aim of this study was to review our experience, examine the clinical and pathological features of nasolabial cysts, and to provide a basis for the diagnosis and treatment in an Asian population. We made a retrospective review of patients with nasolabial cysts who were treated at the Department of Otolaryngology, Tan Tock Seng Hospital between January 1999 and December

Heng-Wai Yuen; Cheow-Yew Lee Julian; Chow-Lin Yeak Samuel

2007-01-01

22

Spinal infections: clinical and imaging features.  

PubMed

Spinal infections represent a group of rare conditions affecting vertebral bodies, intervertebral discs, paraspinal soft tissues, epidural space, meninges, and spinal cord. The causal factors, clinical presentations, and imaging features are a challenge because the difficulty to differentiate them from other conditions, such as degenerative and inflammatory disorders and spinal neoplasm. They require early recognition because delay diagnosis, imaging, and intervention may have devastating consequences especially in children and the elderly. This article reviews the most common spinal infections, their pathophysiologic, clinical manifestation, and their imaging findings. PMID:25296275

Arbelaez, Andres; Restrepo, Feliza; Castillo, Mauricio

2014-10-01

23

Mapping the Kumbh Mela: Report from the Harvard University Team Studying the Kumbh Mela  

E-print Network

collected in real time during the weeks of the Kumbh, as well as a proprietary cell phone usage dataset topics included: the ritual use of flowers and their environmental impact at the Kumbh Mela; diversity

Liu, X. Shirley

24

The Amyloidoses: Clinical Features, Diagnosis and Treatment  

PubMed Central

Amyloidosis is a rare disorder in which insoluble amyloid proteins are deposited in body organs, causing abnormal protein build-up in tissues and eventually leading to organ dysfunction and death. It affects less than 200,000 people in the United States, classifying it as a rare disease according to the National Institutes of Health. Definitive determination of the underlying protein is critical since prognosis and treatment of amyloidosis can vary widely depending on the responsible protein. The following paper describes the various types and clinical features of amyloidosis and provides an overview of current diagnostic tools and therapies. PMID:23227278

Baker, Kelty R.; Rice, Lawrence

2012-01-01

25

Clinical features and electrodiagnosis of ulnar neuropathies.  

PubMed

In this review, we delineate clinical, electrodiagnostic, and radiographic features of ulnar mononeuropathies. Ulnar neuropathy at the elbow (UNE) is most commonly due to lesions at the level of the retroepicondylar groove (RTC), with approximately 25% at the humeroulnar arcade (HUA). The term 'cubital tunnel syndrome' should be reserved for the latter. The diagnostic accuracy of nerve conduction studies is limited by biological (e.g. low elbow temperature) and technical factors. Across-elbow distance measurements greater than 10 cm improve diagnostic specificity at the expense of decreased sensitivity. Short-segment incremental studies can differentiate lesions at the HUA from those at the RTC. PMID:23177030

Landau, Mark E; Campbell, William W

2013-02-01

26

Clinical mastitis in ewes; bacteriology, epidemiology and clinical features  

PubMed Central

Background Clinical mastitis is an important disease in sheep. The objective of this work was to identify causal bacteria and study certain epidemiological and clinical features of clinical mastitis in ewes kept for meat and wool production. Methods The study included 509 ewes with clinical mastitis from 353 flocks located in 14 of the 19 counties in Norway. Clinical examination and collection of udder secretions were carried out by veterinarians. Pulsed-field gel electrophoresis (PFGE) was performed on 92 Staphylococcus aureus isolates from 64 ewes. Results and conclusion S. aureus was recovered from 65.3% of 547 clinically affected mammary glands, coagulase-negative staphylococci from 2.9%, enterobacteria, mainly Escherichia coli, from 7.3%, Streptococcus spp. from 4.6%, Mannheimia haemolytica from 1.8% and various other bacteria from 4.9%, while no bacteria were cultured from 13.2% of the samples. Forty percent of the ewes with unilateral clinical S. aureus mastitis also had a subclinical S. aureus infection in the other mammary gland. Twenty-four of 28 (86%) pairs of S. aureus isolates obtained from clinically and subclinically affected mammary glands of the same ewe were indistinguishable by PFGE. The number of identical pairs was significantly greater than expected, based on the distribution of different S. aureus types within the flocks. One-third of the cases occurred during the first week after lambing, while a second peak was observed in the third week of lactation. Gangrene was present in 8.8% of the clinically affected glands; S. aureus was recovered from 72.9%, Clostridium perfringens from 6.3% and E. coli from 6.3% of the secretions from such glands. This study shows that S. aureus predominates as a cause of clinical ovine mastitis in Norway, also in very severe cases. Results also indicate that S. aureus is frequently spread between udder halves of infected ewes. PMID:17892567

M?rk, Tormod; Waage, Steinar; Tollersrud, Tore; Kvitle, Bj?rg; Sviland, Stale

2007-01-01

27

Clinical features of elderly chronic urticaria  

PubMed Central

Background/Aims Chronic urticaria (CU) is defined as itchy wheals lasting 6 weeks or more. As the aged population increases worldwide, it is essential to identify the specific features of this disease in the elderly population. Methods We investigated the prevalence and clinical features of CU in elderly patients. Medical records of 837 CU patients from the outpatient Allergy Clinic of Ajou University Hospital, Korea were analyzed retrospectively. Patients with chronic spontaneous urticaria according to the EAACI/GA2LEN/EDF/WAO guidelines were included. Patients older than 60 years were defined as elderly. Results Of the 837 patients, 37 (4.5%) were elderly. In elderly versus nonelderly CU patients, the prevalence of atopic dermatitis (AD) was significantly higher (37.8% vs. 21.7%, respectively; p = 0.022), while that of aspirin intolerance was lower (18.9% vs. 43.6%, respectively; p = 0.003) in terms of comorbid conditions. The prevalences of serum specific immunoglobulin E antibodies to staphylococcal enterotoxin A and staphylococcal enterotoxin B were considerably higher in elderly CU patients with AD than in those without AD (37.5% vs. 0%, respectively). Conclusions Elderly patients with CU had a higher prevalence of AD. Therefore, there is a need to recognize the existence of AD in elderly CU patients. PMID:25378979

Ban, Ga-Young; Kim, Mi-Yea; Yoo, Hye-Soo; Nahm, Dong-Ho; Ye, Young-Min; Shin, Yoo-Seob

2014-01-01

28

[Clinical features of postinfectious chronic cough].  

PubMed

Postinfectious cough has been drawing attention as a factor involved in the etiology of chronic cough in the United States. In Japan, clinical features of postinfectious chronic cough (PICC) have not been described in detail. We investigated 22 patients with PICC diagnosed by the established criteria (Jpn. J. Allergol. 1995; 44: 1418). All patients were nonsmokers and none received ACE inhibitors. None had a history of atopy or sinus diseases. There were four men and 18 women with a median age of 65 years. These 22 patients underwent clinical examinations including chest roentgenograms, respiratory function tests, eosinophil counts in venous blood, serum IgE titers, antibody titers to Mycoplasma pneumoniae, sputum cytologic findings taken from ten patients, and histological features of bronchial biopsy specimens obtained from two patients; all findings were within normal limits. Clinical course of cough in 20 of the patients with PICC was evaluated using a cough diary. One patient did not keep a cough diary. Ten patients improved with dextromethorphan hydrobromide (D) and oxatomide (O). Three of the remaining 9 patients improved with Bakumondo-to (B) only, 4 with D+O+B, and 2 with D+O+B+ozagrel hydrochloride. The duration of cough before treatment showed a significant correlation with the time from the start of treatment to recovery (r = 0.47, p < 0.05). These results indicate that PICC tends to occur in elderly women and to improve with treatment combining with D, O, and B. We hope to establish a standard therapy for postinfectious chronic cough. PMID:9232911

Fujimori, K; Suzuki, E; Arakawa, M

1997-05-01

29

Clinical Features and Treatment of Ocular Toxoplasmosis  

PubMed Central

Ocular toxoplasmosis is a disease caused by the infection with Toxoplasma gondii through congenital or acquired routes. Once the parasite reaches the retina, it proliferates within host cells followed by rupture of the host cells and invasion into neighboring cells to make primary lesions. Sometimes the restricted parasite by the host immunity in the first scar is activated to infect another lesion nearby the scar. Blurred vision is the main complaint of ocular toxoplasmic patients and can be diagnosed by detection of antibodies or parasite DNA. Ocular toxoplasmosis needs therapy with several combinations of drugs to eliminate the parasite and accompanying inflammation; if not treated it sometimes leads to loss of vision. We describe here clinical features and currently available chemotherapy of ocular toxoplasmosis. PMID:24039281

Park, Young-Hoon

2013-01-01

30

Clinical Features of Bowel Anisakiasis in Japan  

PubMed Central

Bowel anisakiasis is rare, and the incidence and clinical features of this condition remain unclear. Using the Japanese Diagnosis Procedure Combination (DPC) in-patient database, we identified 201 cases of bowel anisakiasis between the months of July and December during 2007 and 2008. More than 70% were males. The average age was 54.5 years. Overall, 102 (50.7%) cases had ileus, 16 (8.0%) had perforation or peritonitis, and 4 (2.0%) had intestinal bleeding. Allergic responses, including urticaria, were found in seven (3.5%) patients. Fourteen (7.0%) cases underwent open surgery. Three (1.5%) underwent colonoscopic removal of Anisakis larvae. The average length of stay in the hospital was 9.6 days. The annual incidence of bowel anisakiasis is estimated to be about 3.0 per 1 million people per year. It is important to continue collecting all available data to monitor the trends of this distressing condition. PMID:20595486

Yasunaga, Hideo; Horiguchi, Hiromasa; Kuwabara, Kazuaki; Hashimoto, Hideki; Matsuda, Shinya

2010-01-01

31

Costeff syndrome: clinical features and natural history.  

PubMed

Costeff syndrome (CS) is a rare autosomal-recessive neurological disorder, which is known almost exclusively in patients of Iraqi Jewish descent, manifesting in childhood with optic atrophy, ataxia, chorea and spastic paraparesis. Our aim was to study the clinical spectrum of CS and natural history using a cross-sectional study design. Consecutive patients with CS were recruited to the study. Patients were diagnosed based on clinical features, along with elevated urinary levels of methylglutaconic and methylglutaric acid, and by identification of the disease-causing mutation in the OPA3 gene in most. All patients were examined by a neurologist and signs and symptoms were rated. 28 patients with CS (16 males, 21 families, age at last observation 28.6 ± 16.1 years, range 0.5-68 years) were included. First signs of neurological deficit appeared in infancy or early childhood, with delayed motor milestones, choreiform movements, ataxia and visual disturbances. Ataxia and chorea were the dominant motor features in childhood, but varied in severity among patients and did not seem to worsen with age. Pyramidal dysfunction appeared later and progressed with age (r = 0.71, p < 0.001) leading to spastic paraparesis and marked gait impairment. The course of neurological deterioration was slow and the majority of patients could still walk beyond the fifth decade. While visual acuity seemed to deteriorate, it did not correlate with age. CS is a rare neurogenetic disorder that causes serious disability and worsens with age. Spasticity significantly increases over the years and is the most crucial determinant of neurological dysfunction. PMID:25201222

Yahalom, Gilad; Anikster, Yair; Huna-Baron, Ruth; Hoffmann, Chen; Blumkin, Lubov; Lev, Dorit; Tsabari, Rakefet; Nitsan, Zeev; Lerman, Sheera F; Ben-Zeev, Bruria; Pode-Shakked, Ben; Sofer, Shira; Schweiger, Avraham; Lerman-Sagie, Tally; Hassin-Baer, Sharon

2014-12-01

32

CLINICAL AND IMAGING FEATURES OF OTHELLO'S SYNDROME  

PubMed Central

Background Our objective was to document the clinical and imaging features of Othello's syndrome (delusional jealousy). Methods The study design was a retrospective case series of 105 patients with Othello's syndrome that were identified by using the Electronic Medical Record system of Mayo Clinic. Results The average age at onset of Othello's syndrome was 68 (25–94) years with 61.9% of patients being male. Othello's syndrome was most commonly associated with a neurological disorder (73/105) compared with psychiatric disorders (32/105). Of the patients with a neurological disorder, 76.7% had a neurodegenerative disorder. Seven of eight patients with a structural lesion associated with Othello's syndrome had right frontal lobe pathology. Voxel-based morphometry showed greater grey matter loss predominantly in the dorsolateral frontal lobes in the neurodegenerative patients with Othello's compared to matched patients with neurodegenerative disorders without Othello's syndrome. Treatment success was notable for patients with dopamine agonist induced Othello's syndrome in which all six patients had improvement in symptoms following decrease in medication. Conclusions This study demonstrates that Othello's syndrome occurs most frequently with neurological disorders. This delusion appears to be associated with dysfunction of the frontal lobes, especially right frontal lobe. PMID:21518145

Graff-Radford, Jonathan; Whitwell, Jennifer L.; Geda, Yonas E.; Josephs, Keith A.

2011-01-01

33

Neurosarcoidosis: clinical features, diagnosis, and management.  

PubMed

Sarcoidosis is a multisystemic granulomatous disease, which uncommonly affects nervous system. However, when present, it may affect both central and peripheral nervous systems and potentially mimics other chronic diseases of the nervous system. Pathogenesis of neurosarcoidosis remains largely unknown, and its diagnosis and management pose serious challenges to clinicians. Early diagnosis and aggressive treatment of neurosarcoidosis are necessary to produce satisfactory clinical outcomes. This review discusses clinical manifestations, current diagnostic studies, and currently available modalities for management of neurosarcoidosis. PMID:19092637

Schwendimann, Robert N; Harris, Meghan K; Elliott, Debra G; Menon, Uma; Gonzalez-Toledo, Eduardo; Zivadinov, Robert; Pressly, Thomas A; Kelley, Roger E; Hoque, Romy; Fowler, Marjorie; Maghzi, Amir H; Etemadifar, Masoud; Saadatnia, Mohammad; Minagar, Alireza

2013-01-01

34

The clinical features of rheumatoid arthritis  

Microsoft Academic Search

Rheumatoid arthritis (RA) is a chronic inflammatory disease characterized by progressive damage of synovial-lined joints and variable extra-articular manifestations. Tendon and bursal involvement are frequent and often clinically dominant in early disease. RA can affect any joint, but it is usually found in metacarpophalangeal, proximal interphalangeal and metatarsophalangeal joints, as well as in the wrists and knee. Articular and periarticular

Walter Grassi; Rossella De Angelis; Gianni Lamanna; Claudio Cervini

1998-01-01

35

Clinical Features of Celiac Disease Today  

Microsoft Academic Search

The clinical spectrum of celiac disease has widened over the past decades. The condition is no longer a severe malabsorption syndrome. Instead, a typical celiac disease patient today has merely mild abdominal symptoms. Malabsorption can be subclinical or absent, and there is usually only moderate, if any, loss of weight. Simultaneously, the current prevalence has increased from 1:1,000 to 1:300

Pekka Collin; Katri Kaukinen; Markku Mäki

1999-01-01

36

Clinical features of Alzheimer’s disease  

Microsoft Academic Search

The preclinical stage of Alzheimer’s disease is inconspicuous and there are – almost by definition – no reliable and valid\\u000a symptoms and signs which would allow a very early diagnosis before the manifestation of irreversible deficits. For a clinical\\u000a diagnosis of dementia, cognitive impairment has to be severe enough to compromise the activities of daily living. In the mild\\u000a dementia

H. Förstl; A. Kurz

1999-01-01

37

Potential MER Landing Site in Melas Chasma  

NASA Technical Reports Server (NTRS)

We have selected one area in Valles Marineris as a potential landing site for the Mars Exploration Rover (MER) mission. After 30 years of analyses, the formation of the Valles Marineris system of troughs and its associated deposits still remains an enigma. Understanding all aspects of the Valles Marineris would significantly contribute to deciphering the internal and external history of Mars. A landing site within Melas Chasma could provide insight into both the formation of Valles Marineris and the composition and origin of the interior layered deposits (ILDs). The ILDs have been proposed as: (1) sedimentary deposits formed in lakes mass wasted material from the walls; (3) remnants of the wall rock; (4) carbonate deposits; (5) aeolian deposits; and (6) volcanic. More recently, Malin and Edgett suggest that the fine-scale, rhythmic layering seen in the interior deposits, as well as other layered deposits in craters, supports a sedimentary origin. Because an understanding of the formation of Valles Marineris and its interior deposits is so important to deciphering the history of Mars, we have proposed a landing site for the MER mission on an exposure of interior deposits in western Melas Chasma. Either MER-A and MER-B could land at this same location.

Weitz, C. M.; Parker, Timothy J.; Anderson, F. Scott

2001-01-01

38

Benign Occipital Epilepsies of Childhood: Clinical Features and Genetics  

ERIC Educational Resources Information Center

The early and late benign occipital epilepsies of childhood (BOEC) are described as two discrete electro-clinical syndromes, eponymously known as Panayiotopoulos and Gastaut syndromes. Our aim was to explore the clinical features, classification and clinical genetics of these syndromes using twin and multiplex family studies to determine whether…

Taylor, Isabella; Berkovic, Samuel F.; Kivity, Sara; Scheffer, Ingrid E.

2008-01-01

39

Clinical features, diagnosis and treatment of narcolepsy.  

PubMed

Narcolepsy is characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, and hypnagogic/hypnapompic hallucinations. It is currently believed to be caused by a deficiency in hypocretin-producing neurons in the lateral hypothalamus. Diagnosis is by the presence of appropriate clinical symptoms and confirmation by a polysomnogram followed by a multiple sleep latency test. There are nonpharmacologic (eg, scheduled naps, following proper sleep hygiene) and symptom-directed pharmacologic (eg, central nervous system stimulants, modafinil, sodium oxybate, certain antidepressants) treatments that are usually used together for optimal management of narcolepsy. PMID:20488294

Ahmed, Imran; Thorpy, Michael

2010-06-01

40

[Clinical features, diagnostics, and treatment of rhonchopathy].  

PubMed

At present, diagnostics and treatment of pathological snoring is a topical medical and social problem as follows from the results of statistical and epidemiological studies of the prevalence of rhonchus and apnea in the general population and a large number of relevant publications both in the domestic and the foreign literature. According to statistics, every fifth subject at the age above 30 years snores when sleeping. Recent surveys have demonstrated that rhonchus is a precursory symptom and a manifestation of one of a most serious clinical conditions, obstructive sleep apnea syndrome (OSAS). One of the main achievements in the field of snoring research and treatment is the development of an objective method for the evaluation of the respiratory function during sleep known as polysomnography (PSG). PMID:22334936

Ésenbaeva, A K

2011-01-01

41

[Narcolepsy: etiology, clinical features, diagnosis and treatment].  

PubMed

 Narcolepsy is a chronic hypersomnia characterized by excessive daytime sleepiness (EDS) and manifestations of disrupted rapid eye movement sleep stage (cataplexy, sleep paralysis, and hypnagogic/hypnopompic hallucinations). Mechanisms underlying narcolepsy are not fully understood. Experimental data indicate that the disease is caused by a loss of hypocretin neurons in the hypothalamus, likely due to an autoimmune process triggered by environmental factors in susceptible individuals. Most patients with narcolepsy and cataplexy have very low hypocretin-1 levels in the cerebrospinal fluid. An appropriate clinical history, polysomnogram, and multiple sleep latency test are necessary for diagnosis of the disease. Additionally, two biological markers, i.e., cerebrospinal fluid hypocretin-1 levels and expression of the DQB1*0602 gene, are used. The treatment of narcolepsy is aimed at the different symptoms that the patient manifests. Excessive daytime sleepiness is treated with psychostimulants (amphetamine-like, modafinil and armodafinil). Cataplexy is treated with sodium oxybate (GHB), tricyclic antidepressants, or selective serotonin and noradrenaline reuptake inhibitors. Sleep paralysis, hallucinations, and fragmented sleep may be treated with sodium oxybate. Patients with narcolepsy should follow proper sleep hygiene and avoid strong emotions. PMID:23175331

Zawilska, Jolanta B; Woldan-Tambor, Agata; P?ocka, Anna; Ku?ajska, Katarzyna; Wojcieszak, Jakub

2012-01-01

42

Welding-related parkinsonism Clinical features, treatment, and pathophysiology  

Microsoft Academic Search

Article abstract—Objective: To determine whether welding-related parkinsonism differs from idiopathic PD. Back- ground: Welding is considered a cause of parkinsonism, but little information is available about the clinical features exhibited by patients or whether this is a distinct disorder. Methods: The authors performed a case-control study that compared the clinical features of 15 career welders, who were ascertained through an

B. A. Racette; L. McGee-Minnich; S. M. Moerlein; J. W. Mink; T. O. Videen; J. S. Perlmutter

43

Long Range View of Melas Chasma  

NASA Technical Reports Server (NTRS)

This image is a mosaic of day and night infrared images of Melas Chasma taken by the camera system on NASA.s Mars Odyssey spacecraft. The daytime temperature images are shown in black and white, superimposed on the martian topography. A single nighttime temperature image is superimposed in color. The daytime temperatures range from approximately -35 degrees Celsius (-31 degrees Fahrenheit) in black to -5 degrees Celsius (23 degrees Fahrenheit) in white. Landslides flowed over 100 kilometers (62 miles) across the floor of Melas Chasma. They produced deposits with ridges and grooves of alternating warm and cold materials that can still be seen. The temperature differences in this image are due primarily to lighting effects, where sunlit slopes are warm (bright) and shadowed slopes are cool (dark). The nighttime temperature differences are due to differences in the abundance of rocky materials that retain their heat at night and stay relatively warm (red). Fine grained dust and sand (blue) cools off more rapidly at night. These images were acquired using the thermal infrared imaging system infrared B and 9, centered at 12.6 micrometers.

Jet Propulsion Laboratory, a division of the California Institute of Technology in Pasadena, manages the 2001 Mars Odyssey mission for NASA's Office of Space Science in Washington, D.C. Investigators at Arizona State University in Tempe, the University of Arizona in Tucson and NASA's Johnson Space Center, Houston, operate the science instruments. Additional science partners are located at the Russian Aviation and Space Agency and at Los Alamos National Laboratories, New Mexico. Lockheed Martin Astronautics, Denver, is the prime contractor for the project, and developed and built the orbiter. Mission operations are conducted jointly from Lockheed Martin and from JPL.

2002-01-01

44

Severe acute respiratory syndrome (SARS): epidemiology and clinical features  

PubMed Central

Severe acute respiratory syndrome (SARS) is a newly emerged infectious disease with a significant morbidity and mortality. The major clinical features include persistent fever, chills/rigor, myalgia, malaise, dry cough, headache, and dyspnoea. Older subjects may present without the typical febrile response. Common laboratory features include lymphopenia, thrombocytopenia, raised alanine transaminases, lactate dehydrogenase, and creatine kinase. The constellation of compatible clinical and laboratory findings, together with certain characteristic radiological features and lack of clinical response to broad spectrum antibiotics, should arouse suspicion of SARS. Measurement of serum RNA by real time reverse transcriptase-polymerase chain reaction technique has a detection rate of 75%–80% in the first week of the illness. PMID:15254300

Hui, D; Chan, M; Wu, A; Ng, P

2004-01-01

45

Habitat use of an artificial wetland by the invasive catfish Ameiurus melas  

E-print Network

Letter Habitat use of an artificial wetland by the invasive catfish Ameiurus melas Introduction bullhead [Ameiurus melas (Rafin- esque)], which was introduced into France from North America in 1871 JD. Habitat use of an artificial wetland by the invasive catfish Ameiurus melas. Ecology

Cucherousset, Julien

46

First record of Ameiurus melas (Siluriformes, Ictaluridae) in the Alqueva reservoir, Guadiana basin (Portugal)  

E-print Network

First record of Ameiurus melas (Siluriformes, Ictaluridae) in the Alqueva reservoir, Guadiana basin and Environmental Modelling, St Andrews, SCOTLAND. R�SUM�. - Premier signalement de Ameiurus melas (Siluri- formes février 2002, créant ainsi un nouvel habitat approprié pour Ameiurus melas. Afin de confirmer et d

Marques, Tiago A.

47

Habitat use of an artificial wetland by the invasive catfish Ameiurus melas  

Microsoft Academic Search

This study examined the distribution and habitat selection of the invasive black bullhead (Ameiurus melas (Rafinesque)) in the ditches and surrounded temporary flooded habitats of an artificial wetland in western France. A multiscale approach was used to quantify patterns of A. melas abundance in relation to physical habitat characteristics in the ditch network. Young-of-the-year (YOY) and adult A. melas largely

J. Cucherousset; J.-M. Paillisson; A. Carpentier; M.-C. Eybert; J. D. Olden

2006-01-01

48

Ontology-Guided Feature Engineering for Clinical Text Classification  

PubMed Central

In this study we present novel feature engineering techniques that leverage the biomedical domain knowledge encoded in the Unified Medical Language System (UMLS) to improve machine-learning based clinical text classification. Critical steps in clinical text classification include identification of features and passages relevant to the classification task, and representation of clinical text to enable discrimination between documents of different classes. We developed novel information-theoretic techniques that utilize the taxonomical structure of the Unified Medical Language System (UMLS) to improve feature ranking, and we developed a semantic similarity measure that projects clinical text into a feature space that improves classification. We evaluated these methods on the 2008 Integrating Informatics with Biology and the Bedside (I2B2) obesity challenge. The methods we developed improve upon the results of this challenge’s top machine-learning based system, and may improve the performance of other machine-learning based clinical text classification systems. We have released all tools developed as part of this study as open source, available at http://code.google.com/p/ytex PMID:22580178

Garla, Vijay N.; Brandt, Cynthia

2012-01-01

49

Clinical features and prognostic factors in adults with bacterial meningitis  

Microsoft Academic Search

background We conducted a nationwide study in the Netherlands to determine clinical features and prognostic factors in adults with community-acquired acute bacterial meningitis. methods From October 1998 to April 2002, all Dutch patients with community-acquired acute bacterial meningitis, confirmed by cerebrospinal fluid cultures, were prospectively eval- uated. All patients underwent a neurologic examination on admission and at discharge, and outcomes

Diederik van de Beek; Jan de Gans; Lodewijk Spanjaard; Martijn Weisfelt; Johannes B. Reitsma; Marinus Vermeulen

2004-01-01

50

EPIDEMIOLOGY AND CLINICAL FEATURES OF ATOPIC DERMATITIS IN INDIA  

PubMed Central

Literature on atopic dermatitis (AD) has experienced a spurt in the recent years with interest on genetics, immunology, pathogenesis, psychological impact, development of newer more effective and safer treatment agents. Indian literature on AD is limited, probably due to lower prevalence, and milder disease. In this review, we have discussed the Indian literature on epidemiology and clinical features of AD. PMID:22121256

Kanwar, Amrinder J; De, Dipankar

2011-01-01

51

Clinical Features: Autosomal recessive primary microcephaly (MCPH) is characterized by  

E-print Network

12/10 Clinical Features: Autosomal recessive primary microcephaly (MCPH) is characterized by: · congenital microcephaly (3 SD below the mean at birth or at least 4 SD below the mean at later ages) · mental weight and appearance except for the microcephaly Brain imaging shows a mildly reduced number of gyri

Gilad, Yoav

52

Clinical Features: Autosomal recessive primary microcephaly (MCPH) is characterized by  

E-print Network

3/10 Clinical Features: Autosomal recessive primary microcephaly (MCPH) is characterized by: · congenital microcephaly (3 SD below the mean at birth or at least 4 SD below the mean at later ages) · mental weight and appearance except for the microcephaly Brain imaging shows a mildly reduced number of gyri

Das, Soma

53

Diffuse Lewy body disease: clinical features in 15 cases  

Microsoft Academic Search

Fifteen cases of diffuse Lewy body disease were diagnosed on pathological grounds during a single year in one health district. The range and frequency of clinical features contrast strikingly with previous reports. The majority of cases presented with classical levodopa-responsive Parkinson's disease either alone (6 cases) or with mild cognitive impairment (3 cases); the remaining 6 cases presented with cognitive

E J Byrne; G Lennox; J Lowe; R B Godwin-Austen

1989-01-01

54

Repetitive Behaviors in Autism: Relationships with Associated Clinical Features  

ERIC Educational Resources Information Center

Relationships between repetitive behaviors (RBs) and associated clinical features (i.e., cognitive and adaptive functioning levels, sleep problems, medication use, and other behavioral problems) were examined in two groups (High nonverbal IQ greater than or equal to 97 versus Low nonverbal IQ less than or equal to 56) of children with autism…

Gabriels, Robin L.; Cuccaro, Michael L.; Hill, Dina E.; Ivers, Bonnie J.; Goldson, Edward

2005-01-01

55

Prevalence and clinical features of cryoglobulinaemia in multitransfused ?-thalassaemia patients  

Microsoft Academic Search

OBJECTIVEThe aim of the study was to determine the prevalence of cryoglobulinaemia and its clinical features among ?-thalassaemia patients.METHODSEighty eight multitransfused ?-thalassaemia patients were studied. They were physically examined and asked about the presence of cryoglobulinaemia related symptoms. Hepatitis C virus (HCV) serology, HCV-RNA, HCV subtypes, viraemia, serum ferritin, liver and kidney function tests, rheumatoid factor (RF), circulating immune complexes

R Perniola; C De Rinaldis; E Accogli; G Lobreglio

1999-01-01

56

Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes  

ERIC Educational Resources Information Center

Neuroimaging methods represent a critical tool in efforts to join the study of the neurobiology of genes with the neurobiology of behaviour, and to understand the neurodevelopmental pathways that give rise to cognitive and behavioural impairments. This article reviews the clinical features and highlights studies with a focus on the relevant…

Jackowski, Andrea Parolin; Laureano, Maura Regina; Del'Aquilla, Marco Antonio; de Moura, Luciana Monteiro; Assuncao, Idaiane; Silva, Ivaldo; Schwartzman, Jose Salomao

2011-01-01

57

Clinical Features and Severity of Nonspecific Symptoms in Dialysis Patients  

Microsoft Academic Search

Nonspecific symptoms are common in dialysis patients but few methods are available to measure their severity and their response to alteration in dialysis therapy. To determine the clinical features and measure the severity of the most important symptoms in end-stage renal disease (ESRD) patients, 97 dialysis patients were interviewed, 63 of whom were reinterviewed 1 year later. For comparison 82

P. S. Parfrey; H. M. Vavasour; S. Henry; M. Bullock; M. H. Gault

1988-01-01

58

Clinical features on nerve gas terrorism in Matsumoto  

Microsoft Academic Search

Clinical features on the first unexpected nerve gas terrorism using sarin (isopropyl methylphosphonofluoridate) on citizens in the city of Matsumoto is described. The nerve gas terrorism occurred at midnight on 27 June, 1994. About 600 people including residents and rescue staff were exposed to sarin gas. Fifty-eight victims were admitted to hospitals and seven died. Theoretically, sarin inhibits systemic acetylcholinesterase

Hiroshi Okudera

2002-01-01

59

Clinical features of 46 eyes with calcified hydrogel intraocular lenses  

Microsoft Academic Search

Purpose: To clarify the clinical features of delayed calcification of hydrogel intraocular lenses (IOLs) based on observation of a large case series.Setting: Ophthalmology department of 2 university teaching hospitals, Hong Kong, China.Methods: The first 44 patients with a known diagnosis of calcified IOL were recruited. Medical and ophthalmic histories were obtained. Surgical details, surgical complications, and visual acuity before and

Alexis Ka Fai Yu; Kenneth Yan Wing Kwan; David Ho Yin Chan; Daniel Yee Tak Fong

2001-01-01

60

Childhood and juvenile onset multiple sclerosis: clinical and paraclinical features  

Microsoft Academic Search

It is well known that multiple sclerosis (MS) is a demyelinating disease of the central nervous system that mostly starts in the second to third decade. In the present study, we reviewed our own observations of the clinical and paraclinical features in the 36 of 890 (4.04%) MS patients whose symptoms started before 16 years of age. The average age

Serkan Ozakbas; Egemen Idiman; Baris Baklan; Burak Yulug

2003-01-01

61

Are there clinical features of a sensitized cough reflex?  

PubMed

Cough reflex hypersensitization is a key feature in patients with troublesome cough. The clinical consequence of this hypersensitive state is typified by bouts of coughing often triggered by low threshold stimuli encountered by the patient during normal daily activities including exposure to aerosols, scents and odours, a change in air temperature and when talking or laughing. These features are often perceived by cough patients to be the most disruptive aspect of their condition and undoubtedly contribute to impaired quality of life. Patients with troublesome cough may describe a range of additional symptoms and sensations including an 'urge to cough' or the feeling of an 'itch' at the back of the throat, or a choking sensation and occasionally chest pain or breathlessness. It is uncertain if these features arise due to the processes responsible for cough reflex sensitization or as a direct consequence of the underlying cough aetiology. In an attempt to understand the clinical features of a sensitized cough reflex, the spectrum of symptoms typically described by cough patients will be reviewed and possible underlying mechanisms considered. Since an intact cough reflex is crucial to airway protection, anti-tussive treatment that attenuates the hypersensitive cough state rather than abolishing the cough reflex completely would be preferable. Identifying such agents remains a clinical, scientific and pharmacological challenge. PMID:19049891

McGarvey, L; McKeagney, P; Polley, L; MacMahon, J; Costello, R W

2009-04-01

62

MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.  

PubMed

We report the case of a 19-year-old Chinese female harboring the m.3291T>C mutation in the MT-TL1 gene encoding the mitochondrial transfer RNA for leucine. She presented with a complex phenotype characterized by progressive cerebellar ataxia, frequent myoclonus seizures, recurrent stroke-like episodes, migraine-like headaches with nausea and vomiting, and elevated resting lactate blood level. It is known that the myoclonus epilepsy with ragged-red fibers (MERRF) is characterized by cerebellar ataxia and myoclonus epilepsy, while that the mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is characterized by recurrent stroke-like episodes, migraine-like headaches, and elevated resting lactate blood level. So the patient's clinical manifestations suggest the presence of a MERRF/MELAS overlap syndrome. Muscle biopsy of the patient showed the presence of numerous scattered ragged-red fibers, some cytochrome c oxidase-deficient fibers, and several strongly succinate dehygrogenase-reactive vessels, suggestive of a mitochondrial disorder. Direct sequencing of the complete mitochondrial genome of the proband revealed no mutations other than the T-to-C transition at nucleotide position 3291. Restriction fragment length polymorphism analysis of the proband and her family revealed maternal inheritance of the mutation in a heteroplasmic manner. The analysis of aerobic respiration and glycolysis demonstrated that the fibroblasts from the patient had mitochondrial dysfunction. Our results suggest that the m.3291T>C is pathogenic. This study is the first to describe the m.3291T>C mutation in association with the MERRF/MELAS overlap syndrome. PMID:24338029

Liu, Kaiming; Zhao, Hui; Ji, Kunqian; Yan, Chuanzhu

2014-03-01

63

Clinical features and management of hereditary spastic paraplegia.  

PubMed

Hereditary spastic paraplegia (HSP) is a group of genetically-determined disorders characterized by progressive spasticity and weakness of lower limbs. An apparently sporadic case of adult-onset spastic paraplegia is a frequent clinical problem and a significant proportion of cases are likely to be of genetic origin. HSP is clinically divided into pure and complicated forms. The later present with a wide range of additional neurological and systemic features. To date, there are up to 60 genetic subtypes described. All modes of monogenic inheritance have been described: autosomal dominant, autosomal recessive, X-linked and mitochondrial traits. Recent advances point to abnormal axonal transport as a key mechanism leading to the degeneration of the long motor neuron axons in the central nervous system in HSP. In this review we aim to address recent advances in the field, placing emphasis on key diagnostic features that will help practicing neurologists to identify and manage these conditions. PMID:24676440

Faber, Ingrid; Servelhere, Katiane R; Martinez, Alberto R M; D'Abreu, Anelyssa; Lopes-Cendes, Iscia; França-Jr, Marcondes C

2014-03-01

64

Reading and spelling disorders: Clinical features and causes  

Microsoft Academic Search

Developmental dyslexia (specific reading and specific spelling disorder) is thought to stem from specific features in cognitive\\u000a processing strongly related to biological maturation of the central nervous system which interact with non-biological learning\\u000a conditions. The specific learning disorder should not be accounted for by mental age, gross neurological deficits, emotional\\u000a disturbances or inadequate schooling. As a clinical guideline, the child’s

Andreas Warnke

1999-01-01

65

Clinical, Epidemiologic, Histopathologic and Molecular Features of an Unexplained Dermopathy  

Microsoft Academic Search

BackgroundMorgellons is a poorly characterized constellation of symptoms, with the primary manifestations involving the skin. We conducted an investigation of this unexplained dermopathy to characterize the clinical and epidemiologic features and explore potential etiologies.MethodsA descriptive study was conducted among persons at least 13 years of age and enrolled in Kaiser Permanente Northern California (KPNC) during 2006–2008. A case was defined

Michele L. Pearson; Joseph V. Selby; Kenneth A. Katz; Virginia Cantrell; Christopher R. Braden; Monica E. Parise; Christopher D. Paddock; Michael R. Lewin-Smith; Victor F. Kalasinsky; Felicia C. Goldstein; Allen W. Hightower; Arthur Papier; Brian Lewis; Sarita Motipara; Mark L. Eberhard

2012-01-01

66

Pineal cyst: a review of clinical and radiological features.  

PubMed

Pineal cysts (PCs) are benign and often asymptomatic lesions of the pineal region that are typically small and do not change in size over time. PCs appear as small, well circumscribed, unilocular masses that either reside within or completely replace the pineal gland. This article reviews and discusses the characteristic features of PCs-clinical, histological, and identifiable by various imaging modalities-which assist clinicians in narrowing the differential diagnosis for pineal lesions. PMID:21801982

Choy, Winward; Kim, Won; Spasic, Marko; Voth, Brittany; Yew, Andrew; Yang, Isaac

2011-07-01

67

The clinical features of the piriformis syndrome: a systematic review  

Microsoft Academic Search

Piriformis syndrome, sciatica caused by compression of the sciatic nerve by the piriformis muscle, has been described for\\u000a over 70 years; yet, it remains controversial. The literature consists mainly of case series and narrative reviews. The objectives\\u000a of the study were: first, to make the best use of existing evidence to estimate the frequencies of clinical features in patients\\u000a reported to

Kevork Hopayian; Fujian Song; Ricardo Riera; Sidha Sambandan

2010-01-01

68

Clinical features of drug abuse that reflect genetic risk  

PubMed Central

Background Drug abuse (DA) is a clinically heterogeneous syndrome. Can we, in a large epidemiological sample, identify clinical features of DA cases that index genetic risk? Method Using registration in medical, legal or pharmacy records, we identified four kinds of relative pairs (n =935854) starting with a proband with DA: monozygotic co-twins; full siblings; half-siblings; and cousins. Using linear hazard regression, we examined the interaction between three clinical features of DA in the proband and risk for DA in these four relative pairs, ordered by degree of genetic relationship. Results Increased risk for DA in relatives was robustly predicted by early age at first registration, total number of registrations, and ascertainment in the criminal versus the medical or pharmacy registry. In multivariate models, all three of these variables remained significant and in aggregate strongly predicted DA risk in relatives. The risk for DA in siblings of DA probands in the highest decile of genetic risk predicted by our three indices was more than twice as great as that predicted in siblings of probands in the lowest decile of risk. Conclusions In an epidemiological sample, genetic risk for DA can be substantially indexed by simple clinical and historical variables. PMID:24461082

Kendler, K. S.; Ohlsson, H.; Sundquist, K.; Sundquist, J.

2014-01-01

69

Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disorders.  

PubMed

Childhood neurotransmitter disorders are increasingly recognised as an expanding group of inherited neurometabolic syndromes. They are caused by disturbance in synthesis, metabolism, and homeostasis of the monoamine neurotransmitters, including the catecholamines (dopamine, norepinephrine, and epinephrine) and serotonin. Disturbances in monoamine neurotransmission will lead to neurological symptoms that often overlap with clinical features of other childhood neurological disorders (such as hypoxic ischaemic encephalopathy, cerebral palsy, other movement disorders, and paroxysmal conditions); consequently, neurotransmitter disorders are frequently misdiagnosed. The diagnosis of neurotransmitter disorders is made through detailed clinical assessment, analysis of cerebrospinal fluid neurotransmitters, and further supportive diagnostic investigations. Early and accurate diagnosis of neurotransmitter disorders is important, as many are amenable to therapeutic intervention. The principles of treatment for monoamine neurotransmitter disorders are mainly directly derived from understanding these metabolic pathways. In disorders characterized by enzyme deficiency, we aim to increase monoamine substrate availability, boost enzyme co-factor levels, reduce monoamine breakdown, and replace depleted levels of monoamines with pharmacological analogs as clinically indicated. Most monoamine neurotransmitter disorders lead to reduced levels of central dopamine and/or serotonin. Complete amelioration of motor symptoms is achievable in some disorders, such as Segawa's syndrome, and, in other conditions, significant improvement in quality of life can be attained with pharmacotherapy. In this review, we provide an overview of the clinical features and current treatment strategies for childhood monoamine neurotransmitter disorders. PMID:25011953

Ng, J; Heales, S J R; Kurian, M A

2014-08-01

70

Kumaran Thaal Ragam: Yadukula Kambodhi (28th mela janyam)  

E-print Network

Kumaran Thaal Ragam: Yadukula Kambodhi (28th mela janyam) Arohana: S R2 M1 P D2 S Avarohana: S N2 D2 P M1 G3 R2 S Talam: Adi Composer: Papanasam Sivan Version: D.K. Pattammal Pallavi: Kumaran Taal"), the beautiful one ("singaara"), The son of Shankara ("Shankara Kumaran ...") He is the lord ("eeshan

Kalyanaraman, Shivkumar

71

Neurophysiological features in relation to clinical signs in clinically diagnosed corticobasal degeneration  

Microsoft Academic Search

.   We investigated the association between clinical and neurophysiological characteristics in patients with a clinical diagnosis\\u000a of probable corticobasal degeneration (CBD), and searched for neurophysiological features supporting the diagnosis in life.\\u000a Ten patients with clinically probable CBD underwent comprehensive neurological evaluation and brain MRI. Long latency reflexes\\u000a (LLR), upper limb somatosensory (SEP) and motor evoked (MEP) potentials were recorded. The

D. Monza; C. Ciano; V. Scaioli; P. Soliveri; F. Carella; G. Avanzini; F. Girotti

2003-01-01

72

Clinical features of Friedreich's ataxia: classical and atypical phenotypes.  

PubMed

One hundred and fifty years since Nikolaus Friedreich's first description of the degenerative ataxic syndrome which bears his name, his description remains at the core of the classical clinical phenotype of gait and limb ataxia, poor balance and coordination, leg weakness, sensory loss, areflexia, impaired walking, dysarthria, dysphagia, eye movement abnormalities, scoliosis, foot deformities, cardiomyopathy and diabetes. Onset is typically around puberty with slow progression and shortened life-span often related to cardiac complications. Inheritance is autosomal recessive with the vast majority of cases showing an unstable intronic GAA expansion in both alleles of the frataxin gene on chromosome 9q13. A small number of cases are caused by a compound heterozygous expansion with a point mutation or deletion. Understanding of the underlying molecular biology has enabled identification of atypical phenotypes with late onset, or atypical features such as retained reflexes. Late-onset cases tend to have slower progression and are associated with smaller GAA expansions. Early-onset cases tend to have more rapid progression and a higher frequency of non-neurological features such as diabetes, cardiomyopathy, scoliosis and pes cavus. Compound heterozygotes, including those with large deletions, often have atypical features. In this paper, we review the classical and atypical clinical phenotypes of Friedreich's ataxia. PMID:23859346

Parkinson, Michael H; Boesch, Sylvia; Nachbauer, Wolfgang; Mariotti, Caterina; Giunti, Paola

2013-08-01

73

The heavy chain diseases: clinical and pathologic features.  

PubMed

Heavy chain diseases are a family of rare, systemic syndromes typically associated with or representing a variant of a B-cell neoplasm. Their characteristic feature is production of a mutated immunoglobulin heavy chain incapable of either partnering with light chains in the formation of a full immunoglobulin molecule or of being degraded by the proteasome. The abnormal heavy chain is detected in urine and/or serum without an associated light chain, a pathognomonic finding. Depending on the subtype of the altered heavy chain, these conditions can be subclassified as alpha, gamma, or mu heavy chain disease. We discuss the clinical presentation; epidemiology; laboratory, radiologic, and pathologic features; and treatment options for each of the heavy chain diseases, emphasising the importance of an accurate pathologic diagnosis and correct interpretation of immunologic studies in their identification. PMID:24683718

Bianchi, Giada; Anderson, Kenneth C; Harris, Nancy Lee; Sohani, Aliyah R

2014-01-01

74

Clinical and pathological features of primary renal angiosarcoma  

PubMed Central

Introduction: We review all cases of renal angiosarcoma described in the medical literature to describe its clinical and histological features. Methods: The search term was “angiosarcoma of the kidney.” All articles or case reports in English, French, German or Spanish published until March 15, 2013 were considered. When available, data that focused on clinical and pathological features were extracted. Results: In total, the final cohort included 42 cases. The median overall survival (OS) was 5.0 months (95% confidence interval [CI], 2.1–7.9). Patients with metastatic disease had more than a threefold increase in the risk of death compared to patients without meta-static disease (hazard ratio: 3.27, 95% CI, 1.48–7.24; p = 0.004). Non-metastatic patients had dismal disease-free survival (DFS) rates, with a median DFS of 6.0 months (95% CI, 4.3–7.7); despite this, chemotherapy was effective to increase survival in eligible patients (4.0 vs. 1.0 months; p = 0.001). Microscopic examination found epithelioid and spindled cell in 44% and 56% of cases, respectively; there was a statistically insignificant increase in survival in patients with epithelioid patterns compared to spindled ones (9.0 vs. 4.0 months; p = 0.077). The tumour grading was related to OS; the lower the grade, the longer the survival (13 vs. 4 months; p = 0.029). Conclusions: Renal angiosarcoma is a rare disease with defined clinical and pathological features. It has a very poor prognosis in patients with metastatic disease and a high recurrence rate in patients with non-metastatic disease. PMID:24839487

Iacovelli, Roberto; Orlando, Valentina; Palazzo, Antonella; Cortesi, Enrico

2014-01-01

75

Hypertrophic cardiomyopathy in infants: clinical features and natural history  

SciTech Connect

The clinical and morphologic features of hypertrophic cardiomyopathy in 20 patients recognized as having cardiac disease in the first year of life are described. Fourteen of these 20 infants were initially suspected of having heart disease solely because a heart murmur was identified. However, the infants showed a variety of clinical findings, including signs of marked congestive heart failure (in the presence of nondilated ventricular cavities and normal or increased left ventricular contractility) and substantial cardiac enlargement on chest radiograph. Other findings were markedly different from those usually present in older children and adults with hypertrophic cardiomyopathy (e.g., right ventricular hypertrophy on the ECG and cyanosis). Consequently, in 14 infants, the initial clinical diagnosis was congenital cardiac malformation other than hypertrophic cardiomyopathy. The clinical course was variable in these patients, but the onset of marked congestive heart failure in the first year of life appeared to be an unfavorable prognostic sign; nine of the 11 infants with congestive heart failure died within the first year of life. In infants with hypertrophic cardiomyopathy, unlike older children and adults with this condition, sudden death was less common (two patients) than death due to progressive congestive heart failure.

Maron, B.J. (National Inst. of Health, Bethesda, MD); Tajik, A.J.; Ruttenberg, H.D.; Graham, T.P.; Atwood, G.F.; Victorica, B.E.; Lie, J.T.; Roberts, W.C.

1982-01-01

76

The clinical features of the piriformis syndrome: a systematic review  

PubMed Central

Piriformis syndrome, sciatica caused by compression of the sciatic nerve by the piriformis muscle, has been described for over 70 years; yet, it remains controversial. The literature consists mainly of case series and narrative reviews. The objectives of the study were: first, to make the best use of existing evidence to estimate the frequencies of clinical features in patients reported to have PS; second, to identify future research questions. A systematic review was conducted of any study type that reported extractable data relevant to diagnosis. The search included all studies up to 1 March 2008 in four databases: AMED, CINAHL, Embase and Medline. Screening, data extraction and analysis were all performed independently by two reviewers. A total of 55 studies were included: 51 individual and 3 aggregated data studies, and 1 combined study. The most common features found were: buttock pain, external tenderness over the greater sciatic notch, aggravation of the pain through sitting and augmentation of the pain with manoeuvres that increase piriformis muscle tension. Future research could start with comparing the frequencies of these features in sciatica patients with and without disc herniation or spinal stenosis. PMID:20596735

Song, Fujian; Riera, Ricardo; Sambandan, Sidha

2010-01-01

77

The clinical features of the overlap between COPD and asthma  

PubMed Central

Background The coexistence of COPD and asthma is widely recognized but has not been well described. This study characterizes clinical features, spirometry, and chest CT scans of smoking subjects with both COPD and asthma. Methods We performed a cross-sectional study comparing subjects with COPD and asthma to subjects with COPD alone in the COPDGene Study. Results 119 (13%) of 915 subjects with COPD reported a history of physician-diagnosed asthma. These subjects were younger (61.3 vs 64.7 years old, p = 0.0001) with lower lifetime smoking intensity (43.7 vs 55.1 pack years, p = 0.0001). More African-Americans reported a history of asthma (33.6% vs 15.6%, p < 0.0001). Subjects with COPD and asthma demonstrated worse disease-related quality of life, were more likely to have had a severe COPD exacerbation in the past year, and were more likely to experience frequent exacerbations (OR 3.55 [2.19, 5.75], p < 0.0001). Subjects with COPD and asthma demonstrated greater gas-trapping on chest CT. There were no differences in spirometry or CT measurements of emphysema or airway wall thickness. Conclusion Subjects with COPD and asthma represent a relevant clinical population, with worse health-related quality of life. They experience more frequent and severe respiratory exacerbations despite younger age and reduced lifetime smoking history. Trial registration ClinicalTrials.gov: NCT00608764 PMID:21951550

2011-01-01

78

Stratigraphic architectures spotted in southern Melas Chasma, Valles Marineris, Mars  

NASA Astrophysics Data System (ADS)

The distribution in space and time of liquid water on Mars is relevant to astrobiology and astroclimatology. To date, most orbital observations that attest to past fluvial and lacustrine activity on Mars have been dedicated to surficial landforms (i.e., drainage networks and depositional fans). Here we report an unprecedented identification of typical stratigraphic architectures made in Mars Global Surveyor Mars Orbiter Camera images of layered material in southern Melas Chasma. A particular set of strata is arranged in three depositional sequences bounded by stratigraphic unconformities. The sequences show spectacular steeply inclined clinoforms, and a broad channel-like depression. There are the same complex stratal patterns in Valles Marineris on Mars as there are in terrestrial deposits. Insights into these three-dimensional deposit geometries are used to tentatively isolate specific depositional processes and point to ancient subaqueous settings. Findings in southern Melas indicate a very attractive spot to which the search for ancient habitable environments on Mars could be directed.

Dromart, Gilles; Quantin, Cathy; Broucke, Olivier

2007-04-01

79

Gender effect on clinical features of achalasia: a prospective study  

PubMed Central

Background Achalasia is a well-characterized esophageal motor disorder but the rarity of the disease limits performing large studies on its demographic and clinical features. Methods Prospectively, 213 achalasia patients (110 men and 103 women) were enrolled in the study. The diagnosis established by clinical, radiographic, and endoscopic as well as manometry criteria. All patients underwent a pre-designed clinical evaluation before and within 6 months after the treatment. Results Solid dysphagia was the most common clinical symptom in men and women. Chest pain was the only symptom which was significantly different between two groups and was more complained by women than men (70.9% vs. 54.5% P value= 0.03). Although the occurrence of chest pain significantly reduced after treatment in both groups (P < 0.001), it was still higher among women (32% vs. 20.9% P value= 0.04). In both sexes, chest pain did not relate to the symptom duration, LES pressure and type of treatment patients received. Also no significant relation was found between chest pain and other symptoms expressed by men and women before and after treatment. Chest pain was less frequently reported by patients over 56 yrs of age in comparison to those less than 56 yrs (p < 0.05). Conclusion It seems that chest pain is the distinct symptom of achalasia which is affected by sex as well as age and does not relate to the duration of illness, LESP and the type of treatment achalasia patients receive. PMID:16579859

Mikaeli, Javad; Farrokhi, Farnoosh; Bishehsari, Faraz; Mahdavinia, Mahboobeh; Malekzadeh, Reza

2006-01-01

80

Radiological and clinical features of adult non-puerperal mastitis  

PubMed Central

Objective: To describe the radiological and clinical features of adult non-puerperal mastitis and to determine the most accurate method of preventing unnecessary surgical procedures. Methods: Clinical and imaging findings were retrospectively reviewed in 51 females with non-puerperal mastitis, which was confirmed by biopsy/surgical pathology. All 51 patients had pre-operative MRI; 45 patients also had sonograms and 25 also had mammograms, pre-operatively. Results: Of the 51 cases with non-puerperal mastitis, 94.1% (48/51) were confirmed as having acute or chronic inflammation, and the other 3 had plasma cell mastitis; areola papillaris inflammation was found in 39.2% (20/51) of the cases. Overall, 6 of the 25 cases that were examined with mammography and 2 of the 45 cases that were examined with sonography appeared normal, but all 51 lesions were positively identified on MRI. Asymmetrical density (12/25) on mammograms and solitary or separated/contiguous, clustered, hypoechoic mass-like lesions (31/45) on ultrasound were the most common signs of non-puerperal mastitis. On enhanced MRI, 90.2% (46/51) of patients showed non-mass-like enhanced lesions. Multiple regional enhancements in the pattern of distribution (32/46) and separated or contiguous, clustered, rim-like enhancements in the pattern of internal enhancement (29/46) were the most common manifestations in non-mass-like enhanced lesions. Of the 51 patients, mastitis Type 1 and Type 2 in the time–signal intensity curve were detected in 47.1% and 51.0% of the patients, respectively. The breast imaging reporting and data system categories with the highest number of patients were Category 0 (9/25) on mammography, Category 4a on sonography (18/45) and Category 4a on MRI (29/51). Conclusion: The findings from mammography and ultrasound are non-specific; therefore, using MR can be helpful in the diagnosis, especially in the presence of non-mass-like enhancements that are multiple, regional, separated, or contiguous, clustered and rim-like. Advances in knowledge: Mastitis is often neglected because of the lack of typical clinical signs and symptoms. This study has assessed and described the clinical features and imaging findings of adult non-puerperal mastitis on mammograms, sonograms and MRI and found that MRI is more specific in the diagnosis of disease. PMID:23392197

Tan, H; Li, R; Liu, H; Gu, Y; Shen, X

2013-01-01

81

The clinical features and optimal treatment of anorectal malignant melanoma  

PubMed Central

Anorectal malignant melanoma (AMM) is a very rare and aggressive disease. The purpose of this article is to review the clinical features of AMM, to understand treatment options, and optimal therapy by reviewing pertinent literature. Traditionally an abdominoperineal resection (APR) sacrificing the anal sphincter has been performed for radical resection of cancer, but recently, wide excision of AMM is attempted since quality of life after surgery is an important issue. Some authors reported that there was no difference in five-year survival between the patient who underwent an APR and wide excision. The goal of both APR and wide excision was to improve survival with R0 resection. Adjuvant chemoradiation therapy can be performed to achieve an R0 resection. AMM shows very poor prognosis. At this time, research on AMM is insufficient to suggest a treatment guideline. Thus, treatment options, and a therapeutic method should be selected carefully.

Nam, Soomin; Kim, Chang Woo; Baek, Se Jin; Hur, Hyuk; Min, Byung Soh; Kim, Nam Kyu

2014-01-01

82

Nocturnal panic attacks: clinical features and respiratory connections.  

PubMed

The clinical and therapeutic aspects of nocturnal panic attacks (NPAs) remain poorly understood. Some authors present NPAs as a more severe and less cognitive form of panic disorder (PD), whereas others treat it as a different manifestation of conventional panic attack. Overall, few articles address NPA relative to the large amount of literature regarding PD. Important aspects regarding the management of NPAs, such as the appropriate pharmacological and psychological treatment, rely on relatively few studies. This review provides an update and review of the most relevant articles regarding conceptualization of NPA, differential diagnosis, comorbidities, treatments, etiological theories and new investigations developed by various research centers. We also discuss the etiological hypotheses of NPAs, focusing on the suffocation false alarm theory and conditioned fear. NPA patients may represent a subtype of PD with specific agoraphobic features, respiratory connections and unique therapeutic aspects. PMID:19210198

Levitan, Michelle N; Nardi, Antonio E

2009-02-01

83

[Bronchiolitis obliterans organizing pneumonia. Clinical and evolutive features].  

PubMed

A series is here reported of eleven patients with the histological diagnosis of bronchiolitis obliterans with organized pneumonia (BOOP) and the clinical course after one year of corticosteroid therapy. Four patients had idiopathic BOOP, one patient BOOP secondary to bone marrow transplantation and the other six patients had BOOP secondary to inhalation of toxic substances (Ardystil syndrome). The most common radiological feature at the onset of the disease was the presence of bilateral patchy infiltrates; the most common functional finding was a decreased diffusion capacity for carbon monoxide. After one year of follow-up, seven out of the ten patients still alive had a normal radiology and all showed a significant improvement in ventilatory and gasometric parameters. PMID:8685496

Solé, A; Cordero, P J; Martínez, M E; Vera, F

1996-02-01

84

Idiopathic Hypersomnia: Clinical Features and Response to Treatment  

PubMed Central

Objective: A recent American Academy of Sleep Medicine publication identified a need for research regarding idiopathic hypersomnia. We describe various clinical and polysomnographic features of patients with idiopathic hypersomnia, with an emphasis on response to pharmacotherapy. Methods: A retrospective review of our database initially identified 997 patients, utilizing “idiopathic hypersomnia,” “hypersomnia NOS,” and “primary hypersomnia” as keywords. The charts of eligible patients were examined in detail, and data were abstracted and analyzed. Response to treatment was graded utilizing an internally developed scale. Results: Eighty-five patients were ultimately identified (65% female). Median (interquartile range) ages of onset and diagnosis were 19.6 (15.5) and 33.7 (15.5), respectively. During a median follow-up duration of 2.4 (4.7) years, 65% of patients demonstrated a “complete response” to pharmacotherapy as assessed by the authors' grading schema. Methylphenidate was most commonly used as a first-line agent prior to December 1998, but subsequently, modafinil became the most common first drug. At the last recorded follow-up visit, 92% of patients were on monotherapy, with greater representation of methylphenidate versus modafinil (51% vs. 32%). Among these patients, methylphenidate produced a higher percentage of “complete” or “partial” responses than modafinil, although statistical significance was not reached (38/40 [ 95%] vs 22/25 [88%], respectively, p = 0.291). Conclusions: The majority of patients with idiopathic hypersomnia respond well to treatment. Methylphenidate is chosen more often than modafinil as final monotherapy in the treatment of idiopathic hypersomnia, despite the fact that it is less commonly used initially. Further prospective comparisons of medications should be explored. Citation: Ali M; Auger RR; Slocumb NL; Morgenthaler TI. Idiopathic hypersomnia: clinical features and response to treatment. J Clin Sleep Med 2009;5(6):562-568. PMID:20465024

Ali, Mohsin; Auger, R. Robert; Slocumb, Nancy L.; Morgenthaler, Timothy I.

2009-01-01

85

Clinical features of constipation in general practice in Italy  

PubMed Central

Background Definition and diagnosis of constipation remain challenging, partly due to different perceptions of the disease by doctors and patients. Aim To evaluate prevalence and features of constipation among individuals seen in general practice, by comparing different diagnostic instruments. Methods Standardized questionnaires and the Bristol stool form scale were distributed to all subjects attending 10 general practitioners for any reason in a 2-week period. The questionnaires investigated constipation defined according to: (1) self-perception (yes/no); (2) a visual analogue scale; (3) Rome III Criteria. Results The prevalence of constipation in 1306 subjects (790 female, 516 male) resulted: (1) 34% self-reported; (2) 28% by visual analogue scale; (3) 24% by Rome Criteria. Constipation was more frequent in females. A high frequency of symptoms of obstructed defecations was observed with differences among patients with self-reported constipation with or without Bristol stool type 1–2. Conclusions Prevalence of constipation among individuals attending their GP ranges between 24 and 34%, according to the different definitions adopted. Symptoms of obstructed defecations are frequent. The combination of self-evaluation and the Bristol stool type scale is potentially useful to identify subgroups of patients with different clinical features in general practice. PMID:25360307

Cottone, Carmelo; Tosetti, Cesare; Disclafani, Giuseppe; Ubaldi, Enzo; Cogliandro, Rosanna

2014-01-01

86

Common variable immunodeficiency: clinical and immunological features of 248 patients.  

PubMed

Common variable immunodeficiency (CVI) is a primary immunodeficiency disease characterized by reduced serum immunoglobulins and heterogeneous clinical features. In these studies we describe the clinical and immunological status of 248 consecutively referred CVI patients of age range 3-79 years who have been followed for a period of 1-25 years. The median age at the time of onset of symptoms was 23 years for males and 28 years for females; the mean age at which the diagnosis of CVI was made was 29 years for males and 33 years for females. Forty percent of patients had impaired T cell proliferation to one or more mitogens; lymphocyte transformation to mitogens was directly related to the level of the serum IgG. Females at all ages had higher levels of serum IgM than males. Survival 20 years after diagnosis of CVI was 64% for males and 67% for females, compared to the expected 92% population survival for males and 94% for females. Parameters associated with mortality in this period were lower levels of serum IgG, poorer T cell responses to phytohemagglutinin, and, particularly, a lower percentage of peripheral B cells (P < 0.006). PMID:10413651

Cunningham-Rundles, C; Bodian, C

1999-07-01

87

Clinical features of endemic community-acquired psittacosis.  

PubMed

Following a large outbreak of community-acquired psittacosis in 2002 in residents of the Blue Mountains, New South Wales, Australia, we reviewed new cases in this area over a 7-year period from 2003 to 2009. Using the 2010 criteria from the Centers for Disease Control National Notifiable Diseases Surveillance System, 85 patients with possible psittacosis were identified, of which 48 were identified as definite or probable infection. Clinical features of these cases are summarized. In addition to Chlamydia-specific serology, specimens, where available, underwent nucleic acid testing for chlamydial DNA using real-time PCR. Chlamydophila psittaci DNA was detected in samples from 23 patients. Four of 18 specimens were culture positive. This is the first description of endemic psittacosis, and is characterized in this location by community-acquired psittacosis resulting from inadvertent exposure to birds. The disease is likely to be under-diagnosed, and may often be mistaken for gastroenteritis or meningitis given the frequency of non-respiratory symptoms, particularly without a history of contact with birds. Clinical characteristics of endemic and outbreak-associated cases were similar. The nature of exposure, risk factors and reasons for the occurrence of outbreaks of psittacosis require further investigation. PMID:25356332

Branley, J M; Weston, K M; England, J; Dwyer, D E; Sorrell, T C

2014-01-01

88

Clinical features of endemic community-acquired psittacosis  

PubMed Central

Following a large outbreak of community-acquired psittacosis in 2002 in residents of the Blue Mountains, New South Wales, Australia, we reviewed new cases in this area over a 7-year period from 2003 to 2009. Using the 2010 criteria from the Centers for Disease Control National Notifiable Diseases Surveillance System, 85 patients with possible psittacosis were identified, of which 48 were identified as definite or probable infection. Clinical features of these cases are summarized. In addition to Chlamydia-specific serology, specimens, where available, underwent nucleic acid testing for chlamydial DNA using real-time PCR. Chlamydophila psittaci DNA was detected in samples from 23 patients. Four of 18 specimens were culture positive. This is the first description of endemic psittacosis, and is characterized in this location by community-acquired psittacosis resulting from inadvertent exposure to birds. The disease is likely to be under-diagnosed, and may often be mistaken for gastroenteritis or meningitis given the frequency of non-respiratory symptoms, particularly without a history of contact with birds. Clinical characteristics of endemic and outbreak-associated cases were similar. The nature of exposure, risk factors and reasons for the occurrence of outbreaks of psittacosis require further investigation. PMID:25356332

Branley, J M; Weston, K M; England, J; Dwyer, D E; Sorrell, T C

2014-01-01

89

Clinical Features and Patient Management of Lujo Hemorrhagic Fever  

PubMed Central

Background In 2008 a nosocomial outbreak of five cases of viral hemorrhagic fever due to a novel arenavirus, Lujo virus, occurred in Johannesburg, South Africa. Lujo virus is only the second pathogenic arenavirus, after Lassa virus, to be recognized in Africa and the first in over 40 years. Because of the remote, resource-poor, and often politically unstable regions where Lassa fever and other viral hemorrhagic fevers typically occur, there have been few opportunities to undertake in-depth study of their clinical manifestations, transmission dynamics, pathogenesis, or response to treatment options typically available in industrialized countries. Methods and Findings We describe the clinical features of five cases of Lujo hemorrhagic fever and summarize their clinical management, as well as providing additional epidemiologic detail regarding the 2008 outbreak. Illness typically began with the abrupt onset of fever, malaise, headache, and myalgias followed successively by sore throat, chest pain, gastrointestinal symptoms, rash, minor hemorrhage, subconjunctival injection, and neck and facial swelling over the first week of illness. No major hemorrhage was noted. Neurological signs were sometimes seen in the late stages. Shock and multi-organ system failure, often with evidence of disseminated intravascular coagulopathy, ensued in the second week, with death in four of the five cases. Distinctive treatment components of the one surviving patient included rapid commencement of the antiviral drug ribavirin and administration of HMG-CoA reductase inhibitors (statins), N-acetylcysteine, and recombinant factor VIIa. Conclusions Lujo virus causes a clinical syndrome remarkably similar to Lassa fever. Considering the high case-fatality and significant logistical impediments to controlled treatment efficacy trials for viral hemorrhagic fever, it is both logical and ethical to explore the use of the various compounds used in the treatment of the surviving case reported here in future outbreaks. Clinical observations should be systematically recorded to facilitate objective evaluation of treatment efficacy. Due to the risk of secondary transmission, viral hemorrhagic fever precautions should be implemented for all cases of Lujo virus infection, with specialized precautions to protect against aerosols when performing enhanced-risk procedures such as endotracheal intubation. PMID:25393244

Sewlall, Nivesh H.; Richards, Guy; Duse, Adriano; Swanepoel, Robert; Paweska, Janusz; Blumberg, Lucille; Dinh, Thu Ha; Bausch, Daniel

2014-01-01

90

Clinical and genetic features of Huntington disease in Sri Lanka  

PubMed Central

Background Huntington disease was one of the first neurological hereditary diseases for which genetic testing was made possible as early as 1993. The study describes the clinical and genetic characteristics of patients with Huntington disease in Sri Lanka. Methods Data of 35 consecutive patients tested from 2007 to 2012 at the Human Genetics Unit, Faculty of Medicine, University of Colombo was analyzed retrospectively. Clinical data and genetic diagnostic results were reviewed. Statistical analysis was performed using descriptive statistics. Results Thirty patients had fully penetrant (FP) CAG repeat mutations and 5 had reduced penetrant (RP) CAG repeat mutations. In the FP group mean ages of onset and diagnosis were 37.5 and 40.4 years, while in the RP group it was 63.0 and 64.8 years respectively. The age of diagnosis ranged from 15 to 72 years, with 2 patients with Juvenile onset (<20 years) and 3 with late onset (>60 years) Huntington disease. The symptoms at diagnosis were predominantly motor (32/35 -91%). Three patients had psychiatric and behavioral disorders. The age difference between onset and genetic diagnosis showed significant delay in females compared to males (p?clinical and genetic features seen in patients with Huntington disease in the Sri Lankan study population were similar to that previously reported in literature. PMID:24314096

2013-01-01

91

Schizencephaly: clinical and imaging features in 30 infantile cases.  

PubMed

Schizencephaly is an uncommon structural disorder of cerebral cortical development, characterized by congenital clefts spanning the cerebral hemispheres from the pial surface to the lateral ventricles and lined by cortical gray matter. Either an antenatal environmental incident or a genetic origin could be responsible for this lesion which occurs between the third and fourth month of gestation. We report the clinical and cranial imaging features of 30 children, of whom 15 had unilateral and 15 had bilateral lesions. Their ages at the time of the first presentation ranged from 1 month to 10 years. They were thoroughly studied from clinical, epileptical, imaging and electroencephalographic (EEG) viewpoints. Five patients were investigated by cranial computed tomography (CT), eight by cranial magnetic resonance (MR) imaging, and 17 by both methods. The clinical features consisted of mild hemiparesis in 17 cases (57%), 12/17 were related to a unilateral phenotype (80% of all unilateral forms) and 5/17 to a bilateral phenotype. A tetraparesis was present in nine cases, all of which were due to a bilateral cleft. Bilateral forms were significantly associated with tetraparesis, whereas unilateral forms were associated with hemiparesis. Mental retardation was observed in 17 cases (57%), and was observed significantly more often in bilateral clefts (80%). When both hemispheres are involved, an absence of reorganization of the brain function between the two hemispheres leads to severe mental deficits, in addition to the cerebral anomaly itself. Eleven patients had seizures (seven from unilateral and three from bilateral forms). The degree of malformation was not related to the severity of epilepsy. Migration disorders, such as dysplasia or heterotopia, were observed in 30% of cases and are also important etiopathogenetic factors. The septum pellucidum was absent in 13 cases (43%), with septo-optical dysplasia in two cases. Corpus callosum dysgenesis was noted in 30% of cases. Four cases of mega cisterna magna were noted. Although familial cases and environmental factors have been previously reported, schizencephaly appears to be, in the majority of cases, sporadic. PMID:11111060

Denis, D; Chateil, J F; Brun, M; Brissaud, O; Lacombe, D; Fontan, D; Flurin, V; Pedespan, J

2000-12-01

92

Towards Dynamic and Interactive Retrieval of Clinical Trials Using Common Eligibility Features  

E-print Network

Towards Dynamic and Interactive Retrieval of Clinical Trials Using Common Eligibility Features Abstract Information overload is a barrier for patients identifying relevant clinical trials online. We present a framework to dynamically refine clinical trial search results towards a manually reviewable

Miotto, Riccardo

93

Hippocampal sclerosis in advanced age: clinical and pathological features  

PubMed Central

Hippocampal sclerosis is a relatively common neuropathological finding (?10% of individuals over the age of 85 years) characterized by cell loss and gliosis in the hippocampus that is not explained by Alzheimer’s disease. Hippocampal sclerosis pathology can be associated with different underlying causes, and we refer to hippocampal sclerosis in the aged brain as hippocampal sclerosis associated with ageing. Much remains unknown about hippocampal sclerosis associated with ageing. We combined three different large autopsy cohorts: University of Kentucky Alzheimer’s Disease Centre, the Nun Study and the Georgia Centenarian Study to obtain a pool of 1110 patients, all of whom were evaluated neuropathologically at the University of Kentucky. We focused on the subset of cases with neuropathology-confirmed hippocampal sclerosis (n = 106). For individuals aged ?95 years at death (n = 179 in our sample), each year of life beyond the age of 95 years correlated with increased prevalence of hippocampal sclerosis pathology and decreased prevalence of ‘definite’ Alzheimer’s disease pathology. Aberrant TAR DNA protein 43 immunohistochemistry was seen in 89.9% of hippocampal sclerosis positive patients compared with 9.7% of hippocampal sclerosis negative patients. TAR DNA protein 43 immunohistochemistry can be used to demonstrate that the disease is usually bilateral even when hippocampal sclerosis pathology is not obvious by haematoxylin and eosin stains. TAR DNA protein 43 immunohistochemistry was negative on brain sections from younger individuals (n = 10) after hippocampectomy due to seizures, who had pathologically confirmed hippocampal sclerosis. There was no association between cases with hippocampal sclerosis associated with ageing and apolipoprotein E genotype. Age of death and clinical features of hippocampal sclerosis associated with ageing (with or without aberrant TAR DNA protein 43) were distinct from previously published cases of frontotemporal lobar degeneration TAR DNA protein 43. To help sharpen our ability to discriminate patients with hippocampal sclerosis associated with ageing clinically, the longitudinal cognitive profile of 43 patients with hippocampal sclerosis associated with ageing was compared with the profiles of 75 controls matched for age, gender, education level and apolipoprotein E genotype. These individuals were followed from intake assessment, with 8.2 (average) longitudinal cognitive assessments. A neuropsychological profile with relatively high-verbal fluency but low word list recall distinguished the hippocampal sclerosis associated with ageing group at intake (P < 0.015) and also 5.5–6.5 years before death (P < 0.005). This may provide a first step in clinical differentiation of hippocampal sclerosis associated with ageing versus pure Alzheimer’s disease in their earliest stages. In summary, in the largest series of autopsy-verified patients with hippocampal sclerosis to date, we characterized the clinical and pathological features associated with hippocampal sclerosis associated with ageing. PMID:21596774

Schmitt, Frederick A.; Lin, Yushun; Abner, Erin L.; Jicha, Gregory A.; Patel, Ela; Thomason, Paula C.; Neltner, Janna H.; Smith, Charles D.; Santacruz, Karen S.; Sonnen, Joshua A.; Poon, Leonard W.; Gearing, Marla; Green, Robert C.; Woodard, John L.; Van Eldik, Linda J.; Kryscio, Richard J.

2011-01-01

94

Clinical features of coronary artery ectasia in the elderly  

PubMed Central

Objective To investigate the incidence, imaging and clinical characteristics in elderly patients with coronary artery ectasia (CAE). Methods A retrospective analysis was conducted on patients with CAE who underwent coronary angiography between January 2006 and December 2012. According to age, the enrolled patients were divided into two groups (elderly group, age ? 65 years; non-elderly group, age < 65 years). The clinical feature, imaging characteristics and the 5-year survival rate of the two groups were compared. Results The prevalence of CAE in elderly patients was 0.33%. Patients in elderly group were found to have significantly higher proportion of female (30.1% vs. 10.1%, P < 0.001), three-vessel disease (60.5% vs. 45.2%, P = 0.003) and localized ectasia (55.0% vs. 40.2%, P = 0.003). In addition, body mass index (20.90 ± 2.71 kg/m2 vs. 22.31 ± 2.98 kg/m2, P < 0.001) and percentage of current smokers (45.0% vs. 64.6%, P < 0.001) were significantly lower in elderly group. Cumulative survival curves demonstrated reduced 5-year cumulative survival at the follow-up in the elderly group compared with the non-elderly group (88.0% vs. 96.0%, P = 0.002). But the 5-year event free survival rate failed to show a significant difference between the two groups (31.0% vs. 35.0%, P = 0.311). Conclusion The prevalence of CAE in elderly patients was 0.33%, which was about 1/3 of the entire numbers of CAE patients. There were significant differences between the elderly and the non-elderly patients with CAE in terms of coronary artery disease risk factors and coronary artery ectatic characteristics. CAE might be associated with increased mortality risk in the elderly. PMID:25278965

Huang, Qiao-Juan; Zhang, Yan; Li, Xiao-Lin; Li, Sha; Guo, Yuan-Lin; Zhu, Cheng-Gang; Xu, Rui-Xia; Jiang, Li-Xin; Chen, Meng-Hua; Li, Jian-Jun

2014-01-01

95

Clinical, Epidemiologic, Histopathologic and Molecular Features of an Unexplained Dermopathy  

PubMed Central

Background Morgellons is a poorly characterized constellation of symptoms, with the primary manifestations involving the skin. We conducted an investigation of this unexplained dermopathy to characterize the clinical and epidemiologic features and explore potential etiologies. Methods A descriptive study was conducted among persons at least 13 years of age and enrolled in Kaiser Permanente Northern California (KPNC) during 2006–2008. A case was defined as the self-reported emergence of fibers or materials from the skin accompanied by skin lesions and/or disturbing skin sensations. We collected detailed epidemiologic data, performed clinical evaluations and geospatial analyses and analyzed materials collected from participants' skin. Results We identified 115 case-patients. The prevalence was 3.65 (95% CI?=?2.98, 4.40) cases per 100,000 enrollees. There was no clustering of cases within the 13-county KPNC catchment area (p?=?.113). Case-patients had a median age of 52 years (range: 17–93) and were primarily female (77%) and Caucasian (77%). Multi-system complaints were common; 70% reported chronic fatigue and 54% rated their overall health as fair or poor with mean Physical Component Scores and Mental Component Scores of 36.63 (SD?=?12.9) and 35.45 (SD?=?12.89), respectively. Cognitive deficits were detected in 59% of case-patients and 63% had evidence of clinically significant somatic complaints; 50% had drugs detected in hair samples and 78% reported exposure to solvents. Solar elastosis was the most common histopathologic abnormality (51% of biopsies); skin lesions were most consistent with arthropod bites or chronic excoriations. No parasites or mycobacteria were detected. Most materials collected from participants' skin were composed of cellulose, likely of cotton origin. Conclusions This unexplained dermopathy was rare among this population of Northern California residents, but associated with significantly reduced health-related quality of life. No common underlying medical condition or infectious source was identified, similar to more commonly recognized conditions such as delusional infestation. PMID:22295070

Pearson, Michele L.; Selby, Joseph V.; Katz, Kenneth A.; Cantrell, Virginia; Braden, Christopher R.; Parise, Monica E.; Paddock, Christopher D.; Lewin-Smith, Michael R.; Kalasinsky, Victor F.; Goldstein, Felicia C.; Hightower, Allen W.; Papier, Arthur; Lewis, Brian; Motipara, Sarita; Eberhard, Mark L.

2012-01-01

96

Delta hepatitis: molecular biology and clinical and epidemiological features.  

PubMed Central

Hepatitis delta virus, discovered in 1977, requires the help of hepatitis B virus to replicate in hepatocytes and is an important cause of acute, fulminant, and chronic liver disease in many regions of the world. Because of the helper function of hepatitis delta virus, infection with it occurs either as a coinfection with hepatitis B or as a superinfection of a carrier of hepatitis B surface antigen. Although the mechanisms of transmission are similar to those of hepatitis B virus, the patterns of transmission of delta virus vary widely around the world. In regions of the world in which hepatitis delta virus infection is not endemic, the disease is confined to groups at high risk of acquiring hepatitis B infection and high-risk hepatitis B carriers. Because of the propensity of this viral infection to cause fulminant as well as chronic liver disease, continued incursion of hepatitis delta virus into areas of the world where persistent hepatitis B infection is endemic will have serious implications. Prevention depends on the widespread use of hepatitis B vaccine. This review focuses on the molecular biology and the clinical and epidemiologic features of this important viral infection. PMID:8358704

Polish, L B; Gallagher, M; Fields, H A; Hadler, S C

1993-01-01

97

Clinical Features and Outcomes Differ between Skeletal and Extraskeletal Osteosarcoma.  

PubMed

Background. Extraskeletal osteosarcoma (ESOS) is a rare subtype of osteosarcoma. We investigated patient characteristics, overall survival, and prognostic factors in ESOS. Methods. We identified cases of high-grade osteosarcoma with known tissue of origin in the Surveillance, Epidemiology, and End Results database from 1973 to 2009. Demographics were compared using univariate tests. Overall survival was compared with log-rank tests and multivariate analysis using Cox proportional hazards methods. Results. 256/4,173 (6%) patients with high-grade osteosarcoma had ESOS. Patients with ESOS were older, were more likely to have an axial tumor and regional lymph node involvement, and were female. Multivariate analysis showed ESOS to be favorable after controlling for stage, age, tumor site, gender, and year of diagnosis [hazard ratio 0.75 (95% CI 0.62 to 0.90); p = 0.002]. There was an interaction between age and tissue of origin such that older patients with ESOS had superior outcomes compared to older patients with skeletal osteosarcoma. Adverse prognostic factors in ESOS included metastatic disease, larger tumor size, older age, and axial tumor site. Conclusion. Patients with ESOS have distinct clinical features but similar prognostic factors compared to skeletal osteosarcoma. Older patients with ESOS have superior outcomes compared to older patients with skeletal osteosarcoma. PMID:25294959

Thampi, Sheila; Matthay, Katherine K; Boscardin, W John; Goldsby, Robert; DuBois, Steven G

2014-01-01

98

Clinical Features and Outcomes Differ between Skeletal and Extraskeletal Osteosarcoma  

PubMed Central

Background. Extraskeletal osteosarcoma (ESOS) is a rare subtype of osteosarcoma. We investigated patient characteristics, overall survival, and prognostic factors in ESOS. Methods. We identified cases of high-grade osteosarcoma with known tissue of origin in the Surveillance, Epidemiology, and End Results database from 1973 to 2009. Demographics were compared using univariate tests. Overall survival was compared with log-rank tests and multivariate analysis using Cox proportional hazards methods. Results. 256/4,173 (6%) patients with high-grade osteosarcoma had ESOS. Patients with ESOS were older, were more likely to have an axial tumor and regional lymph node involvement, and were female. Multivariate analysis showed ESOS to be favorable after controlling for stage, age, tumor site, gender, and year of diagnosis [hazard ratio 0.75 (95% CI 0.62 to 0.90); p = 0.002]. There was an interaction between age and tissue of origin such that older patients with ESOS had superior outcomes compared to older patients with skeletal osteosarcoma. Adverse prognostic factors in ESOS included metastatic disease, larger tumor size, older age, and axial tumor site. Conclusion. Patients with ESOS have distinct clinical features but similar prognostic factors compared to skeletal osteosarcoma. Older patients with ESOS have superior outcomes compared to older patients with skeletal osteosarcoma. PMID:25294959

Thampi, Sheila; Matthay, Katherine K.; Boscardin, W. John; Goldsby, Robert; DuBois, Steven G.

2014-01-01

99

Update on clinical and immunological features of eosinophilic gastrointestinal diseases  

PubMed Central

Purpose of review Eosinophilic gastrointestinal diseases (EGIDs) are an increasingly common heterogeneous group of intestinal diseases. The purpose of this review is to present the latest developments in the care of patients with EGIDs and to summarize a growing literature defining the clinical features and mechanistic elements of eosinophils and their complex relationships with the gastrointestinal tract. Recent findings Recent studies continue to define what constitutes ‘normal’ and ‘abnormal’ numbers of eosinophils in the different sections of the gastrointestinal tract. Symptom complexes of EGIDs appear to be related primarily to the mucosal, as opposed to the muscular or serosal, forms of EGIDs. Dissection of the mucosal microenvironment is uncovering a complex array of cells, other than eosinophils, that likely contribute to the inflammatory response associated with EGIDs. Mechanistic studies have identified genetic perturbations (eotaxin-3, thymic stromal lymphopoietin, IL-13, and filaggrin) that may also contribute to the development of the most often encountered and well studied EGID, eosinophilic esophagitis. Summary Clinicians should remain aware of EGIDs as a diagnostic possibility for patients with common gastrointestinal symptoms. Additional research is needed to determine mechanistic processes leading to dysfunction associated with eosinophilic gastrointestinal inflammation. PMID:21897226

Masterson, Joanne C.; Furuta, Glenn T.; Lee, James J.

2014-01-01

100

Clinical and serologic features of patients with polymyositis or dermatomyositis  

PubMed Central

The clinical and serologic features of 36 patients with polymyositis (PM) or dermatomyositis (DM) were observed over a 5-year period. The mean age of the patients at the time of diagnosis was 48.5 years, and 61% were female. According to widely accepted diagnostic criteria 50% had PM (group I), 14% DM (group II), 11% PM or DM associated with malignant disease (group III) and 25% PM or DM associated with a connective tissue disorder (group V). None of the patients had childhood PM or DM associated with vasculitis (group IV). All the patients had muscle weakness, and 94% of the patients tested had an elevated serum level of creatine kinase. The average delay from the onset of symptoms to diagnosis was 14 months overall but only 2.3 months for the DM patients. Of the 30 patients whose serum was tested, 73% had antinuclear antibodies, with antibodies to nuclear ribonucleoprotein being most common in group V patients and antibodies directed against the Jo-1 antigen being restricted to patients with PM alone (group I). ImagesFig. 1 PMID:3872156

Holden, Daniel J.; Brownell, A. Keith W.; Fritzler, Marvin J.

1985-01-01

101

Idiopathic hypertrophic pachymeningitis: clinical, laboratory and neuroradiologic features in China.  

PubMed

Hypertrophic pachymeningitis is a rare chronic inflammatory disorder characterized by marked fibrous thickening of the cerebral and/or spinal dura mater. Clinical, laboratory, neuroradiologic and therapeutic data from 12 patients with idiopathic hypertrophic pachymeningitis (IHP) from our department were retrospectively studied. There were four men and eight women with a mean age of 49±15.3 years, and more than half of the patients (58%) were aged 40-60 years. Headache was the most common symptom, occurring in 92% of patients. Headache improved markedly and rapidly after glucocorticoid treatment. Optic nerve involvement was noted in seven patients (58%). C-reactive protein levels increased in 80% and the erythrocyte sedimentation rate increased in 71% of patients. Three patients were positive for autoantibodies, including antinuclear antibodies (ANA), perinuclear anti-neutrophil cytoplasmic antibodies (p-ANCA), anti-cardiolipin antibodies (ACA) and rheumatoid factor (RF). Cerebrospinal fluid showed inflammatory changes, and protein levels were low to moderately elevated. MRI revealed a thickened dura in all patients, and five patients (42%) were diagnosed with sinus stenosis/occlusion. IHP is a chronic inflammatory disorder of the dura with three groups of symptoms, namely headache, cranial nerve palsy and symptoms due to sinus stenosis/occlusion. However, IHP has different features in China in that it predominantly affects women and the age of onset is younger. Sinus stenosis/occlusion is relatively common in IHP patients in China. PMID:24589555

Zhao, Mangsuo; Geng, Tongchao; Qiao, Liyan; Shi, Jie; Xie, Jinghui; Huang, Fangjie; Lin, Xianzhong; Wang, Jing; Zuo, Huancong

2014-07-01

102

Clinical Features: Features of patients with SLC9A6 mutations include mental retardation, microcephaly, truncal ataxia, grand mal  

E-print Network

, microcephaly, truncal ataxia, grand mal epilepsy and lack of speech [1] [OMIM #300243]. The clinical features microcephaly by two years of age [2]. Patients have minimal to absent language skills despite normal hearing

Das, Soma

103

Clinical Features: Features of patients with SLC9A6 mutations include mental retardation, microcephaly, truncal ataxia, grand mal  

E-print Network

, microcephaly, truncal ataxia, grand mal epilepsy and lack of speech (1) [OMIM #300243]. The clinical features microcephaly by two years of age (2). Patients have minimal to absent language skills despite normal hearing

Das, Soma

104

Clinical features of macrocephaly at birth in Korea  

PubMed Central

Purpose This study aimed to investigate the clinical features of macrocephaly at birth in Korea using ultrasonography. Methods We retrospectively investigated the medical records of full-term birth neonates in Cheil General Hospital & Women's Healthcare Center from January 2000 to June 2012. The following parameters were recorded and analyzed: gestational age, sex, birth weight, height, occipitofrontal circumference (OFC), physical examination, perinatal problems, and ultrasonography results. Macrocephaly was diagnosed when the OFC was greater than two standard deviations, based on the 2007 Korean National Growth Charts. Results There were 75 neonates with macrocephaly at birth (52 boys and 23 girls), with a mean OFC of 38.1±0.49 cm. A comparison of the birth weight and height with the OFC value showed that height was correlated with OFC (r=0.35) but birth weight was not correlated with OFC (r=0.06). There were no remarkable findings in 56 cases (75%). Germinal matrix hemorrhage was identified in 10 cases (13%). An enlarged cerebrospinal fluid space was found in 5 cases (6.7%). There were 3 cases of mega-cisterna magna (4%), 1 case of ventriculomegaly, and 1 case of an enlarged interhemispheric space (6 mm) among these patients. In addition, a choroid plexus cyst was seen in 1 case. Mineralizing vasculopathy in both basal ganglia with no evidence of congenital infection was found in 2 cases and an asymptomatic subarachnoid hemorrhage was found in 1 case. Conclusion Our results indicate that macrocephaly at birth has benign ultrasonography findings and shows a pattern of male dominance. PMID:24678331

Kim, Minkyun; Han, Byoung Hee

2014-01-01

105

Fecal incontinence in men: Causes and clinical and manometric features  

PubMed Central

AIM: To determine the causes and characteristics of fecal incontinence in men and to compare these features with those presented by a group of women with the same problem. METHODS: We analyzed the medical history, clinical and manometric data from 119 men with fecal incontinence studied in our unit and compared these data with those obtained from 645 women studied for the same problem. Response to treatment was evaluated after 6 mo of follow-up. RESULTS: Fifteen percent of patients studied in our unit for fecal incontinence were male. Men took longer than women before asking for medical help. Ano-rectal surgery was the most common risk factor for men related to fecal incontinence. Chronic diarrhea was present in more than 40% of patients in both groups. Decreased resting and external anal sphincter pressures were more frequent in women. No significant differences existed between the sexes regarding rectal sensitivity and recto-anal inhibitory reflex. In 17.8% of men, all presenting soiling, manometric findings did not justify fecal incontinence. Response to treatment was good in both groups, as 80.4% of patients improved and fecal incontinence disappeared in 13.2% of them. CONCLUSION: In our series, it was common that men waited longer in seeking medical help for fecal incontinence. Ano-rectal surgery was the major cause of this problem. Chronic diarrhea was a predisposing factor in both sexes. Manometric differences between groups were limited to an increased frequency of hypotony of the external anal sphincter in women. Fecal incontinence was controllable in most patients. PMID:24976729

Munoz-Yague, Teresa; Solis-Munoz, Pablo; Ciriza de los Rios, Constanza; Munoz-Garrido, Francisco; Vara, Jesus; Solis-Herruzo, Jose Antonio

2014-01-01

106

Clinical features of chikungunya infection in Sri Lanka  

PubMed Central

Objective To investigate the clinical features of chikungunya fever (CHIKF) outbreak in Sri Lanka in 2006 and to estimate the relative risk for CHIKF for various demographic factors. Methods A total of 885 individuals belonging to 200 families were studied individually for surveillance of this disease, symptoms, contraction order within the family and means of treatments. Relative risks for CHIKF for demographic characters such as gender, age and educational levels were estimated. The associations of symptoms with age and gender were also studied. Results The estimated surveillance of CHIKF in the studied population was 89.2%. The duration of suffering due to this disease was 50.9 d (95% CI, 47.3, 53.9 d) with fever for 3.9 d (95% CI, 3.7, 4.1 d). 93% of the CHIKF patients felt at least one type of joint pain and 8% felt joint swellings. Rash was observed in 15.1% of the patients. Buccal bleeding and mouth ulcer were observed in 1.5% and 9.3% respectively. About 22.7% of the CHIKF patients had vomiting. Female had 1.48 folder higher relative risk for CHIKF infection. The duration suffered due to CHIKF, duration of fever and contraction order within family were highly associated with age (P<0.000). Female patients had more than one folder higher relative risks for the symptoms such as rash, vomiting, buccal bleeding and mouth ulcer (P<0.000). Conclusions The surveillance of CHIKF in Sri Lanka was a severe outbreak which infected much on female and caused more suffering on aged population. The symptoms such as rash, bleeding from mucosa, mouth ulcer and vomiting were highly associated with gender. The reasons for these observations need to be further explored.

Razmy, Athambawa Mohamed

2014-01-01

107

Senile Systemic Amyloidosis: Clinical Features at Presentation and Outcome  

PubMed Central

Background Cardiac amyloidosis is a fatal disease whose prognosis and treatment rely on identification of the amyloid type. In our aging population transthyretin amyloidosis (ATTRwt) is common and must be differentiated from other amyloid types. We report the clinical presentation, natural history, and prognostic features of ATTRwt compared with cardiac?isolated AL amyloidosis and calculate the probability of disease diagnosis of ATTRwt from baseline factors. Methods and Results All patients with biopsy?proven ATTRwt (102 cases) and isolated cardiac AL (36 cases) seen from 2002 to 2011 at the UK National Amyloidosis Center were included. Median survival from the onset of symptoms was 6.07 years in the ATTRwt group and 1.7 years in the AL group. Positive troponin, a pacemaker, and increasing New York Heart Association (NYHA) class were associated with worse survival in ATTRwt patients on univariate analysis. All patients with isolated cardiac AL and 24.1% of patients with ATTRwt had evidence of a plasma cell dyscrasia. Older age and lower N?terminal pro?B?type natriuretic peptide (NT pro?BNP) were factors significantly associated with ATTRwt. Patients aged 70 years and younger with an NT pro?BNP <183 pmol/L were more likely to have ATTRwt, as were patients older than 70 years with an NT pro?BNP <1420 pmol/L. Conclusions Factors at baseline associated with a worse outcome in ATTRwt are positive troponin T, a pacemaker, and NYHA class IV symptoms. The age of the patient at diagnosis and NT pro?BNP level can aid in distinguishing ATTRwt from AL amyloidosis. PMID:23608605

Pinney, Jennifer H.; Whelan, Carol J.; Petrie, Aviva; Dungu, Jason; Banypersad, Sanjay M.; Sattianayagam, Prayman; Wechalekar, Ashutosh; Gibbs, Simon D. J.; Venner, Christopher P.; Wassef, Nancy; McCarthy, Carolyn A.; Gilbertson, Janet A.; Rowczenio, Dorota; Hawkins, Philip N.; Gillmore, Julian D.; Lachmann, Helen J.

2013-01-01

108

Clinical features of paediatric pulmonary hypertension: a registry study  

PubMed Central

Summary Background Paediatric pulmonary hypertension, is an important cause of morbidity and mortality, and is insufficiently characterised in children. The Tracking Outcomes and Practice in Pediatric Pulmonary Hypertension (TOPP) registry is a global, prospective study designed to provide information about demographics, treatment, and outcomes in paediatric pulmonary hypertension. Methods Consecutive patients aged 18 years or younger at diagnosis with pulmonary hypertension and increased pulmonary vascular resistance were enrolled in TOPP at 31 centres in 19 countries from Jan 31, 2008, to Feb 15, 2010. Patient and disease characteristics, including age at diagnosis and at enrolment, sex, ethnicity, presenting symptoms, pulmonary hypertension classification, comorbid disorders, medical and family history, haemodynamic indices, and functional class were recorded. Follow-up was decided by the patients’ physicians according to the individual’s health-care needs. Findings 362 of 456 consecutive patients had confirmed pulmonary hypertension (defined as mean pulmonary artery pressure ?25 mm Hg, pulmonary capillary wedge pressure ?12 mm Hg, and pulmonary vascular resistance index ?3 WU/m32). 317 (88%) patients had pulmonary arterial hypertension (PAH), which was idiopathic [IPAH] or familial [FPAH] in 182 (57%), and associated with other disorders in 135 (43%), of which 115 (85%) cases were associated with congenital heart disease. 42 patients (12%) had pulmonary hypertension associated with respiratory disease or hypoxaemia, with bronchopulmonary dysplasia most frequent. Finally, only three patients had either chronic thromboembolic pulmonary hypertension or miscellaneous causes of pulmonary hypertension. Chromosomal anomalies, mainly trisomy 21, were reported in 47 (13%) of patients with confirmed disease. Median age at diagnosis was 7 years (IQR 3–12); 59% (268 of 456) were female. Although dyspnoea and fatigue were the most frequent symptoms, syncope occurred in 31% (57 of 182) of patients with IPAH or FPAH and in 18% (eight of 45) of those with repaired congenital heart disease; no children with unrepaired congenital systemic-to-pulmonary shunts had syncope. Despite severe pulmonary hypertension, functional class was I or II in 230 of 362 (64%) patients, which is consistent with preserved right-heart function. Interpretation TOPP identifies important clinical features specific to the care of paediatric pulmonary hypertension, which draw attention to the need for paediatric data rather than extrapolation from adult studies. Funding Actelion Pharmaceuticals. PMID:22240409

Berger, Rolf M F; Beghetti, Maurice; Humpl, Tilman; Raskob, Gary E; Ivy, D Dunbar; Jing, Zhi-Cheng; Bonnet, Damien; Schulze-Neick, Ingram; Barst, Robyn J

2012-01-01

109

Exertional dyspnea in mitochondrial myopathy: clinical features and physiological mechanisms  

PubMed Central

Exertional dyspnea limits exercise in some mitochondrial myopathy (MM) patients, but the clinical features of this syndrome are poorly defined, and its underlying mechanism is unknown. We evaluated ventilation and arterial blood gases during cycle exercise and recovery in five MM patients with exertional dyspnea and genetically defined mitochondrial defects, and in four control subjects (C). Patient ventilation was normal at rest. During exercise, MM patients had low V?o2peak (28 ± 9% of predicted) and exaggerated systemic O2 delivery relative to O2 utilization (i.e., a hyperkinetic circulation). High perceived breathing effort in patients was associated with exaggerated ventilation relative to metabolic rate with high V?e/V?o2peak, (MM = 104 ± 18; C = 42 ± 8, P ? 0.001), and V?e/V?co2peak, (MM = 54 ± 9; C = 34 ± 7, P ? 0.01); a steeper slope of increase in ?V?e/?V?co2 (MM = 50.0 ± 6.9; C = 32.2 ± 6.6, P ? 0.01); and elevated peak respiratory exchange ratio (RER), (MM = 1.95 ± 0.31, C = 1.25 ± 0.03, P ? 0.01). Arterial lactate was higher in MM patients, and evidence for ventilatory compensation to metabolic acidosis included lower PaCO2 and standard bicarbonate. However, during 5 min of recovery, despite a further fall in arterial pH and lactate elevation, ventilation in MM rapidly normalized. These data indicate that exertional dyspnea in MM is attributable to mitochondrial defects that severely impair muscle oxidative phosphorylation and result in a hyperkinetic circulation in exercise. Exaggerated exercise ventilation is indicated by markedly elevated V?e/V?o2, V?e/V?co2, and RER. While lactic acidosis likely contributes to exercise hyperventilation, the fact that ventilation normalizes during recovery from exercise despite increasing metabolic acidosis strongly indicates that additional, exercise-specific mechanisms are responsible for this distinctive pattern of exercise ventilation. PMID:21813873

Taivassalo, Tanja; Wyrick, Phil; Wood, Helen; Babb, Tony G.; Haller, Ronald G.

2011-01-01

110

Focal extratemporal epilepsy: clinical features, EEG patterns, and surgical approach  

Microsoft Academic Search

The objective of this review is a summary of the clinical and electrographic findings in those forms of epilepsy to which the term ‘extratemporal’ (ExT) can be applied. They form a group that differs in many ways from the better known temporal lobe epilepsies. Seizure foci are difficult to localize by clinical semiology alone but modern imaging now often allows

Roman L Kutsy

1999-01-01

111

Clinical features of A3243G mitochondrial tRNA mutation  

Microsoft Academic Search

Mitochondrial cytopathy is a heterogeneous group of disorders with a wide range of clinical features. To evaluate the incidence and clinical heterogeneity of A3243G mitochondrial tRNA mutation in the Korean population, we evaluated patients who were clinically suggestive of having mitochondrial encephalomyopathy. Eighty-five patients were included in this study. All showed clinical features of mitochondrial encephalomyopathy and had three or

Jong Hee Chae; Hee Hwang; Byung Chan Lim; Hae Il Cheong; Yong Seung Hwang; Ki Joong Kim

2004-01-01

112

Newly described clinical and immunopathological feature of dermatitis herpetiformis.  

PubMed

Dermatitis herpetiformis (DH) is an inflammatory cutaneous disease with typical histopathological and immunopathological findings clinically characterized by intensely pruritic polymorphic lesions with a chronic-relapsing course. In addition to classic clinical manifestations of DH, atypical variants are more and more frequently reported and histological and immunological are added to them, whereas the impact on quality of life of patients with DH is increasingly important to a certain diagnosis. The aim of this paper is to describe all the possible clinical, histological, and immunological variants of DH in order to facilitate the diagnosis of a rare disease and, therefore, little known. PMID:22701503

Bonciolini, Veronica; Bonciani, Diletta; Verdelli, Alice; D'Errico, Antonietta; Antiga, Emiliano; Fabbri, Paolo; Caproni, Marzia

2012-01-01

113

Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features  

Microsoft Academic Search

Although clinical features in Turner syndrome have been well defined, underlying genetic factors have not been clarified. To deduce the factors leading to the development of clinical features, we took the following four steps: (1) assessment of clinical features in classic 45,X Turner syndrome; (2) review of clinical features in various female sex chromosome aberrations (karyotype-phenotype correlations); (3) assessment of

Tsutomu Ogata; Nobutake Matsuo

1995-01-01

114

Autoimmune Hepatitis in Children, Clinical Features and Biochemical of Iranian Children  

Microsoft Academic Search

Background There are only a very small number of reports which discuss subtype, sex distribution, clinical features and laboratory characteristics of autoimmune hepatitis in children. The aim of this study was both to define the clinical features, biochemical and histological findings and also to determine the age and sex related distribution of autoimmune hepatitis (AIH). Materials and Methods Data of

Mehri Najafi; Hamid Reza Kianifar; Seyed Mohammad; Mehdi Mir-Nasseri; Ahmad Khodadad

115

Early-Onset Psychoses: Comparison of Clinical Features and Adult Outcome in 3 Diagnostic Groups  

ERIC Educational Resources Information Center

A comparison of clinical features and adult outcome in adolescents with three types of psychotic disorders: schizophrenic (SPh), schizoaffective (SA) and bipolar with psychotic features (BPP). Subjects (n = 41) were finally diagnosed (DSM-IV criteria) with SPh (n = 17), SA (n = 11) or BPP (n = 13). Clinical evaluation took place at onset and at a…

Ledda, Maria Giuseppina; Fratta, Anna Lisa; Pintor, Manuela; Zuddas, Alessandro; Cianchetti, Carlo

2009-01-01

116

Implication on Aqueous History of Mars as Revealed by Hydrous Minerals in Southwest Melas Chasma  

NASA Astrophysics Data System (ADS)

We made new detections of hydrous minerals in southwest Melas Chasma including poly- and mono-hydrated sulfates, jarosite, and Fe/Mg smectites, and explored their possible formation mechanisms and implications on martian aqueous history.

Liu, Y.; Glotch, T. D.

2014-07-01

117

First record of the black bullhead Ameiurus melas (Teleostei: Ictaluridae) in Poland.  

PubMed

The North American catfish, the black bullhead Ameiurus melas, is recorded for the first time in Poland. The origin of these fish is not clear, but their presence may be associated with unregulated introductions by anglers. PMID:20537032

Nowak, M; Kosco, J; Popek, W; Epler, P

2010-04-01

118

Sublacustrine depositional fans in southwest Melas Chasma Joannah M. Metz,1  

E-print Network

Sublacustrine depositional fans in southwest Melas Chasma Joannah M. Metz,1 John P. Grotzinger,1 of Mars for at least 102 to 104 years. Citation: Metz, J. M., J. P. Grotzinger, D. Mohrig, R. Milliken, B

Grotzinger, John P.

119

Atypical depression among psychiatric inpatients: clinical features and personality traits  

Microsoft Academic Search

Objective: This study investigates the frequency and characteristics of Atypical Depression (AD) among depressed inpatients. Method: Twenty-one depressed inpatients received DSM-IV diagnoses, were rated on the Hamilton Depression Rating Scale (HAMD), and assessed for AD using the Atypical Depressive Disorder Scale. AD was defined as the presence of mood reactivity and two of four associated features: hyperphagia, hypersomnia, leaden paralysis,

Celeste N. Derecho; Scott Wetzler; Lata K. McGinn; William C. Sanderson; Gregory M. Asnis

1996-01-01

120

Neurophysiological features in relation to clinical signs in clinically diagnosed corticobasal degeneration.  

PubMed

We investigated the association between clinical and neurophysiological characteristics in patients with a clinical diagnosis of probable corticobasal degeneration (CBD), and searched for neurophysiological features supporting the diagnosis in life. Ten patients with clinically probable CBD underwent comprehensive neurological evaluation and brain MRI. Long latency reflexes (LLR), upper limb somatosensory (SEP) and motor evoked (MEP) potentials were recorded. The mini-mental state examination (MMSE), the phonemic verbal fluency test (PVFT) and the De Renzi ideomotor apraxia test were also performed. Polygraphic EEG was performed in the six patients with myoclonus. The SEP N30 frontal component was absent bilaterally in four patients, was absent on the left side in one, and had increased latency in other three. MEPs were abnormal in four patients (three had prolonged central motor conduction time, one of whom also had increased MEP threshold, and one had increased MEP threshold). All six patients with myoclonus had enhanced LLRs at rest, which were also of abnormally increased amplitude during motor activation; latencies were generally shorter than in classic cortical reflex myoclonus. On back-averaging, no EEG spikes time-locked to EMG activity were found in any myoclonus patient. Five patients were demented by MMSE, eight had ideomotor apraxia scores in the ideomotor apraxia range and five had defective verbal fluency. Brain MRI revealed asymmetric cortical atrophy in all patients, particularly evident frontoparietally. Neurophysiological techniques, particularly LLR, can assist CBD diagnosis especially in patients with myoclonus. Patients with evident parkinsonism had greater SEP N30 (frontal) abnormalities, while most patients with marked paresis had slower MEP times. PMID:12754652

Monza, D; Ciano, C; Scaioli, V; Soliveri, P; Carella, F; Avanzini, G; Girotti, F

2003-04-01

121

Atypical MELAS associated with mitochondrial tRNA Lys gene A8296G mutation  

Microsoft Academic Search

We report on a unique patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) presenting optic atrophy, cardiomyopathy, and bilateral striatal necrosis before stoke-like episodes became apparent. Skeletal muscle total mitochondrial DNA analysis identified a heteroplasmic A to G point mutation in the tRNALys gene at position 8296. Skeletal muscle pathology revealed typical MELAS findings, including ragged-red fibers

Ryoichi Sakuta; Shiho Honzawa; Nobuyuki Murakami; Yuichi Goto; Toshiro Nagai

2002-01-01

122

Clinical features and MR imaging in children with repaired myelomeningocele  

Microsoft Academic Search

The aim of the study is to define the role of associated malformations in the clinical evolution of children affected by myelomeningocele. MRI investigation of the spinal cord was carried out on 25 patients between the age of 7.3 and 18.10 with MMC repaired and followed up for at least 7 years. The relation between associated malformations demonstrated by MRI

R. Bono; M. Inverno; G. Botteon; M. G. Bruzzone; M. A. Vaghi; C. L. Solero; E. Perlasca; E. Fedrizzi

1993-01-01

123

Key Clinical Features to Identify Girls with "CDKL5" Mutations  

ERIC Educational Resources Information Center

Mutations in the human X-linked cyclin-dependent kinase-like 5 ("CDKL5") gene have been shown to cause infantile spasms as well as Rett syndrome (RTT)-like phenotype. To date, less than 25 different mutations have been reported. So far, there are still little data on the key clinical diagnosis criteria and on the natural history of…

Bahi-Buisson, Nadia; Nectoux, Juliette; Rosas-Vargas, Haydee; Milh, Mathieu; Boddaert, Nathalie; Girard, Benoit; Cances, Claude; Ville, Dorothee; Afenjar, Alexandra; Rio, Marlene; Heron, Delphine; Morel, Marie Ange N'Guyen; Arzimanoglou, Alexis; Philippe, Christophe; Jonveaux, Philippe; Chelly, Jamel; Bienvenu, Thierry

2008-01-01

124

The ritual abuse of children: clinical features and diagnostic reasoning.  

PubMed

A case of alleged ritual sexual abuse is presented. Clinical recognition and diagnostic reasoning are discussed. After a brief account of modern satanism, it is concluded that, although the evidence for the occurrence of ritual abuse is sketchy, a high index of suspicion is appropriate. PMID:1789821

Nurcombe, B; Unützer, J

1991-03-01

125

Clinical Features: Patients with Cornelia de Lange syndrome (CdLS) [OMIM #122470] have characteristic facial features, growth  

E-print Network

12/12 Clinical Features: Patients with Cornelia de Lange syndrome (CdLS) [OMIM #122470] have de Lange Syndrome #12;12/12 Additional Resources: Corneli CAP #: 18827-49 The University of Chicago Genetic Services Laboratories Genetic Testing for Cornelia

Pritchard, Jonathan

126

Clinical Features: Patients with Cornelia de Lange syndrome (CdLS) [OMIM #122470] have characteristic facial features, growth  

E-print Network

5/10 Clinical Features: Patients with Cornelia de Lange syndrome (CdLS) [OMIM #122470] have for affected individuals and carrier parents is 50% [1]. Additional Resources: Cornelia de Lange Syndrome Laboratories NIPBL and SMC1A analysis for Cornelia de Lange Syndrome #12;5/10 NIPBL mutation analysis

Das, Soma

127

Clinical Features: Patients with Cornelia de Lange syndrome (CdLS) [OMIM #122470] have characteristic facial features, growth  

E-print Network

1/13 Clinical Features: Patients with Cornelia de Lange syndrome (CdLS) [OMIM #122470] have de Lange Syndrome #12;1/13 Additional Resources: Cornelia CAP #: 18827-49 The University of Chicago Genetic Services Laboratories Genetic Testing for Cornelia

Das, Soma

128

Clinical features and multidisciplinary approaches to dementia care  

PubMed Central

Dementia is a clinical syndrome of widespread progressive deterioration of cognitive abilities and normal daily functioning. These cognitive and behavioral impairments pose considerable challenges to individuals with dementia, along with their family members and caregivers. Four primary dementia classifications have been defined according to clinical and research criteria: 1) Alzheimer’s disease; 2) vascular dementias; 3) frontotemporal dementias; and 4) dementia with Lewy bodies/Parkinson’s disease dementia. The cumulative efforts of multidisciplinary healthcare teams have advanced our understanding of dementia beyond basic descriptions, towards a more complete elucidation of risk factors, clinical symptoms, and neuropathological correlates. The characterization of disease subtypes has facilitated targeted management strategies, advanced treatments, and symptomatic care for individuals affected by dementia. This review briefly summarizes the current state of knowledge and directions of dementia research and clinical practice. We provide a description of the risk factors, clinical presentation, and differential diagnosis of dementia. A summary of multidisciplinary team approaches to dementia care is outlined, including management strategies for the treatment of cognitive impairments, functional deficits, and behavioral and psychological symptoms of dementia. The needs of individuals with dementia are extensive, often requiring care beyond traditional bounds of medical practice, including pharmacologic and non-pharmacologic management interventions. Finally, advanced research on the early prodromal phase of dementia is reviewed, with a focus on change-point models, trajectories of cognitive change, and threshold models of pathological burden. Future research goals are outlined, with a call to action for social policy initiatives that promote preventive lifestyle behaviors, and healthcare programs that will support the growing number of individuals affected by dementia. PMID:21655340

Grand, Jacob HG; Caspar, Sienna; MacDonald, Stuart WS

2011-01-01

129

Antioxidant responses and bioaccumulation in Ictalurus melas under mercury exposure.  

PubMed

Laboratory experiment was carried out to determine mercury accumulation in tissues (gills, kidneys, liver, and muscle) and biochemical responses in the liver of freshwater teleost Ictalurus melas. Catfish were subjected to different concentrations of Hg(2+) (35, 70, and 140 microg/L) for 10 days. The chemical analyses showed higher mercury concentrations for all treatments in gills and kidneys followed by liver and muscle. At the lowest mercury concentration a decrease in glutathione (GSH) content and an increase of GSH peroxidase Se-dependent and glyoxalase II enzymes were observed. An increasing trend was observed also for GSH-S-transferase and glyoxalase I, while GSH peroxidase Se-independent enzyme and GSH reductase showed no significant variation in activities. The increase in the enzymes activities of catfish, involved in the inactivation of reactive molecules formed during oxidative stress, could provide an additional protection against the oxidative damage induced by mercury. PMID:12742363

Elia, Antonia Concetta; Galarini, Roberta; Taticchi, Maria Illuminata; Dörr, Ambrosius Josef Martin; Mantilacci, Luciana

2003-06-01

130

Clinical features, treatment and genetic background of Treacher Collins syndrome  

Microsoft Academic Search

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development. The major features of the disease include midface hypoplasia, micrognathia, microtia, conductive hearing loss and cleft palate. Current procedures of surgical treatment of TCS are discussed and novel findings concerning the genetic background of TCS are described. The TCS locus has been mapped to chro- mosome 5q31.3-32. The

Piotr WÓJCICKI; Kazimierz KOBUS

2002-01-01

131

Juvenile neuroaxonal dystrophy: clinical, electrophysiological, and neuropathological features.  

PubMed

We describe 2 brothers with progressive myoclonus epilepsy that began in the second decade and was associated with cerebellar ataxia and intellectual deterioration. Electroencephalographic and cerebral evoked potential studies showed findings associated with myoclonus epilepsy. Neuropathological examination of 1 of the brothers, who died at age 23 years, revealed widespread changes of neuroaxonal dystrophy without pigment deposition in the basal ganglia. We propose the term juvenile neuroaxonal dystrophy (JNAD) to distinguish this condition on clinical grounds from infantile neuroaxonal dystrophy on the one hand, and on clinical and pathological grounds from Hallervorden-Spatz disease on the other hand. JNAD, while exceedinly rare, must be considered in the differential diagnosis of the progressive myoclonus epilepsies. PMID:103487

Dorfman, L J; Pedley, T A; Tharp, B R; Scheithauer, B W

1978-05-01

132

Clinical, Biological, and Imaging Features of Monogenic Alzheimer's Disease  

PubMed Central

The discovery of monogenic forms of Alzheimer's Disease (AD) associated with mutations within PSEN1, PSEN2, and APP genes is giving a big contribution in the understanding of the underpinning mechanisms of this complex disorder. Compared with sporadic form, the phenotype associated with monogenic cases is somewhat broader including behavioural disturbances, epilepsy, myoclonus, and focal presentations. Structural and functional imaging show typical early changes also in presymptomatic monogenic carriers. Amyloid imaging and CSF tau/A? ratio may be useful in the differential diagnosis with other neurodegenerative dementias, especially, in early onset cases. However, to date any specific biomarkers of different monogenic cases have been identified. Thus, in clinical practice, the early identification is often difficult, but the copresence of different elements could help in recognition. This review will focus on the clinical and instrumental markers useful for the very early identification of AD monogenic cases, pivotal in the development, and evaluation of disease-modifying therapy. PMID:24377094

Padovani, Alessandro; Borroni, Barbara

2013-01-01

133

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.  

PubMed

Autosomal dominant cerebellar ataxias are hereditary neurodegenerative disorders that are known as spinocerebellar ataxias (SCA) in genetic nomenclature. In the pregenomic era, ataxias were some of the most poorly understood neurological disorders; the unravelling of their molecular basis enabled precise diagnosis in vivo and explained many clinical phenomena such as anticipation and variable phenotypes even within one family. However, the discovery of many ataxia genes and loci in the past decade threatens to cause more confusion than optimism among clinicians. Therefore, the provision of guidance for genetic testing according to clinical findings and frequencies of SCA subtypes in different ethnic groups is a major challenge. The identification of ataxia genes raises hope that essential pathogenetic mechanisms causing SCA will become more and more apparent. Elucidation of the pathogenesis of SCA hopefully will enable the development of rational therapies for this group of disorders, which currently can only be treated symptomatically. PMID:15099544

Schöls, Ludger; Bauer, Peter; Schmidt, Thorsten; Schulte, Thorsten; Riess, Olaf

2004-05-01

134

Clinical Features: Patients with Robinow syndrome (RS) [OMIM #268310] have characteristic facial features, growth  

E-print Network

mesomelic or acromesomelic limb shortening, hemivertebrae, and brachydactyly. Characteristic facial features (DRS). Rib fusions are not seen in individuals with DRS [1,2]. Patients with brachydactyly, type B1, but may have broadening or partial duplication. BDB1 is the most severe form of brachydactyly. Molecular

Ober, Carole

135

Clinical Features: Patients with Robinow syndrome (RS) [OMIM #268310] have characteristic facial features, growth  

E-print Network

mesomelic or acromesomelic limb shortening, hemivertebrae, and brachydactyly. Characteristic facial features is usually nearer the normal range in DRS [1,2]. Patients with brachydactyly, type B1 (BDB1) [OMIM #113000 or partial duplication. BDB1 is the most severe form of brachydactyly. Molecular Genetics: Autosomal

Ober, Carole

136

Clinical and radiological features of osteonecrosis in systemic lupus erythematosus.  

PubMed Central

Symptomatic osteonecrosis occurred in 8 out of 68 patients with systemic lupus erythematosus. Multiple joints were involved in 3 patients, and weight-bearing joints were most frequently affected. Osteonecrosis tended to occur early in the disease, and the patients had all received corticosteroids. Symptoms tended to occur when the disease had progressed from an active phase into one of clinical and serological quiescence. In weight-bearing joints classical radiological changes were often absent at the onset of symptoms. Images PMID:518140

Griffiths, I D; Maini, R N; Scott, J T

1979-01-01

137

Geographic atrophy: clinical features and potential therapeutic approaches.  

PubMed

In contrast to wet age-related macular degeneration (AMD), where loss of vision is typically acute and treatment leads to a relatively rapid reduction in retinal fluid and subsequent improvements in visual acuity (VA), disease progression and vision loss in geographic atrophy (GA) owing to AMD are gradual processes. Although GA can result in significant visual function deficits in reading, night vision, and dark adaptation, and produce dense, irreversible scotomas in the visual field, the initial decline in VA may be relatively minor if the fovea is spared. Because best-corrected VA does not correlate well with GA lesions or progression, alternative clinical endpoints are being sought. These include reduction in drusen burden, slowing the enlargement rate of GA lesion area, and slowing or eliminating the progression of intermediate to advanced AMD. Among these considerations, slowing the expansion of the GA lesion area seems to be a clinically suitable primary efficacy endpoint. Because GA lesion growth is characterized by loss of photoreceptors, it is considered a surrogate endpoint for vision loss. Detection of GA can be achieved with a number of different imaging techniques, including color fundus photography, fluorescein angiography, fundus autofluorescence (FAF), near-infrared reflectance, and spectral-domain optical coherence tomography. Previous studies have identified predictive characteristics for progression rates including abnormal patterns of FAF in the perilesional retina. Although there is currently no approved or effective treatment to prevent the onset and progression of GA, potential therapies are being evaluated in clinical studies. PMID:24433969

Holz, Frank G; Strauss, Erich C; Schmitz-Valckenberg, Steffen; van Lookeren Campagne, Menno

2014-05-01

138

Multiple sclerosis: clinical features and MRI findings in Northern China  

PubMed Central

Background Reports in Asian populations suggest that ethnic and geographical differences may influence susceptibility to multiple sclerosis (MS) and its clinical behaviors. Here, we sought to retrospectively survey clinical characteristics and MRI data in Chinese subjects with MS. Methods We conducted a retrospective analysis in 117 patients with MS. The patients were divided into subgroups with optic-spinal form of multiple sclerosis (OSMS; n?=?42) and classical multiple sclerosis (CMS; n?=?75). Clinical characteristics, MRI finding and expanded disability status scale (EDSS) score were compared between the two groups. Results In 117 MS patients, 64.1% patients were classified as having CMS and 35.9% OSMS forms. White blood cell counts of OSMS patients were significantly higher than those of CMS patients (P <0.05). The longitudinal fusion lesions of spinal cord on MRI were statistically significant between groups (P <0.05). Spinal cord MRI showed that MS lesions were longer, and revealed spinal cord swelling in patients with CMS, but atrophy in patients with OSMS. The EDSS score at five years was significantly higher in patients with OSMS than in those with CMS (P <0.05). Relapse rates of patients with OSMS were also higher than those of patients with CMS (P <0.01) within one to three years. Conclusions OSMS accounts for a higher proportion of MS populations in Northern China than in Western countries. MRI showed a longitudinally extensive spinal cord lesion in patients with OSMS and spinal cord swelling at onset. PMID:24731721

2014-01-01

139

The clinical profile and pathophysiology of atrial fibrillation: relationships among clinical features, epidemiology, and mechanisms.  

PubMed

Atrial fibrillation (AF) is the most common arrhythmia (estimated lifetime risk, 22%-26%). The aim of this article is to review the clinical epidemiological features of AF and to relate them to underlying mechanisms. Long-established risk factors for AF include aging, male sex, hypertension, valve disease, left ventricular dysfunction, obesity, and alcohol consumption. Emerging risk factors include prehypertension, increased pulse pressure, obstructive sleep apnea, high-level physical training, diastolic dysfunction, predisposing gene variants, hypertrophic cardiomyopathy, and congenital heart disease. Potential risk factors are coronary artery disease, kidney disease, systemic inflammation, pericardial fat, and tobacco use. AF has substantial population health consequences, including impaired quality of life, increased hospitalization rates, stroke occurrence, and increased medical costs. The pathophysiology of AF centers around 4 general types of disturbances that promote ectopic firing and reentrant mechanisms, and include the following: (1) ion channel dysfunction, (2) Ca(2+)-handling abnormalities, (3) structural remodeling, and (4) autonomic neural dysregulation. Aging, hypertension, valve disease, heart failure, myocardial infarction, obesity, smoking, diabetes mellitus, thyroid dysfunction, and endurance exercise training all cause structural remodeling. Heart failure and prior atrial infarction also cause Ca(2+)-handling abnormalities that lead to focal ectopic firing via delayed afterdepolarizations/triggered activity. Neural dysregulation is central to atrial arrhythmogenesis associated with endurance exercise training and occlusive coronary artery disease. Monogenic causes of AF typically promote the arrhythmia via ion channel dysfunction, but the mechanisms of the more common polygenic risk factors are still poorly understood and under intense investigation. Better recognition of the clinical epidemiology of AF, as well as an improved appreciation of the underlying mechanisms, is needed to develop improved methods for AF prevention and management. PMID:24763464

Andrade, Jason; Khairy, Paul; Dobrev, Dobromir; Nattel, Stanley

2014-04-25

140

Clinical features, mechanisms, and management of pseudoprogression in malignant gliomas.  

PubMed

Since the introduction of chemoradiotherapy with temozolomide as the new standard of care for patients with glioblastoma, there has been an increasing awareness of progressive and enhancing lesions on MRI, noted immediately after the end of treatment, which are not related to tumour progression, but which are a treatment effect. This so-called pseudoprogression can occur in up to 20% of patients who have been treated with temozolomide chemoradiotherapy, and can explain about half of all cases of increasing lesions after the end of this treatment. These lesions decrease in size or stabilise without additional treatments and often remain clinically asymptomatic. Additionally, there is evidence that treatment-related necrosis occurs more frequently and earlier after temozolomide chemotherapy than after radiotherapy alone. The mechanisms behind these events have not yet been fully elucidated, but the likelihood is that chemoradiotherapy causes a higher degree of (desired) tumour-cell and endothelial-cell killing. This increased cell kill might lead to secondary reactions, such as oedema and abnormal vessel permeability in the tumour area, mimicking tumour progression, in addition to subsequent early treatment-related necrosis in some patients and milder subacute radiotherapy reactions in others. In patients managed with temozolomide chemoradiotherapy who have clinically asymptomatic progressive lesions at the end of treatment, adjuvant temozolomide should be continued; in clinically symptomatic patients, surgery should be considered. If mainly necrosis is noted during surgery, continuation of adjuvant temozolomide is logical. Trials on the treatment of recurrent malignant glioma should exclude patients with progression within the first 3 months after temozolomide chemoradiotherapy unless histological confirmation of tumour recurrence is available. Further research is needed to establish reliable imaging parameters that distinguish between true tumour progression and pseudoprogression or treatment-related necrosis. PMID:18452856

Brandsma, Dieta; Stalpers, Lukas; Taal, Walter; Sminia, Peter; van den Bent, Martin J

2008-05-01

141

Spectral Identification and Analyses of Hydrous Mineral Deposits: Implications for the Aqueous History of Aram Chaos and Melas Chasma, Mars  

NASA Astrophysics Data System (ADS)

Orbital remote sensing data acquired from the Mars Express OMEGA and MRO CRISM instruments, in conjunction with other datasets, are used to perform detailed spectral and stratigraphic analyses with the goals of better understanding the mineralogy and aqueous history of deposits in Aram Chaos and south and southwest Melas Chasma on Mars. The Discrete Ordinate Radiative Transfer (DISORT) model is used to retrieve atmospherically and thermally corrected Lambert albedos from OMEGA I/F data for Aram Chaos and atmospherically corrected single scattering albedos from CRISM I/F data for Melas Chasma. Spectral analyses focus on detection, identification, and mapping of hydrated and/or hydroxylated alteration minerals in the visible-near to thermal infrared region (0.4-4.0 mum) for Aram Chaos and near infrared region (1.0-2.5 mum) for Melas Chasma. In Aram Chaos, based on detailed reduction of OMEGA spectral data, focusing on use of DISORT-based radiative transfer procedures to model solar reflected and thermally-dominating spectral regions, together with stability and formation pathway considerations, we conclude that the spectral features in Aram Chaos are dominated by the presence of nanophase iron oxides, schwertmannite, and starkeyite. This mineral assemblage, together with gray, crystalline hematite previously detected from TES data [Glotch and Christensen, 2005], indicate that Aram Chaos has experienced iron oxidation and evaporation of iron-, magnesium-, and sulfur-rich fluids during periods of rising groundwater. In the southern wall and nearby floor of Melas Chasma, a sequence of interbedded poly- and monohydrated sulfate layers associated with the interior layered deposits (ILDs) was identified using the data from CRISM and HiRISE imageries. The interbedded layers could have formed by a cyclic deposition of poly- and monohydrated sulfates during evaporation depending on brine salinity and variable water-to-rock ratios. A distinct jarosite-bearing unit was also identified in the topographically higher units near the hydrated sulfate deposits. The study area has apparently been through a period of acidic conditions resulting from an increase of volcanic volatile release or redox processes during episodes of groundwater upwelling, during which jarosite has formed by the evaporation of acid fluids that have altered basaltic materials, or through iron oxidation of subsurface fluids and subsequent precipitation. To the southwest portion of Melas Chasma basin, hydrated sulfates and Fe/Mg smectites were both identified using CRISM hyperspectral data. Specifically the hydrated sulfate and Fe/Mg smectite deposits are interbedded and deposited at the bottom of the stratigraphic column, unconformably overlaid by a thick monohydrated sulfate unit. Geochemical modeling of coupled basalt weathering and fluid evaporation predicts that co-formation of smectites and sulfate evaporites in similar quantities, as observed in the interbedded smectite-sulfate sequence, is chemically plausible. The interbedded hydrated sulfate and Fe/Mg smetite deposits formed by the processes of repeated mechanical transportation of clastics by fluvial events, alteration by upwelling groundwater, and evaporation of the residual fluids.

Liu, Yang

142

Diagnosis and clinical features of epidermolysis bullosa acquisita.  

PubMed

Epidermolysis bullosa acquisita (EBA) is a rare autoimmune subepidermal blistering disease characterized by immune deposits on anchoring fibrils of cutaneous and mucosal basement membrane zones. It is due to circulating antibodies directed to type VII collagen. Clinical manifestations include a classical form with skin fragility, blisters and scars on trauma-prone surfaces, an inflammatory form, and a cicatricial pemphigoid-like form. Specialized tests available in only certain laboratories are necessary to confirm a diagnosis of EBA, such as immunoelectron microscopy, immunoblotting, or ELISA using recombinant proteins. A frequent association between EBA and Crohn disease has been observed. PMID:21605816

Caux, Frédéric

2011-07-01

143

Clinical and epidemiologic features of an epizootic of equine leukoencephalomalacia.  

PubMed

A herd of 15 mature riding horses with a history of anorexia, weight loss, and lethargy was examined. The animals had been fed a 50/50 mixture of commercial sweet feed and corn screenings contaminated with a heavy growth of Fusarium moniliforme. Thirteen of the horses had one or more neurologic signs. The most characteristic signs were profound depression and mild ataxia. Over the 19-day course of the epizootic, the horses had increasing severe neurologic deficits, including unilateral blindness and delirium. Despite the clinical appearance of dehydration, 12 horses had low PCV (16 to 27%), hematocrit (21.2 to 31.0%; determined by automated cell counter), and RBC counts (3.76 to 5.5 x 10(6) RBC/microliters). White blood cell counts were variable (4,900 to 17,000 WBC/microliters). Necropsy findings included diffuse malacia of the white matter of the frontal cortex and severe multifocal perivascular hemorrhage in the white matter of the temporal cortex, basal ganglia, anterior medulla, and pons. One horse had a hepatic lesion consisting of a mixed inflammatory cell infiltrate and bile duct proliferation. The attack rate of this epizootic was 100%. The course of disease was unusually long in some animals. In an experiment, the fusarium-infected corn screenings were fed to horses and did not cause clinical signs or alterations in blood or serum biochemical values. PMID:1995569

Uhlinger, C

1991-01-01

144

Clinical features of spinal and bulbar muscular atrophy  

PubMed Central

Spinal and bulbar muscular atrophy is an X-linked motor neuron disease caused by a CAG repeat expansion in the androgen receptor gene. To characterize the natural history and define outcome measures for clinical trials, we assessed the clinical history, laboratory findings and muscle strength and function in 57 patients with genetically confirmed disease. We also administered self-assessment questionnaires for activities of daily living, quality of life and erectile function. We found an average delay of over 5 years from onset of weakness to diagnosis. Muscle strength and function correlated directly with serum testosterone levels and inversely with CAG repeat length, age and duration of weakness. Motor unit number estimation was decreased by about half compared to healthy controls. Sensory nerve action potentials were reduced in nearly all subjects. Quantitative muscle assessment and timed 2 min walk may be useful as meaningful indicators of disease status. The direct correlation of testosterone levels with muscle strength indicates that androgens may have a positive effect on muscle function in spinal and bulbar muscular atrophy patients, in addition to the toxic effects described in animal models. PMID:19846582

Rhodes, Lindsay E.; Freeman, Brandi K.; Auh, Sungyoung; Kokkinis, Angela D.; La Pean, Alison; Chen, Cheunju; Lehky, Tanya J.; Shrader, Joseph A.; Levy, Ellen W.; Harris-Love, Michael; Di Prospero, Nicholas A.

2009-01-01

145

Clinical features, treatment and genetic background of Treacher Collins syndrome.  

PubMed

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development. The major features of the disease include midface hypoplasia, micrognathia, microtia, conductive hearing loss and cleft palate. Current procedures of surgical treatment of TCS are discussed and novel findings concerning the genetic background of TCS are described. The TCS locus has been mapped to chromosome 5q31.3-32. The TCOF1 gene contains 26 exons and encodes a 1411 amino acid protein named treacle. In the TCOF1 gene 51 mutations have been identified. Most of these mutations are insertions or deletions, which result in an introduction of a premature termination codon into the reading frame. Mutational spectra support the hypothesis that TCS results from haploinsufficiency of treacle. PMID:12080178

Marsza?ek, Bozena; Wójcicki, Piotr; Kobus, Kazimierz; Trzeciak, Wies?aw H

2002-01-01

146

Olfactory discrimination of complex mixtures of amino acids by the black bullhead Ameiurus melas.  

PubMed

On the basis of previous findings of behavioural discrimination of amino acids and on the knowledge of electrophysiology of the catfish (genera Ictalurus and Ameiurus) olfactory organs, behavioural experiments that investigated olfactory discrimination of amino acid mixtures were carried out on the black bullhead Ameiurus melas. Repeated presentations of food-rewarded mixtures released increased swimming activity measured by counting the number of turns >90° within 90 s of stimulus addition. Non-rewarded amino acids and their mixtures released little swimming activity, indicating that A. melas discriminated between the conditioned and the non-conditioned stimuli. Two questions of mixture discrimination were addressed: (1) Are A. melas able to detect components within simple and complex amino acid mixtures? (2) What are the smallest differences between two complex mixtures that A. melas can detect? Three and 13 component mixtures tested were composed primarily of equipotent amino acids [determined by equal electroolfactogram (EOG) amplitude] that contained L-Cys at ×100 the equipotent concentration. Ameiurus melas initially perceived the ternary amino acid mixture as its more stimulatory component alone [i.e. cysteine (Cys)], whereas the conditioned 13 component mixture containing the more stimulatory L-Cys was perceived immediately as different from L-Cys alone. The results indicate that components of ternary mixtures are detectable by A. melas but not those of more complex mixtures. To test for the smallest detectable differences in composition between similar multimixtures, all mixture components were equipotent. Initially, A. melas were unable to discriminate the mixtures of six amino acids from the conditioned mixtures of seven amino acids, whereas they discriminated immediately the mixtures of four and five amino acids from the conditioned mixture. Experience with dissimilar mixtures enabled the A. melas to start discriminating the seven-component conditioned mixture from its six-component counterparts. After fewer than five training trials, A. melas discriminated the mixtures of nine and 10 amino acids from a conditioned mixture of 12 equipotent amino acids; however, irrespective of the number of training trials, A. melas were unable to discriminate the 12 component mixture from its 11 component counterparts. PMID:21722109

Valentincic, T; Miklavc, P; Kralj, S; Zgonik, V

2011-07-01

147

Recognizing clinical entities in hospital discharge summaries using Structural Support Vector Machines with word representation features  

PubMed Central

Background Named entity recognition (NER) is an important task in clinical natural language processing (NLP) research. Machine learning (ML) based NER methods have shown good performance in recognizing entities in clinical text. Algorithms and features are two important factors that largely affect the performance of ML-based NER systems. Conditional Random Fields (CRFs), a sequential labelling algorithm, and Support Vector Machines (SVMs), which is based on large margin theory, are two typical machine learning algorithms that have been widely applied to clinical NER tasks. For features, syntactic and semantic information of context words has often been used in clinical NER systems. However, Structural Support Vector Machines (SSVMs), an algorithm that combines the advantages of both CRFs and SVMs, and word representation features, which contain word-level back-off information over large unlabelled corpus by unsupervised algorithms, have not been extensively investigated for clinical text processing. Therefore, the primary goal of this study is to evaluate the use of SSVMs and word representation features in clinical NER tasks. Methods In this study, we developed SSVMs-based NER systems to recognize clinical entities in hospital discharge summaries, using the data set from the concept extration task in the 2010 i2b2 NLP challenge. We compared the performance of CRFs and SSVMs-based NER classifiers with the same feature sets. Furthermore, we extracted two different types of word representation features (clustering-based representation features and distributional representation features) and integrated them with the SSVMs-based clinical NER system. We then reported the performance of SSVM-based NER systems with different types of word representation features. Results and discussion Using the same training (N = 27,837) and test (N = 45,009) sets in the challenge, our evaluation showed that the SSVMs-based NER systems achieved better performance than the CRFs-based systems for clinical entity recognition, when same features were used. Both types of word representation features (clustering-based and distributional representations) improved the performance of ML-based NER systems. By combining two different types of word representation features together with SSVMs, our system achieved a highest F-measure of 85.82%, which outperformed the best system reported in the challenge by 0.6%. Our results show that SSVMs is a great potential algorithm for clinical NLP research, and both types of unsupervised word representation features are beneficial to clinical NER tasks. PMID:23566040

2013-01-01

148

[Diagnosis and clinical features of hemolytic uremic syndrome].  

PubMed

The hemolytic-uremic syndrome (HUS) is an acute disorder, characterized by the triad of microangiopathic hemolytic anemia, nephropathy and thrombocytopenia. The great majority of patients are children, usually under 4 years of age, although adults can be affected. The onset is abrupt and usually follows gastroenteritis or upper respiratory infection. Later, clinical manifestations based on the triad, such as pallor, jaundice, edema, hypertension and purpura soon develop. The urinary output is reduced and the urine may appear dark yellow or tea-colored. Laboratory tests of peripheral blood show severe hemolytic anemia associated with fragmented red blood cells and thrombocytopenia, usually below 50,000/microliters. The blood urea nitrogen, serum creatinine and lactate dehydrogenase concentrations are elevated. Proteinuria and microscopic hematuria, which are indicative of active glomerular damage are also seen. Profound understanding of these manifestations is sufficient to permit an early diagnosis of HUS. PMID:8433521

Nakajima, M; Yoshioka, A

1993-01-01

149

Clinical Features of Idiopathic Juxtafoveal Telangiectasis in Koreans  

PubMed Central

Purpose To describe the clinical characteristics of idiopathic juxtafoveal telangiectasis (IJT) in Koreans. Methods Medical records of 16 patients with IJT were analyzed during the period from 1997 to 2009. Diagnosis was based on biomicrosopic and fluorescein angiographic findings and the group was determined according to the Gass and Blodi classification. Results We analyzed eight patients in group 1A (50%), two in group 1B (12.5%), and six in group 2A (37.5%). Diverse treatment modalities, such as macular laser photocoagulation, photodynamic therapy, intravitreal antiangiogenic agent, and steroid injection, were applied for macular edema in nine eyes; however, only two eyes showed visual improvement. Conclusions In this case series, group 1A was the most common. For macular edema related to IJT, current treatment strategies had no consistent effect. PMID:21860567

Lee, Seung Woo; Kim, Sung Min; Kim, Yun Taek

2011-01-01

150

Anatomical features and clinical relevance of a persistent trigeminal artery  

PubMed Central

Background: Although persistent trigeminal artery (PTA) is uncommonly identified, knowledge of this structure is essential for clinicians who interpret cranial imaging, perform invasive studies of the cerebral vasculature, and operate this region. Methods: A review of the medical literature using standard search engines was performed to locate articles regarding the PTA, with special attention with anatomical descriptions. Results: Although anatomical reports of PTA anatomy are very scarce, those were analyzed to describe in detail the current knowledge about its anatomical relationships and variants. Additionally, the embryology, classification, clinical implications, and imaging modalities of this vessel are extensively discussed. Conclusions: Through a comprehensive review of isolated reports of the PTA, the clinician can better understand and treat patients with such an anatomical derailment. PMID:23087827

Alcala-Cerra, Gabriel; Tubbs, R S; Nino-Hernandez, Lucia M

2012-01-01

151

Clinical Features of Young Children Referred for Impairing Temper Outbursts  

PubMed Central

Abstract Objective In light of the current controversy about whether severe temper outbursts are diagnostic of mania in young children, we conducted a study to characterize such children, focusing on mania and other mood disorders, emotion regulation, and parental psychiatric history. Methods Study participants included 51 5–9-year-old children with frequent, impairing outbursts (probands) and 24 non-referred controls without outbursts. Parents completed a lifetime clinical interview about their child, and rated their child's current mood and behavior. Teachers completed a behavior rating scale. To assess emotion regulation, children were administered the Balloons Game, which assesses emotion expressivity in response to frustration, under demands of high and low regulation. Parental lifetime diagnoses were ascertained in blind clinical interviews. Results No child had bipolar disorder, bipolar disorder not otherwise specified (NOS), or major depression (MDD). The most prevalent disorder was oppositional defiant disorder (88.2%), followed by attention-deficit/hyperactivity disorder (74.5%), anxiety disorders (49.0%), and non-MDD depressive disorders (33.3%). Eleven probands (21.6%) met criteria for severe mood dysregulation. During the Balloons Game, when there were no demands for self-regulation, children with severe outbursts showed reduced positive expressivity, and also showed significant deficits in controlling negative facial expressions when asked to do so. Anxiety disorders were the only diagnoses significantly elevated in probands' mothers. Conclusions Overall, young children with severe temper outbursts do not present with bipolar disorder. Rather, disruptive behavior disorders with anxiety and depressive mood are common. In children with severe outbursts, deficits in regulating emotional facial expressions may reflect deficits controlling negative affect. This work represents a first step towards elucidating mechanisms underlying severe outbursts in young children. PMID:24168713

Klein, Rachel G.; Angelosante, Aleta; Bar-Haim, Yair; Leibenluft, Ellen; Hulvershorn, Leslie; Dixon, Erica; Dodds, Alice; Spindel, Carrie

2013-01-01

152

[Denial of pregnancy and neonaticide: psychopathological and clinical features].  

PubMed

Pregnancy denial and neonaticide have recently received media coverage following a series of French cases of neonatal killing. Although it has been known for a long time that some women deny their pregnancy and may kill their newborns, there is still no consensus on the etiopathogenic factors involved in the denial of pregnancy occurrence. Even though neonaticide is often committed by young, poor, unmarried women with little or no prenatal care, it appears that denial of pregnancy is a heterogeneous condition associated with different psychological features. Societies are ambivalent with regard to mothers who killed their children and tend to lay the entire blame on them. Furthermore, there is a widespread lack of understanding among the public on these affairs, when birth control techniques and methods are widely available. The purpose of this article is to describe the different types of pregnancy denial and neonaticide and to review the still debated etiopathogenic hypotheses. The absence of the physical changes of pregnancy at the time of the denial such as cessation of menstruation, abdominal swelling or perception of foetal movements is also discussed. PMID:22939654

Seigneurie, A-S; Limosin, F

2012-11-01

153

Distinctive clinical and histologic features in cutaneous melanoma with copy number gains in 8q24.  

PubMed

Cutaneous melanoma may be quite heterogeneous in its clinical, histologic, and molecular features. Yet, the current classification of melanoma is limited to 4 main subtypes on the basis of clinical and histopathologic features and has shown limited impact on clinical management including prognostication and treatment. Advances in our understanding of the driving molecular pathways in melanoma and the importance of the mitogen-activated protein kinase pathway have shown that specific activating mutations in oncogenes may correlate with characteristic clinical and histologic features. We evaluated 40 melanoma cases with gains in MYC at 8q24, and we show that their characteristic features include aggressive clinical course, occurrence in nonchronically sun-damaged skin, amelanotic clinical and histopathologic appearance, a nodular or primary dermal growth pattern by histology, frequent epidermal consumption, and infrequent association with a precursor nevus. The v-raf murine sarcoma viral oncogene homolog B1 (BRAF) and neuroblastoma RAS viral oncogene homolog (NRAS) mutation status was also determined. The presence of these mutations was comparable to frequencies previously reported from nonchronically sun-damaged skin. However, the BRAF mutant cases did not show histopathologic features considered characteristic of BRAF mutant melanoma. Considering these distinct clinical and histopathologic features and the possible role as a theragnostic tool, it may be of value to consider 8q24 status in cutaneous melanoma in addition to the mutation status of BRAF in future studies integrating molecular findings into the classification system for cutaneous melanoma. PMID:22020039

Pouryazdanparast, Pedram; Cowen, D Patrick; Beilfuss, Beth Ann; Haghighat, Zahra; Guitart, Joan; Rademaker, Alfred; Gerami, Pedram

2012-02-01

154

Clinical features and management of pseudoaneurysmal bleeding after pancreatoduodenectomy.  

PubMed

A ruptured pseudoaneurysm is the most serious and life-threatening cause of postpancreatoduodenectomy (PD) hemorrhages. We have evaluated the clinical course and management of pseudoaneurysms after PD. Of 586 patients who underwent PD for periampullary tumors in Asan Medical Center between March 2003 and March 2011, 27 experienced pseudoaneurysmal bleeding. Bleeding developed at a median of 21 days (range, 8 to 45 days) after surgery, including 9 patients who developed bleeding more than 4 weeks after surgery. Before development of bleeding, 26 patients showed pancreatic fistula. Bleeding was developed from the gastroduodenal artery stump in 12 patients, the common hepatic artery in eight, the proper hepatic artery in five, and the left hepatic artery in two. Of the angiographic group, 21 patients underwent with microcoil embolization, four underwent stent insertion, and one experienced technical failure. Only one patient required emergent laparotomy without angiography. Of 25 patients with angiographic procedures, all patients achieved hemostasis. The mortality rate was 22.2 per cent (6 patients). Delayed hemorrhage after PD is closely associated with pancreatic fistula and carried a significantly higher mortality rate. The patients with pancreatic fistula should be carefully monitored, even more than 4 weeks after surgery. Selective microcoil embolization or stent graft is effective for pseudoaneurysmal bleeding. PMID:22524769

Lee, Jae Hoon; Hwang, Dae Wook; Lee, Sang Yeup; Hwang, Ji Woong; Song, Dae Keun; Gwon, Dong Il; Shin, Ji Hoon; Ko, Gi-Young; Park, Kwang-Min; Lee, Young-Joo

2012-03-01

155

Diffuse idiopathic skeletal hyperostosis: clinical features and pathogenic mechanisms.  

PubMed

Diffuse idiopathic skeletal hyperostosis (DISH) is a systemic condition characterized by the ossification and calcification of ligaments and entheses. DISH is observed on all continents and in all races, but most commonly in men over 50 years of age. Although DISH is asymptomatic in most individuals, the condition is often an indicator of underlying metabolic disease, and the presence of spinal or extraspinal ossifications can sometimes lead to symptoms including pain, stiffness, a reduced range of articular motion, and dysphagia, as well as increasing the risk of unstable spinal fractures. The aetiology of DISH is poorly understood, and the roles of the many factors that might be involved in the development of excess bone are not well delineated. The study of pathophysiological aspects of DISH is made difficult by the formal diagnosis requiring the presence of multiple contiguous fully formed bridging ossifications, which probably represent advanced stages of DISH. In this Review, the reader is provided with an up-to-date discussion of the epidemiological, aetiological and clinical aspects of DISH. Existing classification criteria (which, in the absence of diagnostic criteria, are used to establish a diagnosis of DISH) are also considered, together with the need for modified criteria that enable timely identification of early phases in the development of DISH. PMID:24189840

Mader, Reuven; Verlaan, Jorrit-Jan; Buskila, Dan

2013-12-01

156

Nemaline myopathy type 6: clinical and myopathological features  

PubMed Central

Introduction Nemaline myopathy (NEM) is one of the most common congenital myopathies. A unique subtype, NEM6, maps to chromosome 15q21-q23 in two pedigrees, but the causative gene has not been determined. Methods We conducted clinical examination and myopathological studies in a new NEM family. Genotyping and gene screening were accomplished by searching known and 18 new candidate genes. Results The disease started in childhood by affecting proximal and distal muscles and causing slowness of movements. Muscle biopsies show numerous nemaline rods and core-like formations. Suggestive linkage to chromosome 15q22-q23 was established. Genes known to be mutated in NEM or core-rod myopathy were screened and excluded. No pathogenic mutations were identified in other candidate genes. Discussion The disease in this Spanish family is classified as NEM6. It is phenotypically similar and probably allelic to the two previously reported NEM6 pedigrees. Further studies of these families will lead to the identification of the NEM6 gene. PMID:21104864

Olive, Montse; Goldfarb, Lev G; Lee, Hee-Suk; Odgerel, Zagaa; Blokhin, Andre; Gonzalez-Mera, Laura; Moreno, Dolores; Laing, Nigel G; Sambuughin, Nyamkhishig

2010-01-01

157

Actinomycosis: etiology, clinical features, diagnosis, treatment, and management  

PubMed Central

Actinomycosis is a rare chronic disease caused by Actinomyces spp., anaerobic Gram-positive bacteria that normally colonize the human mouth and digestive and genital tracts. Physicians must be aware of typical clinical presentations (such as cervicofacial actinomycosis following dental focus of infection, pelvic actinomycosis in women with an intrauterine device, and pulmonary actinomycosis in smokers with poor dental hygiene), but also that actinomycosis may mimic the malignancy process in various anatomical sites. Bacterial cultures and pathology are the cornerstone of diagnosis, but particular conditions are required in order to get the correct diagnosis. Prolonged bacterial cultures in anaerobic conditions are necessary to identify the bacterium and typical microscopic findings include necrosis with yellowish sulfur granules and filamentous Gram-positive fungal-like pathogens. Patients with actinomycosis require prolonged (6- to 12-month) high doses (to facilitate the drug penetration in abscess and in infected tissues) of penicillin G or amoxicillin, but the duration of antimicrobial therapy could probably be shortened to 3 months in patients in whom optimal surgical resection of infected tissues has been performed. Preventive measures, such as reduction of alcohol abuse and improvement of dental hygiene, may limit occurrence of pulmonary, cervicofacial, and central nervous system actinomycosis. In women, intrauterine devices must be changed every 5 years in order to limit the occurrence of pelvic actinomycosis. PMID:25045274

Valour, Florent; Senechal, Agathe; Dupieux, Celine; Karsenty, Judith; Lustig, Sebastien; Breton, Pierre; Gleizal, Arnaud; Boussel, Loic; Laurent, Frederic; Braun, Evelyne; Chidiac, Christian; Ader, Florence; Ferry, Tristan

2014-01-01

158

Ocular toxoplasmosis II: clinical features, pathology and management  

PubMed Central

The term, ocular toxoplasmosis, refers to eye disease related to infection with the parasite, Toxoplasma gondii. Recurrent posterior uveitis is the typical form of this disease, characterized by unilateral, necrotizing retinitis with secondary choroiditis, occurring adjacent to a pigmented retinochoroidal scar and associated with retinal vasculitis and vitritis. Multiple atypical presentations are also described, and severe inflammation is observed in immunocompromised patients. Histopathological correlations demonstrate focal coagulative retinal necrosis, and early in the course of the disease, this inflammation is based in the inner retina. For typical ocular toxoplasmosis, a diagnosis is easily made on clinical examination. In atypical cases, ocular fluid testing to detect parasite DNA by polymerase chain reaction or to determine intraocular production of specific antibody may be extremely helpful for establishing aetiology. Given the high seroprevalence of toxoplasmosis in most communities, serological testing for T. gondii antibodies is generally not useful. Despite a lack of published evidence for effectiveness of current therapies, most ophthalmologists elect to treat patients with ocular toxoplasmosis that reduces or threatens to impact vision. Classic therapy consists of oral pyrimethamine and sulfadiazine, plus systemic corticosteroid. Substantial toxicity of this drug combination has spurred interest in alternative antimicrobials, as well as local forms of drug delivery. At this time, however, no therapeutic approach is curative of ocular toxoplasmosis. PMID:22712598

Butler, Nicholas J; Furtado, Joao M; Winthrop, Kevin L; Smith, Justine R

2014-01-01

159

Systematic review of clinical features of suspected colorectal cancer in primary care  

PubMed Central

Abstract Objective To systematically review the diagnostic accuracy of clinical features associated with colorectal cancer (CRC) presenting in primary care. Data sources MEDLINE and EMBASE were searched for studies in primary care that provided information on clinical features predictive of CRC. Positive predictive values were used to guide the determination of clinical features associated with increased risk of CRC. Study selection Systematic reviews or primary studies that provided possible clinical features predictive of CRC were included. Synthesis Clinical features of patients presenting in primary care that are associated with increased risk of CRC, listed in descending order of association, included palpable rectal or abdominal mass; rectal bleeding combined with weight loss; iron deficiency anemia; rectal bleeding mixed with stool; rectal bleeding in the absence of perianal symptoms; rectal bleeding combined with change in bowel habits; dark rectal bleeding; rectal bleeding and diarrhea; and change in bowel habits. Being male and increasing age were also, in general, associated with increased risk of CRC. Conclusion Recognition of clinical features associated with increased risk of CRC by FPs might help with earlier identification and referral among patients presenting in primary care. This review might help inform providers and CRC diagnostic assessment programs about indications for assessment and further investigation. PMID:25122831

Del Giudice, M. Elisabeth; Vella, Emily T.; Hey, Amanda; Simunovic, Marko; Harris, William; Levitt, Cheryl

2014-01-01

160

MELAS phenotype associated with m.3302A>G mutation in mitochondrial tRNA(Leu(UUR)) gene.  

PubMed

The m.3302A>G mutation in the mitochondrial tRNA(Leu(UUR)) gene has been identified in only 12 patients from 6 families, all manifesting adult-onset slowly progressive myopathy with minor central nervous system involvement. An 11-year-old boy presented with progressive proximal-dominant muscle weakness from age 7years. At age 10, he developed recurrent stroke-like episodes. Mitochondrial myopathy, encephalopathy, lactic acidosis, plus stroke-like episodes (MELAS) was diagnosed by clinical symptoms and muscle biopsy findings. Mitochondrial gene analysis revealed a heteroplasmic m.3302A>G mutation. Histological examination showed strongly SDH reactive blood vessels (SSVs), not present in previous cases with myopathies due to the m.3302A>G mutation. These findings broaden the phenotypic spectrum of this mutation. PMID:23582502

Goto, Masahide; Komaki, Hirofumi; Saito, Takashi; Saito, Yoshiaki; Nakagawa, Eiji; Sugai, Kenji; Sasaki, Masayuki; Nishino, Ichizo; Goto, Yu-Ichi

2014-02-01

161

Precocious puberty in two girls with PEHO syndrome: a clinical feature not previously described.  

PubMed

The authors present 2 girls with progressive encephalopathy, hypsarrhythmia, and optic atrophy syndrome. They describe a novel finding, precocious puberty, a feature not previously reported in this syndrome. The authors also present their clinical features and the results of investigations, including radiological findings, and compare the patients of this report to previously reported cases. PMID:21596701

Alfadhel, Majid; Yong, Siu Li; Lillquist, Yolanda; Langlois, Sylvie

2011-07-01

162

Benign paroxysmal positional vertigo (BPPV). Clinical features in 34 cases and review of literature.  

PubMed

The clinical features of benign paroxysmal positional vertigo are analysed in 34 patients. These features are detectable by careful examination and are explained by an abnormal stimulation of a posterior semicircular canal of the labyrinth. Cupulolithiasis could be the mechanism which makes this cupula gravity-sensitive. PMID:3389075

Bourgeois, P M; Dehaene, I

1988-01-01

163

Evaluation of Objective Features for Classification of Clinical Depression in Speech by Genetic Programming  

Microsoft Academic Search

This paper presents the results of applying a Genetic Programming (GP) based feature selection algorithm to find a small set\\u000a of highly discriminating features for the detection of clinical depression from a patient’s speech. While the performance\\u000a of the GP-based classifiers was not as good as hoped for, several Bayesian classifiers were trained using the features found\\u000a via GP and

Juan Torres; Ashraf Saad; Elliot Moore

164

Fluent versus nonfluent primary progressive aphasia: A comparison of clinical and functional neuroimaging features  

Microsoft Academic Search

To better characterize fluent and nonfluent variants of primary progressive aphasia (PPA). Although investigators have recognized both fluent and nonfluent patients with PPA (Mesulam, 2001), the clinical and neuroimaging features of these variants have not been fully defined. We present clinical and neuropsychological data on 47 PPA patients comparing the fluent (n=21) and nonfluent (n=26) subjects. We further compared language

David Glenn Clark; Anthony Charuvastra; Bruce L. Miller; Jill S. Shapira; Mario F. Mendez

2005-01-01

165

Clinical-Epidemiological Features of 13 Cases of Melioidosis in Brazil  

PubMed Central

The aim of this work was to catalog the clinical and ecoepidemiological characteristics of melioidosis in Brazil. The clinical-epidemiological features of melioidosis in Ceará are similar to those in other regions where the disease is endemic. These findings support the inclusion of this Brazilian state as part of the zone of endemicity for melioidosis. PMID:22814457

Bandeira, Tereza J. P. G.; Cordeiro, Rossana A.; Grangeiro, Thalles B.; Lima, Rita A. C.; Ribeiro, Joyce F.; Castelo-Branco, Debora S. C. M.; Rodrigues, Jorge L. N.; Coelho, Ivo C. B.; Magalhaes, Francisco G.; Rocha, Marcos F. G.; Sidrim, Jose J. C.

2012-01-01

166

Clinical features and risk factors for mortality in Aeromonas bacteremic adults with hematologic malignancies  

Microsoft Academic Search

Background and Purpose: Aeromonas spp. often cause infections in immunocompromised patients. To specifically understand the clinical features of Aeromonas bacteremic adults with hematologic malignancies, we investigated the demographic, clinical and microbiologic characteristics of Aeromonas bacteremia in this patient population. Methods: Retrospective study performed in a tertiary medical center in southern Taiwan, in which adults with hematologic malignancies suffered from Aeromonas

Moan-Shane Tsai; Ching-Yuan Kuo; Ming-Chung Wang; Hong-Cheng Wu; Chun-Chih Chien; Jien-Wei Liu

167

CLINICAL FEATURES OF COMMUNITY-ACQUIRED PNEUMONIA TREATED AT SRINAGARIND HOSPITAL, KHON KAEN, THAILAND  

Microsoft Academic Search

Pneumonia is a serious illness associated with significant morbidity and mortality. The interpretation guidelines for pneumonia management requires knowledge of both the clinical presentation of the disease and local epidemiology. We studied the clinical features, initial laboratory results, antibiotic sensitivities, and outcomes of patients diagnosed with acute com- munity-acquired pneumonia between January 1999 and December 2000 at Srinagarind Hospital. The

Wipa Reechaipichitkul; Puntip Tantiwong

168

Giant Perimedullary Arteriovenous Fistulas of the Spine: Clinical and Radiologic Features and Endovascular Treatment  

Microsoft Academic Search

PURPOSE: To present the clinical and radiologic features of giant perimedullary arteriovenous fistulas (GAVFs) in 12 consecutive cases and to evaluate the results of endovascular treatment. METHODS: We retrospectively reviewed the clinical and radiologic data as well as the results of balloon endovascular treatment obtained from 1980 to 1989. RESULTS: GAVFs, defined as large intradural perimedullary direct arteriovenous high-flow shunts,

F. Ricolfi; P. Y. Gobin; A. Aymard; F. Brunelle; A. Gaston; J. J. Merland

169

Morphological variability of black bullhead Ameiurus melas in four non-native European populations.  

PubMed

External morphology in black bullhead Ameiurus melas, a fish species considered to have high invasive potential, was studied in its four non-native European populations (British, French, Italian and Slovak). The aim of this study was to examine this species' variability in external morphology, including ontogenetic context, and to evaluate its invasive potential. Specimens from all non-native populations reached smaller body size compared to individuals from native populations. Juvenile A. melas were found to have a relatively uniform body shape regardless of the population's origin, whereas adults developed different phenotypes depending upon location. Specimens from the U.K., Slovak and French populations appeared to be rather similar to each other, whereas the Italian population showed the most distant phenotype. This probably results from the different thermal regime in the Italian habitat. Ameiurus melas from non-native European populations examined in this study showed some potential to alter the body shape both within and between populations. The phenotypic plasticity of A. melas, however, was not found to be as significant as in other invasive fish species. The results suggest that morphological variability itself is not necessarily essential for invasive success. The invasiveness of A. melas is therefore probably favoured by variations in its life-history traits and reproduction variables, together with some behavioural traits (e.g. voracious feeding and parental care) rather than by phenotypic plasticity expressed in external morphology. PMID:23557294

Novomeská, A; Katina, S; Copp, G H; Pedicillo, G; Lorenzoni, M; Pompei, L; Cucherousset, J; Ková?, V

2013-04-01

170

Analysis of Clinical Features of Williams-Beuren Syndrome Referred for Molecular Cytogenetic Study  

Microsoft Academic Search

Objective: Williams-Beuren syndrome (WBS) is a contiguous gene deletion disorder in which the commonly deleted region en- compasses about 1.5~2.0 Mb of DNA at 7q11.23. Clinical features of WBS change with age and vary between patients. We at- tempted to establish useful indicators for clinical recognition of WBS in infancy and childhood. Materials and Methods: We analyzed the clinical characteristics

Chiou-Nan Shiue; Yen-Yin Chou; Louise Chuang; Wen-Hui Tsai; Shang-Chun Tsai; Jing-Ming Wu; Pao-Ling Kuo

171

Clinical Approach to Parkinson's Disease: Features, Diagnosis, and Principles of Management  

PubMed Central

Parkinson's disease (PD) is one of the most common neurodegenerative disorders. The condition causes a heavy burden both on those affected, as well as their families. Accurate diagnosis is critical and remains founded on clinical grounds as no specific diagnostic test is available so far. The clinical picture of PD is typical in many instances; however, features distinguishing it from other disorders should be thoroughly sought. Monogenic forms of PD also have some distinctive characteristics in many cases. This text is a roadmap to accurate diagnosis in PD, as it approaches clinical features, diagnostic methodology, and leading differential diagnoses. Therapeutic issues are also briefly discussed. PMID:22675666

Massano, João; Bhatia, Kailash P.

2012-01-01

172

Epidemiology, etiology, x-ray features, importance of co-infections and clinical features of viral pneumonia in developing countries.  

PubMed

Pneumonia is still the number one killer of young children globally, accounting for 18% of mortality in children under 5 years of age. An estimated 120 million new cases of pneumonia occur globally each year. In developing countries, management and prevention efforts against pneumonia have traditionally focused on bacterial pathogens. More recently however, viral pathogens have gained attention as a result of improved diagnostic methods, such as polymerase chain reaction, outbreaks of severe disease caused by emerging pathogens, discovery of new respiratory viruses as well as the decrease in bacterial pneumonia as a consequence of the introduction of highly effective conjugate vaccines. Although the epidemiology, etiology and clinical characterization of viral infections are being studied extensively in the developed world, little data are available from low- and middle-income countries. In this paper, we review the epidemiology, etiology, clinical and radiological features of viral pneumonia in developing countries. PMID:24410617

Lanaspa, Miguel; Annamalay, Alicia A; LeSouëf, Peter; Bassat, Quique

2014-01-01

173

Cognitive Impairment and Dementia in Parkinson's Disease: Clinical Features, Diagnosis, and Management  

PubMed Central

Parkinson’s disease (PD) is a common, disabling, neurodegenerative disorder. In addition to classical motor symptoms, non-motor features are now widely accepted as part of the clinical picture, and cognitive decline is a very important aspect of the disease, as it brings an additional significant burden for the patient and caregivers. The diagnosis of cognitive decline in PD, namely mild cognitive impairment (MCI) and dementia, can be extremely challenging, remaining largely based on clinical and cognitive assessments. Diagnostic criteria and methods for PD dementia and MCI have been recently issued by expert work groups. This manuscript has synthesized relevant data in order to obtain a pragmatic and updated review regarding cognitive decline in PD, from milder stages to dementia. This text will summarize clinical features, diagnostic methodology, and therapeutic issues of clinical decline in PD. Relevant clinical genetic issues, including recent advances, will also be approached. PMID:22654785

Meireles, Joana; Massano, Joao

2012-01-01

174

Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation.  

PubMed

We report the case of a 23-year-old Italian female harboring the rare m.3291T>C mutation in the MT-TL1 gene, that encodes the mitochondrial transfer RNA for leucine 1 (UUA/G). MT-TL1 mutations usually cause the MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) syndrome. Our patient, however, suffered from a non-syndromic mitochondrial disorder (MID), clinically characterized by progressive cognitive and behavioral decline, and hearing loss; brain MRI disclosed diffuse supratentorial and infratentorial atrophy; EKG revealed a Wolff-Parkinson-White syndrome; combined neuroleptic and antidepressant treatment markedly improved her behavioral symptoms. This case expands the clinical spectrum of non-syndromic MIDs, and further confirms that no obvious genotype-phenotype correlation exists for the m.3291T>C DNA mutation; indeed, this mutation has been previously reported in a Japanese child, who suffered from MELAS, and in an Italian child, who presented an apparently isolated mild myopathy. Moreover, it supports the hypothesis that at least in MT-TL1-related MIDs, dementia may be caused by a progressive neurodegenerative process, rather than by injury accumulation due to stroke-like episodes. Finally, our case suggests that common neuroleptic and antidepressant drugs may be clinically efficacious in the management of psychiatric symptoms associated with MIDs. PMID:20943236

Salsano, Ettore; Giovagnoli, Anna Rita; Morandi, Lucia; Maccagnano, Carmelo; Lamantea, Eleonora; Marchesi, Chiara; Zeviani, Massimo; Pareyson, Davide

2011-01-15

175

Genital chlamydial infection: association between clinical features, organism genotype and load.  

PubMed

The association between the clinical features of genital chlamydial infection and organism genotype and load was evaluated. Chlamydial DNA was detected and quantified in genital swabs from 233 (7?%) of 3384 consecutive patients attending a genitourinary medicine clinic. The chlamydia-positive subcohort comprised 132 (57?%) females and 101 (43?%) males. Clinical features were present in 33?% women and 72?% men. The chlamydial load was found to be higher in women (median load: 5.6 log) than men (median load: 3.5 log). Single variable analysis failed to show a significant association between chlamydial load and clinical features (P value = 0.3). Owing to the limited amount of clinical material, information on chlamydial genotypes was available for 70?% (n?=?162) of chlamydia-positive patients. However, multivariable analysis of these samples did show a significant association between chlamydial load and clinical features (P value = 0.02). This discrepancy is most probably due to the difference in the amount of data analysed by single variable (data from 233 patients) and multivariable (data from 162 patients) analysis. The distribution of chlamydia genotypes was as follows: type E (46?%), F (22?%), D (8?%), K (8?%), G (7?%), J (4?%), I (1?%) and H (0.6?%). No statistically significant association was observed between chlamydial genotype and clinical features in either single variable (P value = 0.6) or multivariable (P value = 0.4) analysis. These findings suggest that chlamydial load and diversity in the ompA gene plays little, if any, role in the pathogenesis of genital chlamydial infection. PMID:21415209

Jalal, Hamid; Verlander, Neville Q; Kumar, Navin; Bentley, Neil; Carne, Christopher; Sonnex, Christopher

2011-07-01

176

Ocular findings in atopic dermatitis with special reference to the clinical features of atopic cataract.  

PubMed

44 patients with atopic dermatitis who had had active generalized skin lesions, especially of the face, following transient remission after eczema in infancy were examined ophthalmologically. Their ocular findings have been correlated with the clinical features of atopic dermatitis. 25% of the patients with this clinical course had cataracts. However, the clinical features of the patients without cataracts were almost the same as those of the patients with. Thus, cataracts in patients with atopic dermatitis may not be due to the clinical symptoms and course but to other factors such as genetic, as in the case of asthma. Lenticular opacities were present in the posterior subcapsule in 50%, in the anterior subcapsule in 25% and throughout the lens in 12.5%. 2 patients with total lens opacities had shown rapid progression at the time of exacerbation of the skin lesions. Chronic conjunctivitis was found in 31.8%, superficial keratitis in 6.8% and retinal detachment in 2%. PMID:7454225

Amemiya, T; Matsuda, H; Uehara, M

1980-01-01

177

Clinical Significance of Histological Features of Thrombi in Patients with Myocardial Infarction  

PubMed Central

Background Percutaneous Coronary Intervention (PCI) is the most common strategy for the treatment of Acute ST segment elevation Myocardial Infarction (STEMI), and thromboaspiration has been increasingly utilized for removal of occlusive thrombi. Objectives To analyze the influence of histopathological features of coronary thrombi in clinical outcomes of patients with STEMI, and the association of these variables with clinical, angiographic, and laboratory features and medications used in hospitalization. Methods Prospective cohort study. All patients were monitored during hospitalization and thirty days after the event. Aspirated thrombi were preserved in formalin and subsequently stained with hematoxylin-eosin and embedded in paraffin. Thrombi were classified as recent and old. The primary outcome was the occurrence of major cardiovascular events within thirty days. Results During the study period, 1,149 patients were evaluated with STEMI, and 331 patients underwent thrombi aspiration, leaving 199 patients available for analysis. It was identified recent thrombi in 116 patients (58%) and old thrombi in 83 patients (42%). Recent thrombi have greater infiltration of red blood cells than old thrombi (p = 0.02), but there were no statistically significant differences between other clinical, angiographic, laboratory, and histopathological features and medications in both group of patients. The rates of clinical outcomes were similar in both groups. Conclusions Recent thrombi were identified in 58% of patients with STEMI and it was observed an association with infiltration of red blood cells. There was no association between histopathological features of thrombi and clinical variables and cardiovascular outcomes. PMID:24162472

Sebben, Juliana Canedo; Cambruzzi, Eduardo; Avena, Luisa Martins; Gazeta, Cristina do Amaral; Gottschall, Carlos Antonio Mascia; de Quadros, Alexandre Schaan

2013-01-01

178

Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease  

PubMed Central

BACKGROUND AND PURPOSE MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) is a mitochondrial disease most usually caused by point mutations in tRNA genes encoded by mitochondrial DNA (mtDNA). Approximately 80% of cases of MELAS syndrome are associated with a m.3243A > G mutation in the MT-TL1 gene, which encodes the mitochondrial tRNALeu (UUR). Currently, no effective treatments are available for this chronic progressive disorder. Treatment strategies in MELAS and other mitochondrial diseases consist of several drugs that diminish the deleterious effects of the abnormal respiratory chain function, reduce the presence of toxic agents or correct deficiencies in essential cofactors. EXPERIMENTAL APPROACH We evaluated the effectiveness of some common pharmacological agents that have been utilized in the treatment of MELAS, in yeast, fibroblast and cybrid models of the disease. The yeast model harbouring the A14G mutation in the mitochondrial tRNALeu(UUR) gene, which is equivalent to the A3243G mutation in humans, was used in the initial screening. Next, the most effective drugs that were able to rescue the respiratory deficiency in MELAS yeast mutants were tested in fibroblasts and cybrid models of MELAS disease. KEY RESULTS According to our results, supplementation with riboflavin or coenzyme Q10 effectively reversed the respiratory defect in MELAS yeast and improved the pathologic alterations in MELAS fibroblast and cybrid cell models. CONCLUSIONS AND IMPLICATIONS Our results indicate that cell models have great potential for screening and validating the effects of novel drug candidates for MELAS treatment and presumably also for other diseases with mitochondrial impairment. PMID:22747838

Garrido-Maraver, Juan; Cordero, Mario D; Monino, Irene Dominguez; Pereira-Arenas, Sheila; Lechuga-Vieco, Ana V; Cotan, David; De la Mata, Mario; Oropesa-Avila, Manuel; De Miguel, Manuel; Bautista Lorite, Juan; Rivas Infante, Eloy; Alvarez-Dolado, Manuel; Navas, Placido; Jackson, Sandra; Francisci, Silvia; Sanchez-Alcazar, Jose A

2012-01-01

179

Impact of black bullhead ( Ameiurus melas ) on turbidity in a diked wetland  

Microsoft Academic Search

Benthivorous fish in shallow, aquatic systems have been correlated with increased turbidity and declines in macrophyte production and wildlife use. Bullheads have been credited with increasing turbidity, but this has been seldom tested and has not been studied in a diked marsh. To assess the relationships of black bullhead (Ameiurus melas) and turbidity, we assembled mesocosmsin the Show Pool Management

Eugene C. Braig; David L. Johnson

2003-01-01

180

Surficial Geologic Surveys of Gale Crater and Melas Chasma, Mars: Integration of Remote-Sensing Data  

Microsoft Academic Search

Remote-sensing observations of Gale Crater and Melas Chasma are synthesized to better understand the present surface layer in these two scientifically interesting regions. Data sets analyzed include geologic maps, Mars Orbiter Laser Altimeter (MOLA) elevation, Thermal Emission Spectrometer (TES) albedo, TES thermal inertia, MOLA residual pulse width, TES rock abundance, and Viking and Mars Orbiter Camera images. Using these data

Shannon M. Pelkey; Bruce M. Jakosky

2002-01-01

181

Mitochondrial DNA Sequence Variation in North Atlantic Long-Finned Pilot Whales, Globicephala melas.  

National Technical Information Service (NTIS)

I sequenced mitochondrial DNA (mtDNA) from 39 long-finned pilot whales (Globicephala melas) that stranded on the coasts of Cape Cod, Newfoundland, Nova Scotia, Scotland, and England or were caught by commercial fisheries operating in the western North Atl...

L. A. Siemann

1994-01-01

182

Synergistic combination of clinical and imaging features predicts abnormal imaging patterns of pulmonary infections  

PubMed Central

We designed and tested a novel hybrid statistical model that accepts radiologic image features and clinical variables, and integrates this information in order to automatically predict abnormalities in chest computed-tomography (CT) scans and identify potentially important infectious disease biomarkers. In 200 patients, 160 with various pulmonary infections and 40 healthy controls, we extracted 34 clinical variables from laboratory tests and 25 textural features from CT images. From the CT scans, pleural effusion (PE), linear opacity (or thickening) (LT), tree-in-bud (TIB), pulmonary nodules, ground glass opacity (GGO), and consolidation abnormality patterns were analyzed and predicted through clinical, textural (imaging), or combined attributes. The presence and severity of each abnormality pattern was validated by visual analysis of the CT scans. The proposed biomarker identification system included two important steps: (i) a coarse identification of an abnormal imaging pattern by adaptively selected features (AmRMR), and (ii) a fine selection of the most important features from the previous step, and assigning them as biomarkers, depending on the prediction accuracy. Selected biomarkers were used to classify normal and abnormal patterns by using a boosted decision tree (BDT) classifier. For all abnormal imaging patterns, an average prediction accuracy of 76.15% was obtained. Experimental results demonstrated that our proposed biomarker identification approach is promising and may advance the data processing in clinical pulmonary infection research and diagnostic techniques. PMID:23930819

Bagci, Ulas; Jaster-Miller, Kirsten; Olivier, Kenneth N.; Yao, Jianhua; Mollura, Daniel J.

2013-01-01

183

Clinical Features: Patients with CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects  

E-print Network

1/08 Clinical Features: Patients with CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform of other organs, including the brain, lungs, heart or kidneys, on the same side as the skin defects may identified in patients with CHILD syndrome [2]. This protein functions in the cholesterol biosynthetic

Das, Soma

184

Clinical Features: Patients with Infantile Neuroaxonal Dystrophy (INAD) [OMIM #256600] have infantile onset of progressive  

E-print Network

1/08 Clinical Features: Patients with Infantile Neuroaxonal Dystrophy (INAD) [OMIM #256600] have Laboratories PLA2G6 analysis for Infantile Neuroaxonal Dystrophy #12;1/08 Results You will be informed Genet, 38(7):752-754. 3. Khateeb, S., et al. "PLA2G6 mutation underlies infantile neuroaxonal dystrophy

Das, Soma

185

Clinical Features: Patients with Infantile Neuroaxonal Dystrophy (INAD) [OMIM #256600] have infantile onset of progressive  

E-print Network

6/11 Clinical Features: Patients with Infantile Neuroaxonal Dystrophy (INAD) [OMIM #256600] have for Infantile Neuroaxonal Dystrophy #12;6/11 Testing for a known mutation in additional family members infantile onset of progressive neurodegeneration characterized by hypotonia, spasticity, hyperreflexia

Gilad, Yoav

186

Clinical Features: Patients with Infantile Neuroaxonal Dystrophy (INAD) [OMIM #256600] have infantile onset of progressive  

E-print Network

1/13 Clinical Features: Patients with Infantile Neuroaxonal Dystrophy (INAD) [OMIM #256600] have Neuroaxonal Dystrophy #12;1/13 Testing for a known mutation in additional family members by sequence analysis infantile onset of progressive neurodegeneration characterized by hypotonia, spasticity, hyperreflexia

Ober, Carole

187

Diverticulitis of the cecum and right colon: Clinical and radiographic features  

Microsoft Academic Search

Eighteen cases of cecal and right colon diverticulitis have been presented. The clinical features, radiologic aspects, and modes of treatment have been emphasized. This series does not support the common concept that most diverticula of the cecum are solitary. The application of careful and repeated barium enema studies and detailed pathologic studies of specimens is urged to elucidate further the

Adolfo Schapira; Julius J. Leichtling; Bernard S. Wolf; Richard H. Marshak; Henry D. Janowitz

1958-01-01

188

Incidence, Clinical Features and Subtypes of Delirium in Elderly Patients Treated for Hip Fractures  

Microsoft Academic Search

Objective: To describe the incidence, risk factors and clinical features (subtypes) of delirium during the postoperative period after hip fracture surgery in elderly patients. Design: Prospective study. Methods: Thirty-four consecutive patients (9 men and 25 women) were included in this study between June 16 to July 14, 2003. All patients underwent surgery for a fractured neck of femur and were

Franklin Santana Santos; Lars Olof Wahlund; Ferid Varli; Irineu Tadeu Velasco; Maria Eriksdotter Jönhagen

2005-01-01

189

Clinical Features Microcephaly-Capillary Malformation syndrome [MICCAP, OMIM#614261] is characterized by severe progressive  

E-print Network

4/13 Clinical Features Microcephaly-Capillary Malformation syndrome [MICCAP, OMIM#614261] is characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay Analysis for Microcephaly-Capillary Malformation Syndrome #12;4/13 References: 1. Carter MT, Geraghty MT

Das, Soma

190

Modified Logistic Regression Models Using Gene Coexpression and Clinical Features to Predict Prostate Cancer Progression  

PubMed Central

Predicting disease progression is one of the most challenging problems in prostate cancer research. Adding gene expression data to prediction models that are based on clinical features has been proposed to improve accuracy. In the current study, we applied a logistic regression (LR) model combining clinical features and gene co-expression data to improve the accuracy of the prediction of prostate cancer progression. The top-scoring pair (TSP) method was used to select genes for the model. The proposed models not only preserved the basic properties of the TSP algorithm but also incorporated the clinical features into the prognostic models. Based on the statistical inference with the iterative cross validation, we demonstrated that prediction LR models that included genes selected by the TSP method provided better predictions of prostate cancer progression than those using clinical variables only and/or those that included genes selected by the one-gene-at-a-time approach. Thus, we conclude that TSP selection is a useful tool for feature (and/or gene) selection to use in prognostic models and our model also provides an alternative for predicting prostate cancer progression. PMID:24367394

Zhao, Hongya; Logothetis, Christopher J.; Gorlov, Ivan P.; Zeng, Jia; Dai, Jianguo

2013-01-01

191

Clinical Features Associated with Early Hospital Arrival after Acute Intracerebral Hemorrhage: Challenges for New Trials  

Microsoft Academic Search

Background: Early hospital admission followed by correct diagnosis with minimum delay is a prerequisite for successful new interventions in acute intracerebral hemorrhage (ICH). The aim of this study was to evaluate clinical features associated with early hospital arrival in ICH patients and their influence on the outcome. Methods: Data from all patients arriving within 24 h of the ICH onset

Raul Alberto Valiente; Maramélia Araújo de Miranda-Alves; Gisele Sampaio Silva; Daniela Laranja Gomes; Sonia Maria Dozzi Brucki; Maria Sheila Guimarães Rocha; Ayrton Roberto Massaro

2008-01-01

192

Modified logistic regression models using gene coexpression and clinical features to predict prostate cancer progression.  

PubMed

Predicting disease progression is one of the most challenging problems in prostate cancer research. Adding gene expression data to prediction models that are based on clinical features has been proposed to improve accuracy. In the current study, we applied a logistic regression (LR) model combining clinical features and gene co-expression data to improve the accuracy of the prediction of prostate cancer progression. The top-scoring pair (TSP) method was used to select genes for the model. The proposed models not only preserved the basic properties of the TSP algorithm but also incorporated the clinical features into the prognostic models. Based on the statistical inference with the iterative cross validation, we demonstrated that prediction LR models that included genes selected by the TSP method provided better predictions of prostate cancer progression than those using clinical variables only and/or those that included genes selected by the one-gene-at-a-time approach. Thus, we conclude that TSP selection is a useful tool for feature (and/or gene) selection to use in prognostic models and our model also provides an alternative for predicting prostate cancer progression. PMID:24367394

Zhao, Hongya; Logothetis, Christopher J; Gorlov, Ivan P; Zeng, Jia; Dai, Jianguo

2013-01-01

193

Dominant and recessive polycystic kidney disease in children: evaluation of clinical features and laboratory data  

Microsoft Academic Search

The clinical features and laboratory data of 93 children with polycystic kidney disease were analysed. Family studies showed that the disease was dominant (DPKD) in 17 and recessive (RPKD) in 32 of them. Of the remaining 44 sporadic patients, 1 was classified by histological and\\/or imaging findings as having DPKD, 41 as having RPKD and 2 could not be classified.

H. Kääriäinen; O. Koskimies; R. Norio

1988-01-01

194

Q fever: epidemiology, clinical features and prognosis. A study from 1983 to 1999 in the South of Spain  

Microsoft Academic Search

Objectives. Clinical polymorphism is a main feature of Q fever and, depending upon the geographic location, differences in its clinical picture have been described. The objective of this study was to determine the epidemiology, clinical features and prognosis of acute Q fever in our area.Methods. From 1985 to 1999, consecutive cases of Q fever, presented as febrile syndrome and attended

Ar??stides de Alarcón; Jose Luis Villanueva; Pompeyo Viciana; Luis López-Cortés; Rafael Torronteras; Máximo Bernabeu; Elisa Cordero; Jerónimo Pachón

2003-01-01

195

Cauda equina syndrome as the initial presenting clinical feature of medulloblastoma: a case report  

PubMed Central

Introduction Medulloblastoma is one of the most common pediatric brain malignancies. The usual presenting clinical features are related to posterior fossa syndrome or/and hydrocephalus. Cauda equina syndrome is a very rare presentation for this disease. Case presentation We describe the case of a three-year-old boy with cauda equina syndrome as the initial presenting clinical feature for medulloblastoma. He was initially diagnosed as having a spinal tumor by magnetic resonance imaging scan. Subsequently, a cranial magnetic resonance imaging scan revealed a posterior fossa tumor with features of dissemination. He had substantial improvement after treatment. This case report is complemented by a literature review related to this unusual presentation. Conclusions Medulloblastoma primarily presenting with cauda equina syndrome is very rare. However, spinal drop metastasis should be considered in the pediatric age group to avoid suboptimal management. PMID:22620685

2012-01-01

196

Clinical findings and imaging features of 67 nasopharyngeal carcinoma patients with postradiation nasopharyngeal necrosis  

PubMed Central

Postradiation nasopharyngeal necrosis is an important late effect of radiotherapy that affects prognosis in patients with nasopharyngeal carcinoma. In the present study, we reviewed the clinical and imaging features of 67 patients with pathologically diagnosed postradiation nasopharyngeal necrosis who were treated at Sun Yat-sen University Cancer Center between June 2006 and January 2010. Their clinical manifestations, endoscopic findings, and imaging features were analyzed. Early nasopharyngeal necrosis was limited to a local site in the nasopharyngeal region, and the tissue defect was not obvious, whereas deep parapharyngeal ulcer or signs of osteoradionecrosis in the basilar region was observed in serious cases. Those with osteoradionecrosis and/or exposed carotid artery had a high mortality. In conclusion, Postradiation nasopharyngeal necrosis has characteristic magnetic resonance imaging appearances, which associate well with clinical findings, but pathologic examination is essential to make the diagnosis. PMID:23816556

Chen, Ming-Yuan; Mai, Hai-Qiang; Sun, Rui; Guo, Xiang; Zhao, Chong; Hong, Ming-Huang; Hua, Yi-Jun

2013-01-01

197

Clinical findings and imaging features of 67 nasopharyngeal carcinoma patients with postradiation nasopharyngeal necrosis.  

PubMed

Postradiation nasopharyngeal necrosis is an important late effect of radiotherapy that affects prognosis in patients with nasopharyngeal carcinoma. In the present study, we reviewed the clinical and imaging features of 67 patients with pathologically diagnosed postradiation nasopharyngeal necrosis who were treated at Sun Yat-sen University Cancer Center between June 2006 and January 2010. Their clinical manifestations, endoscopic findings, and imaging features were analyzed. Early nasopharyngeal necrosis was limited to a local site in the nasopharyngeal region, and the tissue defect was not obvious, whereas deep parapharyngeal ulcer or signs of osteoradionecrosis in the basilar region was observed in serious cases. Those with osteoradionecrosis and/or exposed carotid artery had a high mortality. In conclusion, Postradiation nasopharyngeal necrosis has characteristic magnetic resonance imaging appearances, which associate well with clinical findings, but pathologic examination is essential to make the diagnosis. PMID:23816556

Chen, Ming-Yuan; Mai, Hai-Qiang; Sun, Rui; Guo, Xiang; Zhao, Chong; Hong, Ming-Huang; Hua, Yi-Jun

2013-10-01

198

Magnetic resonance imaging features of Great Danes with and without clinical signs of cervical spondylomyelopathy  

PubMed Central

Objective To characterize and compare the MRI morphological features of the cervical vertebral column of Great Danes with and without clinical signs of cervical spondylomyelopathy (CSM). Design Prospective cohort study. Animals 30 Great Danes (15 clinically normal and 15 CSM-affected). Procedures All dogs underwent MRI of the cervical vertebral column (C2–3 through T1–2). Features evaluated included sites of subarachnoid space compression, spinal cord compression, or both; degree, cause, and direction of compression; MRI signal changes of the spinal cord; articular process (facet) joint characteristics; internal vertebral venous plexus visibility; and presence of extradural synovial cysts as well as presence and degree of intervertebral disk degeneration and foraminal stenosis. Results Clinically normal and CSM-affected dogs had 11 and 61 compressive sites, respectively, detected with MRI. All CSM-affected dogs had ? 1 site of spinal cord compression. No signal changes were observed in spinal cords of normal dogs, whereas 14 sites of hyperintensity were found in 9 CSM-affected dogs. Foraminal stenosis was present in 11 clinically normal and all CSM-affected dogs. The number of stenotic foraminal sites was significantly greater in the CSM-affected group, and severe stenosis appeared to be more common in this group than in the clinically normal group. Significant differences were identified between clinically normal and CSM-affected dogs with regard to amount of synovial fluid evident, regularity of articular surfaces, degree of articular process joint proliferation, and internal vertebral venous plexus visibility. Conclusions and Clinical Relevance Abnormalities were detected with MRI in several clinically normal Great Danes. Severe spinal cord compression, number of stenotic foraminal sites, and signal changes within the spinal cord distinguished CSM-affected from clinically normal Great Danes. PMID:25075822

Martin-Vaquero, Paula; da Costa, Ronaldo C.

2014-01-01

199

Melanocytic nevi with special features: clinical-dermoscopic and reflectance confocal microscopic-findings.  

PubMed

Histopathology is considered the 'gold' standard for the diagnosis and classification of melanocytic nevi, but the widespread use of in vivo diagnostic technologies such as dermoscopy and reflectance confocal microscopy (RCM), has enriched profoundly the knowledge regarding the morphological variability in nevi. This is because most morphological observations made via these in vivo tools are closely correlated with features seen in histopathology. Dermoscopy has allowed for a more detailed classification of nevi. As such, dermoscopy identifies four main morphologic groups (i.e. globular, reticular, starburst and structureless blue nevi), one group of nevi located at special body sites (i.e. face, acral, nail) and one group of nevi with special features. This latter category consists of nevi of the former categories, which are typified by peculiar clinical-histopathological findings. They can be subdivided into 'melanoma simulators' including combined nevi, recurrent nevi and sclerosing nevus with pseudomelanomatous features, 'targetoid' nevi (i.e. halo, cockade, irritated targetoid haemosiderotic and eczematous nevus) and uncommon histopathological variants such as desmoplastic, white dysplastic or ballon cell nevus. While the dermoscopic and RCM patterns of the former categories have been studied in detail, little is currently known about the clinical morphology of the heterogeneous group of 'special' nevi. In this article, we describe the clinical, dermoscopic and RCM features of 'special' nevi and review the current literature on this group of melanocytic proliferations. PMID:24171788

Larre Borges, A; Zalaudek, I; Longo, C; Dufrechou, L; Argenziano, G; Lallas, A; Piana, S; Moscarella, E

2014-07-01

200

Recurrent Wernicke's Encephalopathy in a 16-Year-Old Girl with Atypical Clinical and Radiological Features  

PubMed Central

Background. Wernicke's Encephalopathy (WE) is a clinical diagnosis with serious neurological consequences. Its occurrence is underestimated in nonalcoholics and is uncommon in adolescents. We aim to draw the attention to a rare case, which had additional clinical and radiological features. Case. A 16-year-old girl presented with three-week history of vomiting secondary to intestinal obstruction. She developed diplopia soon after hospitalization. Neurological evaluation revealed restriction of bilateral lateral recti with horizontal nystagmus, and bilateral limb dysmetria. Brain MRI was normal. She had prompt improvement to thiamine. Four months later, she presented with headache, bilateral severe deafness, and tinnitus. Clinically, she had severe sensorineural hearing loss, bilateral lateral recti paresis, and gait ataxia. CT head showed bilateral caudate nucleus hypodensities. MRI brain revealed gadolinium enhancement of mamillary bodies and vermis. She had significant improvement after IV thiamine. Headache completely resolved while the ocular movements, hearing, and tinnitus improved partially in 72 hours. Conclusions. Recurrent WE in adolescence is uncommon. Headache, tinnitus, and deafness are rare clinical features. Although MRI study shows typical features of WE, the presence of bilateral caudate nuclei hypodensities on CT scan is uncommon. Prompt treatment with thiamine is warranted in suspected cases to prevent permanent neurological sequelae. PMID:24790762

Lamdhade, S.; Almulla, A.; Alroughani, R.

2014-01-01

201

Computational Phenotype Discovery Using Unsupervised Feature Learning over Noisy, Sparse, and Irregular Clinical Data  

PubMed Central

Inferring precise phenotypic patterns from population-scale clinical data is a core computational task in the development of precision, personalized medicine. The traditional approach uses supervised learning, in which an expert designates which patterns to look for (by specifying the learning task and the class labels), and where to look for them (by specifying the input variables). While appropriate for individual tasks, this approach scales poorly and misses the patterns that we don’t think to look for. Unsupervised feature learning overcomes these limitations by identifying patterns (or features) that collectively form a compact and expressive representation of the source data, with no need for expert input or labeled examples. Its rising popularity is driven by new deep learning methods, which have produced high-profile successes on difficult standardized problems of object recognition in images. Here we introduce its use for phenotype discovery in clinical data. This use is challenging because the largest source of clinical data – Electronic Medical Records – typically contains noisy, sparse, and irregularly timed observations, rendering them poor substrates for deep learning methods. Our approach couples dirty clinical data to deep learning architecture via longitudinal probability densities inferred using Gaussian process regression. From episodic, longitudinal sequences of serum uric acid measurements in 4368 individuals we produced continuous phenotypic features that suggest multiple population subtypes, and that accurately distinguished (0.97 AUC) the uric-acid signatures of gout vs. acute leukemia despite not being optimized for the task. The unsupervised features were as accurate as gold-standard features engineered by an expert with complete knowledge of the domain, the classification task, and the class labels. Our findings demonstrate the potential for achieving computational phenotype discovery at population scale. We expect such data-driven phenotypes to expose unknown disease variants and subtypes and to provide rich targets for genetic association studies. PMID:23826094

Lasko, Thomas A.; Denny, Joshua C.; Levy, Mia A.

2013-01-01

202

Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA  

PubMed Central

Purpose Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. Only a few MPS IVA cases have been reported in the Korean literature; there is a paucity of research about clinical or radiologic findings for this disorder. Therefore, we studied clinical findings, radiological features, and genetic data of Korean MPS IVA patients for determining factors that may allow early diagnosis and that may thus improve the patients' quality of life. Method MPS IVA was confirmed via assay for enzymatic activity of leukocytes in 10 patients. The GALNS gene was analyzed. Patients' charts were retrospectively reviewed for obtaining clinical features and evaluated for radiological skeletal surveys, echocardiography, pulmonary function test, and ophthalmologic test results. Result Nine patients had severe clinical phenotype, and 1 had an intermediate phenotype, on the basis of clinical phenotype criteria. Radiologic findings indicated skeletal abnormalities in all patients, especially in the hips and extremities. Eight patients had an odontoid hypoplasia, and 1 showed mild atlantoaxial subluxation and cord myelopathy. Genetic analysis indicated 10 different GALNS mutations. Two mutations, c.451C>A and c.1000C>T, account for 37.5% (6/16) and 25% (4/16) of all mutations in this samples, respectively. Conclusion An understanding of the clinical and radiological features involved in MPS IVA may allow early diagnosis of MPS IVA. Adequate evaluations and therapy in the early stages may improve the quality of life of patients suffering from skeletal abnormalities and may reduce life-threatening effects of atlantoaxial subluxation. PMID:23227063

Lee, Na Hee; Cho, Sung Yoon; Maeng, Se Hyun; Jeon, Tae Yeon; Sohn, Young Bae; Kim, Su Jin; Park, Hyung-Doo

2012-01-01

203

Correlation of clinical and molecular features in spinal bulbar muscular atrophy  

PubMed Central

Objectives: To characterize the clinical and genetic features of spinal bulbar muscular atrophy (SBMA), a rare neurodegenerative disorder caused by the expansion of a CAG repeat in the first exon of the androgen receptor gene, in the United Kingdom. Methods: We created a national register for SBMA in the United Kingdom and recruited 61 patients between 2005 and 2013. In our cross-sectional study, we assessed, by direct questioning, impairment of activities of daily living (ADL) milestones, functional rating, and subjective disease impact, and performed correlations with both CAG repeat size and degree of somatic mosaicism. Ten patients were deceased, 46 patients participated in the study, and 5 declined. Results: Subjects had an average age at onset of 43.4 years, and weakness onset most frequently occurred in the lower limbs (87%). Impaired mobility was the most frequently reported problem by patients, followed by bulbar dysfunction. Age distribution of the impairment of ADL milestones showed remarkable overlap with a Japanese study. We have identified a significant correlation between the number of CAG repeats and both age at onset and ADL milestones. Somatic mosaicism also showed a correlation with CAG expansion size and age at onset. Conclusions: Clinical features in SBMA show a substantial overlap when comparing populations with different genetic backgrounds. This finding has major implications, because multicenter trials will be necessary to obtain sufficient power in future clinical trials. Clinical-genetic correlations are strong in SBMA and should inform any clinical research strategy in this condition. PMID:24814851

Nirmalananthan, Niranjanan; Masset, Luc; Skorupinska, Iwona; Collins, Toby; Cortese, Andrea; Pemble, Sally; Malaspina, Andrea; Fisher, Elizabeth M.C.; Greensmith, Linda; Hanna, Michael G.

2014-01-01

204

Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation  

Microsoft Academic Search

PURPOSE: To report ocular findings in the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) in a family with the A to G 3243 mitochondrial (mt) DNA point mutation.METHODS: Case reports. Ocular findings are described from four family members with the MELAS associated A to G 3243 mt DNA point mutation.RESULTS: Findings included ophthalmoplegia, neurosensory deafness, reduction of photopic

Paul Latkany; Thomas A. Ciulla; Paul Cucchillo; Marc D. Malkoff

1999-01-01

205

[Chlamydial infection of the central nervous system. Laboratory diagnosis and clinic and morphological features].  

PubMed

The paper presents data on the diagnosis, clinical and pathomorphological changes in the central nervous system (CNS) in neurochlamydiasis according to clinical, autoptic, and experimental evidence. It discusses the possible implication of Ch. trachomatis, Ch. pneumoniae, and Ch. psittaci in the development and course of different diseases with CNS involvement: atherosclerosis, vasculitis, multiple sclerosis, Alzheimer's disease, schizophrenia, autism, vegetative state, sequels of perinatal lesions in childhood and adolescence, HIV infection, etc. Considerable attention is paid to the specific features of diagnosis of Chlamydia-induced CNS lesions. Purposeful pathomorphological investigations are shown to be needed. PMID:24745195

Va?nshenker, Iu I; Nuralova, I V; Onishenko, L S

2014-01-01

206

Aelurostrongylus abstrusus in a feline colony from central Italy: clinical features, diagnostic procedures and molecular characterization  

Microsoft Academic Search

Clinical features and conventional and molecular diagnostic procedures have been investigated and evaluated for the infection\\u000a caused by the lungworm Aelurostrongylus abstrusus (Nematoda, Strongylida). Individual fecal samples from all cats living in a colony with suspected lungworm infection underwent\\u000a coprological flotation with sugar and zinc sulfate solution and the Baermann migration method. Also, pharyngeal swabs collected\\u000a for each animal were

Donato Traversa; Angela Di Cesare; Piermarino Milillo; Raffaella Iorio; Domenico Otranto

2008-01-01

207

Gastric Polyps: A Review of Clinical, Endoscopic, and Histopathologic Features and Management Decisions  

PubMed Central

The increasing use of endoscopy has led to more discernable abnormalities in the stomach, including polyps. Gastric polyps encompass a spectrum of pathologic conditions that can vary in histology, neoplastic potential, and management. Despite their high prevalence, there is a paucity of literature to support management and treatment decisions for endoscopists. The goal of this review is to summarize clinical, endoscopic, and histopathologic features of various polyps, review syndromes associated with such polyps, and provide management recommendations. PMID:24764778

Islam, Rafiul Sameer; Patel, Neal C.; Lam-Himlin, Dora

2013-01-01

208

Churg-Strauss syndrome: clinical and serological features of 19 patients from a single Italian centre  

Microsoft Academic Search

Objective. Churg-Strauss syndrome is a rare multisystem vasculitis of unknown aetiology. Due to the rarity of the disease, few single-centre case series have been described. The aim of this study was to evaluate a small series from a single Italian centre in order to describe the clinical features of the disease, the treatment and long-term follow-up. Methods. Nineteen Churg-Strauss syndrome

A. Della Rossa; C. Baldini; A. Tavoni; A. Tognetti; D. Neglia; G. Sambuceti; R. Puccini; C. Colangelo; S. Bombardieri

2002-01-01

209

Hypocalcemia in a paediatric case: from the clinical features to diagnosis.  

PubMed

Abstract Pseudohypoparathyroidism refers to end-organ resistance that primarily impairs the renal actions of parathyroid hormone (PTH), a key regulator of calcium homeostasis. Its diagnosis is complex because of the multiple variants of this entity, and more so because intravenous PTH is not available for the Ellsworth-Howard test. We report a symptomatic paediatric case of hypocalcaemia, the clinical features of which, and the course after treatment, suggest that it is most probably a case of pseudohypoparathyroidism type Ib. PMID:23934640

Gómez, José Luis; Momblán, Jerónimo Javier; Ibáñez, María Mercedes; Pérez, María José; Garzón, María Isabel; Martínez, Gema; Alcalde, Mercedes

2014-01-01

210

The Clinical and Adaptive Features of Young Offenders with Histories of Child-Parent Violence  

Microsoft Academic Search

This study compared the clinical and adaptive features of juvenile offenders (N?=?223) who were violent towards their parents (CPV) with those who had no history of violence against their parents (NCPV).\\u000a These two groups were also examined on demographic data, arrest findings, mental health issues, relationship findings, intellectual\\u000a abilities, and school performance. Youths in the CPV group were more likely

Tom D. Kennedy; William A. Edmonds; Karen T. J. Dann; Kent F. Burnett

2010-01-01

211

Anaphylaxis in referred pediatric patients: demographic and clinical features, triggers, and therapeutic approach  

Microsoft Academic Search

Anaphylaxis remains under-diagnosed and under-treated. A better knowledge of patterns and triggers of anaphylaxis might contribute\\u000a to a better management. In this study we evaluated the demographic and clinical features of anaphylaxis in pediatric patients,\\u000a as well as its triggers and therapeutic approach. From May 1st 2004 until April 30th 2006 we prospectively collected data\\u000a on all patients referred for

Liliane F. A. De Swert; Dominique Bullens; Marc Raes; Anna-Maria Dermaux

2008-01-01

212

Clinical features and treatment strategies of Epstein–Barr virus-associated hemophagocytic lymphohistiocytosis  

Microsoft Academic Search

Epstein–Barr virus (EBV) is the major triggering factor producing hemophagocytic syndrome or hemophagocytic lymphohistiocytosis (HLH). In this review, diagnostic problems, clinical and histopathological features, and treatment strategies of EBV-HLH have been described. In patients with EBV-HLH, the EBV-infected T cells or natural killer (NK) cells are mostly mono- or oligo-clonally proliferating, where hypercytokinemia plays a major role and causes hemophagocytosis,

Shinsaku Imashuku

2002-01-01

213

Ataxia-Telangiectasia in Iran: Clinical and Laboratory Features of 104 Patients  

Microsoft Academic Search

Ataxia-telangiectasia is a multisystem disorder charac- terized by progressive neurologic impairment, variable immunodeficiency, impaired organ maturation, x-ray hypersensitivity, oculocutaneous telangiectasia, and a predisposition to malignancy. To evaluate clinical and immunologic features of Iranian patients with ataxia- telangiectasia, the records of 104 patients with ataxia- telangiectasia (54 male, 50 female) with the age range of 1.6-23.5 years were reviewed. The Iranian

Mostafa Moin; Asghar Aghamohammadi; Ali Kouhi; Sanaz Tavassoli; Nima Rezaei; Saeed-Reza Ghaffari

2007-01-01

214

Primary spinal cord tumors of childhood: effects of clinical presentation, radiographic features, and pathology on survival  

Microsoft Academic Search

To determine the relationship between clinical presentation, radiographic features, pathology, and treatment on overall survival\\u000a of newly diagnosed pediatric primary spinal cord tumors (PSCT). Retrospective analysis of all previously healthy children\\u000a with newly diagnosed PSCT at a single institution from 1995 to present was performed. Twenty-five pediatric patients (15 boys,\\u000a average 7.9 years) were diagnosed with PSCT. Presenting symptoms ranged from

John R. Crawford; Alejandra Zaninovic; Mariarita Santi; Elisabeth J. Rushing; Cara H. Olsen; Robert F. Keating; Gilbert Vezina; Nadja Kadom; Roger J. Packer

2009-01-01

215

Predicting Relapse in Patients With Medulloblastoma by Integrating Evidence From Clinical and Genomic Features  

PubMed Central

Purpose Despite significant progress in the molecular understanding of medulloblastoma, stratification of risk in patients remains a challenge. Focus has shifted from clinical parameters to molecular markers, such as expression of specific genes and selected genomic abnormalities, to improve accuracy of treatment outcome prediction. Here, we show how integration of high-level clinical and genomic features or risk factors, including disease subtype, can yield more comprehensive, accurate, and biologically interpretable prediction models for relapse versus no-relapse classification. We also introduce a novel Bayesian nomogram indicating the amount of evidence that each feature contributes on a patient-by-patient basis. Patients and Methods A Bayesian cumulative log-odds model of outcome was developed from a training cohort of 96 children treated for medulloblastoma, starting with the evidence provided by clinical features of metastasis and histology (model A) and incrementally adding the evidence from gene-expression–derived features representing disease subtype–independent (model B) and disease subtype–dependent (model C) pathways, and finally high-level copy-number genomic abnormalities (model D). The models were validated on an independent test cohort (n = 78). Results On an independent multi-institutional test data set, models A to D attain an area under receiver operating characteristic (au-ROC) curve of 0.73 (95% CI, 0.60 to 0.84), 0.75 (95% CI, 0.64 to 0.86), 0.80 (95% CI, 0.70 to 0.90), and 0.78 (95% CI, 0.68 to 0.88), respectively, for predicting relapse versus no relapse. Conclusion The proposed models C and D outperform the current clinical classification schema (au-ROC, 0.68), our previously published eight-gene outcome signature (au-ROC, 0.71), and several new schemas recently proposed in the literature for medulloblastoma risk stratification. PMID:21357789

Tamayo, Pablo; Cho, Yoon-Jae; Tsherniak, Aviad; Greulich, Heidi; Ambrogio, Lauren; Schouten-van Meeteren, Netteke; Zhou, Tianni; Buxton, Allen; Kool, Marcel; Meyerson, Matthew; Pomeroy, Scott L.; Mesirov, Jill P.

2011-01-01

216

Cranial dystonia, blepharospasm and hemifacial spasm: clinical features and treatment, including the use of botulinum toxin.  

PubMed Central

Blepharospasm, the most frequent feature of cranial dystonia, and hemifacial spasm are two involuntary movement disorders that affect facial muscles. The cause of blepharospasm and other forms of cranial dystonia is not known. Hemifacial spasm is usually due to compression of the seventh cranial nerve at its exit from the brain stem. Cranial dystonia may result in severe disability. Hemifacial spasm tends to be much less disabling but may cause considerable distress and embarrassment. Patients affected with these disorders are often mistakenly considered to have psychiatric problems. Although the two disorders are quite distinct pathophysiologically, therapy with botulinum toxin has proven very effective in both. We review the clinical features, proposed pathophysiologic features, differential diagnosis and treatment, including the use of botulinum toxin, of cranial dystonia and hemifacial spasm. Images Fig. 2 Fig. 3 PMID:3052771

Kraft, S P; Lang, A E

1988-01-01

217

Clinical Features of 705 Borrelia burgdorferi Seropositive Patients in an Endemic Area of Northern Italy  

PubMed Central

Background. Lyme Borreliosis is a multisystemic infection caused by spirochetes of Borrelia burgdorferi sensu lato complex. The features of Lyme Borreliosis may differ in the various geographical areas, primarily between the manifestations found in America and those found in Europe and Asia. Objective. to describe the clinical features of Lyme Borreliosis in an endemic geographic area such as Friuli-Venezia Giulia in the Northeastern part of Italy. Methods. The medical records of patients resulted seropositive for Borrelia burgdorferi have been retrospectively recorded and analyzed. Results. Seven hundred and five patients met the inclusion criteria, 363 males and 342 females. Erythema migrans was the most common manifestation, detected in 437 patients. Other classical cutaneous manifestations included 58 cases of multiple erythema migrans, 7 lymphadenosis benigna cutis, and 18 acrodermatitis chronica atrophicans. The musculoskeletal system was involved in 511 patients. Four hundred and sixty patients presented a neurological involvement. Flu-like symptoms preceded or accompanied or were the only clinical feature in 119 patients. Comments. The manifestations of Lyme borreliosis recorded in this study are similar to the ones of other endemic areas in Europe, even if there are some peculiar features which are different from those reported in Northern Europe and in the USA. PMID:24550705

Ruscio, Maurizio; Trotter, Davide

2014-01-01

218

Clinical and radiographic features of Hutchinson-Gilford progeria syndrome: A case report  

PubMed Central

Hutchinson-Gilford progeria syndrome (HGPS) is a rare dysmorphic syndrome characterized by several features of premature aging with clinical involvement of the skin, bones, and cardiovascular system. HGPS has an estimated incidence of one in four million to one in eight million births. The main clinical features of HGPS include short stature, craniofacial dimorphism, alopecia, bone fragility, and cardiovascular disorders. The most frequent cause of death is myocardial infarction at a mean age of 13 years old. Dental manifestations include delayed development and eruption of teeth, discoloration, crowding and rotation of teeth, and displaced teeth. Cone beam computed tomography images revealed the absence of the sphenoid, frontal, and maxillary sinus, flattening of the condyles and glenoid fossa, and bilateral hypoplasia of the mandibular condyles. The disease is caused by mutations in lamin A/C (LMNA). Here, we present a case report of an 11-year-old boy with classical features of HGPS, which was caused by a de novo germ-line mutation (C1824T, G608G) in exon 11 of the LMNA gene. Some uncommon HGPS-associated features in our patient, such as alterations in the facial sinuses and hypoplasia of the condyles, contributed to the expansion of the phenotypic spectrum of this syndrome from a dentomaxillofacial perspective. PMID:24653988

Alves, Daniel Berretta; Silva, Juliana Melo; Menezes, Tatiany Oliveira; Cavaleiro, Rosely Santos; Tuji, Fabricio Mesquita; Lopes, Marcio Ajudarte; Zaia, Alexandre Augusto; Coletta, Ricardo Della

2014-01-01

219

Clinical Features and Molecular Analysis of Hb H Disease in Taiwan  

PubMed Central

Thalassemia is highly prevalent in Taiwan, but limited data are available about the association between genotypes and clinical manifestations in Taiwanese patients with Hb H disease. Here, we studied ?-globin gene abnormalities and clinical features in Taiwanese patients with Hb H disease. Of the 90 patients, sixty-four (71.1%) were deletional and twenty-six (28.9%) were nondeletional Hb H disease. The (-?-SEA) type of ?0-thalassemia mutation was detected in the majority of patients (>95%). The most common genotype was (-?-SEA/-?3.7), followed by (-?-SEA/?cs?). After further investigation of the genotype-phenotype correlation in 68 patients, we found that patients with nondeletional Hb H disease had more severe clinical features than those with deletional Hb H disease, including younger age at diagnosis, more requirement of blood transfusions, and larger proportion of patients with splenomegaly, hepatomegaly or jaundice. This is probably a consequence of the lower hemoglobin levels and the higher Hb H levels. The clinical severity was highly variable even among patients with an identical genotype, and the diversity was much more profound among patients with (-?-/?cs?) genotype. Therefore, predicting the phenotype directly from the genotype in Hb H disease remains relatively difficult in Taiwan.

Chao, Yu-Hua; Wu, Kang-Hsi; Wu, Han-Ping; Liu, Su-Ching; Peng, Ching-Tien; Lee, Maw-Sheng

2014-01-01

220

Epidemiological features of amyotrophic lateral sclerosis in a large clinic-based African American population.  

PubMed

Our objective was to identify the main clinical and epidemiological features of ALS in a large cohort of African American (AA) patients and compare them to Caucasian (CA) patients in a clinic-based population. We retrospectively identified 207 patients who were diagnosed with ALS based on the revised El Escorial criteria (60 AA and 147 CA subjects). Patients were seen in the Neuromuscular Division at the University Medical Center. We compared epidemiological and clinical features of these two groups, focusing on age of onset and diagnosis, clinical presentation and survival. Results showed that AA patients had a significantly younger age of disease onset (55 years vs. 61 years for CA, p = 0.011) and were diagnosed at an earlier age (56 years vs. 62 years, p = 0.012). In younger ALS patients (< 45 years of age), there was a significant difference in gender frequency, with females predominating in the AA population and males in the CA population (p = 0.025). In a multivariable Cox proportional hazard model, survival rates were not different between the groups. In both groups, survival significantly increased with younger age. In conclusion, AA patients presented at an earlier age, but there was no difference in survival compared to CA patients. A gender reversal occurred in younger ALS patients, with AA patients more likely to be female and CA patients more likely to be male. PMID:23458155

Kazamel, Mohamed; Cutter, Gary; Claussen, Gwendolyn; Alsharabati, Mohammad; Oh, Shin J; Lu, Liang; King, Peter H

2013-09-01

221

Clinical and magnetic resonance imaging features of cricket bowler's side strain.  

PubMed

The clinical features of 10 cases of lateral trunk muscle injury in first class cricket pace bowlers are described. Typically the injury occurs during a single delivery, is associated with considerable pain, and prevents the bowler from continuing. The clinical picture is typical of a muscular or musculotendinous injury. The most consistent clinical tests were focal tenderness on palpation and pain with resisted side flexion towards the painful side. The magnetic resonance image in 70% of cases was consistent with an injury to the internal oblique, the external oblique, or the transversalis muscles at or near their attachments to one or more of the lowest four ribs. The injury occurs on the non-bowling arm side. Recovery can be prolonged. The injury was a recurrence in six of the 10 cases. The biomechanics of the injury are not yet understood. PMID:15388565

Humphries, D; Jamison, M

2004-10-01

222

Clinical Features and Treatment Outcomes of Vitiligo from the Patients’ Perspective: Results of a National Survey in Germany  

Microsoft Academic Search

Background: Vitiligo causes substantial disease burden and patient needs still remain underestimated. Objective: To assess the clinical features, treatment outcomes and satisfaction in patients with vitiligo. Methods: A nationwide, cross-sectional German postal survey was conducted. Clinical features and treatment outcomes of vitiligo (affected body surface, comorbidities, treatments applied, patient benefit index [PBI]) were evaluated using a standardized patient questionnaire. Results:

Marc A. Radtke; Ines Schäfer; Angelika I. Gajur; Matthias Augustin

2010-01-01

223

Robotic walkers from a clinical point of view: Feature-based classification and proposal of the UFES Walker  

Microsoft Academic Search

This paper presents a critical review of the state of the art of robotic walkers, emphasizing on the clinical applicability of the main features reported in such systems. A feature-based classification is proposed along with the presentation of the possible clinical scenarios, highlighting the potential of these devices for modern physical therapy practice. Based on the classification, the development of

Arlindo Elias; Anselmo Frizera; Teodiano Freire Bastos; Carlos Valadao

2012-01-01

224

Feasibility of feature-based indexing, clustering, and search of clinical trials: A case study of breast cancer trials from ClinicalTrials.gov  

PubMed Central

Summary Background When standard therapies fail, clinical trials provide experimental treatment opportunities for patients with drug-resistant illnesses or terminal diseases. Clinical Trials can also provide free treatment and education for individuals who otherwise may not have access to such care. To find relevant clinical trials, patients often search online; however, they often encounter a significant barrier due to the large number of trials and in-effective indexing methods for reducing the trial search space. Objectives This study explores the feasibility of feature-based indexing, clustering, and search of clinical trials and informs designs to automate these processes. Methods We decomposed 80 randomly selected stage III breast cancer clinical trials into a vector of eligibility features, which were organized into a hierarchy. We clustered trials based on their eligibility feature similarities. In a simulated search process, manually selected features were used to generate specific eligibility questions to filter trials iteratively. Results We extracted 1,437 distinct eligibility features and achieved an inter-rater agreement of 0.73 for feature extraction for 37 frequent features occurring in more than 20 trials. Using all the 1,437 features we stratified the 80 trials into six clusters containing trials recruiting similar patients by patient-characteristic features, five clusters by disease-characteristic features, and two clusters by mixed features. Most of the features were mapped to one or more Unified Medical Language System (UMLS) concepts, demonstrating the utility of named entity recognition prior to mapping with the UMLS for automatic feature extraction. Conclusions It is feasible to develop feature-based indexing and clustering methods for clinical trials to identify trials with similar target populations and to improve trial search efficiency. PMID:23666475

Boland, Mary Regina; Miotto, Riccardo; Gao, Junfeng; Weng, Chunhua

2013-01-01

225

Clinical features of dementia with lewy bodies in 35 Chinese patients  

PubMed Central

Objective To investigate the clinical features of dementia with Lewy bodies (DLB) in a Chinese population. Methods Computer-based online searches through China Biology Medicine disc and China National Knowledge Infrastructure were performed to collect case reports of DLB published between 1980 and 2012. Clinical characteristics were analyzed. Results A total of 18 studies comprising 35 patients (26 males and 9 females) were included. The mean age at onset was 67.2?±?9.8 years. Onset was characterized by memory impairment and accounted for 58.8% of all cases, followed by parkinsonism (11.8%), visual hallucinations (8.8%), and compulsive personality disorder (2.9%). The other patients (17.6%) presented two of the three core features of DLB at onset. With disease progression, parkinsonism was reported in 100% of cases, followed by visual hallucinations (97.1%), psychiatric symptoms (85.7%), severe neuroleptic sensitivity (81.8%), fluctuating cognition (68.6%), repeated falls (40.0%), sleep disorders (22.9%), and transient loss of consciousness (17.1%). 26 patients who were subjected to Mini-Mental State Examination scored ? 24. 10 patients presented relative preservation of hippocampus and medial temporal lobe structures on CT/MRI scan. Occipital hypometabolism occurred in 2 of 3 patients who underwent SPECT/PET perfusion scan. 12 patients showed an increasing of slow frequency activity on EEG, prominently in frontal and temporal lobes. Conclusions DLB often strikes elderly individuals. Its clinical core features are dementia, fluctuating cognition, recurrent visual hallucinations and spontaneous features of parkinsonism. Neuropsychological, neuroimaging and EEG examinations may improve the diagnostic accuracy and discriminate DLB from other dementias. PMID:24398160

2014-01-01

226

Foot Drop Caused by Lumbar Degenerative Disease: Clinical Features, Prognostic Factors of Surgical Outcome and Clinical Stage  

PubMed Central

Objective The purpose of this study was to analyze the clinical features and prognostic factors of surgical outcome of foot drop caused by lumbar degenerative disease and put forward the clinical stage. Methods We retrospectively reviewed 135 patients with foot drop due to lumbar degenerative disease. The clinical features and mechanism were analyzed. Age, sex, duration of palsy, preoperative muscle strength of tibialis anterior (TA), sensation defect of affected lower limb, affected foot, diagnosis and compressed nerve roots were recorded and compared with surgical outcome. Results Foot drop was observed in 8.1% of all inpatients of lumbar degenerative disease. L5 nerve root compression was observed in 126 of all 135 patients (93.3%). Single, double and triple roots compression was observed respectively in 43, 83, and 9 patients (31.9%, 61.5%, and 6.6%). But there was no significant relationship between preoperative muscle strength of TA and the number of compressed roots. The muscle strength of TA was improved in 113 (83.7%) patients after surgery, but it reached to >=4 in only 21 (15.6%) patients. Improvement of the muscle strength of TA was almost stable at the 6-month follow-up. At the last follow-up, the muscle strength of TA was 1, 2, 3, 4, 5 respectively in 28, 24, 62, 13, 8 patients. Multivariate logistic regression showed duration of palsy (p=0.0360, OR=2.543), preoperative muscle strength of TA (p=0.0064, OR=5.528) and age (p=0.0309, OR=3.208) were factors that influenced recovery following an operation. Conclusions L5 nerve root was most frequently affected. The muscle strength of TA improved in most patients after surgery, but few patients can get a good recovery from foot drop. Patients of shorter duration of palsy, better preoperative muscle strength of TA and younger age showed a better surgical outcome. PMID:24224052

Shi, Jiangang; Jia, Lianshun; Shi, Guodong; Wang, Yuan; Liu, Ning

2013-01-01

227

Morphometry of non-native black bullhead Ameiurus melas from Slovakia  

Microsoft Academic Search

The study on the external morphology of the non-native black bullhead (Ameiurus melas) was carried out on a population from Slovakia, based on triple regression and geometrical analysis. The breakpoints distribution\\u000a in distance-based morphometric characters indicated that black bullhead reached its definitive phenotype early in ontogeny.\\u000a Ontogenetic changes in external morphology occurred continuously throughout the whole size-range of the sample

Andrea Novomeská; Vladimír Ková?; Stanislav Katina

2010-01-01

228

The relevance of recognizing clinical and morphologic features of pityriasis lichenoides: clinicopathological study of 29 cases  

PubMed Central

Background: Pityriasis lichenoides (PL) is a lymphoproliferative disease of unknown origin; its diagnosis is based on clinical characteristics and confirmed by histology. Objectives: To describe clinical and histological features of PL in 29 pediatric patients. Materials and Methods: Retrospective descriptive study of children (patients less than 15 years old) diagnosed with PL between 1986 and 2010 at a Reference Service in Pediatric Dermatology from South Brazil. Results: Twenty-nine PL cases were found by chart review in 24 years. Mean age of diagnosis was 8 years (22 to 178 months) and a mean time of diagnosis was 13.8 months (1 to 120 months). Twenty cases (69%) were male. Seasonal correlation was found with colder months in 62% of cases (p<0.01). Clinical diagnosis was pityriasis lichenoides chronica (PLC) in 25 cases, and pityriasis lichenoides et varioliformis acuta (PLEVA) in four. Itching was the main reported symptom occurring in 13 (45%). Fourteen cases had been histologically evaluated. In six, microscopic findings were consistent with PLC, in four consistent with PLEVA, and four biopsies exhibited mixed characteristics of both forms. Concordance between clinical and histological diagnosis was seen in most cases. Conclusion: PL occurs in children and young adults, more commonly in males, and during cold months. PLC was the more frequent clinicohistologic form, and necrotic lesions characterized PLEVA. Associating clinical and histological findings is important for differentiating between PLC and PLEVA diagnosis. PMID:24282656

Markus, Jandrei Rogerio; Carvalho, Vania Oliveira; Lima, Monica Nunes; Abagge, Kerstin Taniguchi; Nascimento, Alexandre; Werner, Betina

2013-01-01

229

Distinctive clinical features of human bocavirus in children younger than 2 years  

PubMed Central

Background and objective Clinical characteristics of human bocavirus (HBoV) infection have been studied worldwide, but their importance of those characteristics remains unknown. We investigated distinctive clinical features of HBoV-positive children with lower respiratory tract infection (LRTI). Methods and results During April 2007–July 2009, for 402 hospitalized children younger than 2 years with LRTI, we prospectively examined virus genomes in nasopharyngeal swabs for HBoV, respiratory syncytial virus (RSV), rhinovirus, metapneumovirus, parainfluenzavirus, and adenovirus. The HBoV genomes were identified in 34 patients (8.5%). Clinical and laboratory data of HBoV-positive and other virus/bacteria-negative patients (n?=?18) were analyzed and compared with data of RSV-single positive patients (n?=?99). The seasonal distribution of HBoV exhibits a concentration of cases during March–September, with most RSV cases occurring during winter in Japan. The minimum age of HBoV-positive patients was 5 months, although 44 patients (44%) with RSV were younger than 6 months. The main clinical features were respiratory distress and hypoxia. Hypoxia advances within 3 days after onset. The mean oxygen saturation on arrival was 92.8%, which was significantly lower than that in patients with RSV (p?clinical characteristics, such as seasonality, age, hypoxia, and neutrophilia, which differ from those with RSV infection. PMID:20383526

Moriyama, Yoko; Okada, Mineyuki; Tsuchiya, Nozomi; Maru, Hiromi; Shirato, Yuri; Maeda, Yasuhiro; Hirose, Yosuke; Yoshida, Masaki; Omura, Yoh; Honda, Takafumi; Muto, Ayako; Hayashi, Kitami; Terai, Masaru

2010-01-01

230

Perineural Infiltration of Cutaneous Squamous Cell Carcinoma and Basal Cell Carcinoma Without Clinical Features  

SciTech Connect

Purpose: To review the factors that influence outcome and patterns of relapse in patients with cutaneous squamous cell carcinoma (SCC) and basal cell carcinoma (BCC) with perineural infiltration (PNI) without clinical or radiologic features, treated with surgery and radiotherapy. Methods and Materials: Between 1991 and 2004, 222 patients with SCC or BCC with PNI on pathologic examination but without clinical or radiologic PNI features were identified. Charts were reviewed retrospectively and relevant data collected. All patients were treated with curative intent; all had radiotherapy, and most had surgery. The primary endpoint was 5-year relapse-free survival from the time of diagnosis. Results: Patients with SCC did significantly worse than those with BCC (5-year relapse-free survival, 78% vs. 91%; p < 0.01). Squamous cell carcinoma with PNI at recurrence did significantly worse than de novo in terms of 5-year local failure (40% vs. 19%; p < 0.01) and regional relapse (29% vs. 5%; p < 0.01). Depth of invasion was also a significant factor. Of the PNI-specific factors for SCC, focal PNI did significantly better than more-extensive PNI, but involved nerve diameter or presence of PNI at the periphery of the tumor were not significant factors. Conclusions: Radiotherapy in conjunction with surgery offers an acceptable outcome for cutaneous SCC and BCC with PNI. This study suggests that focal PNI is not an adverse feature.

Lin, Charles, E-mail: Charles_Lin@health.qld.gov.au [Cancer Care Services, Royal Brisbane and Women's Hospital, Brisbane, Queensland (Australia); Tripcony, Lee; Keller, Jacqui [Cancer Care Services, Royal Brisbane and Women's Hospital, Brisbane, Queensland (Australia); Poulsen, Michael [Mater Hospital, Brisbane, Queensland (Australia); Martin, Jarad [St. Andrews Hospital, Toowoomba, Queensland (Australia); Jackson, James; Dickie, Graeme [Cancer Care Services, Royal Brisbane and Women's Hospital, Brisbane, Queensland (Australia)

2012-01-01

231

Susceptibility of black bullhead Ameiurus melas to a panel of ranavirus isolates.  

PubMed

Ranaviruses are considered a serious threat to lower vertebrates, including fish, amphibians and reptiles. However, epidemiological data on these agents are lacking, and further investigations are needed to understand the role of carriers and to update the list of susceptible hosts. We carried out various experimental infections under controlled conditions to contribute to the current knowledge on the susceptibility of black bullhead Ameiurus melas to European catfish virus (ECV) and other ranaviruses. A panel of 7 ranavirus isolates was used to challenge duplicate groups of A. melas juveniles maintained in aquaria supplied with running dechlorinated tap water. The experiments were performed at 15 and 25 degrees C. The results confirmed the high susceptibility of A. melas to ECV infection. Furthermore, a significant mortality associated with the typical signs of systemic viral infections was observed in groups challenged with Epizootic haematopoietic necrosis virus (EHNV) at 25 degrees C, and to a lesser extent, at 15 degrees C. No significant mortality was recorded in fish challenged with European sheatfish virus (ESV), Frog virus 3 (FV3), Rana esculenta virus-like (REV-like), Bohle iridovirus (BIV) or short-finned eel virus (SERV). PMID:20815324

Gobbo, F; Cappellozza, E; Pastore, M R; Bovo, G

2010-07-01

232

Clinical features, diagnostic tools, and treatment regimens for visceral leishmaniasis in Bulgaria  

PubMed Central

Purpose Visceral leishmaniasis (VL), caused by the parasite Leishmania infantum, which was once largely confined to Southern Europe is now being diagnosed throughout Northern Europe, including Great Britain. In an effort to help EU clinicians improve their diagnosis and management of VL, this paper defines clinical features typical of the disease as it presents in Bulgaria, where VL is endemic. Methods The list of clinical symptoms presented here was gleaned from the medical records (patient histories, epidemiological survey cards, laboratory data) of 59 Bulgarian patients with VL. This study also includes microscopic, serological, and molecular laboratory techniques. Results Described and analyzed are the clinical features, diagnostic techniques, and therapeutic regimens of 59 cases – part of the total number of VL case histories (P?=?120, 116 Bulgarian and 4 not Bulgarian) collected in Bulgaria over the past 24 years (1988–2011). Although all of the studied 59 cases presented with classical symptoms of VL, only in three occasions, the initial diagnosis was correct. Conclusions Left untreated, zooanthroponotic VL leads to debilitating chronic disease and even death. Yet, because VL is hard to recognize and relatively new to Northern Europe, misdiagnosis is common and treatment too often inappropriate and delayed. PMID:23916335

Harizanov, Rumen N; Kaftandjiev, Iskren T; Jordanova, Diana P; Marinova, Irina B; Tsvetkova, Nina D

2013-01-01

233

Association of Systemic Lupus Erythematosus Clinical Features with European Population Genetic Substructure  

PubMed Central

Systemic Lupus Erythematosus (SLE) is an autoimmune disease with a very varied spectrum of clinical manifestations that could be partly determined by genetic factors. We aimed to determine the relationship between prevalence of 11 clinical features and age of disease onset with European population genetic substructure. Data from 1413 patients of European ancestry recruited in nine countries was tested for association with genotypes of top ancestry informative markers. This analysis was done with logistic regression between phenotypes and genotypes or principal components extracted from them. We used a genetic additive model and adjusted for gender and disease duration. Three clinical features showed association with ancestry informative markers: autoantibody production defined as immunologic disorder (P?=?6.8×10?4), oral ulcers (P?=?6.9×10?4) and photosensitivity (P?=?0.002). Immunologic disorder was associated with genotypes more common in Southern European ancestries, whereas the opposite trend was observed for photosensitivity. Oral ulcers were specifically more common in patients of Spanish and Portuguese self-reported ancestry. These results should be taken into account in future research and suggest new hypotheses and possible underlying mechanisms to be investigated. A first hypothesis linking photosensitivity with variation in skin pigmentation is suggested. PMID:22194982

Calaza, Manuel; Witte, Torsten; Papasteriades, Chryssa; Marchini, Maurizio; Migliaresi, Sergio; Kovacs, Attila; Ordi-Ros, Josep; Bijl, Marc; Santos, Maria Jose; Ruzickova, Sarka; Pullmann, Rudolf; Carreira, Patricia; Skopouli, Fotini N.; D'Alfonso, Sandra; Sebastiani, Gian Domenico; Suarez, Ana; Blanco, Francisco J.; Gomez-Reino, Juan J.; Gonzalez, Antonio

2011-01-01

234

Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations.  

PubMed

Heterozygous loss of function mutations of CASK at Xp11.4 in females cause severe intellectual disability (ID) and microcephaly with pontine and cerebellar hypoplasia (MICPCH). However, the longitudinal clinical and radiological course of affected patients, including patterns of postnatal growth, has not been described. Neurodevelopmental and imaging information was retrospectively accrued for 16 Japanese (15 female and 1 male) patients with ID and MICPCH associated with CASK mutations. All records were analyzed; patient age ranged from 2 to 16 years at the time of the most recent examinations. The growth pattern, neurological development, neurological signs/symptoms, and facial features were similar in the 15 female patients. Their head circumference at birth was within the normal range in about half, and their height and weight were frequently normal. This was followed by early development of severe microcephaly and postnatal growth retardation. The patients acquired head control almost normally between 3 and 6 months, followed by motor delay. More than half of the female patients had epilepsy. Their MRIs showed microcephaly, brainstem, and cerebellar hypoplasia in early infancy, and a normal or large appearing corpus callosum. The male patient showed a more severe clinical phenotype. These uniform clinical and radiological features should facilitate an early diagnosis and be useful for medical care of females with ID and MICPCH associated with CASK mutations. PMID:23165780

Takanashi, Jun-ichi; Okamoto, Nobuhiko; Yamamoto, Yuto; Hayashi, Shin; Arai, Hiroshi; Takahashi, Yukitoshi; Maruyama, Koichi; Mizuno, Seiji; Shimakawa, Shuichi; Ono, Hiroaki; Oyanagi, Reiki; Kubo, Satomi; Barkovich, A James; Inazawa, Johji

2012-12-01

235

Bacterial brain abscess in patients with nasopharyngeal carcinoma following radiotherapy: microbiology, clinical features and therapeutic outcomes  

PubMed Central

Background This study aimed to analyze the clinical features, causative pathogens, neuro-imaging findings, and therapeutic outcomes of bacterial brain abscess in patients with nasopharyngeal carcinoma (NPC) following radiotherapy. Methods NPC patients with bacterial brain abscess were evaluated. Their clinical data were collected over a 22-year period. For comparison, the clinical features, causative pathogens, neuro-imaging findings, and therapeutic outcomes between NPC and non-NPC patients were analyzed. Results NPC accounted for 5.7% (12/210) of the predisposing factors, with Viridans streptococci and Staphylococcus aureus as the two most common causative pathogens. Significant statistical analysis between the two groups (NPC and non-NPC patients) included chronic otitis media (COM) as the underlying disease, post-radiation necrosis by neuro-imaging, and the temporal lobe as the most common site of brain abscesses. The fatality rate in patients with and without NPC was 16.7% and 20.7%, respectively. Conclusions NPC patients with bacterial brain abscess frequently have COM as the underlying disease. Neuro-imaging often reveals both post-radiation necrosis and the temporal lobe as the most common site of brain abscesses, the diagnosis of which is not always a straightforward process. Radiation necrosis can mimic brain abscess on neuro-imaging and pose significant diagnostic challenges. Early diagnosis and treatment is essential for survival. PMID:22943134

2012-01-01

236

Clinical correlates of the gross, radiographic, and histologic features of urinary matrix calculi.  

PubMed

We present five patients with urinary matrix calculi, which, in contrast to the normally brittle calcigerous calculi, are soft, pliable, and amorphous. Common clinical features include a history of calcigerous stone disease, renal surgery, urinary obstruction or stasis, and chronic infection with Proteus species or coliforms. The diagnosis is usually made at surgery, but certain preoperative radiographic findings may be suggestive. Matrix calculi are radiolucent on plain abdominal films, although their appearance on nonenhanced CT scans is similar to that of calcigerous calculi despite their small mineral content. Extracorporeal shockwave lithotripsy is ineffective; open or percutaneous techniques are necessary. Histologic inspection reveals laminar concentric rings of organized matrix with an orderly, layered deposition of minerals. Histochemical investigation can provide insight into the possible sequence of events in normal calculogenesis. The successful management of urinary matrix calculi depends on a high index of suspicion and a thorough knowledge of their clinicopathologic features. PMID:7858618

Stoller, M L; Gupta, M; Bolton, D; Irby, P B

1994-10-01

237

Nodding syndrome in Ugandan children--clinical features, brain imaging and complications: a case series  

PubMed Central

Objectives Nodding syndrome is a devastating neurological disorder of uncertain aetiology affecting children in Africa. There is no diagnostic test, and risk factors and symptoms that would allow early diagnosis are poorly documented. This study aimed to describe the clinical, electrophysiological and brain imaging (MRI) features and complications of nodding syndrome in Ugandan children. Design Case series. Participants 22 children with nodding syndrome brought to Mulago National Referral Hospital for assessment. Outcome measures Clinical features, physical and functional disabilities, EEG and brain MRI findings and a staging system with a progressive development of symptoms and complications. Results The median age of symptom onset was 6 (range 4–10) years and median duration of symptoms was 8.5 (range 2–11) years. 16 of 22 families reported multiple affected children. Physical manifestations and complications included stunting, wasting, lip changes and gross physical deformities. The bone age was delayed by 2 (range 1–6) years. There was peripheral muscle wasting and progressive generalised wasting. Four children had nodding as the only seizure type; 18 in addition had myoclonic, absence and/or generalised tonic–clonic seizures developing 1–3?years after the onset of illness. Psychiatric manifestations included wandering, aggression, depression and disordered perception. Cognitive assessment in three children demonstrated profound impairment. The EEG was abnormal in all, suggesting symptomatic generalised epilepsy in the majority. There were different degrees of cortical and cerebellar atrophy on brain MRI, but no hippocampal changes. Five stages with worsening physical, EEG and brain imaging features were identified: a prodrome, the development of head nodding and cognitive decline, other seizure types, multiple complications and severe disability. Conclusions Nodding syndrome is a neurological disorder that may be characterised as probably symptomatic generalised epilepsy. Clinical manifestations and complications develop in stages which might be useful in defining treatment and rehabilitation. Studies of risk factors, pathogenesis, management and outcome are urgently needed. PMID:23645924

Idro, Richard; Opoka, Robert Opika; Aanyu, Hellen T; Kakooza-Mwesige, Angelina; Piloya-Were, Theresa; Namusoke, Hanifa; Musoke, Sarah Bonita; Nalugya, Joyce; Bangirana, Paul; Mwaka, Amos Deogratius; White, Steven; Chong, Kling; Atai-Omoruto, Anne D; Mworozi, Edison; Nankunda, Jolly; Kiguli, Sarah; Aceng, Jane Ruth; Tumwine, James K

2013-01-01

238

Organophosphate poisoning in Rhodesia. A study of the clinical features and management of 105 patients.  

PubMed

A series of 105 patients with organophosphate poisoning admitted to Harari Hospital during the past 4 years is described. Poisoning with organophosphate compounds is being seen more frequently in hospital practice in Rhodesia. Many of the cases are attempted suicides, but frequently there is no positive history of contact with the poison. The majority of patients exhibit the classic clinical features of parasympathetic overactivity, but diagnosis may be obscured by atypical presentation. Rapid diagnosis and utilization of the treatment regimen outlined in this article should reduce the mortality to less than 15%. PMID:715598

Hayes, M M; van der Westhuizen, N G; Gelfand, M

1978-08-01

239

The Morel-Lavallée lesion: pathophysiology, clinical presentation, imaging features, and treatment options.  

PubMed

Morel-Lavallée lesions are posttraumatic hemolymphatic collections related to shearing injury and disruption of interfascial planes between subcutaneous soft tissue and muscle. We review the pathophysiology of Morel-Lavallée lesions, clinical presentation, and potential sites of involvement. Magnetic resonance imaging (MRI) is the modality of choice for characterization. We present the MRI classification and highlight the key imaging features that distinguish the different types, focusing on the three most common: seroma, subacute hematoma, and chronic organizing hematoma. Potential mimics of Morel-Lavallée lesions, such as soft tissue sarcoma and hemorrhagic prepatellar bursitis, are compared and contrasted. Treatment options and a management algorithm are also briefly discussed. PMID:23949106

Bonilla-Yoon, Iris; Masih, Sulabha; Patel, Dakshesh B; White, Eric A; Levine, Benjamin D; Chow, Kira; Gottsegen, Christopher J; Matcuk, George R

2014-02-01

240

Clinical Features and Associated Abnormalities in Children and Adolescents With Corpus Callosal Anomalies  

PubMed Central

Callosal anomalies are frequently associated with other central nervous system (CNS) and/or somatic anomalies. We retrospectively analyzed the clinical features of corpus callosal agenesis/hypoplasia accompanying other CNS and/or somatic anomalies. We reviewed the imaging and clinical information of patients who underwent brain magnetic resonance imaging in our hospital, between 2005 and 2012. Callosal anomalies were isolated in 13 patients, accompanied by other CNS anomalies in 10 patients, associated with only non-CNS somatic anomalies in four patients, and with both CNS and non-CNS abnormalities in four patients. Out of 31 patients, four developed normally, without impairments in motor or cognitive functions. Five of nine patients with cerebral palsy were accompanied by other CNS and/or somatic anomalies, and showed worse Gross Motor Function Classification System scores, compared with the other four patients with isolated callosal anomaly. In addition, patients with other CNS anomalies also had a higher seizure risk. PMID:24639939

Kim, Young Uhk; Park, Eun Sook; Jung, Soojin; Suh, Miri; Choi, Hyo Seon

2014-01-01

241

Popliteal Cysts in Paediatric Patients: Clinical Characteristics and Imaging Features on Ultrasound and MRI  

PubMed Central

Popliteal cysts, or Baker cysts, are considered rare in children and may exhibit particular features, as compared with adults. We studied data from 80 paediatric patients with 55 Baker cysts, examined over a period of 7 years, and correlated clinical presentation with findings on ultrasonography and MRI. Prevalence of popliteal cysts was 57% in arthritic knees, 58% with hypermobility syndrome, and 28% without risk factors. Only one patient had a trauma history and showed an ipsilateral cyst. Mean cyst volume was 3.4?mL; cysts were larger in boys. Patients with arthritis had echogenic cysts in 53%. Cyst communication with the joint space was seen in 64% on ultrasonography and 86% on MRI. In conclusion, Baker cysts are a common finding in a clinically preselected paediatric population. Children with Baker cysts should be assessed for underlying arthritis and inherited joint hypermobility, while sporadic Baker cysts appear to be common, as well. PMID:22046524

Neubauer, Henning; Morbach, Henner; Schwarz, Tobias; Wirth, Clemens; Girschick, Hermann; Beer, Meinrad

2011-01-01

242

Clinical features, proximate causes and consequences of active convulsive epilepsy in Africa  

PubMed Central

SUMMARY Purpose Epilepsy is common in sub-Saharan Africa (SSA), but the clinical features and consequences are poorly characterized. Most studies are hospital-based and few studies have compared different ecological sites in SSA. We described active convulsive epilepsy (ACE) identified in cross-sectional community-based surveys in SSA, to understand the proximate causes, features, and consequences. Methods We performed a detailed clinical and neurophysiological description of ACE cases identified from a community survey of 584,586 people using medical history, neurological examination and electroencephalograph (EEG) data from five sites in Africa: South Africa; Tanzania; Uganda; Kenya and Ghana. The cases were examined by clinicians to discover risk factors, clinical features, and consequences of epilepsy. We used logistic regression to determine the epilepsy factors associated with medical comorbidities. Key findings Half (51%) of the 2,170 people with ACE were children and 69% of seizures began in childhood. Focal features (EEG, seizure types and neurological deficits) were present in 58% of ACE cases, and varied significantly with site. Status epilepticus occurred in 25% of people with ACE. Only 36% received antiepileptic drugs (phenobarbital was the commonest drug (95%)), and the proportion varied significantly with the site. Proximate causes of ACE were adverse perinatal events (11%) for onset of seizures before 18 years; acute encephalopathy (10%) and head injury prior to seizure-onset (3%). Important comorbidities were malnutrition (15%), cognitive impairment (23%) and neurological deficits (15%). The consequences of ACE were burns (16%), head injuries (post seizures) (1%), lack of education (43%) and being unmarried (67%) or unemployed (57%) in adults; all significantly more common than those without epilepsy. Significance There were significant differences in the co-morbidities across sites. Focal features are common in ACE suggesting identifiable and preventable causes. Malnutrition, cognitive and neurological deficits are common in people with ACE and should be integrated into the management of epilepsy in this region. Consequences of epilepsy such as burns, lack of education, poor marriage prospects and unemployment need to be addressed. PMID:24116877

Kariuki, Symon M; Matuja, William; Akpalu, Albert; Kakooza-Mwesige, Angelina; Chabi, Martin; Wagner, Ryan G; Connor, Myles; Chengo, Eddie; Ngugi, Anthony K; Odhiambo, Rachael; Bottomley, Christian; White, Steven; Sander, Josemir W; Neville, Brian GR; Newton, Charles RJC

2014-01-01

243

Microvascular Coronary Artery Spasm Presents Distinctive Clinical Features With Endothelial Dysfunction as Nonobstructive Coronary Artery Disease  

PubMed Central

Background Angina without significant stenosis, or nonobstructive coronary artery disease, attracts clinical attention. Microvascular coronary artery spasm (microvascular CAS) can cause nonobstructive coronary artery disease. We investigated the clinical features of microvascular CAS and the therapeutic efficacy of calcium channel blockers. Methods and Results Three hundred seventy consecutive, stable patients with suspected angina presenting nonobstructive coronary arteries (<50% diameter) in coronary angiography were investigated with the intracoronary acetylcholine provocation test, with simultaneous measurements of transcardiac lactate production and of changes in the quantitative coronary blood flow. We diagnosed microvascular CAS according to lactate production and a decrease in coronary blood flow without epicardial vasospasm during the acetylcholine provocation test. We prospectively followed up the patients with calcium channel blockers for microvascular coronary artery disease. We identified 50 patients with microvascular CAS who demonstrated significant impairment of the endothelium-dependent vascular response, which was assessed by coronary blood flow during the acetylcholine provocation test. Administration of isosorbide dinitrate normalized the abnormal coronary flow pattern in the patients with microvascular CAS. Multivariate logistic regression analysis indicated that female sex, a lower body mass index, minor–borderline ischemic electrocardiogram findings at rest, limited–baseline diastolic-to-systolic velocity ratio, and attenuated adenosine triphosphate–induced coronary flow reserve were independently correlated with the presence of microvascular CAS. Receiver-operating characteristics curve analysis revealed that the aforementioned 5-variable model showed good correlation with the presence of microvascular CAS (area under the curve: 0.820). No patients with microvascular CAS treated with calcium channel blockers developed cardiovascular events over 47.8±27.5 months. Conclusions Microvascular CAS causes distinctive clinical features and endothelial dysfunction that are important to recognize as nonobstructive coronary artery disease so that optimal care with calcium channel blockers can be provided. Clinical Trial Registration URL: www.umin.ac.jp/ctr. Unique identifier: UMIN000003839. PMID:23316292

Ohba, Keisuke; Sugiyama, Seigo; Sumida, Hitoshi; Nozaki, Toshimitsu; Matsubara, Junichi; Matsuzawa, Yasushi; Konishi, Masaaki; Akiyama, Eiichi; Kurokawa, Hirofumi; Maeda, Hirofumi; Sugamura, Koichi; Nagayoshi, Yasuhiro; Morihisa, Kenji; Sakamoto, Kenji; Tsujita, Kenichi; Yamamoto, Eiichiro; Yamamuro, Megumi; Kojima, Sunao; Kaikita, Koichi; Tayama, Shinji; Hokimoto, Seiji; Matsui, Kunihiko; Sakamoto, Tomohiro; Ogawa, Hisao

2012-01-01

244

Clinical and neuropathological features of the Arctic APP mutation causing early onset Alzheimer's disease  

PubMed Central

Background A majority of mutations within the amyloid ? (A?) region of the amyloid precursor protein (APP) gene cause inherited forms of intracerebral haemorrhage. Most of these mutations may also cause cognitive impairment, but the Arctic APP mutation is the only known intra-A? mutation to date causing the more typical clinical picture of Alzheimer's disease (AD). Objective To describe features of one Swedish and one American family with the previously reported Arctic APP mutation. Subjects Affected and non-affected carriers of the Arctic APP mutation from the Swedish and American families were investigated clinically. In addition, one brain from each family was investigated neuropathologically. Results The clinical picture, with age at disease onset in the sixth to seventh decade of life and dysfunction in multiple cognitive areas, is indicative of AD and similar to the phenotype for other AD APP mutations. Several affected mutation carriers displayed general brain atrophy and reduced blood flow of the parietal lobe, as demonstrated by magnetic resonance imaging and single photon emission computed tomography. One Swedish and one American case with the Arctic APP mutation have come to autopsy, neither of which showed any signs of haemorrhage but revealed severe congophilic angiopathy, region-specific neurofibrillary tangle pathology as well as abundant amyloid plaques. Intriguingly, a majority of plaques from both of these cases had a characteristic ring-like character. Conclusions Overall, our findings corroborate that the Arctic APP mutation causes a clinical and neuropathological picture compatible with AD. PMID:18413473

Basun, Hans; Bogdanovic, Nenad; Ingelsson, Martin; Almkvist, Ove; Naslund, Jan; Axelman, Karin; Bird, Thomas D.; Nochlin, David; Schellenberg, Gerard D.; Wahlund, Lars-Olof; Lannfelt, Lars

2009-01-01

245

Clinical Features and Types of Von Willebrand Disease in Women with Menorrhagia Referred to Hematology Clinic of Kermanshah  

PubMed Central

Menorrhagia is the most common symptom that is experienced by women with bleeding disorders. Von Willebrand disease (VWD) is the most common congenital human bleeding disorder that is manifested as a quantitative deficiency in Von Willebrand factor (VWF) or dysfunction of this factor. The frequency of VWD is similar in both men and women. However, VWD is more readily detected in women due to the presence of severe bleeding associated with menstrual cycles and childbirth. The present study was carried out to find the frequency of VWD, its types, and clinical features of the disease among women with menorrhagia who referred to the Hematology Clinic of the Kermanshah University of Medical Sciences. The study comprised 482 women with menorrhagia. After excluding patients with confounding factors, 56 (11.6%) patients were evaluated for inherited bleeding disorders. We detected 31 (55.3%) patients with VWD. Type 3 of VWD was the most frequent subtype (45.2%) followed in frequency by type 2 (32.3%), and type 1 (22.5%). In conclusion, our study indicated that menorrhagia can be the first symptom of VWD. Therefore, rare coagulation disorders should be considered in women with idiopathic menorrhagia, particularly in regions with high rates of consanguinity. PMID:24505520

Payandeh, Mehrdad; Rahimi, Zohreh; Kansestani, Atefeh Nasir; Hemmati, Shahrooz; Aleyasin, Mahnaz; Zare, Mohammad Erfan; Nouri, Zohreh; Hashemian, Amir Hossein; Gohardehi, Farzad

2013-01-01

246

Primary vs. Secondary Antibody Deficiency: Clinical Features and Infection Outcomes of Immunoglobulin Replacement  

PubMed Central

Secondary antibody deficiency can occur as a result of haematological malignancies or certain medications, but not much is known about the clinical and immunological features of this group of patients as a whole. Here we describe a cohort of 167 patients with primary or secondary antibody deficiencies on immunoglobulin (Ig)-replacement treatment. The demographics, causes of immunodeficiency, diagnostic delay, clinical and laboratory features, and infection frequency were analysed retrospectively. Chemotherapy for B cell lymphoma and the use of Rituximab, corticosteroids or immunosuppressive medications were the most common causes of secondary antibody deficiency in this cohort. There was no difference in diagnostic delay or bronchiectasis between primary and secondary antibody deficiency patients, and both groups experienced disorders associated with immune dysregulation. Secondary antibody deficiency patients had similar baseline levels of serum IgG, but higher IgM and IgA, and a higher frequency of switched memory B cells than primary antibody deficiency patients. Serious and non-serious infections before and after Ig-replacement were also compared in both groups. Although secondary antibody deficiency patients had more serious infections before initiation of Ig-replacement, treatment resulted in a significant reduction of serious and non-serious infections in both primary and secondary antibody deficiency patients. Patients with secondary antibody deficiency experience similar delays in diagnosis as primary antibody deficiency patients and can also benefit from immunoglobulin-replacement treatment. PMID:24971644

Duraisingham, Sai S.; Buckland, Matthew; Dempster, John; Lorenzo, Lorena; Grigoriadou, Sofia; Longhurst, Hilary J.

2014-01-01

247

Clinical features, survival and prognostic factors of primary testicular diffuse large B-cell lymphoma  

PubMed Central

Objective To assess the clinical features, survival and prognostic factors of primary testicular diffuse large B-cell lymphoma (DLBCL). Methods A retrospective study of 37 patients with primary testicular DLBCL was carried out from November 2003 to May 2012. Their clinical features, survival and prognostic factors were analyzed. Results During a median follow-up period of 39.8 months (5.4-93.0 months), the median progression-free survival (PFS) was 26.2 months (95% CI: 0-65 months) and the 3-year overall survival (OS) rate was 78.4%. Within the whole cohort, the factors significantly associated with a superior PFS were limited stage (stage I/II), lactate dehydrogenase (LDH) ?245 U/L, international prognostic index (IPI) ?1, primary tumor diameter <7.5 cm, and patients who had complete response (CR) and received doxorubicin-contained chemotherapy (P<0.05). There was a trend toward superior outcome for patients who received combined therapy (surgery/chemotherapy/radiotherapy) (P=0.055). Patients who had CR, primary tumor diameter <7.5 cm and IPI score ?1 were significantly associated with longer PFS at multivariate analysis. Conclusions Primary testicular DLBCL had poorer survival. CR, primary tumor diameter and IPI were independent prognostic factors. The combined therapy of orchectomy, doxorubicin-contained chemotherapy and contralateral testicular radiotherapy (RT) seemed to improve survival.

Jia, Bo; Shi, Yuankai; Dong, Mei; Feng, Fengyi; Yang, Sheng; Lin, Hua; Zhou, Liqiang; Zhou, Shengyu; Chen, Shanshan; Yang, Jianliang; Liu, Peng; Qin, Yan; Zhang, Changgong; Gui, Lin; Wang, Lin; Wang, Xue

2014-01-01

248

Clinical features of axillary osmidrosis: a retrospective chart review of 723 Japanese patients.  

PubMed

Axillary osmidrosis often disturbs a person's social life, particularly in Asian countries. However, the clinical aspects of this condition have not been well documented in the English-language published work. This study aimed to provide information on the features of axillary osmidrosis, with a particular focus on sex differences. A retrospective review was made of the charts for 723 Japanese patients (492 female, 231 male). The mean age at initial presentation (29.1 years) was nearly the same for males and females. Almost all patients (96.1%) had wet earwax, which was extremely high compared to its frequency in the general Japanese population. An association with hyperhidrosis was seen in 61.8% of these patients. Subjective odor levels in female patients were significantly lower than those in males (P < 0.001). A positive family history was more frequent for females than for males (P < 0.001), and prior treatment history was also more frequent for females than for males (P < 0.015). Most patients (86.6%) had received some treatments in our clinic. There were significantly fewer females who underwent surgical treatments compared to males (P = 0.026), as females preferred less invasive techniques (P < 0.001). Several features, including male/female ratios, and associations of wet earwax and hyperhidrosis, corresponded to previously reported data on axillary osmidrosis. Female patients were more concerned with axillary odor than males, and females had a tendency for polysurgery. PMID:23451913

Morioka, Daichi; Ohkubo, Fumio; Amikura, Yoshiyasu

2013-05-01

249

Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome.  

PubMed

Coffin-Siris syndrome (OMIM#135900) is a multiple congenital anomaly syndrome classically characterized by hypo- or aplasia of the fifth digit nails or phalanges, as well as coarse facial features, sparse scalp hair, and moderate to severe cognitive and/or developmental delay. The recent identification of molecular etiologies has served to effectively characterize a large set of patients who have been described with Coffin-Siris between the time of its initial description and the present. However, despite recent advances, a number of patients who traditionally fit the diagnosis have yet to have identified causes. This could be due to patients who lie outside the defined phenotype, or alternatively, to additional as yet unidentified genes which may play roles. Here we outline the range of clinical features described in the broader diagnostic category, review the continuing phenotypic challenges and note those subsets of patients for whom molecular causes have yet to be clarified. Finally, we discuss recommendations for clinical management of these individuals. PMID:25169447

Vergano, Samantha S; Deardorff, Matthew A

2014-09-01

250

Clinical, cytologic, and histologic features of a mammary micropapillary carcinoma in a dog.  

PubMed

Mammary invasive micropapillary carcinoma is a rare variant of mammary carcinoma that was recently recognized in dogs. The cytologic features and biologic behavior of such neoplasms in dogs have not yet been widely discussed in the veterinary literature. We report the clinical, cytologic, and histologic features of a canine micropapillary carcinoma in a 13-year-old female mongrel dog. The mammary region presented with extreme local pain, severe edema and erythema, and multifocal epidermal ulceration, which is typical for an inflammatory mammary carcinoma. Fine-needle aspirates were highly cellular and consisted of individual cells and papillary cell clusters with characteristics of malignant epithelial cells. Histologic examination revealed neoplastic cells arranged in small papillae without fibrovascular cores, sometimes inside clear lymphatic spaces, indicating lymphovascular invasion. Regional lymph node evaluation revealed metastatic cells. Due to deteriorating clinical condition the dog was euthanatized 5 months after mastectomy. At necropsy, metastatic neoplastic mammary cells were found in popliteal and mediastinal lymph nodes, the right femoral biceps muscle, liver, heart, lungs, and urinary bladder. PMID:23919629

Salgado, Breno S; Monteiro, Lidianne N; Colodel, Márcia M; Figueiroa, Fernanda C; Soares, Luisa M; Nonogaki, Suely; Rocha, Rafael M; Rocha, Noeme S

2013-09-01

251

Clinical and computed tomography features of adult abdominopelvic desmoplastic small round cell tumor  

PubMed Central

To investigate the clinical and computed tomography (CT) features of desmoplastic small round cell tumor (DSRCT), we retrospectively analyzed the clinical presentations, treatment and outcome, as well as CT manifestations of four cases of DSRCT confirmed by surgery and pathology. The CT manifestations of DSRCT were as follows: (1) multiple soft-tissue masses or diffuse peritoneal thickening in the abdomen and pelvis, with the dominant mass usually located in the pelvic cavity; (2) masses without an apparent organ-based primary site; (3) mild to moderate homogeneous or heterogeneous enhancement in solid area on enhanced CT; and (4) secondary manifestations, such as ascites, hepatic metastases, lymphadenopathy, hydronephrosis and hydroureter. The prognosis and overall survival rates were generally poor. Commonly used treatment strategies including aggressive tumor resection, polychemotherapy, and radiotherapy, showed various therapeutic effects. CT of DSRCT shows characteristic features that are helpful in diagnosis. Early discovery and complete resection, coupled with postoperative adjuvant chemotherapy, are important for prognosis of DSRCT. Whole abdominopelvic rather than locoregional radiotherapy is more effective for unresectable DSRCT. PMID:24803835

Shen, Xun-Ze; Zhao, Jian-Guo; Wu, Jian-Jun; Liu, Fang

2014-01-01

252

Frequency and clinical features of patients who attempted suicide by Hara-Kiri in Japan.  

PubMed

Hara-kiri is a unique Japanese custom, primarily stemming from the manners and customs that a samurai held. The aim of the present study was to investigate the clinical features of individuals who attempted suicide by hara-kiri. We enrolled 647 patients who had attempted suicide. Clinical features were compared between those who had employed hara-kiri and those who had used other methods. 25 of the 647 subjects had attempted suicide by hara-kiri. The ratio of men to women and the proportion of patients with mood disorders were significantly higher in the hara-kiri group than in the other methods group. The average length of stay in either the hospital or in the intensive care unit was also longer in the hara-kiri group than in the other methods group. Hara-kiri is an original Japanese method of attempting suicide, and suicide attempts by hara-kiri may be aimed at maintaining a reputation or taking responsibility. PMID:25077671

Kato, Koji; Kimoto, Keitaro; Kimoto, Kousuke; Takahashi, Yuki; Sato, Reiko; Matsumoto, Hideo

2014-09-01

253

Demographic and clinical features of gout patients in Turkey: a multicenter study.  

PubMed

Gout results from multifactor interactions between gender, age, genetic and environmental factors. Environmental factors underlying gout and precipitating factors triggering acute attacks might vary in different populations with different lifestyles. In this study, we aimed to collect data regarding the demographic and clinical features, comorbid factors, and precipitating factors associated with the initiation of acute attacks in gout patients in Turkey. A total of 312 patients were included in this study (mean age, 58.8 ± 13.8 years; female/male ratio, 55/257). The demographic features, alcohol intake, clinical and laboratory features, and comorbid conditions including obesity, diabetes mellitus, hyperlipidemia, hypertension, and coronary heart disease were noted in a standard questionnaire. Precipitating factors initiating acute attacks (if any) were also noted. The patients were divided into 4 groups according to the region of location as central Anatolian region, southeast Anatolian region, Aegean region, and Trakya region. Our results were compared according to the gender and the location of the patients. The mean age at the start of the symptoms was 10 years higher in women (60.4 ± 14.8 and 50.6 ± 13.5 years in women and men, respectively, p < 0.001).Obesity was present in 40.1 %, diabetes mellitus in 17.9 %, hyperlipidemia in 30.1 %, hypertension in 53.5 %, coronary artery disease in 17 %, and nephrolithiasis in 21.8 % of patients. Precipitating factors triggering gout flares were as follows: diet (high consumption of meat or fish) in 46.5 %, alcohol consumption in 15.7 %, diuretics in 8.3 %, diet or diuretics in 5.1 %, diet or alcohol in 4.5 %, diet or alcohol or diuretics in 1.6 %, others in 4.2 %, and none in 14.1 %. The presence of diabetes and diuretic use was more common among women. Use of diuretics is a more common trigger for gout flares among women. On the other hand, various comorbid conditions, such as obesity and hypertension, and triggers for gout flares may differ between patients living in different geographic regions. In summary, we reported the first data regarding clinical and demographic characteristics of gout in Turkey. The majority of our patients could describe at least one "trigger" that initiated gout flare. Both comorbid conditions and triggers of attack might differ between men and women, and in different geographic areas. Better knowledge of the modifiable risk factors can be useful for the management strategy to optimize long-term patient outcomes in local clinics. PMID:22588430

Öztürk, Mehmet Akif; Kaya, Arif; ?enel, Soner; Dönmez, Salim; Balkarl?, Ay?e; Çobankara, Veli; Erhan, Çi?dem; Sayarl?o?lu, Mehmet; Ugan, Yunus; Tunç, ? Ercan; Pehlivan, Yavuz; K?sac?k, Bünyamin; Tufan, Abdurrahman; Onat, Ahmet Mesut; Tezcan, Engin; Y?ld?r?m Çetin, Gözde; Pamuk, Omer Nuri

2013-04-01

254

Comparison of clinical features, molecular alterations, and prognosis in morphological subgroups of lung invasive mucinous adenocarcinoma  

PubMed Central

Purpose We performed this analysis to distinguish the differences in two subtypes of lung invasive mucinous adenocarcinoma (IMA) with different kinds of morphological performances, in clinicopathological and molecular features, as well as prognosis. Methods On the basis of morphological performance, we divided lung IMAs into two subgroups, mucus-in-cell adenocarcinoma (MICA) and mucus-out-of-cell adenocarcinoma (MOCA). We investigated differences in clinicopathological characteristics, recurrence-free survival (RFS), overall survival (OS), and a spectrum of well-identified driver-gene mutations, including EGFR, KRAS, HER2, BRAF, ALK, ROS1, and RET, between the two subgroups. Results Of 1,699 lung adenocarcinomas, 148 were identified as IMAs (97 MICAs and 51 MOCAs). The MICA patient group had significantly better RFS than did the MOCA group (39.4 months versus 33.0 months, respectively, log rank P=0.020) and significantly better OS (54.2 months versus 45.1 months, log rank P=0.034). There were no differences in RFS and OS between those with IMAs and those with mucus-negative adenocarcinomas. The frequency of the EGFR gene mutation was significantly higher in MOCAs than in MICAs (P<0.001). In contrast, the KRAS gene had a significantly higher mutational frequency in MICAs (P=0.01). MOCAs also had a significantly higher incidence of lymph-node metastasis (P<0.05). Conclusion To our knowledge, this study represents the first comparison of clinical features, molecular alterations, and prognosis in morphological subgroups of lung IMAs. Clinical and pathological features in conjunction with molecular data indicate that IMA should be divided into different subgroups.

Cai, Deng; Li, Hang; Wang, Rui; Li, Yuan; Pan, Yunjian; Hu, Haichuan; Zhang, Yang; Gong, Ranxia; Pan, Bin; Sun, Yihua; Chen, Haiquan

2014-01-01

255

Clinical features and outcomes of focal segmental glomerulosclerosis pathologic variants in Korean adult patients  

PubMed Central

Background Many studies have shown that clinical characteristics and outcomes differ depending on pathologic variants of focal segmental glomerulosclerosis (FSGS). However, these are not well defined in Asian populations. Methods This retrospective study evaluated clinical features and outcomes of pathologic FSGS variants in 111 adult patients between January 2004 and December 2012. Primary outcome was the composite of doubling of baseline serum creatinine concentrations (D-SCr) or onset of end-stage renal disease (ESRD). Secondary outcome included complete (CR) or partial remission (PR). Results There were 70 (63.1%), 20 (18.0%), 17 (15.3%), 3 (2.7%), and 1 (0.9%) patients with not-otherwise specified (NOS), tip, perihilar, cellular, and collapsing variants, respectively. At presentation, nephrotic-range proteinuria occurred more commonly in tip lesion than in other variants. The overall 5-year renal survival rate was 76.8%. During a median follow-up of 34.5 months, only 1 (5.0%) patient with a tip lesion reached the composite end point compared to 2 (11.8%) and 12 (17.1%) patients in perihilar and NOS variants, but this difference was not statistically significant in an adjusted Cox model. However, tip lesion was associated with a significantly increased probability of achieving CR (P?=?0.044). Conclusion Similar to other populations, Korean adult patients with FSGS have distinct clinical features with the exception of a rare frequency of cellular and collapsing variants. Although pathologic variants were not associated with overall outcome, the tip variant exhibited favorable outcome in terms of achieving remission. Further studies are required to delineate long-term outcome and response to treatment of the pathologic variants. PMID:24666814

2014-01-01

256

Clinical Features and Risk Factors for Atazanavir (ATV)-Associated Urolithiasis: A Case-Control Study  

PubMed Central

Objectives Clinical features and risk factors for atazanavir (ATV)-associated urolithiasis have not been fully investigated. Methods We reviewed all cases of ATV-containing urolithiasis identified by infrared spectrophotometry among HIV-infected patients over a 5-year period to describe their clinical features and outcome. A case-control study was performed to identify risk factors associated with ATV-associated urolithiasis using univariate and multivariate logistic regression analyses. Results 30 cases of ATV-associated urolithiasis were analyzed. Patients were mostly men (87%), median age: 45.5 years, median CD4 cell count: 443 cells/µL and 97% had plasma HIV RNA level <50 cp/mL. Median time between the initiation of ATV-containing regimen and the diagnosis of urolithiasis was 3.1 years. Patients presented with flank pain in 90% and macroscopic hematuria in 82.6%, 34% had renal dysfunction and 44.8% needed ureteroscopic treatment. In univariate analysis, chronic hepatitis C, a history of urolithiasis, prior use of indinavir, ATV duration, undetectable plasma HIV RNA, use of ritonavir as a booster and serum free bilirubin level were associated with ATV-urolithiasis. Multivariate models retained serum free bilirubin level (OR: 2.31, p<0.02) and either ATV duration (OR: ?=?1.42, p?=?<0.03) or a history of urolithiasis (OR?=?4.79, p<0.02) when adjusting on serum free bilirubin level as risk factors associated with urolithiasis. Conclusions ATV-containing urolithiasis are associated with frank clinical symptoms and may require surgical intervention. A high serum bilirubin level, a long exposure to ATV and a history of urolithiasis are risk factors for this rare adverse event. PMID:25409506

Lafaurie, Matthieu; De Sousa, Barbara; Ponscarme, Diane; Lapidus, Nathanael; Daudon, Michel; Weiss, Laurence; Rioux, Christophe; Fourn, Erwan; Katlama, Christine; Molina, Jean-Michel

2014-01-01

257

Overlap of clinical features of Smith-Magenis & Down Syndrome in newborns and infants  

SciTech Connect

Smith-Magenis Syndrome (SMS) frequently goes unrecognized in newborns and infants as these patients do not yet demonstrate the characteristic behavioral phenotype and may only present with developmental delay and physical dysmorphism. Six of Hall`s ten cardinal features of trisomy 21 in the newborn are also frequently found in newborns with SMS, leading to an early presumptive diagnosis of DS in many of these patients. CASE No. 1: Based on clinical findings, a presumptive diagnosis of DS was given to the patient in the newborn period. Chromosome analysis of peripheral blood revealed a normal 46,XX karyotype. Given this result, the possibility of mosaic DS was raised, and a skin fibroblast study done. Again, the karyotype was reported as normal. Clinical features and cytogenetic analysis confirmed a diagnosis of SMS when the patient was 8 years old. CASE No. 2: A presumptive diagnosis of DS was made in an infant with hypotonia, facial dysmorphisms and congenital heart defects. A routine chromosome analysis was ordered, which revealed a 46,XY,del(17)(p11.2p11.2) karyotype. Indeed, approximately 38% of blood samples referred to our laboratory to rule out DS in an infant failed to demonstrate trisomy for chromosome 21. Given the high degree of clinical overlap with Down Syndrome, the diagnosis of SMS should be considered in all such patients. Additional analysis should be done to look for deletion 17p11.2 when faced with a {open_quotes}normal{close_quotes} karyotype in an infant referred to rule out DS.

Thomson, K.A.; Finucane, B.M.; Bauer, M.S. [Integrated Genetics, West Paterson, NJ (United States)] [and others

1994-09-01

258

Pediatric congenital bilateral perisylvian syndrome: clinical and MRI features in 12 patients.  

PubMed

In 1926, Foix, Chavany and Marie described an acquired syndrome of fasciopharyngoglossomasticatory diplegia resulting from bilateral infarction of the anterior operculum. Clinical features consisted of facial diplegia, dysarthria, pseudobulbar palsy, mild to severe mental retardation, and seizures. A developmental form, similar in presentation in adults with MRI findings consisting of bilateral perisylvian cortical malformation consistent with polymicrogyria involving the sylvian fissure and opercular cortex, has been recognized; but few pediatric cases of congenital bilateral perisylvian syndrome (CBPS) have been reported. Over the past four years, we have encountered 12 cases of CBPS presenting in childhood. Age ranges were from 1 week to 11 years with a median of 2.25 years; six were less than two years of age. Seven were male and five female. Ten had bilateral perisylvian polymicrogyria on MRI; two had unilateral perisylvian schizencephaly with contralateral perisylvian polymicrogyria. Clinical manifestations included developmental delay in 7; poor palatal function in 5; hypotonia in 4; arthrogryposis in 4; hemiparesis in 3; apnea in 3; paraparesis in 2; micrognathia in 2; pectus excavatum in 2; quadriparesis in 1; and hearing loss in 1. Seizures occurred in seven (58%) and consisted of infantile spasms (n = 1), generalized tonic-clonic (n = 1), complex partial (n = 2), partial motor (n = 2; 1 with secondary generalization), and febrile convulsions (n = 1). CBPS has different manifestations in the pediatric population than in adults. CBPS is more common than previously thought, is recognizable by MRI and should be suspected clinically in any infant or child presenting with oromotor dysfunction/pseudobulbar signs and developmental delay, especially if there are associated congenital malformations. Epilepsy is not a constant feature in the pediatric presentation and is variable in type and severity. PMID:9309709

Gropman, A L; Barkovich, A J; Vezina, L G; Conry, J A; Dubovsky, E C; Packer, R J

1997-08-01

259

Experimental staphylococcal mastitis in bitches: clinical, bacteriological, cytological, haematological and pathological features.  

PubMed

The objectives of the work were to study the features of experimentally induced canine mastitis and to present hypotheses regarding the pathogenesis of the disease. The right caudal abdominal mammary gland of six bitches was inoculated on day 8 after whelping with Staphylococcus intermedius to induce mastitis; adjacent mammary glands were used as controls. Clinical examination, bacteriological and cytological (whiteside test, Giemsa) examination of mammary secretion, as well as haematological tests were performed from 5 days before until 34 days after challenge. Mastectomy was sequentially performed 1, 2, 4, 18, 26 and 34 days after challenge in each of the bitches, in order to carry out a pathological examination of mammary glands. All animals developed clinical mastitis: challenged glands became painful, hot, enlarged and oedematous; secretion was brownish, purulent, with flakes or clots, subsequently becoming yellowish and thick. Staphylococci were isolated from all inoculated glands (up to 22 days). WST was positive in 41/46 samples from inoculated glands and 66/138 samples from control glands; neutrophils predominated during the acute stage. Blood leukocyte counts increased, whilst platelet counts decreased. Gross pathological findings initially included congestion, purulent discharge and subcutaneous oedema; then abscesses, brownish areas and size decrease were seen. Salient histopathological features were initially neutrophilic infiltration, haemorrhages, destruction of mammary epithelial cells and alveoli, and then infiltration by lymphocytes, shrunken alveoli, loss of glandular architecture and fibrous tissue proliferation. We conclude that in bitches, intrammamary inoculation of Staphylococcus intermedius can induce clinical mastitis, followed by subclinical disease. The disorder is characterized by bacterial isolation and leukocyte influx in challenged glands, by leukocyte presence in adjacent mammary glands, by increased blood leukocyte counts and by destruction of mammary parenchyma. PMID:17481831

Ververidis, H N; Mavrogianni, V S; Fragkou, I A; Orfanou, D C; Gougoulis, D A; Tzivara, A; Gouletsou, P G; Athanasiou, L; Boscos, C M; Fthenakis, G C

2007-09-20

260

The clinical features of foreign body aspiration into the lower airway in geriatric patients  

PubMed Central

Purpose To analyze the clinical features of foreign-body aspiration into the lower airway in geriatric patients. Patients and methods The clinical data of 17 geriatric patients with foreign-body aspiration were retrospectively analyzed and compared with 26 nongeriatric adult patients. The data were collected from Peking University First Hospital and Anhui Chest Hospital between January 2000 and June 2014. Results (1) In the geriatric group, the most common symptoms were cough and sputum (15 cases, 88%), dyspnea (six cases, 35%), and hemoptysis (four cases, 24%). Five patients (29%) in the geriatric group could supply the history of aspiration on their first visit to doctor, a smaller percentage than in the nongeriatric group (13 cases, 50%). Only three cases in the geriatric group were diagnosed definitely without delay. Another 14 cases were misdiagnosed as pneumonia or lung cancer, and the time of delayed diagnosis ranged from 1 month to 3 years. Complications due to delay in diagnosis included obstructive pneumonitis, atelectasis, lung abscess, and pleural effusion. (2) Chest computed tomography demonstrated the foreign body in three cases (21%) in the geriatric group, which was lower than the positive proportion of detection in the nongeriatric group (nine cases, 35%). The most common type of foreign body in the geriatric group was food, such as bone fragments (seven cases, 41%) and plants (seven cases, 41%), and the foreign body was most often lodged in the right bronchus tree (eleven cases, 65%), especially the right lower bronchus (seven cases, 41%). Flexible bronchoscopy removed the foreign body successfully in all patients. Conclusion The clinical features of foreign-body aspiration in geriatric patients are usually more obscure than in nongeriatric adults, which may lead to long delay in diagnosis. Flexible bronchoscopy is safe and useful for early diagnosis and effective management in geriatric patients. We suggest flexible bronchoscopy as the first-line approach to similar patients, especially those with aspiration history and unexplained pneumonia. PMID:25284994

Lin, Lianjun; Lv, Liping; Wang, Yuchuan; Zha, Xiankui; Tang, Fei; Liu, Xinmin

2014-01-01

261

Clinical Features: Permanent neonatal diabetes: Neonatal diabetes is hyperglycemia that presents at 0-6 months of age  

E-print Network

and require insulin treatment throughout life. PNDM does not include autoimmune diabetes that almost never from insulin treatment to oral sulfonylureas (5, 6). Inheritance: Permanent neonatal diabetes: KCNJ111/13 Clinical Features: Permanent neonatal diabetes: Neonatal diabetes is hyperglycemia

Das, Soma

262

MMP-11 and VEGF-C expression correlate with clinical features of colorectal adenocarcinoma  

PubMed Central

Colorectal cancer is one of the most common types of cancer and has a high mortality rate, making accurate prediction of clinical prognosis an important concern. This study sought to investigate the expression of two proteins, MMP-11 and VEGF-C, in colorectal adenocarcinoma tissues to provide options for better tumor detection. The correlation of the expression of these proteins with the clinical and pathological features of colorectal adenocarcinoma and with the invasion and metastasis of colorectal adenocarcinoma were assessed. Immunohistochemistry with light microscopy was used to detect the expression level of MMP-11 and VEGF-C in 78 samples of colorectal adenocarcinoma tissues and in 20 samples of normal colorectal tissues. Expression of MMP-11 in colorectal adenocarcinoma tissues and normal colorectal tissues was detected in 55.1% and 30.0% of samples, respectively; VEGF-C was detected in 78.2% and 15.0% of samples, respectively. The expression of MMP-11 and VEGF-C in colorectal adenocarcinoma tissues were not related to patient age, sex, or tumor location. However, expression was related to Dukes’ staging and lymph node metastasis. Expression of MMP-11 was correlated with distant metastasis from tumors. Lastly, expression of MMP-11 in colorectal adenocarcinoma was positively correlated with VEGF-C. In brief, expression of MMP-11 and VEGF-C in colorectal adenocarcinoma tissues serves as a significant index for evaluating the degree of malignancy, clinical stages, lymph nodes, and distant metastasis of colorectal adenocarcinoma. The detection of both of these proteins may help predict the infiltration, metastasis, and prognosis of colorectal adenocarcinoma, and potentially offers new targets for clinical treatment. PMID:25356153

Xu, Chun-Jin; Xu, Feng

2014-01-01

263

Juvenile-Onset OCD: Clinical Features in Children, Adolescents and Adults  

PubMed Central

Objective To examine clinical correlates of juvenile-onset OCD across the lifespan. Method Intake data collected from 257 consecutive participants with a juvenile-onset of OCD (20 children, 44 adolescents, and 193 adults) in a naturalistic study of the clinical course of OCD were examined. Participants and parents of juvenile participants completed a structured diagnostic interview, rater-administered severity measures, and self-report questionnaires. Results Children and adolescents (i.e. juveniles) shared similar features with the exception of age at onset and OCD symptom expression. Clinically meaningful differences between juvenile and adult participants were also found. Compared to adults, juveniles were more likely to be male, recall an earlier age at OCD onset, and have different lifetime comorbidity patterns. Conclusion Juvenile-onset OCD symptom expression is remarkably similar across the lifespan. However, findings also suggest clinically meaningful differences between juveniles and adults. Future work using a prospective design will improve our understanding of course patterns of juvenile-onset OCD. Significant Outcomes •Children were less likely than either adolescent or adults to report aggressive obsessions and mental rituals. •Males were overrepresented in the juvenile sample but gender was equally distributed in the adult sample •Compared to lifetime comorbidity patterns of adults, juveniles showed elevated rates of ADHD and lower rates of mood, substance use and eating disorders Limitations •The cross-sectional design with retrospective recall regarding course prior to study entry limits conclusions about the course of OCD. •The adult sample is limited to adults whose symptoms persisted into adulthood and therefore results cannot be generalized to all individuals with a juvenile-onset. •The small number of very young children (under age 10) may have limited power to detect differences among children and adolescents. PMID:18699949

Mancebo, Maria C.; Garcia, Abbe M.; Pinto, Anthony; Freeman, Jennifer B.; Przeworski, Amy; Stout, Robert; Kane, Joshua S.; Eisen, Jane L.; Rasmussen, Steven A.

2009-01-01

264

Carpet Lesions Detected at CT Colonography: Clinical, Imaging, and Pathologic Features  

PubMed Central

Purpose To describe carpet lesions (laterally spreading tumors ? 3 cm) detected at computed tomographic (CT) colonography, including their clinical, imaging, and pathologic features. Materials and Methods The imaging reports for 9152 consecutive adults under-going initial CT colonography at a tertiary center were reviewed in this HIPAA-compliant, institutional review board–approved retrospective study to identify all potential carpet lesions detected at CT colonography. Carpet lesions were defined as morphologically flat, laterally spreading tumors 3 cm or larger. For those patients with neoplastic carpet lesions, CT colonography studies were analyzed to determine maximal lesion width and height, oral contrast material coating, segmental location, and computer-aided detection (CAD) findings. Demographic data and details of clinical treatment in these patients were reviewed. Results Eighteen carpet lesions in 18 patients (0.2%; mean age, 67.1 years; eight men, 10 women) were identified and were subsequently confirmed at colonoscopy and pathologic examination among 20 potential flat masses (?3 cm) prospectively identified at CT colonography (there were two nonneoplastic rectal false-positive findings). No additional neoplastic carpet lesions were found in the cohort undergoing colonoscopy after CT colonography and/or surgery (there were no false-negatives). Mean lesion width was 46.5 mm (range, 30–80 mm); mean lesion height was 7.9 mm (range, 4–14 mm). Surface retention of oral contrast material was noted in all 18 cases. All but two lesions were located in the distal rectosigmoid or proximal right colon. At CAD, 17 (94.4%) lesions were detected (mean, 6.2 CAD marks per lesion). Sixteen lesions (88.9%) demonstrated advanced histologic features, including a villous component (n = 11), high-grade dysplasia (n = 4), and invasive cancer (n = 5). Sixteen patients (88.9%) required surgical treatment for complete excision. Conclusion CT colonography can effectively depict carpet lesions. Common features in this series included older patient age, rectal or cecal location, surface coating with oral contrast material, multiple CAD hits, advanced yet typically benign histologic features, and surgical treatment. PMID:24029647

Pickhardt, Perry J.; Lam, Vu P.; Weiss, Jennifer M.; Kennedy, Gregory D.; Kim, David H.

2014-01-01

265

Clinical Features: Patients with Cornelia de Lange syndrome (CdLS) [OMIM #122470] have characteristic facial features, growth  

E-print Network

reported. Many demonstrate autistic or self-destructive behaviors. Other features include heart defects reported; recurrence risk for unaffected parents of an isolated case is approximately 1-5%. Recurrence risk for affected individuals and carrier parents is 50% [1]. Additional Resources: Cornelia de Lange Syndrome

Ober, Carole

266

Clinical Features, Molecular Genetics, and Inheritance: Dilated cardiomyopathy (DCM) is a severe disease of heart muscle characterized by progressive  

E-print Network

clinical features in childhood that are associated with premature aging. Such features may include hair, age- related atrioventricular cardiac conduction disturbances, and the absence of early contractures. Mutations of the LMNA gene are the basis of LGMD1B (4). Hutchinson-Gilford progeria syndrome (HGPS

Das, Soma

267

Geographical, clinical, clinicopathological and radiographic features of canine angiostrongylosis in Irish dogs: a retrospective study  

PubMed Central

Background Angiostrongylus vasorum infection is associated with high morbidity and mortality in dogs. Although recognised in Ireland, there are no large series of cases reported. The aim of this retrospective study was to identify pertinent clinical and geographical features in Irish dogs. Results The case records of dogs presenting to the University College Dublin Veterinary Hospital (1999-2010) were reviewed. A contemporaneous review of external faecal parasitology and post mortem submissions was also performed. A positive diagnosis of angiostrogylosis was identified in 49 dogs including 24 clinical, 10 post mortem and 15 external faecal sample cases. The majority (n = 44 (90%)) resided on the East Coast. In the clinical cases, the median age was 20 months, 29% of cases were older than 2 years. Clinical features included cardiorespiratory (63%), coagulopathic (71%) and other (63%) signs. Cough (n = 10), dyspnoea (n = 5) and tachypnoea (n = 3) were the most common cardiorespiratory abnormalities. Of animals with evidence of coagulopathy, excessive haemorrhage from a wound (n = 5), airway haemorrhage (n = 9), epistaxis (n = 3), haematoma (n = 4), suspected haemarthrosis (n = 3), neurological signs (n = 2) and haematuria (n = 1) were found. Ten dogs were anaemic, of which two were severe (haematocrit ? 0.20 L/L). Ten animals had thrombocytopenia, with four severely affected (?50 × 109/L). PT and APTT values were prolonged in 4 (24%) of 17 and a BMBT was prolonged in 5 (63%) of 8 cases. Vague signs of exercise intolerance (n = 6), lethargy (n = 6) and weakness (n = 2) were identified, with two (8%) animals having only these signs. In one animal the diagnosis appeared to be incidental. Thoracic radiographs (n = 19) identified abnormalities in 100% of cases. Four (17%) animals died before or within 24 hours of treatment and post mortem examinations confirmed angiostrongylosis. Fenbendazole was administered in 19 cases, 18 (95%) recovered. Two animals were euthanised, one which failed to respond to therapy and another in which an ante mortem diagnosis had not been made. Conclusions Angiostrongylosis is not uncommon in Ireland, is not confined to young dogs or the East Coast and can present with a wide variety of signs, particularly coagulopathic, respiratory or neurological signs. PMID:22433388

2012-01-01

268

Primary cutaneous B-cell lymphomas: part I. Clinical features, diagnosis, and classification.  

PubMed

Primary cutaneous B-cell lymphomas (PCBCLs) are defined as lymphomas with a B-cell phenotype that present in the skin without evidence of systemic or extracutaneous disease at initial presentation, after adequate staging. In non-Hodgkin lymphomas, the skin is the second most common site of extranodal involvement after the gastrointestinal tract. PCBCLs are histologically very similar to their nodal counterparts, and these histologic similarities can lead to confusion about both therapy and prognosis. This article will summarize the clinical, pathologic, and diagnostic features of the 3 main types of PCBCL: primary cutaneous follicle center lymphoma, primary cutaneous marginal zone lymphoma, and primary cutaneous diffuse large B-cell lymphoma, leg-type, and the appropriate evaluation and staging procedures for each of these entities. PMID:23957984

Suárez, Andrea Luísa; Pulitzer, Melissa; Horwitz, Steven; Moskowitz, Alison; Querfeld, Christiane; Myskowski, Patricia L

2013-09-01

269

Clinical Features of Adult Patients with Acute Hepatitis B Virus Infection Progressing to Chronic Infection  

PubMed Central

Background. Information regarding the progression of acute hepatitis B virus (HBV) infection to chronic infection in adults is scarce. Methods. Twenty-five adult patients with acute HBV infection (14 men and 11 women, 18–84 years old), whose clinical features progressed to those of chronic infection (group A) or did not (group B), were studied retrospectively. Results. There were 3 and 22 patients in groups A and B, respectively. Two of the 3 patients of group A lacked the typical symptoms of acute hepatitis. No differences were found between groups with respect to age, sex, or HBV genotypes. However, total bilirubin and alanine aminotransaminase levels were significantly lower in group A. Conclusions. Three of the 25 adult patients with acute HBV infection progressed to chronic infection. Hepatitis was mild in these patients. Patients with mild acute hepatitis B or unapparent HBV infection may have a higher risk of progressing to chronic infection. PMID:25349743

Michitaka, Kojiro; Hiraoka, Atsushi; Tokumoto, Yoshio; Ninomiya, Keiko; Ninomiya, Tomoyuki; Horiike, Norio

2014-01-01

270

Heterotopic ossification: Pathophysiology, clinical features, and the role of radiotherapy for prophylaxis  

SciTech Connect

Heterotopic ossification (HO) is a benign condition of abnormal formation of bone in soft tissue. HO is frequently asymptomatic, though when it is more severe it typically manifests as decreased range of motion at a nearby joint. HO has been recognized to occur in three distinct contexts-trauma, neurologic injury, and genetic abnormalities. The etiology of HO is incompletely understood. A posited theory is that HO results from the presence of osteoprogenitor cells pathologically induced by an imbalance in local or systemic factors. Individuals at high risk for HO development frequently undergo prophylaxis to prevent HO formation. The two most commonly employed modalities for prophylaxis are nonsteroidal anti-inflammatory drugs and radiation therapy. This review discusses HO pathophysiology, clinical features, and the role of radiotherapy for prophylaxis.

Balboni, Tracy A. [Harvard Radiation Oncology Program, Brigham and Women's Hospital, Boston, MA (United States); Gobezie, Reuben [Department of Orthopedic Surgery, Brigham and Women's Hospital, Boston, MA (United States); Mamon, Harvey J. [Department of Radiation Oncology, Brigham and Women's Hospital, Boston, MA (United States)]. E-mail: hmamon@partners.org

2006-08-01

271

Clinical and electrophysiological features of the 2007 Guillain-Barré syndrome epidemic in northeast China.  

PubMed

Guillain-Barré syndrome (GBS) generally presents sporadically. Epidemics of GBS are unusual. We reviewed the medical records of 26 patients hospitalized for GBS during the 2007 GBS epidemic in northeast China. The objective was to determine whether there were clinical and electrophysiological characteristics. All patients had drunk unboiled water, and the illness was preceded by diarrhea in 19 (73%) patients. Only 1 patient had a Campylobacter jejuni infection, whereas 14 (54%) patients exhibited features of acute motor axonal neuropathy (AMAN). The most common electrophysiological findings in early GBS included decreased compound muscle action potential (CMAP) amplitude (62%), abnormal F waves (73%), and abnormal H reflexes (62%). This epidemic of GBS appears to have been associated with consumption of contaminated water. The main subtype was AMAN, which was associated with a longer duration of illness and a worse prognosis. Electrodiagnostic evaluations are helpful for diagnosis in the primary stages of GBS. PMID:20589890

Ye, Yuqin; Zhu, Dan; Wang, Keren; Wu, Jiang; Feng, Jiachun; Ma, Dihui; Xing, Yingqi; Jiang, Xinmei

2010-09-01

272

Abdominal lymphadenopathy in intravenous drug addicts: sonographic features and clinical significance.  

PubMed

The sonographic features of abdominal lymphadenopathy in 35 patients with history of intravenous drug addiction were analyzed to assess their clinical significance. Of the 28 proven cases, 15 were due to reactive hyperplasia, 10 to infections, and three to neoplasms. Sonography was helpful in assessing the pathologic nature of these nodes. Most nodes attributable to reactive hyperplasia were small (less than or equal to 1.5 cm diam) and showed a characteristic distribution in the porta hepatis, celiac axis, and peripancreatic regions. Hypoechoic nodes were always pathologic, due either to tuberculosis or to neoplasm. Nodes larger than 1.5 cm in diameter and primarily involving the lower retroperitoneum, splenic hilum, and mesentery are highly suspicious for pathologic nodes, and appropriate biopsies are indicated for diagnosis. PMID:3885691

Subramanyam, B R; Balthazar, E J; Horii, S C; Hilton, S

1985-05-01

273

Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review.  

PubMed

Heterozygous loss-of-function SMAD4 mutations are associated with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. Some carriers exhibit symptoms of both conditions, leading to juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome. Three families have been reported with connective tissue abnormalities. To better understand the spectrum and extent of clinical findings in SMAD4 carriers, medical records of 34 patients (20 families) from five clinical practices were reviewed. Twenty-one percent of the patients (7/34) had features suggesting a connective tissue defect: enlarged aortic root (n = 3), aortic and mitral insufficiency (n = 2), aortic dissection (n = 1), retinal detachment (n = 1), brain aneurysms (n = 1), and lax skin and joints (n = 1). Juvenile polyposis-specific findings were almost uniformly present but variable. Ninety-seven percent of the patients had colon polyps that were generally pan-colonic and of variable histology and number. Forty-eight percent of the patients (15/31) had extensive gastric polyposis. Hereditary hemorrhagic telangiectasia features, including epistaxis (19/31, 61%), mucocutaneous telangiectases (15/31, 48%), liver arteriovenous malformation (6/16, 38%), brain arteriovenous malformation (1/26, 4%), pulmonary arteriovenous malformation (9/17, 53%), and intrapulmonary shunting (14/23, 61%), were documented in 76% of the patients. SMAD4 carriers should be managed for juvenile polyposis and hereditary hemorrhagic telangiectasia because symptoms of both conditions are likely yet unpredictable. Connective tissue abnormalities are an emerging component of juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome, and larger studies are needed to understand these manifestations. PMID:24525918

Wain, Karen E; Ellingson, Marissa S; McDonald, Jamie; Gammon, Amanda; Roberts, Maegan; Pichurin, Pavel; Winship, Ingrid; Riegert-Johnson, Douglas L; Weitzel, Jeffrey N; Lindor, Noralane M

2014-08-01

274

Vascular malformations and hemangiolymphangiomas of the gastrointestinal tract: morphological features and clinical impact  

PubMed Central

Purpose: The purpose of our study was to describe the morphological features of gastrointestinal vascular malformations (VM) and of hemangiolymphangiomas (HLA) and to establish correlations with clinical characteristics. Significant findings: Fifteen VMs and 12 HLAs that were encountered over a period of 22 years, were retrospectively analyzed. The VMs often involved the colon, small intestine, but also the stomach, whereas none of the HLAs arose in the stomach. VMs were more frequently associated with gastrointestinal bleeding, ulcer and were larger than HLAs (p<0.01 for all comparisons). Intralesional hemorrhage and thrombosis were associated with VM (p=0.02 and p=0.05). Surgical resection was performed for 1 HLA and 14 VMs. Vessel abnormalities such as shunt vessels, wall tufts (excrescences) and arterialized veins were more frequent in VMs (p=0.01, p=0.04 and <0.01, respectively) whereas aneurysm-like cavities were observed in both lesion types. Mucosal abnormal vessels were observed only in VMs, whereas HLAs were associated with mucosal lymphatic clusters (p<0.01). Most HLAs contained a D2-40 hetero-geneously positive lymphatic component, were Glut-1 negative and CD31 reactive. There was no statistical difference in occurrence of associated autoimmune, tumoral and cardiovascular conditions between the two patient groups. Conclusions: The results of our study suggest that morphological features such as increased size, ulcer, thrombosis, hemorrhage and presence of aberrant mucosal vessels favor the diagnosis of VM. Co-existence of other clinical conditions such as cardiovascular disease, encountered in association with both lesion types, might exacerbate a tendency towards hemorrhage. PMID:21738815

Handra-Luca, Adriana; Montgomery, Elizabeth

2011-01-01

275

Clinical and Histological Features of Idiosyncratic Acute Liver Injury Caused by Temozolomide  

PubMed Central

Objective To describe the clinical, biochemical and histological features of 4 patients with apparent hepatotoxicity due to temozolomide and to summarize the available literature of hepatotoxicity associated with this agent. Design Case series Setting Patients were participants in the Drug-Induced Liver Injury Network a United States multicenter cooperative study. Patients Four patients (ages 47 to 70 years; 3 men, 1 woman) developed liver injury 1 to 7 months after starting temozolomide chemotherapy. Intervention Discontinuation of temozolomide therapy. Results Among the first 1000 cases of drug-induced liver injury enrolled in a prospective U.S. multicenter database, 4 cases of temozolomide hepatotoxicity were identified (0.5%).Three were jaundiced and the initial pattern of serum enzyme elevations was often hepatocellular or mixed, but usually became cholestatic with time. Immunoallergic and autoimmune features were absent. Liver biopsies showed varying degrees of cholestasis, mild inflammation, focal hepatocellular injury and prominent bile duct damage or paucity. The liver injury tended to be prolonged and 3 patients still had liver tests abnormalities (one with jaundice) when they died of brain tumor or complications of its therapy 1 to 18 months later. Conclusion Temozolomide hepatotoxicity although infrequent, can necessitate interruption of cancer chemotherapy and cause significant debility in already compromised patients. PMID:23212393

Grant, Lafaine; Kleiner, David E.; Conjeevaram, Hari S; Vuppalanchi, Raj; Lee, William M.

2013-01-01

276

Duodenal gastrinoma--clinical features and usefulness of selective arterial secretin injection test.  

PubMed

Duodenal gastrinoma is recognized as a relatively common cause of Zollinger-Ellison syndrome, but its clinical and biological features are not well known. Here we report a case of duodenal gastrinoma with lymph node metastasis which was confirmed by pathology examinations. Hypergastrinemia and gastric acid hypersecretion were documented, but the secretin test showed negative results. An enlarged peripancreatic lymph node lying close to the pancreas head was the only positive finding on preoperative imaging studies. The results of the selective arterial secretin injection (SASI) test suggested that the primary tumor was located in the gastrinoma triangle. Finally, surgical exploration was carried out and a submucosal tumor, approximately 15 mm in size, was detected by intraoperative palpation at the posterior wall of the proximal portion of the duodenum. Intraoperative pathology examination demonstrated metastases to regional lymph nodes. The present case calls attention to the unique features of duodenal gastrinomas, which differ from those of pancreatic origin: a highly malignant potential for its small size, and submucosal location in the proximal duodenum. The SASI test is recommended for assessing the location of a primary lesion if it cannot be identified by various conventional imaging studies. PMID:9773940

Takasu, A; Shimosegawa, T; Fukudo, S; Asakura, T; Uchi, M; Kimura, K; Kashimura, J; Satoh, K; Koizumi, M; Sasaki, I; Hongo, M; Suzuki, T; Toyota, T

1998-10-01

277

Cognition, Language, and Clinical Pathological Features of Non-Alzheimer's Dementias: An Overview  

PubMed Central

There are many distinct forms of dementia whose pharmacological and behavioral management differ. Differential diagnosis among the dementia variants currently relies upon a weighted combination of genetic and protein biomarkers, neuroanatomical integrity, and behavior. Diagnostic specificity is complicated by a high degree of overlap in the initial presenting symptoms across dementia subtypes. For this reason, reliable markers are of considerable diagnostic value. Communication disorders have proven to be among the strongest predictors for discriminating among dementia subtypes. As such, Speech-Language Pathologists may be poised to make an increasingly visible contribution to dementia diagnosis and its ongoing management. The value and durability of this potential contribution, however, demands an improved discipline-wide knowledge base about the unique features associated with different dementia variants. To this end we provide an overview of cognition, language, and clinical pathological features of four of the most common non-Alzheimer’s dementias: Frontotemporal Dementia, Vascular Dementia, Lewy Body Disease Dementia, and Parkinson’s Disease Dementia. PMID:20493496

Reilly, Jamie; Rodriguez, Amy; Lamy, Martine; Neils-Strunjas, Jean

2010-01-01

278

Clinically important features of porphyrin and heme metabolism and the porphyrias.  

PubMed

Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias. Porphyrias are classified as hepatic and erythropoietic porphyrias based on the organ system in which heme precursors (5-aminolevulinic acid (ALA), porphobilinogen and porphyrins) are chiefly overproduced. The hepatic porphyrias are further subdivided into acute porphyrias and chronic hepatic porphyrias. The acute porphyrias include acute intermittent, hereditary copro-, variegate and ALA dehydratase deficiency porphyria. Chronic hepatic porphyrias include porphyria cutanea tarda and hepatoerythropoietic porphyria. The erythropoietic porphyrias include congenital erythropoietic porphyria (G?nther's disease) and erythropoietic protoporphyria. In this review, we summarize the key features of normal heme synthesis and its differing regulation in liver versus bone marrow. In both organs, principal regulation is exerted at the level of the first and rate-controlling enzyme, but by different molecules (heme in the liver and iron in the bone marrow). We also describe salient clinical, laboratory and genetic features of the eight types of porphyria. PMID:25372274

Besur, Siddesh; Hou, Wehong; Schmeltzer, Paul; Bonkovsky, Herbert L

2014-01-01

279

Clinical and radiologic features of extraskeletal myxoid chondrosarcoma including initial presentation, local recurrence, and metastases  

PubMed Central

Background The aim of the study was to evaluate the clinical and imaging features of extraskeletal myxoid chondrosarcoma (EMC) including initial presentation, recurrence, and metastases. Patients and methods. In this institutional review board-approved retrospective study, imaging features of 13 patients with pathologically proven EMC seen from August 1995 to December 2011 were analyzed. The group included 3 women and 10 men and the mean age was 54 years (range 29–73 years). Imaging studies were evaluated by two radiologists in consensus. Location, size, and imaging features of primary tumors were recorded as well as the presence of recurrent disease and location of metastases. Results Among 13 patients, 3 died during the timeframe of this study. Nine patients had primary tumor in the lower extremity, and average tumor size was 9.3 cm (range 3.3–18 cm). On MRI, primary tumors were hyperintense on T2, isointense to muscle on T1, and demonstrated peripheral/septal enhancement. Three patients had local recurrence and 12 had metastatic disease, with lung involvement being the most common. Tumor density on contrast enhanced CT ranged from 8.2 to 82.9 Hounsfield unit (HU). FDG-PET/CT imaging was performed in 3 patients. One patient had no FDG avid disease and 2 patients had metastatic disease with standard uptake values (SUV) of 2.8 and 7.4. The patient with intense FDG uptake demonstrated more solid appearing tumor burden and had the shortest survival. Conclusions EMC is a rare tumor that often occurs in the lower extremities and frequently metastasizes to the lungs. Increased tumor density and increased FDG uptake may be related to more aggressive disease. PMID:25177237

Kapoor, Neena; Shinagare, Atul B.; Jagannathan, Jyothi P.; Shah, Shaan H.; Krajewski, Katherine M.; Hornick, Jason L.; Ramaiya, Nikhil H.

2014-01-01

280

Study of clinical features of amyloid angiopathy hemorrhage and hypertensive intracerebral hemorrhage  

PubMed Central

Objective: The purpose of this study was to differentiate between cerebral amyloid angiopathy (CAA) and hypertension (HTN) based on hemorrhage pattern interpretation. Methods: From June 1994 to Oct., 2000, 83 patients admitted to our service with acute intracerebral hemorrhage (ICH) were investigated retrospectively; 41 patients with histologically proven diagnosis of cerebral amyloid angiography and 42 patients with clear history of hypertension were investigated. Results: Patients with a CAA-related ICH were significantly older than patients with a HTN-related ICH (74.0 years vs 66.5 years, P<0.05). There was a significantly higher number of hematomas?30 ml in CAA (85.3%) when compared with HTN (59.5%). No basal ganglional hemorrhage was seen in CAA, but in 40.5% in HTN. In CAA-related ICH, subarachnoid hemorrhage (SAH) was seen in 26 patients (63.4%) compared to only 11 patients (26.2%) in HTN-related ICH. Intraventricular hemorrhage was seen in 24.4% in CAA, and in 26.2% in HTN. Typical features of CAA-related ICH included lobar distribution affecting mainly the lobar superficial areas, lobulated appearance, rupture into the subarachnoid space, and secondary IVH from the lobar hemorrhage. More specifically, multiplicity of hemorrhage, bilaterality, and repeated episodes also strongly suggest the diagnosis of CAA. Multiple hemorrhages, defined as 2 or more separate hematomas in multiple lobes, accounted for 17.1% in CAA-related ICH. Conclusion: There are certain features in CAA on CT and MRI and in clinical settings. To some extent, these features may contribute to distinguishing CAA from HTN related ICH. PMID:15362199

Zhan, Ren-ya; Tong, Ying; Shen, Jian-feng; Lang, E; Preul, C; Hempelmann, RG; Hugo, HH; Buhl, R; Barth, H; Klinge, H; Mehdorn, HM

2004-01-01

281

Phenotypic Delineation of Emanuel Syndrome (Supernumerary Derivative 22 syndrome): Clinical features of 63 individuals  

PubMed Central

Emanuel syndrome is characterized by multiple congenital anomalies and developmental disability. It is caused by the presence of a supernumerary derivative chromosome that contains material from chromosomes 11 and 22. The origin of this imbalance is 3:1 malsegregation of a parental balanced translocation between chromosomes 11 and 22, which is the most common recurrent reciprocal translocation in humans. Little has been published on the clinical features of this syndrome since the 1980s and information on natural history is limited. We designed a questionnaire to collect information from families recruited through an international online support group, Chromosome 22 Central. Data gathered include information on congenital anomalies, medical and surgical history, developmental and behavioural issues, and current abilities. We received information on 63 individuals with Emanuel syndrome, ranging in age from newborn to adulthood. As previously recognized, congenital anomalies were common, the most frequent being ear pits (76%), micrognathia (60%), heart malformations (57%), and cleft palate (54%). Our data suggest that vision and hearing impairment, seizures, failure to thrive and recurrent infections, particularly otitis media, are common in this syndrome. Psychomotor development is uniformly delayed, however the majority of individuals (over 70%) eventually learn to walk with support. Language development and ability for self-care are also very impaired. This study provides new information on the clinical spectrum and natural history of Emanuel syndrome for families and physicians caring for these individuals. PMID:19606488

Carter, Melissa T; Pierre, Stephanie A St.; Zackai, Elaine H; Emanuel, Beverly S; Boycott, Kym M

2009-01-01

282

[Epidemiology, clinical features and prognosis of juvenile tetanus in Dakar, Senegal].  

PubMed

This study was conducted to determine the prevalence of juvenile tetanus and to describe its epidemiological aspects, clinical features and prognosis. We prospectively recruited tetanus cases among patients in the age group 1-15 years admitted to the Infectious Diseases Clinic in Fann teaching hospital, Dakar, from March to September 2002. Forty cases of juvenile tetanus were recruited, accounting for 5.3% of total patients and 43% of all tetanus cases hospitalized during the study period. Mean age was 8.8 years +/- 4.4 years and sex-ratio M/F was 3. None of the patients was reported to have completed a full course of tetanus toxoid and most of them (77%) had been living in suburbs in Dakar were uneducated (77%) and had parents with no occupation (70%). Portals of entry were: skin injuries (62%), circumcision (20%), ear pearcing (5%) and suppurative otitis (8%). Tetanus became widespread in all cases, most of which having mild grade disease (72%). Pseudomonas aeruginosa bacteremia was diagnosed in the development of two fatal cases of otogenous tetanus. The overall case fatality rate was 8% (three deaths) and no sequelae was observed among those who recovered. The expanded programme on immunization should be reinforced and complemented with booster doses strategy to avoid tetanus whatever the age group. PMID:16425716

Soumaré, M; Seydi, M; Ndour, C T; Ndour, J D; Diop, B M

2005-12-01

283

Clinical features of mitochondrial DNA m.3243A>G mutation in 47 Chinese families.  

PubMed

m.3243A>G mutation in mitochondrial DNA is the most common pathogenic point mutation, causing a variety of phenotypes. To further elucidate its clinical characteristics, we recruited 47 Chinese families carrying m.3243A>G mutation and analyzed their symptoms, disease history, inheritance, and mitochondria-related complications. In the probands, lactic acidosis, myopathy, seizures, short stature, weight loss and hirsutism were the most common clinical features. In their mothers, lactic acidosis, exercise intolerance, short stature and weight loss were the frequent manifestations, and normal phenotype was found in 59.6% mothers. m.3243A>G mutation was detected in 47 probands and 42 mothers. In the probands, the mutation ratio in blood was threefold higher and the ratio in urine was twofold higher than those of their mothers. m.3243A>G mutation ratio in mothers' urine and in their probands' blood were weakly correlated. In conclusion, (a) stroke-like episode induced by m.3243A>G mutation may be the symptom predominantly found in older patients; (b) m.3243A>G mutation ratio correlates with the severity of the disease; (c) m.3243A>G mutation ratio in mothers' urine may correlate to the ratio in blood in their offspring. PMID:20149394

Ma, Yinan; Fang, Fang; Cao, Yanyan; Yang, Yanling; Zou, Liping; Zhang, Ying; Wang, Songtao; Zhu, Sainan; Xu, Yufeng; Pei, Pei; Qi, Yu

2010-04-15

284

Strongyloidiasis: prevalence, risk factors, clinical and laboratory features among diarrhea patients in Ibadan Nigeria.  

PubMed

Strongyloidiasis is a parasitic infection caused by Strongyloides stercoralis. The infection is usually mild or asymptomatic in normal immunocompetent individuals, but could be very severe or even fatal due to hyper infection in individuals who are immunosuppressed. This study aimed at determining the prevalence, risk factors and features of strongyloidiasis among diarrhea patients in Ibadan. This is a descriptive cross-sectional study of diarrhea patients from a teaching hospital, three major government hospitals and one mission hospital in Ibadan. Self administered questionnaire, clinical assessment and laboratory investigations were used to confirm health status and presence of S. stercoralis. Diagnosis was made by microscopic examination of stool in saline preparation and formol-ether concentration. One thousand and ninety patients, (562 (51.6%) males and 528 (48.4%) females) consisting 380 (34.9%) children and 710 (65.1%) adults who had diarrhea were studied. The prevalence rate for the parasite among diarrhea patients was 3.0%. While the risk factor for infection remains contact with contaminated soil, malnutrition, steroid therapy, HIV/AIDS, lymphomas, tuberculosis, and chronic renal failure. Others are maleness, institutionalism and alcoholism. Predominant clinical presentations are abdominal pain, chronic diarrhea, and bloating and weight loss, Strongyloides stercoralis should be considered in diarrhea patients who are either malnourished or immunosuppressed. PMID:21735994

Dada-Adegbola, H O; Oluwatoba, O A; Bakare, R A

2010-12-01

285

Early Controversies over Athetosis: I. Clinical Features, Differentiation from other Movement Disorders, Associated Conditions, and Pathology  

PubMed Central

Background Since the description of athetosis in 1871 by American neurologist William Alexander Hammond (1828–1900) the disorder has been a source of controversy, as were many aspects of Hammond’s career. Methods Primary sources have been used to review controversies in the 50-year period since the initial description of athetosis, in particular those concerning clinical features, differentiation from other movement disorders, associated conditions, and pathology. Controversies concerning treatment will be addressed in a subsequent article. Results Hammond struggled to establish athetosis as a distinct clinical–pathological entity, and had successfully predicted the striatal pathology in his initial case (albeit somewhat serendipitously). Athetosis was, nevertheless, considered by many neurologists to be a form of post-hemiplegic chorea or part of a continuum between chorea and dystonia. European neurologists, and particularly the French, initially ignored or discounted the concept. Additional controversies arose over whether the movements persisted during sleep, whether athetosis was, or could be, associated with imbecility or insanity, and how it should be treated. Discussion Some controversies concerning athetosis served to identify areas where knowledge was insufficient to make accurate statements, despite prior self-assured or even dogmatic statements to the contrary. Other controversies illustrated established prejudices, even if these biases were often only apparent with the greater detachment of hindsight. PMID:23450262

Lanska, Douglas J.

2013-01-01

286

Clinical and genetic features of Warts, Hypogammaglobulinemia, Infections and Myelokathexis (WHIM) syndrome.  

PubMed

WHIM syndrome is a dominantly inherited primary immunodeficiency disorder representing the first identified example of human disease caused by mutations in the gene encoding for the chemokine receptor CXCR4. Pathogenesis is mediated by CXCR4 hyperfunction, leading to increased responsiveness to its unique ligand CXCL12 (also known as SDF-1). The altered CXCR4/CXCL12 interaction likely impairs cellular homeostasis and trafficking, resulting in immunological dysfunctions. The acronym WHIM resumes the main features of the syndrome: Warts, Hypogammaglobulinemia, Infections and Myelokathexis, which is abnormal retention of mature neutrophils in the bone marrow. WHIM patients suffer from recurrent bacterial infections since childhood and manifest a specific susceptibility to HPV infections. Hematological findings include neutropenia, lymphopenia and hypogammaglobulinemia. Because of the rarity of the disease and the heterogeneity in clinical presentation, diagnosis is often delayed. In the majority of patients, the phenotype is incomplete at the onset and WHIM syndrome is not suspected. Early identification may improve clinical and therapeutic management. Symptomatic treatments include G-CSF, substitutive immunoglobulins and antibiotic prophylaxis. A new therapeutic strategy might include the potent inhibitor of CXCR4 function plerixafor (Mozobil), as an agent specifically targeting the molecular defect in order to attenuate the phenotypic manifestations of the syndrome. PMID:21506920

Dotta, L; Tassone, L; Badolato, R

2011-06-01

287

Galectin-1 serum levels reflect tumor burden and adverse clinical features in classical Hodgkin lymphoma.  

PubMed

Galectin-1 (Gal1) is a member of a highly conserved family of carbohydrate-binding proteins. It modulates innate and adaptive immune responses and fosters tumor-immune escape. Hodgkin lymphoma (HL) Reed-Sternberg cells overexpress and secrete Gal1, which selectively kills T helper (Th)1 and Th17 cells and cytotoxic T cells and promotes the immunosuppressive Th2/regulatory T-cell-predominant HL microenvironment. We developed a sandwich enzyme-linked immunosorbent assay and assessed serum Gal1 levels in 293 newly diagnosed, previously untreated patients with classical HL (cHL) enrolled in 3 risk-adapted clinical trials. Serum Gal1 levels were significantly higher in patients with cHL than in normal controls (P < .0001). Gal1 serum levels also increased with Ann Arbor stage (P = .012), areas of nodal involvement (P < .0001), and the International Prognostic Score (2-7, P = .019). We conclude that Gal1 serum levels are significantly associated with tumor burden and related clinical features in newly diagnosed cHL patients. PMID:23444403

Ouyang, Jing; Plütschow, Annette; Pogge von Strandmann, Elke; Reiners, Katrin S; Ponader, Sabine; Rabinovich, Gabriel A; Neuberg, Donna; Engert, Andreas; Shipp, Margaret A

2013-04-25

288

Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects.  

PubMed

Muscle carnitine palmitoyltransferase (CPT) II deficiency is an autosomal recessive disorder of fatty acid oxidation characterized by attacks of myalgia and myoglobinuria. This review summarizes the clinical features of this disease, analyzing data of 28 patients with biochemically and genetically confirmed CPT II deficiency. The review shows that exercise-induced myalgia is the most frequent symptom, whereas myoglobinuria, known as the clinical hallmark, is missing in 21% of the patients. Typically, myalgia starts in childhood, whereas attacks with myoglobinuria mostly emerge in adolescence or early adulthood. However, there are also patients with only myalgia, patients with attacks triggered by factors other than exercise, and patients with late-onset disease. Molecular or biochemical analysis is necessary for diagnosis, since no myopathologic hallmark exists. For screening patients, analysis of not only the common S113L mutation but also the P50H and Q413fs-F448L mutations is recommended. The phenotype of muscle CPT II deficiency might be influenced by the underlying mutation, and patients with a truncating mutation on 1 allele might be affected more severely. PMID:15642848

Deschauer, Marcus; Wieser, Thomas; Zierz, Stephan

2005-01-01

289

Does the choice of display system influence perception and visibility of clinically relevant features in digital pathology images?  

NASA Astrophysics Data System (ADS)

Digital pathology systems typically consist of a slide scanner, processing software, visualization software, and finally a workstation with display for visualization of the digital slide images. This paper studies whether digital pathology images can look different when presenting them on different display systems, and whether these visual differences can result in different perceived contrast of clinically relevant features. By analyzing a set of four digital pathology images of different subspecialties on three different display systems, it was concluded that pathology images look different when visualized on different display systems. The importance of these visual differences is elucidated when they are located in areas of the digital slide that contain clinically relevant features. Based on a calculation of dE2000 differences between background and clinically relevant features, it was clear that perceived contrast of clinically relevant features is influenced by the choice of display system. Furthermore, it seems that the specific calibration target chosen for the display system has an important effect on the perceived contrast of clinically relevant features. Preliminary results suggest that calibrating to DICOM GSDF calibration performed slightly worse than sRGB, while a new experimental calibration target CSDF performed better than both DICOM GSDF and sRGB. This result is promising as it suggests that further research work could lead to better definition of an optimized calibration target for digital pathology images resulting in a positive effect on clinical performance.

Kimpe, Tom; Rostang, Johan; Avanaki, Ali; Espig, Kathryn; Xthona, Albert; Cocuranu, Ioan; Parwani, Anil V.; Pantanowitz, Liron

2014-03-01

290

Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness.  

PubMed

The mitochondrial mutation A-->G at nucleotide position 3243 is associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and other mitochondrial encephalomyopathies. We found this mutation in a 61-year-old patient who developed at the age of 54 a myopathy with painful muscle stiffness as the predominant symptom. Additionally hypacusis, a mild hemisensory syndrome and impaired glucose tolerance were present. Muscle histopathology showed few ragged red fibers. The mutation was detected heteroplasmatically in DNA from muscle and blood. So far painful muscle stiffness has not been a known phenotype of the 3243 mutation. PMID:10407850

Deschauer, M; Wieser, T; Neudecker, S; Lindner, A; Zierz, S

1999-07-01

291

Considering specific clinical features as evidence of pathogenic copy number variants.  

PubMed

Since the introduction of high-resolution microarray technologies, it has become apparent that structural chromosomal rearrangements can lead to a wide variety of clinical manifestations, including developmental delay/intellectual disability (DD/ID). It has been shown previously that the diagnostic yield of genome-wide array-based identification of submicroscopic alterations in patients with ID varies widely and depends on the patient selection criteria. More attempts have recently been made to define the phenotypic clues of pathogenic copy number variants (CNVs). The aim of this study was to investigate a well-phenotyped cohort of patients with DD/ID and determine whether certain clinical features may serve as indicators for pathogenic CNVs. A retrospective analysis was conducted for patients with DD/ID (n?=?211) who were tested using genome-wide chromosomal microarray technologies and a review of the clinical data was performed. Pathogenic CNVs were detected in 29 patients. In comparison with individuals who had normal molecular karyotyping results (n?=?182), malformations of the musculoskeletal system; congenital malformations of the CNS (particularly hydrocephalus and congenital malformations of the corpus callosum); minor anomalies of the eye, face, and neck subgroup (particularly downward-slanting palpebral fissures, minor anomalies of the ear, and micrognathia); brachydactyly; and umbilical hernia were more common in patients with chromosomal alterations. A multivariate logistic regression analysis allowed the identification of three independent pathogenic CNV predictors: congenital malformations of the corpus callosum, minor anomalies of the ear, and brachydactyly. Insights into the chromosomal phenotype may help to increase the diagnostic yield of microarray technologies and sharpen the distinction between chromosomal alterations and other conditions. PMID:24535828

Preiksaitiene, Egle; Molyt?, Alma; Kasnauskiene, Jurate; Ciuladaite, Zivile; Utkus, Algirdas; Patsalis, Philippos C; Ku?inskas, Vaidutis

2014-05-01

292

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.  

PubMed

Patients with cutis laxa (CL) have wrinkled, sagging skin with decreased elasticity. Skin symptoms are associated with variable systemic involvement. The most common, genetically highly heterogeneous form of autosomal recessive CL, ARCL2, is frequently associated with variable metabolic and neurological symptoms. Progeroid symptoms, dysmorphic features, hypotonia and psychomotor retardation are highly overlapping in the early phase of these disorders. This makes the genetic diagnosis often challenging. In search for discriminatory symptoms, we prospectively evaluated clinical, neurologic, metabolic and genetic features in our patient cohort referred for suspected ARCL. From a cohort of 26 children, we confirmed mutations in genes associated with ARCL in 16 children (14 probands), including 12 novel mutations. Abnormal glycosylation and gyration abnormalities were mostly, but not always associated with ATP6V0A2 mutations. Epilepsy was most common in ATP6V0A2 defects. Corpus callosum dysgenesis was associated with PYCR1 and ALDH18A1 mutations. Dystonic posturing was discriminatory for PYCR1 and ALDH18A1 defects. Metabolic markers of mitochondrial dysfunction were found in one patient with PYCR1 mutations. So far unreported white matter abnormalities were found associated with GORAB and RIN2 mutations. We describe a large cohort of CL patients with neurologic involvement. Migration defects and corpus callosum hypoplasia were not always diagnostic for a specific genetic defect in CL. All patients with ATP6V0A2 defects had abnormal glycosylation. To conclude, central nervous system and metabolic abnormalities were discriminatory in this genetically heterogeneous group, although not always diagnostic for a certain genetic defect in CL. PMID:23963297

Gardeitchik, Thatjana; Mohamed, Miski; Fischer, Björn; Lammens, Martin; Lefeber, Dirk; Lace, Baiba; Parker, Michael; Kim, Ki-Joong; Lim, Bing C; Häberle, Johannes; Garavelli, Livia; Jagadeesh, Sujatha; Kariminejad, Ariana; Guerra, Deanna; Leão, Michel; Keski-Filppula, Riikka; Brunner, Han; Nijtmans, Leo; van den Heuvel, Bert; Wevers, Ron; Kornak, Uwe; Morava, Eva

2014-07-01

293

TDP-43 is a key player in the clinical features associated with Alzheimer's disease.  

PubMed

The aim of this study was to determine whether the TAR DNA-binding protein of 43 kDa (TDP-43) has any independent effect on the clinical and neuroimaging features typically ascribed to Alzheimer's disease (AD) pathology, and whether TDP-43 pathology could help shed light on the phenomenon of resilient cognition in AD. Three-hundred and forty-two subjects pathologically diagnosed with AD were screened for the presence, burden and distribution of TDP-43. All had been classified as cognitively impaired or normal, prior to death. Atlas-based parcellation and voxel-based morphometry were used to assess regional atrophy on MRI. Regression models controlling for age at death, apolipoprotein ?4 and other AD-related pathologies were utilized to explore associations between TDP-43 and cognition or brain atrophy, stratified by Braak stage. In addition, we determined whether the effects of TDP-43 were mediated by hippocampal sclerosis. One-hundred and ninety-five (57 %) cases were TDP-positive. After accounting for age, apolipoprotein ?4 and other pathologies, TDP-43 had a strong effect on cognition, memory loss and medial temporal atrophy in AD. These effects were not mediated by hippocampal sclerosis. TDP-positive subjects were 10× more likely to be cognitively impaired at death compared to TDP-negative subjects. Greater cognitive impairment and medial temporal atrophy were associated with greater TDP-43 burden and more extensive TDP-43 distribution. TDP-43 is an important factor in the manifestation of the clinico-imaging features of AD. TDP-43 also appears to be able to overpower what has been termed resilient brain aging. TDP-43 therefore should be considered a potential therapeutic target for the treatment of AD. PMID:24659241

Josephs, Keith A; Whitwell, Jennifer L; Weigand, Stephen D; Murray, Melissa E; Tosakulwong, Nirubol; Liesinger, Amanda M; Petrucelli, Leonard; Senjem, Matthew L; Knopman, David S; Boeve, Bradley F; Ivnik, Robert J; Smith, Glenn E; Jack, Clifford R; Parisi, Joseph E; Petersen, Ronald C; Dickson, Dennis W

2014-12-01

294

Epidemiology and Clinical Features of Atopic Dermatitis in Kerman, a Desert Area of Iran  

PubMed Central

Background Epidemiologic studies of atopic dermatitis (AD) in desert areas are still lacking. Objective The aim of this study was to investigate the epidemiology of AD in children in Kerman city, a desert area in Iran. Methods We evaluated preschool children (age, 2 to 7 years) and primary school students (age, greater than 7 up to 12 years) in Kerman. We selected 865 students to estimate the prevalence and assess other features of AD such as distribution of lesions, personal history, family history of atopy, aggravating factors, associated symptoms, and morphological variants. Results The prevalence of AD was 9.1% in our study population. The prevalence of AD was 9.17% and 9.09% in males and females, respectively. The prevalence of AD in the age range of 2 to 7 years was 13.53% and 8.33% among children aged greater than 7 up to 12 years. In total, 82.27% of the patients were in chronic stage of the disease, and 31.6% had a personal history of other atopic diseases. At least one first-degree family member with atopy was seen in 46.83% of the patients. The most common sites of involvement were the head and neck. The most involved areas in the limbs were extensor surfaces. The most frequent morphological variant of AD was the common type. Conclusion The prevalence of AD in Kerman was higher than in other Iranian cities but lower than that in developed countries. Diversity in the clinical features of AD has been observed among different studies, and the diagnostic criteria of AD should be adapted in proportion to the studied area. PMID:24648683

Esfandiarpour, Iraj; Sedaghatmanesh, Maryam; Saviz, Mahdieh

2014-01-01

295

Oxidative Stress and Erythrocyte Membrane Alterations in Children with Autism: Correlation with Clinical Features  

PubMed Central

It has been suggested that oxidative stress may play a role in the pathogenesis of Autism Spectrum Disorders (ASD), but the literature reports somewhat contradictory results. To further investigate the issue, we evaluated a high number of peripheral oxidative stress parameters, and some related issues such as erythrocyte membrane functional features and lipid composition. Twenty-one autistic children (Au) aged 5 to 12 years, were gender and age-matched with 20 typically developing children (TD). Erythrocyte thiobarbituric acid reactive substances, urinary isoprostane and hexanoyl-lysine adduct levels were elevated in Au, thus confirming the occurrence of an imbalance of the redox status of Au, whilst other oxidative stress markers or associated parameters (urinary 8-oxo-dG, plasma radical absorbance capacity and carbonyl groups, erythrocyte superoxide dismutase and catalase activities) were unchanged. A very significant reduction of Na+/K+-ATPase activity (?66%, p<0.0001), a reduction of erythrocyte membrane fluidity and alteration in erythrocyte fatty acid membrane profile (increase in monounsaturated fatty acids, decrease in EPA and DHA-?3 with a consequent increase in ?6/?3 ratio) were found in Au compared to TD, without change in membrane sialic acid content. Some Au clinical features appear to be correlated with these findings; in particular, hyperactivity score appears to be related with some parameters of the lipidomic profile and membrane fluidity. Oxidative stress and erythrocyte membrane alterations may play a role in the pathogenesis of ASD and prompt the development of palliative therapeutic protocols. Moreover, the marked decrease in NKA could be potentially utilized as a peripheral biomarker of ASD. PMID:23840462

Visconti, Paola; Bolotta, Alessandra; Ferreri, Carla; Gobbi, Giuseppe; Malisardi, Gemma; Manfredini, Stefano; Marini, Marina; Nanetti, Laura; Pipitone, Emanuela; Raffaelli, Francesca; Resca, Federica; Mazzanti, Laura

2013-01-01

296

Clinical features and outcome of septic arthritis in a single UK Health District 1982-1991  

PubMed Central

AIMS—To determine the clinical features of a large number of unselected UK hospital patients with confirmed septic arthritis and to determine those features associated with a poor outcome.?STUDY DESIGN—Retrospective, case-note survey. ?SETTING—A single English Health District.?PATIENTS—All patients admitted to hospital in Nottingham during the period 1 January 1982 to 31 December 1991 with confirmed septic arthritis were included. ?OUTCOME MEASURES—Death, osteomyelitis and recorded functional impairment. ?RESULTS—The spectrum of causative organisms remains similar to that seen in previous studies with the Gram positive organisms Staphylococcus aureus and Streptococci responsible for 74% of cases, gonococcal infections though were less common. Culture of joint aspirates and or blood were positive in 82% of cases, with the Gram stain demonstrating the causative organism in 50% of cases. Pre-existing joint disease was evident in 35% of cases. The mortality remains high at 11.5% with a significant additional morbidity of 31.6%. Multivariate analysis suggests that important predictors of death are: confusion at presentation, age ?65 years, multiple joint sepsis or involvement of the elbow joint, and of morbidity are: age ? 65 years, diabetes mellitus, open surgical drainage, and Gram positive infections other than S aureus.?CONCLUSIONS—Septic arthritis continues to be associated with a considerable degree of morbidity and mortality. These results confirm the importance of obtaining synovial fluid and blood for culture before starting antimicrobial treatment. The apparent poorer outcome found with surgical intervention is in line with some previous suggestions but should be interpreted with caution in light of the retrospective nature of this study.?? Keywords: septic arthritis; surgical drainage PMID:10364899

Weston, V; Jones, A; Bradbury, N; Fawthrop, F; Doherty, M

1999-01-01

297

Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes.  

PubMed

The clinical associations of glycine receptor antibodies have not yet been described fully. We identified prospectively 52 antibody-positive patients and collated their clinical features, investigations and immunotherapy responses. Serum glycine receptor antibody endpoint titres ranged from 1:20 to 1:60 000. In 11 paired samples, serum levels were higher than (n = 10) or equal to (n = 1) cerebrospinal fluid levels; there was intrathecal synthesis of glycine receptor antibodies in each of the six pairs available for detailed study. Four patients also had high glutamic acid decarboxylase antibodies (>1000 U/ml), and one had high voltage-gated potassium channel-complex antibody (2442 pM). Seven patients with very low titres (<1:50) and unknown or alternative diagnoses were excluded from further study. Three of the remaining 45 patients had newly-identified thymomas and one had a lymphoma. Thirty-three patients were classified as progressive encephalomyelitis with rigidity and myoclonus, and two as stiff person syndrome; five had a limbic encephalitis or epileptic encephalopathy, two had brainstem features mainly, two had demyelinating optic neuropathies and one had an unclear diagnosis. Four patients (9%) died during the acute disease, but most showed marked improvement with immunotherapies. At most recent follow-up, (2-7 years, median 3 years, since first antibody detection), the median modified Rankin scale scores (excluding the four deaths) decreased from 5 at maximal severity to 1 (P < 0.0001), but relapses have occurred in five patients and a proportion are on reducing steroids or other maintenance immunotherapies as well as symptomatic treatments. The glycine receptor antibodies activated complement on glycine receptor-transfected human embryonic kidney cells at room temperature, and caused internalization and lysosomal degradation of the glycine receptors at 37°C. Immunoglobulin G antibodies bound to rodent spinal cord and brainstem co-localizing with monoclonal antibodies to glycine receptor-?1. Ten glycine receptor antibody positive samples were also identified in a retrospective cohort of 56 patients with stiff person syndrome and related syndromes. Glycine receptor antibodies are strongly associated with spinal and brainstem disorders, and the majority of patients have progressive encephalomyelitis with rigidity and myoclonus. The antibodies demonstrate in vitro evidence of pathogenicity and the patients respond well to immunotherapies, contrasting with earlier studies of this syndrome, which indicated a poor prognosis. The presence of glycine receptor antibodies should help to identify a disease that responds to immunotherapies, but these treatments may need to be sustained, relapses can occur and maintenance immunosuppression may be required. PMID:24951641

Carvajal-González, Alexander; Leite, M Isabel; Waters, Patrick; Woodhall, Mark; Coutinho, Ester; Balint, Bettina; Lang, Bethan; Pettingill, Philippa; Carr, Aisling; Sheerin, Una-Marie; Press, Raomand; Lunn, Michael P; Lim, Ming; Maddison, Paul; Meinck, H-M; Vandenberghe, Wim; Vincent, Angela

2014-08-01

298

Clinical features of prefrail older individuals and emerging peripheral biomarkers: a systematic review.  

PubMed

Frailty is a geriatric syndrome characterized by the clinical presentation of identifiable physical alterations such as loss of muscle mass and strength, energy and exercise tolerance, and decreased physiological reserve. Individuals with one or two of these alterations are defined as prefrail. The clinical features of prefrail older individuals have been investigated to a lesser extent compared to the frail population, even though this intermediate stage may provide insights into the mechanisms involved in the physical decline associated with aging and it is considered to be potentially reversible. We performed searches in the Medline, Embase, Scopus, Cinahl, and Cochrane databases from January 1995 to July 2013 for papers about the identification of prefrail people aged 65 and older published either in English or Spanish, and the reference lists of from the articles retrieved were pearled in order to identify any which may have been missed in the initial search. Two independent reviewers extracted descriptive information on frailty criteria and outcomes from the selected papers: of the 277 articles retrieved from the searches and 25 articles retrieved from pearling, 84 met the study inclusion criteria. The prevalence of prefrailty ranges between 35% and 50% in individuals aged over 60, is more common in women, and the age and the number of comorbidities in these individuals is similar to their frail counterparts. Weakness is the most prevalent symptom in prefrail individuals although there are some sex differences. Some serum biomarkers seem to discriminate prefrail from non-frail individuals but further research would be required to confirm this. PMID:24679669

Fernández-Garrido, Julio; Ruiz-Ros, Vicente; Buigues, Cristina; Navarro-Martinez, Rut; Cauli, Omar

2014-01-01

299

Primary and secondary breast lymphoma: prevalence, clinical signs and radiological features  

PubMed Central

Objectives The purpose of this study was to determine the prevalence, clinical signs and radiological features of breast lymphoma. Methods This is a retrospective review of 36 patients with breast lymphoma (22 primary and 14 secondary). 35 patients were female and 1 was male; their median age was 65 years (range 24–88 years). In all patients, the diagnosis was confirmed histopathologically. Results The prevalence of breast lymphoma was 1.6% of all identified cases with non-Hodgkin lymphoma and 0.5% of cases with breast cancer. B-cell lymphoma was found in 94% and T-cell lymphoma in 6%. 96 lesions were identified (2.7 per patient). The mean size was 15.8±8.3 mm. The number of intramammary lesions was higher in secondary than in primary lymphoma. The size of the identified intramammary lesions was larger in primary than in secondary lymphoma. Clinically, 86% of the patients presented with solitary or multiple breast lumps. In 14%, breast involvement was diagnosed incidentally during staging examinations. Conclusion On mammography, intramammary masses were the most commonly seen (27 patients, 82%). Architectural distortion occurred in three patients (9%). In three patients (9%), no abnormalities were found on mammography. On ultrasound, the identified lesions were homogeneously hypoechoic or heterogeneously mixed hypo- to hyperechoic. On MRI, the morphology of the lesions was variable. After intravenous administration of contrast medium, a marked inhomogeneous contrast enhancement was seen in most cases. On CT, most lesions presented as circumscribed round or oval masses with moderate or high enhancement. PMID:22665932

Surov, A; Holzhausen, H-J; Wienke, A; Schmidt, J; Thomssen, C; Arnold, D; Ruschke, K; Spielmann, R-P

2012-01-01

300

Clinical features of organophosphate poisoning: A review of different classification systems and approaches  

PubMed Central

Purpose: The typical toxidrome in organophosphate (OP) poisoning comprises of the Salivation, Lacrimation, Urination, Defecation, Gastric cramps, Emesis (SLUDGE) symptoms. However, several other manifestations are described. We review the spectrum of symptoms and signs in OP poisoning as well as the different approaches to clinical features in these patients. Materials and Methods: Articles were obtained by electronic search of PubMed® between 1966 and April 2014 using the search terms organophosphorus compounds or phosphoric acid esters AND poison or poisoning AND manifestations. Results: Of the 5026 articles on OP poisoning, 2584 articles pertained to human poisoning; 452 articles focusing on clinical manifestations in human OP poisoning were retrieved for detailed evaluation. In addition to the traditional approach of symptoms and signs of OP poisoning as peripheral (muscarinic, nicotinic) and central nervous system receptor stimulation, symptoms were alternatively approached using a time-based classification. In this, symptom onset was categorized as acute (within 24-h), delayed (24-h to 2-week) or late (beyond 2-week). Although most symptoms occur with minutes or hours following acute exposure, delayed onset symptoms occurring after a period of minimal or mild symptoms, may impact treatment and timing of the discharge following acute exposure. Symptoms and signs were also viewed as an organ specific as cardiovascular, respiratory or neurological manifestations. An organ specific approach enables focused management of individual organ dysfunction that may vary with different OP compounds. Conclusions: Different approaches to the symptoms and signs in OP poisoning may better our understanding of the underlying mechanism that in turn may assist with the management of acutely poisoned patients.

Peter, John Victor; Sudarsan, Thomas Isiah; Moran, John L.

2014-01-01

301

Clinical features of community-acquired pneumonia treated at Srinagarind Hospital, Khon Kaen, Thailand.  

PubMed

Pneumonia is a serious illness associated with significant morbidity and mortality. The interpretation guidelines for pneumonia management requires knowledge of both the clinical presentation of the disease and local epidemiology. We studied the clinical features, initial laboratory results, antibiotic sensitivities, and outcomes of patients diagnosed with acute community-acquired pneumonia between January 1999 and December 2000 at Srinagarind Hospital. The causative organisms were identified in only 52.2% patients; Streptococcus pneumoniae accounted for 23.1% of infections. Other common causes included Klebsiellapneumoniae (19.2%), Burkholderia pseudomallei (15.4%), Hemophilus influenzae (11.5%), Mycoplasma pneumoniae (6.2%), and Staphylococcus aureus (4.6%). Younger patients were more likely to be infected with M. pneumoniae, while the mean age of those with other types of infections was 50. Healthy adults were infected with M. pneumoniae and S. pneumoniae; specific pathogens attacked patients with certain co-morbidity : i) diabetes mellitus and ageing, ii) diabetes mellitus and renal disease, iii) cardiovascular diseases, and iv) connective tissue diseases and steroid-use; these patients were vulnerable to i) K. pneumoniae, ii) B. pseudomallei, iii) H. influenzae, and iv) S. aureus respectively. White blood cell counts were normal in M. pneumoniae infection. Gram-stained sputum had some limitations, especially when determining Gram-negative infections; chest x-rays could not differentiate pathogens. Bactermia was found in one half of patients infected with B. pseudomallei and S. aureus. Antibiotic-resistant organisms were not common in our study. Because morbidity and mortality were high among patients infected with S. aureus and B. pseudomallei, empirical antibiotic treatment should be considered in suspected cases, especially when patients present with acute severe community-acquired pneumonia. PMID:12236437

Reechaipichitkul, Wipa; Tantiwong, Puntip

2002-06-01

302

Orthokeratinized odontogenic cyst in a Hong Kong community: the clinical and radiological features  

PubMed Central

Objectives The aim was to evaluate the principal clinical and conventional radiological features of a consecutive series of cases of orthokeratinized odontogenic cyst (OOC) affecting a Hong Kong Chinese community and to determine the outcome by follow-up. Methods All cases were accompanied by appropriate radiography and were confirmed by histopathology. Results The clinical and conventional radiological presentations, differential diagnoses and outcomes of follow-up of five consecutive OOCs were reviewed. There were two males and three females. All affected the posterior sextant. The mean age at first presentation was 33.5 years. The mean of their period of prior awareness was 0.11 years. Swelling was the most frequent presenting symptom. All presented as well-defined corticated radiolucencies; three were unilocular and two were multilocular and all displayed expansion. This resulted in displacement and erosion of the lower border of the mandible in one case and the downward displacement past the lower border of a lateral cortex in two others. The inferior dental canal in each mandibular case exhibited both displacement and absence. The antrum was affected in a sole maxillary case. Four patients were followed up for a mean of 8.5 years. The fifth patient discharged himself shortly after surgery. No lesions recurred. Conclusions OOCs in this community displayed an expansile character, but did not recur after moderately long follow-up. The time between the prior awareness of their disease and their presentation for diagnosis and treatment was, so far, the shortest for any lesion affecting the jaw in this Hong Kong Chinese community. PMID:20395466

MacDonald-Jankowski, D S; Li, T K

2010-01-01

303

Observational study on Takotsubo-like cardiomyopathy: clinical features, diagnosis, prognosis and follow-up  

PubMed Central

Objectives The present study attempts to identify appropriate elements that may contribute to clarify the broad clinical features (diagnosis, care, complication and prognosis) of Takotsubo-like cardiomyopathy for improving its management. Design study Observational study. Setting Primary level of care referred to the emergency department of Vannini Hospital, Rome, Italy. Participants The study population consisted of 75 patients, 72 of the them were women and 3 were men with a mean age of 71.9±9.6?years. Methods From February 2004 to November 2010, prospectively included 84 consecutive patients diagnosed for suspected Takotsubo-like cardiomyopathy. To be eligible, patients had to meet all the Mayo clinic criteria in the absence of neurological trauma or intracranial haemorrhage. Moreover, those patients that at follow-up still presented alteration of acute phase at ECG and echocardiogram were excluded. Thus, 75 patients comprised the study population. To follow-up 19 patients were lost. Results None of 75 patients died in acute phase. All patients were promptly discharged (8.4±4.4?days), since they recovered their normal functional status without symptoms. Follow-up information was available for 56 patients. At a mean follow-up time of 2.2±2?years (range, 0.1–6.8?years) two octogenarian patients (2.6%) died because of sudden cardiac death and pulmonary embolism, respectively. The Takotsubo-like cardiomyopathy recurred in one patient. Conclusions The results of this study support the previous reports about the good prognosis, also in critically ill patients, of Takotsubo-like cardiomyopathy. Further assessment will be needed to determine a careful and sustained follow-up for choosing the best care and foreseeing the recurrences of this emerging condition. PMID:23065445

Cacciotti, Luca; Passaseo, Ilaria; Marazzi, Giuseppe; Camastra, Giovanni; Campolongo, Giuseppe; Beni, Sergio; Lupparelli, Fabrizio; Ansalone, Gerardo

2012-01-01

304

Characterization of swarming and mating behaviour between Anopheles coluzzii and Anopheles melas in a sympatry area of Benin.  

PubMed

The swarm structure of two sibling species, Anopheles gambiae coluzzii and Anopheles melas, was characterize to explore the ecological and environmental parameters associated with the formation of swarms and their spatial distribution. Swarms and breeding sites were searched and sampled between January and December 2010, and larval and adult samples were identified by PCR. During the dry season, 456 swarms of An. gambiae s.l. were sampled from 38 swarm sites yielding a total of 23,274 males and 76 females. Of these 38 swarming sites, 18 were composed exclusively of An. gambiae coluzzii and 20 exclusively of An. melas, presenting clear evidence of reproductive swarm segregation. The species makeup of couples sampled from swarms also demonstrated assortative mating. The swarm site localization was close to human dwellings in the case of the An. gambiae coluzzii and on salt production sites for An. melas. At the peak of the rainy season, swarms of An. melas were absent. These findings offer evidence that the ecological speciation of these two sibling species of mosquitoes is associated with spatial swarm segregation and assortative mating, providing strong support for the hypothesis that mate recognition is currently maintaining adaptive differentiation and promoting ecological speciation. Further studies on the swarming and mating systems of An. gambiae, with the prospect of producing a predictive model of swarm distribution, are needed to inform any future efforts to implement strategies based on the use of GMM or SIT. PMID:24113221

Assogba, Benoît S; Djogbénou, Luc; Saizonou, Jacques; Diabaté, Abdoulaye; Dabiré, Roch K; Moiroux, Nicolas; Gilles, Jérémie R L; Makoutodé, Michel; Baldet, Thierry

2014-04-01

305

The inf luence of the invasive black bullhead Ameiurus melas on the predatory efficiency of pike Esox lucius L  

Microsoft Academic Search

The influence of the invasive black bullhead Ameiurus melas on the predatory efficiency of the pike Esox lucius was investigated using an additive experimental design. Pike predatory success on 0þ years roach Rutilus rutilus was significantly reduced in the presence of black bullhead. Among the different hypotheses that may explain such a pattern, the hypothesis of direct competition between pike

K. KREUTZENBERGER; F. L EPRIEUR; S. BROSSE

2008-01-01

306

Is Mass Removal an Efficient Measure to Regulate the North American Catfish Ameiurus melas Outside of Its Native Range?  

Microsoft Academic Search

The black bullhead (Ameiurus melas) is a North American species that has successfully established populations throughout Europe. The main management policy to regulate its population in France is systematic mass removal by fishers, but the efficiency of this measure has not been evaluated. In the Grande Brière Motièrre marsh (northwest France), this species currently dominates the fish assemblage. We sampled

Julien Cucherousset; Jean-Marc Paillisson; Alexandre Carpentier

2006-01-01

307

Epidemiology and Clinical Features of Ciguatera Fish Poisoning in Hong Kong  

PubMed Central

In the present review, the main objective was to describe the epidemiology and clinical features of ciguatera fish poisoning in Hong Kong. From 1989 to 2008, the annual incidence of ciguatera varied between 3.3 and 64.9 (median 10.2) per million people. The groupers have replaced the snappers as the most important cause of ciguatera. Pacific-ciguatoxins (CTX) are most commonly present in reef fish samples implicated in ciguatera outbreaks. In affected subjects, the gastrointestinal symptoms often subside within days, whereas the neurological symptoms can persist for weeks or even months. Bradycardia and hypotension, which can be life-threatening, are common. Treatment of ciguatera is primarily supportive and symptomatic. Intravenous mannitol (1 g/kg) has also been suggested. To prevent ciguatera outbreaks, the public should be educated to avoid eating large coral reef fishes, especially the CTX-rich parts. A Code of Practice on Import and Sale of Live Marine Fish for Human Consumption for Prevention and Control of Ciguatera Fish Poisoning was introduced from 2004 to 2013. The Food Safety Ordinance with a tracing mechanism came into full effect in February 2012. The Government would be able to trace the sources of the fishes more effectively and take prompt action when dealing with ciguatera incidents. PMID:25333356

Chan, Thomas Y. K.

2014-01-01

308

Cryptosporidiosis in HIV/AIDS patients in Kenya: clinical features, epidemiology, molecular characterization and antibody responses.  

PubMed

We investigated the epidemiological and clinical features of cryptosporidiosis, the molecular characteristics of infecting species and serum antibody responses to three Cryptosporidium-specific antigens in human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS) patients in Kenya. Cryptosporidium was the most prevalent enteric pathogen and was identified in 56 of 164 (34%) of HIV/AIDS patients, including 25 of 70 (36%) with diarrhea and 31 of 94 (33%) without diarrhea. Diarrhea in patients exclusively infected with Cryptosporidium was significantly associated with the number of children per household, contact with animals, and water treatment. Cryptosporidium hominis was the most prevalent species and the most prevalent subtype family was Ib. Patients without diarrhea had significantly higher serum IgG levels to Chgp15, Chgp40 and Cp23, and higher fecal IgA levels to Chgp15 and Chgp40 than those with diarrhea suggesting that antibody responses to these antigens may be associated with protection from diarrhea and supporting further investigation of these antigens as vaccine candidates. PMID:24865675

Wanyiri, Jane W; Kanyi, Henry; Maina, Samuel; Wang, David E; Steen, Aaron; Ngugi, Paul; Kamau, Timothy; Waithera, Tabitha; O'Connor, Roberta; Gachuhi, Kimani; Wamae, Claire N; Mwamburi, Mkaya; Ward, Honorine D

2014-08-01

309

Severe ?-1 antitrypsin deficiency caused by Q0(Ourém) allele: clinical features, haplotype characterization and history.  

PubMed

?-1 Antitrypsin deficiency (AATD) caused by null alleles is associated with the total lack of protein and generally it translates into more severe clinical features of pulmonary disease. This is the case of Q0(Ourém) , a rare variant found in several families of Central Portugal caused by the L353fsX376 mutation. A total of 41 patients carrying at least one copy of Q0(Ourém) were evaluated for SERPINA1 levels, respiratory function values and lung parenchyma status (chest X-ray and computerized tomography scan). Q0(Ourém) haplotype background was characterized using seven microsatellites flanking SERPINA1 and Q0(Ourém) age was estimated by a statistical method relying on the decay of haplotype sharing at linked markers (DHSMAP). Homozygous patients showed a compromised lung function and extensive emphysema. SQ0(Ourém) , although having serum levels below the 11 µM threshold, did not necessarily result in signs of disease. MQ0(Ourém) were found to be a heterogeneous group, mainly composed of normal individuals. Eight Q0(Ourém) haplotypes were identified and the allele was estimated to have arisen 650 years ago. Q0(Ourém) was associated with mild to severe AATD and has a single origin, probably linked to the major Ourém settlements where the occurrence of severe AATD may not be explained by recent consanguinity. PMID:21457231

Vaz Rodrigues, L; Costa, F; Marques, P; Mendonça, C; Rocha, J; Seixas, S

2012-05-01

310

Prognostic features and clinical presentation of acute idiopathic enterocolitis in horses.  

PubMed

Clinical and hematological changes observed on presentation of 47 horses referred to the Ontario Veterinary College with acute idiopathic colitis were analyzed for their prognostic features. Cases of acute enterocolitis were characterized by fever, dehydration, abnormalities of serum electrolyte concentrations, azotemia, hypoalbuminemia, and increased serum concentrations of muscle enzymes. Severely dehydrated horses were seven times more likely to die or be euthanized than those that were not dehydrated. Other factors associated with failure to survive included the following: increased hematocrit, increased number of band neutrophils, increased serum creatinine and urea concentrations, and decreased blood pH and increasingly negative base excess. The results of multivariate variable analysis (stepwise logistic regression) suggested that, among the variables tested, base excess was the best predictor of death or survival. Twenty of 47 horses died or were euthanized. Reasons for death or euthanasia included: severe disseminated intravascular coagulation, unresponsiveness of severe metabolic acidosis and hypoproteinemia to treatments, and severity of colonic lesions on exploratory laparotomy. Of the surviving horses, three developed chronic laminitis (two were destroyed) and five developed jugular vein thrombosis. Fourteen of 16 horses for which subsequent histories were available returned to normal function.Early recognition of the disease, combined with early and aggressive correction of dehydration and of acid-base imbalance, may be important determinants of survival in horses with acute idiopathic colitis. PMID:17423769

Staempfli, H R; Townsend, H G; Prescott, J F

1991-04-01

311

Distinctive clinical and histological features of Waldenström's macroglobulinemia and splenic marginal zone lymphoma.  

PubMed

We studied 122 patients with Waldenström's macroglobulinemia (WM) and 98 with splenic marginal zone lymphoma (SMZL); 29 SMZL patients (30%) had a serum MC (IgM in 17 patients). SMZL differed from WM for female prevalence, abdominal and superficial adenopathy, spleen and liver involvement, positive HCV. The median MC level was 2.0 g/dL in WM and 0.95 g/dL in SMZL (P<.001). On BM histology, SMZL was characterized by sinusoidal infiltration (70% of cases) and by a more frequent nodular pattern (P<.01) while WM had a higher incidence of interstitial BM localization. After a median follow-up of 5.3 years, median OS was not reached for SMZL and was 12 years for WM (P=.23; 14 years for asymptomatic WM, 8 years for symptomatic WM). In conclusion, despite similar outcomes of these 2 entities, SMZL appears as a disease with distinct clinical features and BM histology and a peculiar association with HCV infection. PMID:21454204

Arcaini, Luca; Varettoni, Marzia; Boveri, Emanuela; Orlandi, Ester; Rattotti, Sara; Zibellini, Silvia; Merli, Michele; Lucioni, Marco; Rizzi, Silvia; Gotti, Manuel; Morello, Lucia; Pascutto, Cristiana; Paulli, Marco

2011-02-01

312

Clinical Features of Abdominopelvic Actinomycosis: Report of Twenty Cases and Literature Review  

PubMed Central

Purpose Intrabdominal actinomycosis is difficult to diagnose preoperatively. This chronic infection has a propensity to mimic many other diseases and may present with a wide variety of symptoms. The aim of this study was to evaluate the characteristic clinical features with review of the literature. Materials and Methods We retrospectively analyzed 22 patients with intrabdominal actinomycosis between January 2000 and January 2006. Results There were two men and 20 women with a mean age of 42.8 years (range, 24 - 69). Twelve patients presented with masses or abdominal pain, whereas 3 patients presented with acute appendicitis. The rate of performing an emergency surgery was 50% due to symptoms of peritonitis. The mean size of tumor was 5.5 cm (range, 2.5 - 11.0). Sixty percent (n = 12) of female patients had intrauterine device (IUD). The average time to definite diagnosis was 10.6 days. Conclusion Intrabdominal abdominal actinomycosis must first be suspected in any women with a history of current or recent IUD use who presents abdominal pain. If recognized preoperatively, a limited surgical procedure, may spare the patient from an extensive operation. PMID:19718405

Choi, Myung-Min; Beak, Jeong Heum; Lee, Jung Nam; Park, Sanghui

2009-01-01

313

Clinical Features of Abdominal Actinomycosis: A 15-year Experience of A Single Institute  

PubMed Central

This study was designed to evaluate the clinical features of abdominal actinomycosis and to assess its therapeutic outcome. We reviewed patients with abdominal actinomycosis in Seoul St. Mary hospital, between January 1994 and January 2010. Twenty-three patients (5 male and 18 female, mean age, 47.8 yr; range, 6-75 yr), with abdominal actinomycosis were included. Emergency surgery was performed in 50% due to symptoms of peritonitis. The common presentation on preoperative computerized tomography was a mass with abscess, mimicking malignancy. The mean tumor size was 7.0 cm (range, 2.5-10.5). In all patients, actinomycotic masses were surgically removed. Mean duration of hospital stay was 17.8 days (range, 5-49). Long term oral antibiotic treatment (mean 4.2 months; range, 0.5-7.0 months) were administered to all patients. All patients were free of recurrence after a median follow up of 30.0 months (mean 35.5 ± 14.8 months, range, 10.0-70.0 months); recurrence was not seen in any patient. In conclusion, abdominal actinomycosis should be included as a differential diagnosis when an unusual abdominal mass or abscess presents on abdominal CT. Assertive removal of necrotic tissue with surgical drainage and long term antibiotic treatment provide a good prognosis in patients with actinomycosis. PMID:21738348

Sung, Hye Young; Lee, In Seok; Kim, Sang Il; Jung, Seung Eun; Kim, Sang Woo; Kim, Su Young; Chung, Mun Kyung; Kim, Won Chul; Oh, Seong Tack

2011-01-01

314

Clinical features of patients with non-Hodgkin’s lymphoma metastasizing to the pituitary glands  

PubMed Central

It is rare for systemic non-Hodgkin’s lymphoma (NHL) to metastasize to the hypothalamus and pituitary glands. The present study describes two patients with NHL and diabetes insipidus (DI) and 17 patients from the literature in order to analyze the clinical features of patients with NHL metastasizing to the pituitary glands. Diffuse large B cell lymphoma (DLBCL) was observed to be the most common type of NHL involving the hypothalamus-pituitary axis. A total of 11 patients (57.9%) had been diagnosed with DI (post-pituitary involvement), five (26.3%) with anterior hypopituitarism and three (15.8%) with posterior and anterior hypopituitarism. Only two cases exhibited simultaneous endocrine and lymphoma manifestations; the majority of cases (68.4%) exhibited lymphoma manifestations first. To make an etiological diagnosis of NHL with metastases to the pituitary glands, it is necessary to find that NHL exists in other regions of patient’s body. Biopsy of the sellar may have significant meaning, but this examination may difficult to perform. Chemotherapy for NHL relieves pituitary impairment symptoms and improves the overall examination results. Additionally, magnetic resonance imaging (MRI) of the pituitary gland has a certain differential diagnostic value as the T1- and T2-weighted imaging (WI) signals from patients with systemic NHL with pituitary involvement are low. PMID:23760877

YANG, JUNJIE; ZHAO, NA; ZHANG, GUANGSEN; ZHENG, WENLI

2013-01-01

315

Familial and sporadic breast cancers: differences in clinical, histopathological, and immunohistochemical features.  

PubMed

In the present study, the authors investigated the clinical, histopathological, and immunohistochemical features in familial breast cancer (FBC) patients and compared them with findings in sporadic breast cancers (SBCs); hormone receptor status was stratified by age. A total of 849 patients treated for breast cancer were included in the study. The patients were stratified into 2 groups: FBC, 160 patients (19%), and SBC, 689 patients (81%). FBC tumors differed from SBC tumors by earlier age of diagnosis and low content of progesterone receptor (PR). These characteristics should be of value in evaluating the possibility of mutation and in targeting mutation screening in such families. PR gene polymorphism leads to an increased risk of breast cancer because it determines inadequate control of estrogen receptor (ER)-driven proliferative function. ER+/PR- tumors more frequently showed HER2 (human epidermal growth factor receptor) overexpression and represent a distinct subset in FBC patients. The authors suggest that late-onset FBCs need more intensive therapy and a more careful follow-up. PMID:20308044

D'Eredita', Giovanni; Giardina, Carmela; Napoli, Anna; Troilo, Vito Leopoldo; Fischetti, Fernando; Berardi, Tommaso

2011-12-01

316

Epidemiology and clinical features of ciguatera fish poisoning in Hong Kong.  

PubMed

In the present review, the main objective was to describe the epidemiology and clinical features of ciguatera fish poisoning in Hong Kong. From 1989 to 2008, the annual incidence of ciguatera varied between 3.3 and 64.9 (median 10.2) per million people. The groupers have replaced the snappers as the most important cause of ciguatera. Pacific-ciguatoxins (CTX) are most commonly present in reef fish samples implicated in ciguatera outbreaks. In affected subjects, the gastrointestinal symptoms often subside within days, whereas the neurological symptoms can persist for weeks or even months. Bradycardia and hypotension, which can be life-threatening, are common. Treatment of ciguatera is primarily supportive and symptomatic. Intravenous mannitol (1 g/kg) has also been suggested. To prevent ciguatera outbreaks, the public should be educated to avoid eating large coral reef fishes, especially the CTX-rich parts. A Code of Practice on Import and Sale of Live Marine Fish for Human Consumption for Prevention and Control of Ciguatera Fish Poisoning was introduced from 2004 to 2013. The Food Safety Ordinance with a tracing mechanism came into full effect in February 2012. The Government would be able to trace the sources of the fishes more effectively and take prompt action when dealing with ciguatera incidents. PMID:25333356

Chan, Thomas Y K

2014-10-01

317

Clinical features, outcomes and treatment-related pneumonitis in elderly patients with esophageal carcinoma  

PubMed Central

AIM: To investigate the clinical features and prognoses of elderly patients with esophageal carcinoma and to compare the effects of radiotherapy and rates of treatment-related pneumonitis (TRP) between elderly and non-elderly patients. METHODS: A total of 236 patients with esophageal carcinoma who received radiotherapy between 2002 and 2012 were enrolled. The patients were divided into two groups: an elderly group (age ? 65 years) and a non-elderly group (age < 65 years). The tumor position and stage, lymph node and distant metastases, and incidence and severity of TRP were compared. Multivariate analysis was applied to identify independent prognostic factors. RESULTS: The median overall survival times after radiotherapy in the elderly and non-elderly groups were 18.5 and 20.5 mo, respectively. Cox regression analysis showed that TRP grade and tumor-node-metastasis (TNM) stage were independent prognostic factors in the elderly group. High-dose radiotherapy (> 60 Gy) was associated with a high incidence of TRP. Tumor TNM staging was significantly different between the two groups in which TRP occurred. Multivariate analysis showed that TNM stage was an independent prognostic factor. Esophageal carcinoma in elderly patients was relatively less malignant compared with that in non-elderly patients. CONCLUSION: An appropriate dose should be used to decrease the incidence of TRP in radiotherapy, and intensity modulated radiation therapy should be selected if possible. PMID:25278715

He, Jian; Zeng, Zhao-Chong; Shi, Shi-Ming; Yang, Ping

2014-01-01

318

Intraductal papillary-mucinous tumors of the pancreas: Clinicopathologic features, outcome, and nomenclature. Members of the Pancreas Clinic, and Pancreatic Surgeons of Mayo Clinic  

Microsoft Academic Search

BACKGROUND & AIMS: Intraductal papillary-mucinous tumor (IPMT) of the pancreatic ducts is increasingly recognized. This study investigated if clinical, imaging, or, histological features predicated outcome, formulated a treatment algorithm, and clarified relationships among IPMT, mucinous cystic neoplasms of the pancreas (MCN), and chronic pancreatitis. METHODS: The medical records, radiographs, and pathological specimens of 15 patients with IPMT (dilated main pancreatic

EV Loftus; BA Olivares-Pakzad; KP Batts; MC Adkins; DH Stephens; MG Sarr; EP DiMagno

1996-01-01

319

Visceral leishmaniasis in Iran: Review of the Epidemiological and Clinical Features  

PubMed Central

Visceral leishmaniasis (VL) is a life-threatening vector-borne parasitic disease is distributed in some parts of the new world and old world. The disease is endemic in different parts of Iran. This review article has been focused on major topics of epidemiological aspects and clinical features of VL in Iran for the period of 2002 through 2012. For the detection of VL in humans as well as animal reservoir hosts, anti-Leishmania antibodies were detected using direct agglutination test (DAT) as a validated serological test. Parasitological examinations were performed on suspected VL patients as well as canines and rodents. Different molecular methods were used for identification of species and genotype/ or strain of Leishmania spp. isolated from infected humans, animal reservoir hosts and vectors. Altogether, 1698 out of 36081 (4.7%) human serum samples collected from 5 distinct geographical zones showed anti-Leishmania antibodies at titers ? 1:3200 using DAT. The majority of VL cases in the endemic areas were found among children up to 12 years old. Almost 75% of DAT-positive cases (?1:3200) in endemic areas showed clinical signs and symptoms. Predominant signs and symptoms in 217 hospitalized patients with DAT positive (?1:3200) results included paleness (99.5%), fever (96.9%), splenomegaly (91.5%), hepatomegaly (53.6%) and lymphadenopathy (21.1%). Integrated VL surveillance system in primary care using DAT, could decrease mortality and morbidity of the disease in the VL endemic areas of the northwestern Iran. Out of 7204 serum samples collected from domestic dogs in various geographical locations of Iran, 879 (12.2%) were DAT sero-positive at titers ? 1:320. L. infantum as the principal causative agent of the disease was isolated from infected humans, domestic and wild canines and rodents. The principal animal reservoir hosts of the infection are domestic and wild canines. Ph. kandelakii, Ph. perfiliewi transcaucasicus, Ph. tobbi in northwestern Iran; Ph. major s.l. (=Ph. neglectus), Ph. keshishiani, and Ph. alexandri in southern parts of Iran were molecularly and/or parasitologically positive for L. infantum infections. The zoonotic form of VL (ZVL) caused by L. infantum occurs sporadically in all geographical zones of Iran but in northwestern and southern parts of the country the disease is endemic. DAT as an appropriate and potential tool has been used for sero-diagnosis and sero-epidemiological of VL among humans as well as domestic and wild canines. PMID:24454426

Mohebali, Mehdi

2013-01-01

320

Parkinson disease and impulse control disorders: a review of clinical features, pathophysiology and management.  

PubMed

Impulse control disorders (ICDs) are a heterogeneous group of conditions involving repetitive, excessive and compulsive activities that interfere with life functioning. Examples are pathological gambling, compulsive shopping and hypersexuality. Over the last decade, ICDs have become increasingly recognised as being associated with Parkinson disease (PD), with the literature highlighting a link between dopamine replacement therapy and the development of ICDs. Patients who develop ICDs in the context of compulsive anti-Parkinsonian drug use are described as having dopamine dysregulation syndrome (DDS), which is associated with repetitive complex stereotyped behaviours called punding. Case-control and observational studies have further noted that patients with PD who develop ICDs are more likely to have younger-onset PD, a history of alcohol dependence, novelty-seeking personality traits and psychiatric comorbidities. The pathophysiology of underlying mechanisms is not fully understood, but recent evidence suggests that dopaminergic drugs, particularly dopamine agonists, coupled with changes in reward pathways involving the ventral striatal and related circuitry, may play a role. Neuroimaging studies using positron emission tomography and functional MRI have provided valuable information in this area: patients with DDS have been found to show enhanced dopamine release in the ventral striatum, suggesting functional abnormalities in the mesolimbic networks. Management of ICDs in patients with PD can be challenging, as they may not be aware of a change in their behaviour or may conceal their symptoms to avoid embarrassment. Currently, there is no clear evidence of an optimal treatment. Management is based on a careful balance of dopaminergic drugs with control of the aberrant behaviour, supported by psychological interventions. This review aims to summarise the current literature on ICDs, their phenomenology, epidemiology, clinical features, pathophysiology and management. PMID:19892894

Wu, K; Politis, M; Piccini, P

2009-11-01

321

Clinical features associated with adverse events in patients with post-pericardiotomy syndrome following cardiac surgery.  

PubMed

Postpericardiotomy syndrome (PPS) may be associated with tamponade and pericardial constriction that may require procedural intervention. The aim of this study was to identify clinical features associated with adverse events requiring procedural intervention in patients with PPS. A total of 239 patients who developed PPS after cardiac surgery were monitored for 12 months. PPS was diagnosed if 2 of the 5 following findings were present: fever without infection, pleuritic pain, friction rub, pleural effusion, and pericardial effusion (<60 days after surgery). The primary end point was the development of pericardial effusion or pericardial constriction requiring procedural intervention. Among 239 patients with PPS, 75 (31%) required procedural intervention. In a univariate analysis, the odds of a procedural intervention were decreased with older age (odds ratio [OR] 0.98, 95% confidence interval [CI] 0.96 to 0.99) and with colchicine used in combination with anti-inflammatory agents (OR 0.45, 95% CI 0.26 to 0.79). However, the odds were increased in patients with preoperative heart failure (OR 1.84, 95% CI 1 to 3.39) and early postoperative constrictive physiology (OR 5.77, 95% CI 2.62 to 12.7). After multivariate adjustment, treatment with colchicine along with anti-inflammatory agents was associated with lower odds of requiring intervention (OR 0.43, 95% CI 0.95 to 0.99). Independent positive predictors of procedural intervention included age (OR 0.97, 95% CI 0.95 to 0.99), time to PPS (OR 0.97, 95% CI 0.95 to 0.99), and early postoperative constrictive physiology (OR 6.23, 95% CI 2.04 to 19.07). In conclusion, younger age, early-onset PPS, and postoperative constrictive physiology were associated with the need for procedural intervention in patients with PPS, whereas colchicine was associated with reduced odds of adverse events and procedural intervention. PMID:25306427

Alraies, M Chadi; Al Jaroudi, Wael; Shabrang, Cyrus; Yarmohammadi, Hirad; Klein, Allan L; Tamarappoo, Balaji K

2014-11-01

322

Clinical, endocrinologic, and ultrasonographic features of polycystic ovary syndrome in Singaporean adolescents.  

PubMed

The study sought to evaluate the clinical, endocrinologic, and ultrasonographic features in 150 Singaporean adolescent girls with polycystic ovary syndrome (PCOS) before and after treatment, which was composed primarily of a combined hormone therapy of estrogen and cyproterone acetate. The patients' ages ranged from 12 to 22 years with the majority between 15 and 18 years of age. Most of these girls were seen between their third and fifth gynecologic year. A considerable proportion of them had matured early, experiencing menarche between 9 and 12 years of age. Tanner staging was normal except for a greater proportion at higher stages for pubic and axillary hair, most likely a reflection of the substantial degree of androgenization commonly found in subjects with PCOS. All 150 patients presented with menstrual disorders including secondary amenorrhea, menarche only, anovulatory uterine bleeding, oligomenorrhea, and primary amenorrhea. The majority had normal body weight; 10% to 27% were either underweight or overweight, respectively. On ultrasound, patients presented with enlarged ovaries; enlargement was more pronounced in the right ovary with dense stroma and multiple subcapsular cysts. Many subjects had elevated androgen, luteinizing hormone (LH), and LH/ follicle-stimulating hormone (FSH) levels. Although characteristic of PCOS, FSH levels were either low or normal. Prolactin, estradiol, dehydroepiandrosterone sulfate (DHEAS), and androstenedione were generally normal. A substantial proportion of the study group had elevated cortisol levels. It was noted that adolescent girls with PCOS responded well to treatment; more than 60% showed improvement in cycle profiles following at least 1 year of treatment. Our current opinion is that adolescents with PCOS should be managed early, and that treatment should include medical correction of any hormonal or body-weight imbalance and include psychologic intervention when necessary. PMID:9288656

Dramusic, V; Goh, V H; Rajan, U; Wong, Y C; Ratnam, S S

1997-08-01

323

Clinical Features of Bronchioloalveolar Carcinoma with New Histologic and Staging Definitions  

PubMed Central

Introduction To assess clinical features of bronchioloalveolar carcinoma (BAC) based upon the 1999 WHO Classification (“pure BAC”), compare pure BAC patients with patients previously diagnosed as BAC not meeting the 1999 definition, and compare survival changes of pure BAC based on the old and new (2009) staging systems. Methods A pulmonary pathologist reviewed each BAC tumor diagnosed between January 1, 1997 and December 31, 2007 identifying cases meeting the new criteria. Cases were restaged according to the seventh edition of the TNM classification introduced in 2009. Pure BAC patients were analyzed under both staging systems for changes in overall survival estimation. Results Of 338 total patients who were diagnosed with BAC, 117 were classified as pure and 221 were non pure BAC. Seventy-eight of the 117 and 178 of the 221 had no other primary lung cancer. One-year and five-year survival for the 78 pure BAC patients were 94.8% and 83.5%, and for the 178 patients were 92.6% and 46.4%, respectively. Restaging for pure BAC cases resulted in 9 of the 78 cases (12%) changing stage. Compared to the old staging, patients with advanced stage under the new stage had a worse 5-year survival (53% vs. 45%) but no change was observed for stage IA. Conclusions For patients with pure BAC, the new pathologic system favorably affects survival and the new staging system may more accurately reflect prognosis in advanced stage cancer. Our results have important implications for researchers, clinicians, and patients. PMID:20592627

Ebbert, Jon O.; Chhatwani, Laveena; Aubry, Marie Christine; Wampfler, Jason; Stoddard, Shawn; Zhang, Fang; Qiao, Guibin; de Andrade, Mariza; Yang, Ping

2010-01-01

324

Cytomegalovirus in liver biopsies of marrow transplant recipients: detection methods, clinical, histological and immunohistological features.  

PubMed

In a retrospective analysis liver biopsy specimens obtained from 44 marrow transplant recipients were studied to evaluate the frequency of local presence of human cytomegalovirus (CMV) and graft-versus-host disease (GvHD)-like histological and immunohistological alterations in patients with and without liver dysfunction following bone marrow transplantation (BMT). In 22 of 28 patients with marked liver dysfunction after BMT and histopathological alterations described as typical for acute GvHD CMV could be detected in the liver biopsy specimen. The polymerase chain reaction (PCR) technique revealed the highest sensitivity for CMV detection in liver biopsy samples, but in 20 of 22 PCR-positive specimens CMV infection could be confirmed by at least one additional technique. All the liver biopsies obtained from 16 patients with normal liver function lacking histopathological signs of GvHD were CMV negative. In all 3 patients with CMV-positive liver biopsy started on antiviral therapy liver function improved and no generalized CMV disease occurred. All the 4 patients without local presence of CMV started on severe immunosuppressive therapy showed an improvement of liver dysfunction without occurrence of CMV infection. Local CMV infection of the liver could not be differentiated from hepatic GvHD by clinical and histopathological features, nor by immunohistological analysis of the bile duct epithelium. In contrast, only in liver biopsy with local viral presence could an increase in HLA class II- and ICAM-1 expression be demonstrated on hepatocytes. Thus, especially the high negative predictive value of the PCR technique helps to manage the patient with liver dysfunction after BMT. PMID:7845317

Einsele, H; Waller, H D; Weber, P; Frickhofen, N; Dette, S; Horny, H P; Roos, A; Roos, H; Hebart, H; Schmidt, H

1994-09-01

325

Clinical features and outcomes of vitrectomy in pediatric ocular injuries-eye injury vitrectomy study  

PubMed Central

Context: Severe pediatric ocular injury remains a frequent and difficult problem. Vitrectomy is a major technique that has been used to manage severely damaged eyes. However, limited follow-up studies exist currently. Aims: To evaluate the clinical features and predictive factors of visual and anatomic outcomes in Eye Injury Vitrectomy Study (EIVS). Settings and Design: Retrospective, consecutive, interventional case series. Materials and Methods: Reviewing and analyzing records of children, aged 15 years or younger, who had undergone vitrectomy for eye injuries in EIVS database between January 1997 and December 2009. Statistical analysis used: Descriptive analyses and multiple Logistic regressions were employed for all variables using SPSS software (version 17.0, SPSS Inc.). Results: Eighty-seven children (89 eyes) with more than 6 months follow-up and complete records identified in EIVS were included in this study. Average follow-up was 12.7 months. The mean age was 9.4 ± 3.8 years. Seventy-seven eyes (86.5%) had open globe injuries, and 12 (13.5%) had closed globe injuries. Seventeen eyes (19.3%) presented with endophthalmitis. Seventy-five eyes (88.2%) presented with visual acuity of 4/200 or worse; however, 42 eyes (47.7%) achieved 4/200 or better vision with anatomical restoration after vitrectomy. Multiple analysis showed that choroidal damage, large scleral wound, and endophthalmitis were significantly associated with unfavorable outcome, the OR values were 16.7 (95% CI: 2.7-102.4, P = 0.002), 10.9 (95% CI: 1.7-71.6, P = 0.013), and 6.6 (95% CI: 1.0-42.4, P = 0.048), respectively. Conclusions: Vitrectomy intervention resulted in favorable visual and anatomic outcomes in almost half of the injured eyes. Choroidal damage, large scleral wound, and endophthalmitis were the prognostic indicators of unfavorable outcome. PMID:24178406

Feng, Xuefeng; Feng, Kang; Hu, Yuntao; Ma, Zhizhong

2014-01-01

326

Clinical features of airway malacia in children: a retrospective analysis of 459 patients  

PubMed Central

Aim: To investigate the clinical features of airway malacia in children. Material and methods: A comprehensive analysis was done on information of 459 young patients with airway malacia. Results: Number of children with tracheomalacia, tracheobronchomalacia, and bronchomalacia was 7 (1.5%), 17 (3.7%), and 435 (94.8%), respectively. Incidence of bronchomalacia in left lung was 11.0% (n=48), while that of right lung was 53.3% (n=232). Meanwhile, bronchomalacia of both lungs were noticed in 155 children (35.6%). With regards to the extent of malacia, number of children with slight, moderate and severe malacia was 226, 195, and 38, respectively. All the children enrolled in this study were diagnosed with pulmonary infection, among which 376 were diagnosed with ordinary pneumonia, 83 were diagnosed with severe pneumonia. 227 children showed a disease course of less than 1 month, while 201 children reported a disease course of 1~3 months, and 31 children reported a disease course of more than 3 months. Statistical difference was noticed in the disease condition of respiratory tract infection of patients with various malacia extent (P < 0.05). Re-check of fiberoptic bronchoscopy was performed in 19 patients, among which 14 patients (73.7%) showed improvement compared with the previous conditions. Conclusion: Airway malacia has been frequently noticed in male children aged ? 2 years old. Patients with severe airway malacia were apt to develop severe pneumonia compared with those with slight or moderate malacia. Improvements or even elimination of malacia were noticed with the aging of the children and the anti-infection therapy. PMID:25356175

Pan, Wei; Peng, Donghong; Luo, Jian; Liu, Enmei; Luo, Zhengxiu; Dai, Jihong; Fu, Zhou; Li, Qubei; Huang, Ying

2014-01-01

327

Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV.  

PubMed

Ehlers-Danlos syndrome (EDS) is a hereditary disorder of the connective tissue. EDS type IV (EDS IV), the vascular type of the disease, is characterized by easy bruising, thin skin with visible veins, and spontaneous rupture of the large arteries, uterus, or bowel. EDS IV is caused by mutations in the gene for type III procollagen (COL3A1). However, recent studies suggest that the causative mutation of EDS IV is not homogeneous. We report our experience with three patients presenting with clinical features of type IV EDS. A 48-yr-old woman presented with acute aortic dissection (patient 1) and 36-yr-old and 21-yr-old women presented with carotidcavernous fistula (patients 2 and 3, respectively). All three patients bruised easily. Two patients (patients 1 and 3) had thin transparent skin with visible veins. Genetic analysis of COL3A1 revealed a Gly732Val (c.2195G>T) mutation in patient 1 and a duplication of 15 base pairs (c.3221_3235dup) which resulted in an interposition of five amino acids (p.Gly1074_Pro1078dup) in patient 2. However, no mutations were observed in COL3A1 or transforming growth factor beta receptors 1 and 2 in patients 3, which might be either due to a deletion of single or multiple exons in the COL3A1 gene or due to a genetic heterogeneity. This is the first report of genetically confirmed cases of EDS IV in Korea. PMID:17728513

Yang, Jeong Hoon; Lee, Seung Tae; Kim, Jee Ah; Kim, Sung Hae; Jang, Shin Yi; Ki, Chang Seok; Kim, Duk Kyung

2007-08-01

328

Epidemiology, Clinical Features and Outcome of Liver Abscess: A single Reference Center Experience in Qatar  

PubMed Central

Objective To describe the etiology, clinical presentation, management and outcome of liver abscess in adult patients admitted at Hamad general hospital, Qatar. Methods A cross sectional study was conducted to involve all adult patients who sequentially encountered episodes of liver abscess during the period from January 1, 2009, to December 31, 2010. Blood cultures were drawn from all patients in the first 24 hours after admission. In addition, all patients had stool examinations and indirect Hemagglutination test for Entameba histolytica. Aspiration of abscess was done under CT guidance and aspirated pus was sent for gram stain and culture. Results In total, 67 patients were admitted with liver abscess; 56 patients with pyogenic liver abscess and 11 with amebic liver abscess. There were 61 (91%) males and six (9%) females and their mean age was 47.4 ± 18.5 years. Fever, abdominal pain and vomiting were the commonest presenting features. Of the 56 pyogenic liver abscess patients, four discharged against medical advice and seven refused all invasive procedures and were treated with antibiotics for six weeks. The remaining 44 (79%) patients were treated with antibiotics and one or more invasive procedures, while one patient was treated surgically. The commonest organism isolated was Klebseilla pneumonia found in 21 patients (38%). The mean duration of hospitalization was 13.6 ± 8.1 days; the mean duration of antibiotic therapy was 34.7 ± 40.6 days, and one patient died. In contrast, all amebic liver abscess patients underwent ultrasound guided aspiration and showed good response to metronidazole treatment. Their mean duration of hospitalization was 7.7 ± 4.1 days, mean duration of therapy was 11.8 ± 2.1 days, and all patients were cured. Conclusion Pyogenic liver abscess was more common than amebic liver abscess with Klebseilla pneumonia being the commonest organism. With good medical measures and early drainage of liver abscess, surgical intervention was unnecessary in almost all the cases. PMID:25170406

Abbas, Mushtak Talib; Khan, Fahmi Yousef; Muhsin, Saif A.; Al-Dehwe, Baidaa; Abukamar, Mohamed; Elzouki, Abdel-Naser

2014-01-01

329

Sleep Disorders in Parkinson's Disease: Clinical Features, Iron Metabolism and Related Mechanism  

PubMed Central

Objective To investigate clinical features, iron metabolism and neuroinflammation in Parkinson’s disease (PD) patients with sleep disorders (SD). Methods 211 PD patients were evaluated by Pittsburgh Sleep Quality Index (PSQI) and a body of scales for motor symptoms and non-motor symptoms. 94 blood and 38 cerebral spinal fluid (CSF) samples were collected and iron and its metabolism-relating proteins, neuroinflammatory factors were detected and analyzed. Results 136 cases (64.5%) of PD patients were accompanied by SD. Factor with the highest score in PSQI was daytime dysfunction. Depression, restless leg syndrome, autonomic symptoms and fatigue contributed 68.6% of the variance of PSQI score. Transferrin level in serum and tumor necrosis factor–? level in CSF decreased, and the levels of iron, transferrin, lactoferrin and prostaglandin E2 in CSF increased in PD patients with SD compared with those without SD. In CSF, prostaglandin E2 level was positively correlated with the levels of transferrin and lactoferrin, and tumor necrosis factor–? level was negatively correlated with the levels of iron, transferrin and lactoferrin in CSF. Conclusions Depression, restless leg syndrome, autonomic disorders and fatigue are the important contributors for the poor sleep in PD patients. Abnormal iron metabolism may cause excessive iron deposition in brain and be related to SD in PD patients through dual potential mechanisms, including neuroinflammation by activating microglia and neurotoxicity by targeting neurons. Hence, inhibition of iron deposition-related neuroinflammation and neurotoxicity may cast a new light for drug development for SD in PD patients. PMID:24376607

Yu, Shu-yang; Sun, Li; Liu, Zhuo; Huang, Xi-yan; Zuo, Li-jun; Cao, Chen-jie; Zhang, Wei; Wang, Xiao-min

2013-01-01

330

Molecular epidemiology and clinical features of human T cell lymphotropic virus type 1 infection in Spain.  

PubMed

Human T cell lymphotropic virus type 1 (HTLV-1) infection in Spain is rare and mainly affects immigrants from endemic regions and native Spaniards with a prior history of sexual intercourse with persons from endemic countries. Herein, we report the main clinical and virological features of cases reported in Spain. All individuals with HTLV-1 infection recorded at the national registry since 1989 were examined. Phylogenetic analysis was performed based on the long terminal repeat (LTR) region. A total of 229 HTLV-1 cases had been reported up to December 2012. The mean age was 41 years old and 61% were female. Their country of origin was Latin America in 59%, Africa in 15%, and Spain in 20%. Transmission had occurred following sexual contact in 41%, parenteral exposure in 12%, and vertically in 9%. HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) was diagnosed in 27 cases and adult T cell leukemia/lymphoma (ATLL) in 17 subjects. HTLV-1 subtype could be obtained for 45 patients; all but one belonged to the Cosmopolitan subtype a. One Nigerian pregnant woman harbored HTLV-1 subtype b. Within the Cosmopolitan subtype a, two individuals (from Bolivia and Peru, respectively) belonged to the Japanese subgroup B, another two (from Senegal and Mauritania) to the North African subgroup D, and 39 to the Transcontinental subgroup A. Of note, one divergent HTLV-1 strain from an Ethiopian branched off from all five known Cosmopolitan subtype 1a subgroups. Divergent HTLV-1 strains have been introduced and currently circulate in Spain. The relatively large proportion of symptomatic cases (19%) suggests that HTLV-1 infection is underdiagnosed in Spain. PMID:24924996

Treviño, Ana; Alcantara, Luiz Carlos; Benito, Rafael; Caballero, Estrella; Aguilera, Antonio; Ramos, José Manuel; de Mendoza, Carmen; Rodríguez, Carmen; García, Juan; Rodríguez-Iglesias, Manuel; Ortiz de Lejarazu, Raúl; Roc, Lourdes; Parra, Patricia; Eiros, José; del Romero, Jorge; Soriano, Vincent

2014-09-01

331

North Carolina macular dystrophy: clinical features, genealogy, and genetic linkage analysis.  

PubMed Central

PURPOSE: To study the North Carolina macular dystrophy phenotype (MCDR1) in multiple families of different ethnic backgrounds, to determine the genetic relationships of these families, and to determine the minimal candidate region of the MCDR1 gene. METHODS: Thirteen families with the North Carolina MCDR1 were ascertained. These families were of various ethnic and geographic origins, such as Caucasian, Mayan Indian, African American, French, British, German, and American. Extensive genealogical investigations were performed for all families. A total of 232 members of these families underwent comprehensive ophthalmic examinations, including blood collection for genotyping. Of these, 117 were found to be affected with the disorder. Genetic linkage simulation studies were performed using the computer program SIMLINK. Two-point linkage analysis, haplotype analysis, and multipoint linkage analyses were performed using the computer programs M-LINK, VITESSE, and FASTLINK. RESULTS: The clinical features were consistent with the diagnosis of North Carolina macular dystrophy in all families studied. Multipoint linkage analysis and haplotype analysis indicate that the MCDR1 gene is in the 1.1-centimorgan (cM) interval between the genetic markers D6D249 and D6S1671, with a maximum LOD score of 40.03. There was no evidence of genetic heterogeneity. Families 765, 768, 772, 1193, and 1292 shared the same chromosomal haplotype in this region, suggesting they are the result of the same ancestral mutation. The remaining families each likely represent independent origins of the mutation in the MCDR1 gene. North Carolina macular dystrophy is present worldwide and does not emanate from a single founder from North Carolina. Images FIGURE 2 FIGURE 3 FIGURE 4 FIGURE 5 FIGURE 6 FIGURE 7 FIGURE 9 FIGURE 10 FIGURE 11 FIGURE 12 FIGURE 14 FIGURE 15 FIGURE 17 FIGURE 18 FIGURE 20 FIGURE 22 FIGURE 23 FIGURE 25 FIGURE 26 FIGURE 28 FIGURE 29 FIGURE 31 FIGURE 34 PMID:10360311

Small, K W

1998-01-01

332

Quantitation of Bacteria in Bone Marrow from Patients with Typhoid Fever: Relationship between Counts and Clinical Features  

Microsoft Academic Search

Enteric fever is the only bacterial infection of humans for which bone marrow examination is routinely recommended. A prospective study of the concentrations of bacteria in the bone marrow and their relationship to clinical features was conducted with 120 Vietnamese patients with suspected enteric fever, of whom 89 had confirmed typhoid fever. Ninety-three percent of the Salmonella enterica serovar Typhi

JOHN WAIN; PHAN VAN BE; NGUYEN M. DUONG; AMANDA L. WALSH; CHRISTOPHER M. PARRY; ROBERT P. HASSERJIAN; VO ANH HO; TRAN T. HIEN; JEREMY FARRAR; NICHOLAS J. WHITE; NICHOLAS P. J. DAY

333

Quantitation of Bacteria in Bone Marrow from Patients with Typhoid Fever: Relationship between Counts and Clinical Features  

Microsoft Academic Search

Enteric fever is the only bacterial infection of humans for which bone marrow examination is routinely recommended. A prospective study of the concentrations of bacteria in the bone marrow and their relationship to clinical features was conducted with 120 Vietnamese patients with suspected enteric fever, of whom 89 had confirmed typhoid fever. Ninety-three percent of the Salmonella enterica serovar Typhi

JOHN WAIN; P. V. B. Bay; H. Vinh; N. M. Duong; T. S. Diep; A. L. Walsh; C. M. Parry; R. P. Hasserjian; V. A. Ho; T. T. Hien; J. Farrar; N. J. White; N. P. J. Day

2001-01-01

334

Clinical Features: Males with MCT8-specific thyroid hormone cell transporter (THCT) deficiency [OMIM #30523], also known as  

E-print Network

6/11 Clinical Features: Males with MCT8-specific thyroid hormone cell transporter (THCT) deficiency retardation with high serum T3, and thyroid hormone cell transport defect, have severe developmental delay females have only mild thyroid hormone abnormalities but no neuropsychiatric defects [1]. Patients

Ober, Carole

335

Recurrent TET2 mutations in Peripheral T-Cell Lymphomas correlate with TFH-like features and adverse clinical parameters.  

E-print Network

-NOS, a heterogeneous group of lymphoma comprising cases likely to derive from T helper follicular (TFH) cells similarly1 Recurrent TET2 mutations in Peripheral T-Cell Lymphomas correlate with TFH-like features-cell lymphomas (PTCL). We investigated the presence of TET2 coding sequence mutations and their clinical

Paris-Sud XI, Université de

336

Clinical features of invasive bronchial-pulmonary aspergillosis in critically ill patients with chronic obstructive respiratory diseases: a prospective study  

Microsoft Academic Search

INTRODUCTION: Critically ill patients with chronic obstructive respiratory diseases (CORD) who require intensive care unit (ICU) admission are at particular risk for invasive bronchial-pulmonary aspergillosis (IBPA). The purpose of this study is to investigate clinical features for rapid recognition of IBPA in critically ill patients with CORD. METHODS: We included 55 consecutive CORD patients in a respiratory ICU in a

Hangyong He; Lin Ding; Fang Li; Qingyuan Zhan

2011-01-01

337

Clinical Features: Permanent neonatal diabetes: Neonatal diabetes is hyperglycemia that presents at 0-6 months of age  

E-print Network

and require insulin treatment throughout life. PNDM does not include autoimmune diabetes that almost never from insulin treatment to oral sulfonylureas [5,6]. Inheritance: Permanent neonatal diabetes: KCNJ116/11 Clinical Features: Permanent neonatal diabetes: Neonatal diabetes is hyperglycemia

Ober, Carole

338

Clinical Features: Permanent neonatal diabetes: Neonatal diabetes is hyperglycemia that presents at 0-6 months of age  

E-print Network

and require insulin treatment throughout life. PNDM does not include autoimmune diabetes that almost never from insulin treatment to oral sulfonylureas [5,6]. Inheritance: Permanent neonatal diabetes: KCNJ111/13 Clinical Features: Permanent neonatal diabetes: Neonatal diabetes is hyperglycemia

Ober, Carole

339

Clinical Features: Permanent neonatal diabetes: Neonatal diabetes is hyperglycemia that presents at 0-6 months of age  

E-print Network

and require insulin treatment throughout life. PNDM does not include autoimmune diabetes that almost never from insulin treatment to oral sulfonylureas [5,6]. Inheritance: · Permanent neonatal diabetes: KCNJ111/08 Clinical Features: · Permanent neonatal diabetes: Neonatal diabetes is hyperglycemia

Gilad, Yoav

340

Clinical Features: Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum (HMSN/ACC) [OMIM #218000  

E-print Network

1/13 Clinical Features: Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus sensorimotor neuropathy resulting in hypotonia, areflexia and amyotrophy, variable degrees of dysgenesis Neuropathy with Agenesis of the Corpus Callosum #12;1/13 Prenatal testing for a known mutation Sample

Ober, Carole

341

Hemorrhagic Pure Sensory Strokes in the Thalamus and Striatocapsular Area: Causes, Clinical Features and Long-Term Outcome  

Microsoft Academic Search

Background: Although there have been sporadic reports of patients with hemorrhagic pure sensory strokes (HPSS) in the thalamus and striatocapsular areas, the causes, clinical featuring and long-term outcome have not been adequately investigated. Methods: We recruited 7 consecutive patients without hemiparetic stroke who had HPSS in the thalamic and striatocapsular areas. A CT scan was performed to verify brain imaging

Dao-Ming Tong; Ye-Ting Zhou; Guang-Sheng Wang; Xiao-Dong Chen; Tong-Hui Yang; Chun-Hong Chang; Yuan-Wei Wang

2010-01-01

342

Clinical Features: X-linked Female-limited Epilepsy with Mental retardation (EFMR, OMIM#300088) is characterized by seizure  

E-print Network

4/11 Clinical Features: X-linked Female-limited Epilepsy with Mental retardation (EFMR, OMIM#300088 resembling Dravet syndrome or focal epilepsy with or without mental retardation. [1] Molecular Genetics EFMR in 13 (11%) of 117 female patients with febrile seizures and a wide spectrum of epilepsy phenotypes [2

Gilad, Yoav

343

Merkel cell carcinoma: Analysis of clinical, histologic, and immunohistologic features of 132 cases with relation to survival  

Microsoft Academic Search

Background: Merkel cell carcinoma (MCC) is an uncommon malignancy of the skin and has a high rate of recurrence and metastasis. There have been few large studies of the biologic behavior of MCC. Objective: Our purpose was to determine whether there were clinical or histologic features of MCC that predict its biologic behavior. Methods: We reviewed 132 cases of MCC.

Henry G. Skelton; Kathleen J. Smith; Charles L. Hitchcock; William F. McCarthy; George P. Lupton; James H. Graham

1997-01-01

344

Clinical Features: Charcot Marie Tooth Disease is a group of inherited neuropathies characterized by chronic motor and sensory  

E-print Network

1/13 Clinical Features: Charcot Marie Tooth Disease is a group of inherited neuropathies-499-9264 Email: info@charcot-marie-tooth.org http://www.charcot-marie-tooth.org/ The Muscular Dystrophy Association 3300 E. Sunrise Drive Tucson, AZ 85718 800-572-1717 http://www.mda.org/ European Charcot-Marie-Tooth

Ober, Carole

345

Clinical Features: Charcot Marie Tooth Disease is a group of inherited neuropathies characterized by chronic motor and sensory  

E-print Network

10/08 Clinical Features: Charcot Marie Tooth Disease is a group of inherited neuropathies-499-9264 Email: info@charcot-marie-tooth.org http://www.charcot-marie-tooth.org/ The Muscular Dystrophy Association 3300 E. Sunrise Drive Tucson, AZ 85718 800-572-1717 http://www.mda.org/ European Charcot-Marie-Tooth

Gilad, Yoav

346

Clinical Features: Charcot Marie Tooth Disease is a group of inherited neuropathies characterized by chronic motor and sensory  

E-print Network

6/11 Clinical Features: Charcot Marie Tooth Disease is a group of inherited neuropathies-499-9264 Email: info@charcot-marie-tooth.org http://www.charcot-marie-tooth.org/ The Muscular Dystrophy Association 3300 E. Sunrise Drive Tucson, AZ 85718 800-572-1717 http://www.mda.org/ European Charcot-Marie-Tooth

Ober, Carole

347

Main clinical features in patients at their first psychiatric admission to Italian acute hospital psychiatric wards. The PERSEO study  

Microsoft Academic Search

BACKGROUND: Few data are available on subjects presenting to acute wards for the first time with psychotic symptoms. The aims of this paper are (i) to describe the epidemiological and clinical characteristics of patients at their first psychiatric admission (FPA), including socio-demographic features, risk factors, life habits, modalities of onset, psychiatric diagnoses and treatments before admission; (ii) to assess the

Andrea Ballerini; Roberto M Boccalon; Giancarlo Boncompagni; Massimo Casacchia; Francesco Margari; Lina Minervini; Roberto Righi; Federico Russo; Andrea Salteri; Sonia Frediani; Andrea Rossi; Marco Scatigna

2007-01-01

348

Clinical Classification of Borderline Cases in the Family Study of Essential Tremor: An Analysis of Phenotypic Features  

PubMed Central

Background In genetic research on essential tremor (ET), certain individuals may be particularly challenging to categorize diagnostically. Methods In the Family Study of Essential Tremor (>200 enrollees), 28 participants with borderline clinical findings who did not meet strict criteria for ET were assigned final diagnoses of ET. We scrutinized the clinical features of these cases and the sensitivity/specificity of certain features that best separated them from 19 unaffected individuals. Results Borderline ET cases differed from unaffected individuals in eight features: total tremor score, at least one kinetic tremor rating ?1.5, at least one kinetic tremor rating ?1.5 in the dominant arm, tremor rating during spiral drawing ?1.5, higher spiral axis score, head tremor, complaint of tremor, and comment on tremor by others. The combination of at least one kinetic tremor rating ?1.5 in the dominant arm and the presence of at least three of the remaining seven features predicted the clinician-assigned diagnosis in 88.6% of borderline ET vs. unaffected individuals (sensitivity 84.6%, specificity 94.4%). Discussion In a family study, a small number of clinical features characterized borderline ET, and a particular combination of these separated the majority of these borderline cases from normals. These analyses may help researchers minimize diagnostic misclassification. PMID:24596662

Louis, Elan D.; Ottman, Ruth; Clark, Lorraine N.

2014-01-01

349

Experimentally induced orchitis associated with Arcanobacterium pyogenes: clinical, ultrasonographic, seminological and pathological features.  

PubMed

The objectives of this study were to describe the features of experimentally induced orchitis associated with Arcanobacterium pyogenes and confirm the pathogenicity of the organism for the ovine testicle. One testicle of each of nine rams was inoculated with 1.3 +/- 10(4) colony-forming-units of an A. pyogenes isolate and regular clinical, ultrasonographic, bacteriological and seminological examinations were carried out up to 204 days after challenge. The rams were sequentially euthanatized 3, 6, 9, 18, 30, 50, 71, 113 and 204 days after challenge and a gross- and histopathological examination of their testicles was performed. All rams developed clinical orchitis and general signs. The initial ultrasonographic findings were changes of size and echogenicity of the genitalia, whilst in the long-standing phase they were wider appearance of the mediastinum testis, presence of hyperechogenic foci, changes of echogenicity of the genitalia and increased echogenicity of the scrotum and tunics. The following changes in semen evaluation parametres were recorded: the pH, the percentage of dead sperms, the percentage of abnormal sperms and the number of nonsperm round cells increased, whilst the mass motility, the individual motility and the sperm concentration decreased; the following sperm defects were observed: misshapen or piriform heads, sperms with coiled tails, sperms without tail and sperms with proximal cytoplasmic droplet; at the early stages neutrophils were the prevailing nonsperm round cell type, later the proportion of immature germ cells increased and in the long-standing phase there were enlogated spermatids and leucocytes; it is noteworthy that semen evaluation parametres were restored to normal at the late stages of the disease. A. pyogenes was consistently isolated from the semen samples after challenge, as well as from the dissected genitalia. The salient post-mortem findings were: initially, subcutaneous oedema, fluid into the vaginal cavity, congested and distended vessels, increased size of the genitalia and a hard dark area inside the testicles; subsequently, there were changes of size of the genitalia, thickening of scrotum and tunics and presence of fibrin on the testicular surface; in the long-standing phase of the disorder, there were induration of scrotum and tunics with adhesion between the tunics and discolouration of the surface of the genitalia. The prominent histopathological changes were observed in the inoculated testicles; milder changes were seen in the respective epididymides; interstitial oedema, diffuse neutrophilic infiltration and extravasation were observed in the early stages after challenge; lymphocytic infiltration with concurrent fibrosis, mineralization and inspissation of the tubular elements of the seminiferous tubules and presence of vacuolated Sertoli cells were seen later; finally, regeneration of the epithelium and presence of Sertoli cells and spermatogonia with various degrees of spermatogenic activity were evident. These findings, allied to the isolation of A. pyogenes from field cases of ovine orchitis, provide clear evidence that A. pyogenes is pathogenic for the ovine genitalia; however, the mechanisms of transition of the organism from commensal to pathogenic state are not clear. It is also noteworthy that some degree of fertility was restored in the late stages of the disorder. Ultrasonography appeared to be useful for the diagnosis of intra-scrotal abnormalities, especially during investigation of the long-standing stage of the disease, after clinical findings have subsided. PMID:15325557

Gouletsou, P G; Fthenakis, G C; Cripps, P J; Papaioannou, N; Lainas, T; Psalla, D; Amiridis, G S

2004-10-01

350

Network Analysis of Associations between Serum Interferon Alpha Activity, Autoantibodies, and Clinical Features in Systemic Lupus Erythematosus  

PubMed Central

Background Interferon-alpha (IFN-?) is a primary pathogenic factor in systemic lupus erythematosus (SLE), and high IFN-? levels may be associated with particular clinical manifestations. The prevalence of individual clinical and serologic features differs significantly by ancestry. We used multivariate and network analyses to detect associations between clinical and serologic disease manifestations and serum IFN-? activity in a large diverse SLE cohort. Methods 1089 SLE patients were studied (387 African-American, 186 Hispanic-American, and 516 European-American). Presence or absence of ACR clinical criteria for SLE, autoantibodies, and serum IFN-? activity data were analyzed in univariate and multivariate models. Iterative multivariate logistic regression was performed in each background separately to establish the network of associations between variables that were independently significant following Bonferroni correction. Results In all ancestral backgrounds, high IFN-? activity was associated with anti-Ro and anti-dsDNA antibodies (p-values 4.6×10?18 and 2.9 × 10?16 respectively). Younger age, non-European ancestry, and anti-RNP were also independently associated with increased serum IFN-? activity (p?6.7×10?4). We found 14 unique associations between variables in network analysis, and only 7 of these associations were shared by more than one ancestral background. Associations between clinical criteria were different in different ancestral backgrounds, while autoantibody-IFN-? relationships were similar across backgrounds. IFN-? activity and autoantibodies were not associated with ACR clinical features in multivariate models. Conclusions Serum IFN-? activity was strongly and consistently associated with autoantibodies, and not independently associated with clinical features in SLE. IFN-? may be more relevant to humoral tolerance and initial pathogenesis than later clinical disease manifestations. PMID:21162028

Weckerle, Corinna E.; Franek, Beverly S.; Kelly, Jennifer A.; Kumabe, Marissa; Mikolaitis, Rachel A.; Green, Stephanie L.; Utset, Tammy O.; Jolly, Meenakshi; James, Judith A.; Harley, John B.; Niewold, Timothy B.

2010-01-01

351

MR of CNS Sarcoidosis: Correlation of Imaging Features to Clinical Symptoms and Response to Treatment  

Microsoft Academic Search

BACKGROUND AND PURPOSE: Sarcoidosis is an idiopathic systemic granulomatous dis- ease, recognized in a patient when clinical and radiologic findings are confirmed by histopath- ologic analysis. The objective was to identify a relationship between MR imaging and clinical findings in CNS sarcoidosis. METHODS: The clinical charts of 461 patients with biopsy-proved sarcoidosis were reviewed retrospectively. Criteria for including patients in

Greg A. Christoforidis; Eric M. Spickler; Maria V. Recio; Bharat M. Mehta

352

A RETROSPECTIVE STUDY OF SOME CLINICAL AND EPIDEMIOLOGICAL FEATURES OF IMPETIGO PATIENTS SEEN IN DERMATOLOGY CLINIC IN THE EASTERN PROVINCE OF SAUDI ARABIA  

PubMed Central

Background: Impetigo is a common contagious superficial skin infection, most frequently seen in children. Objectives: To determine the clinical and epidemiological features of impetigo patients seen in the dermatology clinic of King Fahd Hospital of the University (KFHU). Methods: This is a retrospective study of impetigo patients seen in the dermatology clinic at KFHU, Al-Khobar, Saudi Arabia, during the period January 1990 to December 2001. Data collected from patients’ records included demographic features, clinical features, investigations and treatment. Only patients with positive skin culture were included in the study. Results: The total number of patients included in this study was 65 and constituted 0.08% of all the cases presenting with dermatology problems in that period. Males were affected by impetigo more than the females, giving a ratio of 1.7:1. The majority of the cases occurred in children less than 10 years of age, and the bullous form of impetigo was the predominant type. The sites affected by impetigo were mainly the extremities and the face. The highest number of patients was seen during summer and Staphylococcus was the most common causative agent. Conclusion: The incidence and prevalence of impetigo in Saudi Arabia is unknown and can be best defined by prospective community-based study. The diagnosis and management of impetigo is best achieved by microbiological cultures and sensitivities laboratory investigations. PMID:23012100

Al-Ghamdi, Khalid M.

2006-01-01

353

A Critical Assessment of Feature Selection Methods for Biomarker Discovery in Clinical Proteomics*  

PubMed Central

In this paper, we compare the performance of six different feature selection methods for LC-MS-based proteomics and metabolomics biomarker discovery—t test, the Mann–Whitney–Wilcoxon test (mww test), nearest shrunken centroid (NSC), linear support vector machine–recursive features elimination (SVM-RFE), principal component discriminant analysis (PCDA), and partial least squares discriminant analysis (PLSDA)—using human urine and porcine cerebrospinal fluid samples that were spiked with a range of peptides at different concentration levels. The ideal feature selection method should select the complete list of discriminating features that are related to the spiked peptides without selecting unrelated features. Whereas many studies have to rely on classification error to judge the reliability of the selected biomarker candidates, we assessed the accuracy of selection directly from the list of spiked peptides. The feature selection methods were applied to data sets with different sample sizes and extents of sample class separation determined by the concentration level of spiked compounds. For each feature selection method and data set, the performance for selecting a set of features related to spiked compounds was assessed using the harmonic mean of the recall and the precision (f-score) and the geometric mean of the recall and the true negative rate (g-score). We conclude that the univariate t test and the mww test with multiple testing corrections are not applicable to data sets with small sample sizes (n = 6), but their performance improves markedly with increasing sample size up to a point (n > 12) at which they outperform the other methods. PCDA and PLSDA select small feature sets with high precision but miss many true positive features related to the spiked peptides. NSC strikes a reasonable compromise between recall and precision for all data sets independent of spiking level and number of samples. Linear SVM-RFE performs poorly for selecting features related to the spiked compounds, even though the classification error is relatively low. PMID:23115301

Christin, Christin; Hoefsloot, Huub C. J.; Smilde, Age K.; Hoekman, B.; Suits, Frank; Bischoff, Rainer; Horvatovich, Peter

2013-01-01

354

Spectral variability in the layered terrain of Melas Chasma: Possible evidence for hydroxides using MGS/TES  

NASA Astrophysics Data System (ADS)

In an attempt to constrain the mineralogy of both "anomalous soils" (identified as having a stronger 3-? m absorption than "normal" soils of comparable reflectance) as well as the putative hydrogen-bearing mineral phase seen at equatorial latitudes in both ground-based near-IR spectra and Mars Odyssey GRS/NS measurements, we have performed band-depth analyses of Mars Global Surveyor Thermal Emission Spectrometer (MGS/TES) data in spectral regions where absorptions caused by metal hydroxides and oxyhydroxides could exist. We searched mid-infrared spectral databases to identify the most potentially diagnostic spectral regions to examine. Possible diagnostic spectral features outside the 500-800 cm-1 saturated CO2 absorption include an 1100 cm-1 absorption found in hydroxylated aluminosilicates such as boehmite, and an 890 cm-1 absorption found in ferrous oxyhydroxides (e.g., goethite) and aluminum hydroxides (e.g., gibbsite and diaspore), but absent in other hydroxides (e.g., magnesium hydroxides). Accurate atmospheric modeling is required because the 1100 cm-1 region includes some CO2 and dust absorption, and the 890 cm-1 region includes minor H2O absorption. In our preliminary results, which concentrate on the Melas Chasma region of Valles Marineris, we find band-depths of up to 0.6% (4? above the noise level). These are about 3 times greater in the interior deposits than in the surrounding plains (as would be expected from atmospheric absorption), but are coherently variable within the deposits, precluding a solely atmospheric cause. The variability in the interior of the Chasma tends to be associated with 1) geologic features (such as the interior layered deposits), where band-depths may vary by a factor of 2 on the scale of tens of kilometers); and 2) surface temperature variations (on a scale of tens to one hundred kilometers). Despite the latter association, there does not seem to be a larger-scale correlation between band-depth and temperature: the difference between the floor of the Chasma and the surrounding plains is evident in the band-depth map but not in the temperature map, whereas the band-depth map does not show the strong variability between the floor and the walls leading to the plains that is readily apparent in the temperature map. We present new work involving a full radiative atmospheric correction and spectral deconvolution of the regions of interest in order to futher constrain the surface mineralogy.

Noe Dobrea, E. Z.; Bell, J. F., III; Wolff, M. J.; Smith, M. D.

2002-09-01

355

Clinical features and hospital management of bites by the white-lipped green pit viper (Trimeresurus albolabris).  

PubMed

The clinical features and hospital management of 31 patients who were bitten by the white-lipped green pit viper (Trimeresurus albolabris) in Hong Kong are reviewed. The cardinal features in these patients were local pain and swelling and mild coagulation abnormalities. Hospital management should include prophylaxis against tetanus, analgesics and measures to reduce local effects such as elevation of the limb. The benefits of the use of prophylactic antibiotics remain to be established. Severe coagulation disturbances were uncommon and responded to fresh frozen plasma and platelet transfusion. PMID:7939957

Chan, T Y; Chan, J C; Tomlinson, B; Critchley, J A

1993-12-01

356

CLINICAL, EPIDEMIOLOGIC, AND VIROLOGIC FEATURES OF DENGUE IN THE 1998 EPIDEMIC IN NICARAGUA  

Microsoft Academic Search

From July to December 1998, a hospital- and health center-based surveillance system for dengue was established at selected sites in Nicaragua to better define the epidemiology of this disease. Demographic and clinical information as well as clinical laboratory results were obtained, and virus isolation, reverse transcriptase-polymerase chain reaction, and serologic assays were performed. World Health Organization criteria were used to

EVA HARRIS; ELSA VIDEA; LEONEL PEREZ; ERICK SANDOVAL; YOLANDA TELLEZ; RICARDO CUADRA; JULIO ROCHA; WENDY IDIAQUEZ; ROSA EMELINA ALONSO; MARIA A. DELGADO; LUISA AMANDA CAMPO; FRANCISCO ACEVEDO; ALCIDES GONZALEZ; JUAN JOSE AMADOR; ANGEL BALMASEDA

357

Clinical features of hepatocellular carcinoma in the elderly: a study of 91 patients older than 70 years.  

PubMed Central

In order to determine the clinical features of hepatocellular carcinoma in the elderly, a total of 622 patients with hepatocellular carcinoma, including 91 patients 70 years or older, were retrospectively analysed with reference to their ages at the time of diagnosis. The proportion of females increased and that of hepatitis B surface antigen-positive cases decreased as age increased. Tumour sizes at the time of diagnosis were somewhat smaller in the elderly than in younger patients, whereas clinical stage taking liver function into consideration was similar in the two age groups. The prognosis in the elderly patients was similar to that in the younger ones in a clinical stage-matched comparison. Furthermore, by a multivariate analysis using the Cox proportional hazards model with inclusion of age and other clinical parameters, age was not selected in the final model as an independent predictor for survival. These results indicate that elderly patients with hepatocellular carcinoma have certain clinical features different from those in younger patients and that their prognosis is not necessarily poorer than in the latter. PMID:7917919

Nomura, F.; Ohnishi, K.; Honda, M.; Satomura, Y.; Nakai, T.; Okuda, K.

1994-01-01

358

Dropped head syndrome as prominent clinical feature in MuSK-positive Myasthenia Gravis with thymus hyperplasia.  

PubMed

MuSK-positive Myasthenia Gravis is in most cases clinically characterized by a progressive course with severe oculobulbar involvement or prominent neck, shoulder and respiratory muscle weakness. It is also distinguished from other forms of myastehnia through its lack of germinal centers or lymphocytic infiltrates in the thymic tissue. We present the case of a MuSK-positive female myasthenic patient with over four years slowly progressive weakness of the neck extensor muscles in the presence of thymus hyperplasia and discuss its uncommon and markedly focal clinical and electrophysiological features, as well as the excellent course under medication with pyridostigmine and prednisone, especially after thymectomy. PMID:18053719

Spengos, Konstantinos; Vassilopoulou, Sofia; Papadimas, Georgios; Tsivgoulis, Georgios; Karandreas, Nikos; Zambelis, Thomas; Manta, Panagiota

2008-02-01

359

Osteoclastic and pleomorphic giant cell tumors of the pancreas: A review of clinical, endoscopic, and pathologic features  

PubMed Central

Giant cell tumors of the pancreas come in three varieties-osteoclastic, pleomorphic, and mixed histology. These tumors have distinctive endoscopic, clinical, and cytological features. Giant cell tumors have a controversial histogenesis, with some authors favoring an epithelial origin and others favoring a mesenchymal origin. The true origin of these lesions remains unclear at this time. These are also very rare tumors but proper identification and differentiation from more common pancreatic adenocarcinoma is important. The risk factors of these tumors and the prognosis may be different from those associated with standard pancreatic adenocarcinoma. Recognition of these differences can significantly affect patient care. These lesions have a unique appearance when imaged with endoscopic ultrasound (EUS), and these lesions can be diagnosed via EUS guided Fine Needle Aspiration (FNA). This manuscript will review the endoscopic, clinical, and pathologic features of these tumors. PMID:21160673

Moore, Jill C; Bentz, Joel S; Hilden, Kristen; Adler, Douglas G

2010-01-01

360

Limited usefulness of histopathological features in identification of a clinically aggressive solid-pseudopapillary neoplasm of the pancreas.  

PubMed

Solid-pseudopapillary neoplasms (SPN) are rare tumours of the pancreas. Distant metastases and/or local recurrence following surgical resection occur in 10% to 15% of patients with SPN. In the present study, we aimed to systematically examine the usefulness of virtually all histopathological features of SPN which were previously considered potential risk factors of clinically aggressive behaviour of SPN following surgical resection. Seventeen SPN were included. None of the cases had an undifferentiated component. Follow-up data were available for 14 patients (median 52 months). One patient developed liver metastasis 17 months after resection of the primary tumour and fulfilled the criteria of a clinically aggressive disease. None of the histopathological features allowed identification of that case with an adequate diagnostic yield. At present, histopathological examination cannot identify patients who may develop tumour recurrence following resection of the primary lesion. A close follow-up should be offered to all patients treated for SPN. PMID:25372415

Liszka, L; Mrowiec, S; Paj?k, J; Kostrz?b-Zdebel, A; Lampe, P; Kajor, M

2014-11-01

361

Clear cell acanthoma of the areola and nipple: clinical, histopathological, and immunohistochemical features of two Brazilian cases*  

PubMed Central

Clear cell acanthoma or Degos' acanthoma is a distinct disease concerning its clinical, histopathological, and immunohistochemical features. Its pathologic nature - whether neoplastic or reactive - is still under dispute among researchers. The disease shows a chronic course and often presents with a single papulonodular lesion on the lower limbs of adults. However, cases with multiple lesions, sometimes occurring in an eruptive fashion, and with clear variation in the size and shape of the cutaneous lesions have been reported. So far, five cases in which the lesions were exclusively located in the nipple area have been reported, all in Korean women. Four of these cases mimicked eczema and one, a polypoid nodule. The aim of this article is to present clinical, histopathological, and immunohistochemical features of two additional cases in Brazilian women with similar nipple topography. PMID:23539008

da Veiga, Rossana Ruth Garcia; Barros, Renata Silva; dos Santos, Josie Eiras Bisi; Abreu Junior, Jose Maria de Castro; Bittencourt, Maraya de Jesus Semblano; de Miranda, Mario Fernando Ribeiro

2013-01-01

362

Familial adult-onset Pompe disease associated with unusual clinical and histological features.  

PubMed

The adult-onset form of Pompe disease had a wide clinical spectrum, ranging from asymptomatic patients with increased CK to muscle cramps and pain syndrome or rigid-spine syndrome. In addition clinical severity and disease progression are greatly variable. We report on a family with 3 siblings characterized by an unusual adult-onset Pompe disease including dysphagia and weakness of tongue, axial and limb-girdle muscles, in association with atypical globular inclusions in muscle fibres. Our study confirms the great clinical and histological variability of adult-onset Pompe disease and further supports the need of careful evaluation of bulbar function in patients affected by this pathology. PMID:24399864

Maggi, Lorenzo; Salerno, Franco; Bragato, Cinzia; Saredi, Simona; Blasevich, Flavia; Maccagnano, Elio; Pasanisi, Barbara; Danesino, Cesare; Mora, Marina; Morandi, Lucia

2013-10-01

363

Anesthetic management of a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) during laparotomy  

Microsoft Academic Search

A 53-year-old man with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) underwent\\u000a a gastrectomy. We administered bicarbonated Ringer's solution, which has a physiological concentration of bicarbonate. The\\u000a level of serum lactate did not increase significantly, and metabolic acidosis did not occur throughout surgery or for 3?h\\u000a after surgery. Aggressive warming was needed to maintain normothermia, presumably because the

Nobuko Sasano; Yoshihito Fujita; MinHye So; Kazuya Sobue; Hiroshi Sasano; Hirotada Katsuya

2007-01-01

364

Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney neoplasia: on the spectrum of kidney involvement in MELAS syndrome  

PubMed Central

Background MELAS syndrome (MIM ID#540000), an acronym for Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes, is a genetically heterogeneous mitochondrial disorder with protean manifestations and occasional kidney involvement. Interest in the latter is rising due to the identification of cases with predominant kidney involvement and to the hypothesis of a link between mitochondrial DNA and kidney neoplasia. Case presentation We report the case of a 41-year-old male with full blown MELAS syndrome, with lactic acidosis and neurological impairment, affected by the "classic" 3243A > G mutation of mitochondrial DNA, with kidney cancer. After unilateral nephrectomy, he rapidly developed severe kidney functional impairment, with nephrotic proteinuria. Analysis of the kidney tissue at a distance from the two tumor lesions, sampled at the time of nephrectomy was performed in the context of normal blood pressure, recent onset of diabetes and before the appearance of proteinuria. The morphological examination revealed a widespread interstitial fibrosis with dense inflammatory infiltrate and tubular atrophy, mostly with thyroidization pattern. Vascular lesions were prominent: large vessels displayed marked intimal fibrosis and arterioles had hyaline deposits typical of hyaline arteriolosclerosis. These severe vascular lesions explained the different glomerular alterations including ischemic and obsolescent glomeruli, as is commonly observed in the so-called "benign" arteriolonephrosclerosis. Some rare glomeruli showed focal segmental glomerulosclerosis; as the patient subsequently developed nephrotic syndrome, these lesions suggest that silent ischemic changes may result in the development of focal segmental glomerulosclerosis secondary to nephron loss. Conclusions Nephron loss may trigger glomerular sclerosis, at least in some cases of MELAS-related nephropathy. Thus the incidence of kidney disease in the "survivors" of MELAS syndrome may increase as the support therapy of these patients improves. PMID:22353239

2012-01-01

365

Clinical features of headache associated with mobile phone use: a cross-sectional study in university students  

PubMed Central

Background Headache has been reported to be associated with mobile phone (MP) use in some individuals. The causal relationship between headache associated with MP use (HAMP) and MP use is currently undetermined. Identifying the clinical features of HAMP may help in clarifying the pathophysiology of HAMP and in managing symptoms of individuals with HAMP. The aim of the present study is to describe the clinical features of HAMP. Methods A 14-item questionnaire investigating MP use and headache was administered to 247 medical students at Hallym University, Korea. Individual telephone interviews were subsequently conducted with those participants who reported HAMP more than 10 times during the last 1 year on the clinical features of HAMP. We defined HAMP as a headache attack during MP use or within 1 hour after MP use. Results In total, 214 (86.6%) students completed and returned the questionnaire. Forty (18.9%) students experienced HAMP more than 10 times during the last 1 year in the questionnaire survey. In subsequent telephone interviews, 37 (97.4%) interviewed participants reported that HAMP was triggered by prolonged MP use. HAMP was usually dull or pressing in quality (30 of 38, 79.0%), localised ipsilateral to the side of MP use (32 of 38, 84.2%), and associated with a burning sensation (24 of 38, 63.2%). Conclusion We found that HAMP usually showed stereotyped clinical features including mild intensity, a dull or pressing quality, localisation ipsilateral to the side of MP use, provocation by prolonged MP use and often accompanied by a burning sensation. PMID:21943309

2011-01-01

366

Clinical and laboratory features that discriminate dengue from other febrile illnesses: a diagnostic accuracy study in Rio de Janeiro, Brazil  

PubMed Central

Background Dengue is an acute febrile illness caused by an arbovirus that is endemic in more than 100 countries. Early diagnosis and adequate management are critical to reduce mortality. This study aims to identify clinical and hematological features that could be useful to discriminate dengue from other febrile illnesses (OFI) up to the third day of disease. Methods We conducted a sectional diagnostic study with patients aged 12 years or older who reported fever lasting up to three days, without any evident focus of infection, attending an outpatient clinic in the city of Rio de Janeiro, Brazil, between the years 2005 and 2008. Logistic regression analysis was used to identify symptoms, physical signs, and hematological features valid for dengue diagnosis. Receiver-operating characteristic (ROC) curve analyses were used to define the best cut-off and to compare the accuracy of generated models with the World Health Organization (WHO) criteria for probable dengue. Results Based on serological tests and virus genome detection by polymerase chain reaction (PCR), 69 patients were classified as dengue and 73 as non-dengue. Among clinical features, conjunctival redness and history of rash were independent predictors of dengue infection. A model including clinical and laboratory features (conjunctival redness and leukocyte counts) achieved a sensitivity of 81% and specificity of 71% and showed greater accuracy than the WHO criteria for probable dengue. Conclusions We constructed a predictive model for early dengue diagnosis that was moderately accurate and performed better than the current WHO criteria for suspected dengue. Validation of this model in larger samples and in other sites should be attempted before it can be applied in endemic areas. PMID:23394216

2013-01-01

367

A Comparison of the Clinical Features of ANCA-Positive and ANCA-Negative Idiopathic Pulmonary Fibrosis Patients  

Microsoft Academic Search

Background: The existence of antineutrophil cytoplasmic antibody (ANCA)-positive pulmonary fibrosis (PF) has recently been recognized. Objectives: The aim of this study was to clarify whether there is any difference in the clinical features between ANCA-positive PF and ANCA-negative PF. Methods: A retrospective study was carried out on 53 patients with idiopathic PF whose myeloperoxidase (MPO)- and proteinase 3 (PR3)-ANCA levels

Tomoko Nozu; Mitsuko Kondo; Kazuo Suzuki; Jun Tamaoki; Atsushi Nagai

2009-01-01

368

Clinical application of removable partial dentures using thermoplastic resin. Part II: Material properties and clinical features of non-metal clasp dentures.  

PubMed

This position paper reviews physical and mechanical properties of thermoplastic resin used for non-metal clasp dentures, and describes feature of each thermoplastic resin in clinical application of non-metal clasp dentures and complications based on clinical experience of expert panels. Since products of thermoplastic resin have great variability in physical and mechanical properties, clinicians should utilize them with careful consideration of the specific properties of each product. In general, thermoplastic resin has lower color-stability and higher risk for fracture than polymethyl methacrylate. Additionally, the surface of thermoplastic resin becomes roughened more easily than polymethyl methacrylate. Studies related to material properties of thermoplastic resin, treatment efficacy and follow-up are insufficient to provide definitive conclusions at this time. Therefore, this position paper should be revised based on future studies and a clinical guideline should be provided. PMID:24746524

Fueki, Kenji; Ohkubo, Chikahiro; Yatabe, Masaru; Arakawa, Ichiro; Arita, Masahiro; Ino, Satoshi; Kanamori, Toshikazu; Kawai, Yasuhiko; Kawara, Misao; Komiyama, Osamu; Suzuki, Tetsuya; Nagata, Kazuhiro; Hosoki, Maki; Masumi, Shin-ichi; Yamauchi, Mutsuo; Aita, Hideki; Ono, Takahiro; Kondo, Hisatomo; Tamaki, Katsushi; Matsuka, Yoshizo; Tsukasaki, Hiroaki; Fujisawa, Masanori; Baba, Kazuyoshi; Koyano, Kiyoshi; Yatani, Hirofumi

2014-04-01

369

Heterogeneity of autoantibodies in 100 patients with autoimmune myositis: insights into clinical features and outcomes  

Microsoft Academic Search

The objective of this study was to determine the prevalence, mutual associations, clinical manifestations, and diagnoses associated\\u000a with serum autoantibodies, as detected using recently available immunoassays, in patients with autoimmune myositis (AIM).\\u000a Sera and clinical data were collected from 100 patients with AIM followed longitudinally. Sera were screened cross-sectionally\\u000a for 21 autoantibodies by multiplex addressable laser bead immunoassay, line blot

Martial Koenig; Marvin J Fritzler; Ira N Targoff; Yves Troyanov; Jean-Luc Senécal

2007-01-01

370

Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis  

PubMed Central

Background Array comparative genomic hybridization (a-CGH) has become the first-tier investigation in patients with unexplained developmental delay/intellectual disability (DD/ID). Although the costs are progressively decreasing, a-CGH is still an expensive and labour-intensive technique: for this reason a definition of the categories of patients that can benefit the most of the analysis is needed. Aim of the study was to retrospectively analyze the clinical features of children with DD/ID attending the outpatient clinic of the Mother & Child Department of the University Hospital of Modena subjected to a-CGH, to verify by uni- and multivariate analysis the independent predictors of pathogenic CNVs. Methods 116 patients were included in the study. Data relative to the CNVs and to the patients’ clinical features were analyzed for genotype/phenotype correlations. Results and conclusions 27 patients (23.3%) presented pathogenic CNVs (21 deletions, 3 duplications and 3 cases with both duplications and deletions). Univariate analysis showed a significant association of the pathogenic CNVs with the early onset of symptoms (before 1 yr of age) and the presence of malformations and dysmorphisms. Logistic regression analysis showed a significant independent predictive value for diagnosing a pathogenic CNV for malformations (P?=?0.002) and dysmorphisms (P?=?0.023), suggesting that those features should address a-CGH analysis as a high-priority test for diagnosis. PMID:24775911

2014-01-01

371

Esophageal granular cell tumor: Clinical, endoscopic and histological features of 19 cases  

PubMed Central

Esophageal granular cell tumors (GCTs) are rare and often misdiagnosed. To demonstrate their clinicopathological features, the present study reports 19 cases and reviews the literature. There were 11 female and eight male esophageal GCT patients with a median age of 42.0 years. All the tumors were solitary. The majority of patient indications for endoscopy (89.5%) were non-specific and endoscopic therapy was performed in 17 cases with a relapse in one case after a 12-month follow-up. The endoscopic appearance of esophageal GCT was variable and the majority of tumors (80.0%) were located in the middle and lower esophageal segments. The size of the tumors ranged from 0.4 to 2 cm in diameter and the surface was white-gray, pink or yellow. Nine patients underwent an endoscopic ultrasound exam, eight of which demonstrated hypoechoic echostructures with a smooth margin and intracavity growth features. One case was derived from the muscularis propria layer with an irregular margin and intra- and extra-cavity growth features. The histological features could mimic other tumors and immunohistochemical stains are usually positive for S-100, periodic acid-Schiff, neuron-specific enolase and nestin. Three cases indicated pleomorphism and Ki-67 was locally positive. Esophageal GCTs are rare and endoscopic ultrasound features are variable. Immunohistochemical staining may aid in the diagnosis. PMID:25013469

ZHANG, MING; SUN, ZE-QUN; ZOU, XIAO-PING

2014-01-01

372

Clinical features and outcome of patients with amatoxin-containing mushroom poisoning.  

PubMed

OBJECTIVE.?We aimed to determine clinical and laboratory findings that were different between those patients who died and those who survived and to look for factors associated with the mortality in amatoxin-containing mushroom poisoning. METHODS.?The mushroom poisoning patients who were admitted to our clinic between 1996 and 2009 were retrospectively evaluated. The diagnosis was based on a history of mushroom ingestion, clinical picture and the presence of serum alpha-amanitin. Patients were divided into two groups as the survival group and the fatality group. Clinical and laboratory findings were compared between the two groups. Relation between variables and clinical outcome was analyzed. RESULTS.?A total of 144 amatoxin poisoning patients were included in this study. Patients who died were more likely to have demonstrated low mean arterial pressure, encephalopathy, mucosal hemorrhage, oliguria-anuria, hypoglycemia, and thrombocytopenia during the hospitalization. Low sodium values and high urea, AST, ALT, total bilirubin, LDH, prothrombin time, international normalized ratio, and activated partial thromboplastin time values were associated with increased likelihood of mortality. Nineteen patients developed acute renal failure. Fourteen patients developed acute hepatic failure. All the 14 patients who died developed acute hepatic failure. The mortality rate was 9.7%. CONCLUSIONS.?The factors associated with mortality determined in this retrospective study may be helpful for clinical outcome assessment and monitoring of patients with amatoxin-containing mushroom poisoning. PMID:21563906

Trabulus, Sinan; Altiparmak, Mehmet R

2011-04-01

373

Levels of Heavy Metals in Adolescents Living in the Industrialised Area of Milazzo-Valle del Mela (Northern Sicily)  

PubMed Central

In the Milazzo-Valle del Mela area, the presence of industrial plants and the oil refinery make local residents concerned for their health. For this reason, we evaluated the levels of heavy metals in 226 children aged 12–14 years, living in the 7 municipalities of the area. A control age-matched population (n = 29) living 45?km far from the industrial site was also enrolled. Arsenic, cadmium, chromium, mercury, nickel, and vanadium were analysed in 24?h urine samples, while lead concentration was evaluated in blood samples. A questionnaire regarding life style and risk perception was also administered. Adolescents from Milazzo-Valle del Mela had cadmium levels significantly higher compared to either controls??(P < 0.0001) or the reference values of the European Germany Environmental Survey (GerES-IV) and the American National Health and Nutrition Examination Survey (NHANES). Furthermore, children had higher perception of living in a high-risk environment. The present data, for the first time, clearly indicate that adolescents living in Milazzo-Valle del Mela have increased body concentration of cadmium, which may be harmful to human health. These results deserve particular attention by the local and regional government to initiate prevention programmes in this susceptible population. PMID:25328531

Interdonato, Monica; Mecchio, Anna; Cuspilici, Antonino; Minutoli, Letteria; Squadrito, Francesco

2014-01-01

374

Clinical features and outcomes of aspiration pneumonia compared with non-aspiration pneumonia: a retrospective cohort study.  

PubMed

Pneumonia is a leading cause of death among elderly patients. Although aspiration pneumonia (AP) commonly occurs with aging, its clinical features and outcomes are still uncertain. The aims of this study were to describe the clinical features and outcomes of AP and to assess whether presence of AP affects clinical outcomes in patients with community-acquired pneumonia (CAP) and healthcare-associated pneumonia (HCAP). We retrospectively analyzed patients with CAP and HCAP hospitalized in our institution in Japan from October 2010 to March 2012. We compared clinical features and outcomes between AP and non-AP, and investigated risk factors for recurrence of pneumonia and death. Of 214 consecutive patients, 100 (46.7%) were diagnosed as having aspiration pneumonia. These patients were older and had lower body mass index, more comorbidities, and poorer Eastern Cooperative Oncology Group performance status (ECOG PS) than the patients with non-AP. Patients with AP had more severe disease, required longer hospital stays, and had a frequent recurrence rate of pneumonia and higher mortality. In multivariate analyses, AP, age, and ECOG PS were related to recurrence of pneumonia, and the prognostic factors were CURB-65 score and ECOG PS. AP was not a significant indicator for prognosis but was the strongest risk factor for recurrence of pneumonia. Clinical background and outcomes including recurrence and mortality of AP were obviously different from those of non-AP; therefore AP should be considered as a distinct subtype of pneumonia, and it is important to prevent the recurrence of pneumonia in the patients with AP. PMID:24834866

Hayashi, Makoto; Iwasaki, Takuya; Yamazaki, Yohei; Takayasu, Hiromi; Tateno, Hidetsugu; Tazawa, Sakiko; Kato, Eisuke; Wakabayashi, Aya; Yamaguchi, Fumihiro; Tsuchiya, Yutaka; Yamashita, Jun; Takeda, Norikazu; Matsukura, Satoshi; Kokubu, Fumio

2014-07-01

375

Subependymal giant cell astrocytoma with atypical clinical and pathological features: a diagnostic pitfall.  

PubMed

Subependymal giant cell astrocytoma (SEGA) is benign, slowly growing tumor linked to the tuberous sclerosis complex. It almost always occurs near the foramen of Monro. Parenchymal extension and worrisome histological features, such as necrosis, mitoses, microvascular proliferation and pleomorphism are unusual in these tumors, but can occur rarely. A case of SEGA is presented, in a patient with no signs of tuberous sclerosis so far, with atypical imaging findings and areas of necrosis found microscopically. These worrisome features initially led to the false diagnosis of glioblastoma. The differential diagnosis of SEGA is discussed. PMID:23641712

Svajdler, Marián; Deák, Ladislav; Rychlý, Boris; Talar?ík, Peter; Fröhlichová, Lucia

2013-04-01

376

The clinical features and their impact on the prosthodontic management in a case of Gardner's syndrome.  

PubMed

Gardner's syndrome is a variant of Familial Adenomatous Polyposis (FAP), a condition that manifests as hundreds of colorectal polyps likely to undergo malignant change by the fourth decade. Early diagnosis of this condition has the potential to be life saving for individuals and due to its inherited nature other family members can often also be affected. Additional features of Gardner's Syndrome include multiple jaw osteomas with missing teeth that can make prosthodontic treatment a challenge. This case report highlights the presenting features and the prosthodontic problems faced when treating a patient with Gardner's syndrome. PMID:24922993

Cunliffe, S; Milosevic, A

2014-03-01

377

An exploration of the communication patterns and language used between clinical geneticists and parents of children with dysmorphic features.  

PubMed

The present study aims to provide insight into the interactions between clinical geneticists and parents of children with dysmorphic features during syndrome assessment. Seven families attending a dysmorphology clinic for syndrome assessment consented to have their consultation recorded and transcribed verbatim. Content and discourse analyses were used to study the language and communication patterns of problematic and challenging sections of the consultations, primarily sections concerning the child's appearance and diagnosis which were marked by dysfluency and hesitation, indicators of problematic communication. Findings revealed that the clinical geneticists used a range of communicative strategies when discussing a child's appearance, such as comparing the child's features with those of parents or other individuals and minimizing differences. In doing so they displayed an orientation to the "face-threatening" nature of this communicative task. While geneticists discussed the child's appearance in an extremely sensitive manner, parents tended to describe their child's appearance using direct and objective language. These findings provide novel insight into the complexity of syndrome assessment consultations in a dysmorphology clinic. We suggest that parents may be seeking a more open discussion of their child's appearance, and clinician engagement with this may prove a more effective communication strategy than those currently employed, while remaining sensitive to parents' responses to such a discussion. At the start of the consultation it is important to give parents the opportunity to voice their concerns and expectations, and to explain to parents that a diagnosis may not be reached. © 2014 Wiley Periodicals, Inc. PMID:25250868

Steel, Emma J; Hodgson, Jan; Stirling, Lesley; White, Susan M

2014-11-01

378

[The clinical and pathological features of siblings with infantile neuroaxonal dystrophy--early neurological, radiological, neuroelectrophysiological and neuropathological characteristics].  

PubMed

The clinical and pathological features of siblings with infantile neuroaxonal dystrophy were reported. Early clinical symptoms were marked hypotonia in legs, mental regression and poor vision. Laboratory data were normal except for the mild elevation of GOT and LDH in serum and cerebrospinal fluid. MRI showed progressive atrophy of cerebellar vermis and brainstem. EEG showed a progressive increase in the amount and amplitude of the fast activities over the age of 3 years. Auditory brainstem response (ABR) showed progressive worsening with no response by 2 years and 6 months. Somatosensory evoked potentials (SEP) showed no cortical response by 4 years. Nerve conduction velocity (NCV) of both motor and sensory nerves was within normal limits. Pathologically, spheroid bodies were found in the axons of central and peripheral nerves, remarkably in brainstem and dorsal column. MRI, ABR and SEP findings were clinically useful, suggestive of the degeneration of brainstem. PMID:1591029

Itoh, K; Kawai, S; Nishino, M; Lee, Y; Negishi, H; Itoh, H

1992-05-01

379

[Diffuse xanthogranulomatous pyelonephritis: clinical, anatomopathologic, and therapeutic features. Report ot 9 cases and review of the literature].  

PubMed

Diffuse xanthogranulomatous pyelonephritis is a rare chronic pyelonephritis. This study permitted us to notice the various histological, clinical, radiological, and the different means diagnoses of this affection. Retrospectively series of nine patients is reported. The median age was 43 years. The commonest clinical presentation was urinary tract infection, and lumbar pain. Urine culture identified a bacteria in seven cases (77%). Intravenous urography recovers silent kidney (five cases), hydronephrosis (two cases), chronic pyelonephritis (one case) and renal stones in six cases (67%). Treatment consisted of nephrectomy. No specific biological or radiological signs of this affection can be identifying this lesion in preoperative. The diagnosis was revealed by the histological examination of the removed kidney. The outcome is favorable after a follow-up of six months to four years. The clinical features of the pyelonephritis xanthogranulomatous is not specific. Magnetic resonance imaging can give a specificity to this affection. Only histological examination is able to established the definitive diagnosis. PMID:11774761

Dahami, Z; Dakir, M; Aboutaieb, R; Sarf, I; Elattar, H; Azzouzi, S; Bennani, S; Elmrini, M; Benjelloun, S

2001-11-01

380

Magnetic resonance angiographic and clinical features of extracranial vertebral artery dissection  

Microsoft Academic Search

OBJECTIVESClinical data and neuroradiological findings of 19 patients with 20 vertebral artery dissections were analysed to describe the features of time of flight magnetic resonance angiography (MRA) for the diagnosis and follow up of this vascular disorder.METHODSAll patients underwent a combined MRI and MRA protocol with 1.5 T scanners, using a three dimensional flow compensated gradient echo sequence for MRA.

A Auer; S Felber; C Schmidauer; P Waldenberger; F Aichner

1998-01-01

381

A prospective study of acute idiopathic neuropathy. I. Clinical features and their prognostic value  

Microsoft Academic Search

A prospective study in South-East England during 15 months in 1983-1984 recruited 100 patients with acute idiopathic neuropathy. After 12 months 67% had recovered completely, 20% were still significantly disabled and 13% had died. Ten of the 13 deaths were attributable to the neuropathy. The major features in the initial assessment which were associated with persistent disability were the time

J B Winer; R A Hughes; C Osmond

1988-01-01

382

Angiotropic large B-cell lymphoma with clinical features resembling subacute combined degeneration of the cord  

Microsoft Academic Search

Angiotropic large cell lymphoma is a rare neoplastic disorder associated with a high mortality. The hallmark of the disease is lymphoid proliferation confined to the intravascular compartment without local tissue or vessel wall infiltration [1]. This feature is so striking that the disease was originally thought to arise from endothelial tissue and early cases were described as malignant angioendotheliomatosis. However,

W. S Waring; S. B Wharton; R Grant; M McIntyre

1999-01-01

383

Inhalant Withdrawal as a Clinically Significant Feature of Inhalant Dependence Disorder  

PubMed Central

Inhalant use is the intentional inhalation of vapors from commercial products or specific chemical agents for the purpose of achieving intoxication. Inhalants are among the most common and pernicious forms of substance use and the least studied of the major drugs. Diagnosis of inhalant dependence, according to the DSM-IV [1] excludes inhalant withdrawal symptoms, as expert opinion has suggested that an inhalant withdrawal syndrome is neither common nor clinically significant. This article draws from multiple sources of data to suggest that withdrawal symptoms can be part of inhalant dependence and are clinically significant. This hypothesis needs rigorous evaluation to ensure the diagnostic validity of inhalant use disorders. PMID:19632058

Perron, Brian E.; Howard, Matthew O.; Vaughn, Michael G.; Jarman, Christopher N.

2009-01-01

384

The Clinical Features of Binge Eating Disorder and Bulimia Nervosa: What Are the Differences?  

ERIC Educational Resources Information Center

Compares the clinical characteristics of binge eating disorder (BED) and the related syndrome bulimia nervosa (BN). Findings suggest individuals with BED are distinguishable from those with BN on a number of traits, including higher rates of obesity and lower levels of eating concern and dietary restraint. (Contains 29 references and 2 tables.)…

Sullivan, Keri A.

2001-01-01

385

Clinical and Laboratory Features of the Nocardia spp. Based on Current Molecular Taxonomy  

PubMed Central

The recent explosion of newly described species of Nocardia results from the impact in the last decade of newer molecular technology, including PCR restriction enzyme analysis and 16S rRNA sequencing. These molecular techniques have revolutionized the identification of the nocardiae by providing rapid and accurate identification of recognized nocardiae and, at the same time, revealing new species and a number of yet-to-be-described species. There are currently more than 30 species of nocardiae of human clinical significance, with the majority of isolates being N. nova complex, N. abscessus, N. transvalensis complex, N. farcinica, N. asteroides type VI (N. cyriacigeorgica), and N. brasiliensis. These species cause a wide variety of diseases and have variable drug susceptibilities. Accurate identification often requires referral to a reference laboratory with molecular capabilities, as many newer species are genetically distinct from established species yet have few or no distinguishing phenotypic characteristics. Correct identification is important in deciding the clinical relevance of a species and in the clinical management and treatment of patients with nocardial disease. This review characterizes the currently known pathogenic species of Nocardia, including clinical disease, drug susceptibility, and methods of identification. PMID:16614249

Brown-Elliott, Barbara A.; Brown, June M.; Conville, Patricia S.; Wallace, Richard J.

2006-01-01

386

Orbital and cerebral cavernomas: comparison of clinical, neuroimaging, and neuropathological features  

Microsoft Academic Search

Our results with 15 orbital cavernomas showed that there are important differences in comparison with cerebral cavernomas: in contrast all orbital cavernomas were embedded by a lilac hard and compact capsule. Clinical symptoms were characterized by the growth of the orbital cavernomas. There were no signs of hemorrhage, which is typical for cerebral cavernomas. The latter showed in contrast to

Nedal Hejazi; Reinhard Classen; Werner Hassler

1999-01-01

387

Mel frequency cepstral feature and Gaussian Mixtures for modeling clinical depression in adolescents  

Microsoft Academic Search

With suicidal behavior being linked to depression that starts at an early age of a person's life, many investigators are trying to find early tell-tale signs to assist psychologists in detecting clinical depression through acoustic analysis of a patient's speech. The purpose of this paper was to study the effectiveness of Mel frequency cepstral coefficients (MFCCs) in capturing the overall

Lu-shih Alex Low; Namunu Chinthaka Maddage; Margaret Lech; Nicholas Allen

2009-01-01

388

Infantile Cellular Schwannoma Developing on the Skin with Atypical Clinical Features  

PubMed Central

Cellular schwannoma (CS) is a variety of schwannoma with a predominantly cellular growth, normally developing in middle-aged patients. In this report, we describe a 15-month-old infant with primary cutaneous CS on the knee. Because of its histologically malignant features, CS is sometimes overdiagnosed as a malignant nerve tumor. Therefore, awareness of this variant of schwannoma is important for dermatologists to avoid needless treatments for patients with CS.

Fujimura, Taku; Tagami, Hachiro; Aiba, Setsuya

2014-01-01

389

Infantile cellular schwannoma developing on the skin with atypical clinical features.  

PubMed

Cellular schwannoma (CS) is a variety of schwannoma with a predominantly cellular growth, normally developing in middle-aged patients. In this report, we describe a 15-month-old infant with primary cutaneous CS on the knee. Because of its histologically malignant features, CS is sometimes overdiagnosed as a malignant nerve tumor. Therefore, awareness of this variant of schwannoma is important for dermatologists to avoid needless treatments for patients with CS. PMID:25232315

Fujimura, Taku; Tagami, Hachiro; Aiba, Setsuya

2014-05-01

390

Clinical and imaging features of male breast disease, with pathological correlation: a pictorial essay.  

PubMed

The majority of male breast diseases are benign. The most common is gynaecomastia. Although it is rare, the most critical diagnosis is a malignancy. Radiologists are generally less familiar with breast disease in males compared with females. This pictorial review will highlight the ultrasonographic, mammographic and pathological features of a spectrum of benign and malignant male breast diseases. This includes gynaecomastia, fat necrosis, lipoma, epidermoid cyst, subareolar abscess, chronic inflammation, melanoma and ductal carcinoma. PMID:24690244

Ng, Angeline Mei Lian; Dissanayake, Deepthi; Metcalf, Cecily; Wylie, Elizabeth

2014-04-01

391

Clinical significance, biochemical features, and susceptibility patterns of sporadic isolates of the Mycobacterium chelonae-like organism.  

PubMed Central

Mycobacterium chelonae-like organisms are nonpigmented rapidly growing mycobacteria whose clinical significance is unknown. We evaluated 87 sporadic isolates encountered in a clinical laboratory. Most isolates (62%) were respiratory; only 2 of 54 (4%) (both from patients with AIDS) were clinically significant. Among 33 nonrespiratory isolates, 20 of 33 (or 61%) were clinically significant. Clinical diseases included posttraumatic wound infections and catheter-related sepsis. Routine biochemical features included growth inhibition by 5% NaCl (100%), a smooth colony morphology (94%), positive 3-day arylsulfatase reaction (84%), no color or a light tan color on iron uptake (100%), and variable nitrate reduction (45%). Additional characteristics that helped to separate this group from M. chelonae and Mycobacterium abscessus were susceptibility to cephalothin (90%) and ciprofloxacin (100%), utilization of mannitol (94%) and citrate (83%) as carbon sources, and unique patterns of mycolic acid esters by high-performance liquid chromatography. This group was quite drug susceptible, with 100% of isolates inhibited by amikacin, imipenem, cefoxitin, cefmetazole, and the newer quinolones ciprofloxacin and ofloxacin. Three examples of this group, including a proposed type strain, have been deposited in the American Type Culture Collection. PMID:8308116

Wallace, R J; Silcox, V A; Tsukamura, M; Brown, B A; Kilburn, J O; Butler, W R; Onyi, G

1993-01-01

392

Similar clinical and neuroimaging features in monozygotic twin pair with mutation in progranulin  

PubMed Central

Objective: To report the phenotypic characterization of monozygotic twins with mutations encoding progranulin (PGRN). Methods: We studied a twin pair with an exon 4 gene deletion in the PGRN gene. Both twins had clinical and neuropsychological examinations as well as structural MRI and fluorodeoxyglucose PET (FDG-PET) scans. PGRN gene sequencing was performed followed by progranulin ELISA in plasma. Results: Both twins manifested symptoms within 3 years of each other, with early behavioral, language, dysexecutive, and memory problems. MRI and FDG-PET imaging demonstrated a strikingly similar topography of findings with clear left hemisphere predominance. Serum progranulin levels in both were well below those from a normal population sample. Conclusions: Compared with the heterogeneity seen in many families with PGRN mutations, these monozygotic twins demonstrated strong clinical, neuroimaging, and serum progranulin level similarities, demonstrating the importance of shared genetic profiles beyond environmental influences in the symptomatic expression of the disease. PMID:22491866

McDade, E.; Burrus, T.M.; Boot, B.P.; Kantarci, K.; Fields, J.; Lowe, V.J.; Peller, P.; Knopman, D.; Baker, M.; Finch, N.; Rademakers, R.; Petersen, R.

2012-01-01

393

Recurrent Compartment Syndrome in a Patient with Clinical Features of a Connective Tissue Disorder  

PubMed Central

Arterial complications are common in vascular type Ehlers-Danlos Syndrome (EDS), accounting for 66% of first complications. Several cases in the literature have documented acute compartment syndrome (ACS) following vascular rupture in vascular type EDS. Other disorders of connective tissue have also demonstrated vascular fragility, leading to arterial aneurysm and rupture, but there have been no documented cases of ACS. Here, we report on a female patient with a history of recurrent compartment syndrome who exhibits some clinical findings seen in hypermobile and vascular EDS; however she does not meet clinical and molecular diagnostic criteria for either of them. We further review the literature on ACS in heritable connective tissue disorders and suggest that compartment syndrome may rarely complicate other heritable disorders of connective tissue. PMID:23633393

Barajas, Brenda D; Sun, Angela; Rimoin, David L; Reinstein, Eyal

2013-01-01

394

Recurrent compartment syndrome in a patient with clinical features of a connective tissue disorder.  

PubMed

Arterial complications are common in vascular type Ehlers-Danlos syndrome (EDS), accounting for 66% of first complications. Several cases in the literature have documented acute compartment syndrome (ACS) following vascular rupture in vascular type EDS. Other disorders of connective tissue have also demonstrated vascular fragility, leading to arterial aneurysm and rupture, but there have been no documented cases of ACS. Here, we report on a female patient with a history of recurrent compartment syndrome who exhibits some clinical findings seen in hypermobile and vascular EDS; however she does not meet clinical and molecular diagnostic criteria for either of them. We further review the literature on ACS in heritable connective tissue disorders and suggest that compartment syndrome may rarely complicate other heritable disorders of connective tissue. PMID:23633393

Barajas, Brenda D; Sun, Angela; Rimoin, David L; Reinstein, Eyal

2013-06-01

395

Inflammatory mammary carcinoma in 12 dogs: Clinical features, cyclooxygenase-2 expression, and response to piroxicam treatment  

PubMed Central

Canine inflammatory mammary carcinoma (IMC) is a rare, locally aggressive, highly metastatic tumor that is poorly responsive to treatment. The purposes of this study were to retrospectively evaluate the history, signalment, and clinical signs of dogs with IMC; compare the outcome of affected dogs treated with traditional chemotherapy with those treated with piroxicam; evaluate Cox-2 expression of IMC cells; and correlate Cox-2 expression with outcome based on treatment. Strong cyclooxygenase-2 expression was present in all tumors. Improvement in clinical condition and disease stability was achieved in all dogs treated with piroxicam, with mean and median progression-free survival of 171 and 183 days, respectively. Median survival time of 3 dogs treated with doxorubicin-based protocols was 7 days, which was significantly less than that of dogs treated with piroxicam (median, 185 days). In conclusion, piroxicam should be considered as a single agent for the treatment of dogs with inflammatory mammary carcinoma. PMID:19436636

de M. Souza, Carlos H.; Toledo-Piza, Evandro; Amorin, Renee; Barboza, Andrigo; Tobias, Karen M.

2009-01-01

396

Ulcerative balanitis and vulvitis of Dorper sheep in South Africa: a study on its aetiology and clinical features.  

PubMed

Ovine ulcerative balanitis and vulvitis in sheep of the Dorper breed has been observed in South Africa since 1979. Its aetiology has not been conclusively resolved, and there is some discrepancy in descriptions of its clinical features. In order to identify the pathogenic micro-organism/s that contribute to the occurrence of the disease, the microflora in the genital tracts of both clinically healthy and affected sheep were isolated and compared. Bacteriological examination of materials from affected and unaffected sheep resulted in the isolation of Arcanobacterium pyogenes from 44.2% and 17.2% of them respectively. This difference is statistically significant (P < 0.01). Seventy-four per cent of the isolates originated from severe clinical cases. Mycoplasmas were isolated from 49.3% of 116 clinically normal sheep and 78.2% of 104 affected sheep. There were significant differences in their rates of isolation in clinical groups (P < 0.05). Of all the mycoplasma isolates, Mycoplasma mycoides mycoides large colony variant (MmmLC) was isolated from 61.5% of clinically diseased sheep while 6.0% of the isolates were from apparently healthy animals (P < 0.05). The study threw light on the prevalence of mycoplasmas in the genital tract of apparently healthy sheep and, at the same time the identity of the mycoplasma pathogen associated with ulcerative balanitis and vulvitis was revealed. The findings of this investigation therefore confirmed the involvement of mycoplasma, particularly that of MmmLC large colony, in the disease in Dorper sheep in South Africa, and it was concluded that this microorganism is an important pathogen of balanitis and vulvitis in them. The study furthermore demonstrated a probable synergism between A. pyogenes and MmmLC. Finding these 2 organisms together occurred 53.4 times more frequently in the affected sheep than in the unaffected, which emphasises the probable multifactorial nature of the disease. The association between age and the presence of clinical signs was statistically significant. It was found that young sheep were more likely to have lesions than adult sheep. Clinical observations showed that the typical ulceration appears to be confined to the glans penis and lips of the vulva; no ulceration was observed on the shaft of the penis and prepuce or vaginal vestibule. In uncomplicated cases inflammation of the prepuce and vaginal vestibule is not a regular feature of the disease. Therefore the names ulcerative balanitis and vulvitis most accurately describe the nature of the disease in South Africa. PMID:16642715

Kidanemariam, A; Gouws, J; van Vuuren, M; Gummow, B

2005-12-01

397

High-risk angina patient. Identification by clinical features, hospital course, electrocardiography and technetium-99m stannous pyrophosphate scintigraphy  

SciTech Connect

We evaluated 193 consecutive unstable angina patients by clinical features, hospital course and electrocardiography. All patients were managed medically. Of the 193 patients, 150 (78%) had a technetium-99m pyrophosphate (Tc-PYP) myocardial scintigram after hospitalization. Of these, 49 (33%) had positive scintigrams. At a follow-up of 24.9 +/- 10.8 months after hospitalization, 16 of 49 patients (33%) with positive scintigrams died from cardiac causes, compared with six of 101 patients (6%) with negative scintigrams (p less than 0.001). Of 49 patients with positive scintigrams, 11 (22%) had had nonfatal myocardial infarction at follow-up, compared with seven of 101 patients (7%) with negative scintigrams (p less than 0.01). Age, duration of clinical coronary artery disease, continuing angina during hospitalization, ischemic ECG, cardiomegaly and a history of heart failure also correlated with cardiac death at follow-up. Ischemic ECG and a history of angina with a crescendo pattern also correlated with nonfatal infarction at follow-up. Patients with continuing angina, an ischemic ECG and a positive scintigram constituted a high-risk unstable angina subgroup with a survival rate of 58% at 6 months, 47% at 12 months and 42% at 24 and 36 months. We conclude that the assessment of clinical features, hospital course, ECG and Tc-PYP scintigraphy may be useful in identifying high-risk unstable angina patients.

Olson, H.G.; Lyons, K.P.; Aronow, W.S.; Stinson, P.J.; Kuperus, J.; Waters, H.J.

1981-10-01

398

High-risk angina patient: identification by clinical features, hospital course, electrocardiography, and technetium-99m stannous pyrophosphate scintigraphy  

SciTech Connect

We evaluated 193 consecutive unstable angina patients by clinical features, hospital course and electrocardiography. All patients were managed medically. Of the 193 patients, 150 (78%) had a technetium-99m pyrophosphate (Tc-PYP) myocardial scintigram after hospitalization. Of these, 49 (33%) had positive scintigrams. At a follow-up of 24.9 +- 10.8 months after hospitalization, 16 of 49 patients (33%) with positive scintigrams died from cardiac causes, compared with six of 101 patients (6%) with negative scintigrams (p < 0.001). Of 49 patients with positive scintigrams, 11 (22%) had had nonfatal myocardial infarction at follow-up, compared with seven of 101 patients (7%) with negative scintigrams (p < 0.01). Age, duration of clinical coronary artery disease, continuing angina during hospitalization, ischemic ECG, cardiomegaly and a history of heart failure also correlated with cardiac death at follow-up. Ischemic ECG and a history of angina with a crescendo pattern also correlated with nonfatal infarction at follow-up. Patients with continuing angina, an ischemic ECG and a positive scintigram constituted a high-risk unstable angina subgroup, with a survival rate of 58% at 6 months, 47%