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1

A Case of Late-Onset MELAS  

Microsoft Academic Search

e describe a 60-year-old man with MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) and discuss the mito- chondrial DNA point mutation 3243. A diagnosis of MELAS should be consid- ered in the appropriate clinical setting at any age. Arch Neurol. 1998;55:722-725 Mitochondrial myopathy, encephalopa- thy, lactic acidosis, and strokelike epi- sodes (MELAS) characterize a rare disor- der

Kevin G. Kimata; Lucio Gordan; E. Todd Ajax; Patricia H. Davis; Thomas Grabowski

1998-01-01

2

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

3

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

4

Layered Rocks of Melas  

NASA Technical Reports Server (NTRS)

04 August 2004 This Mars Global Surveyor (MGS) Mars Orbiter Camera (MOC) image shows layered sedimentary rock outcrops exposed by erosion in southern Melas Chasma, one of the major Valles Marineris troughs. Such outcrops are common in southern Melas; they resemble the rock outcrops seen in some of the chaotic terrains and other Valles Marineris chasms. This image is located near 11.9oS, 74.6oW, and is about 3 km (1.9 mi) wide. Sunlight illuminates the scene from the lower left.

2004-01-01

5

Sedimentary Rocks in Melas  

NASA Technical Reports Server (NTRS)

This Mars Global Surveyor (MGS) Orbiter Camera (MOC) image shows a butte and several other landforms eroded into light-toned, layered, sedimentary rock in southern Melas Chasma. Melas is part of the vast Valles Marineris trough system.

Location near: 11.8oS, 74.6oW Image width: 3.0 km (1.9 mi) Illumination from: lower left Season: Southern Spring

2005-01-01

6

A whole mitochondrial genome screening in a MELAS patient: A novel mitochondrial tRNA{sup Val} mutation  

SciTech Connect

Highlights: {yields} We report a young Tunisian patient with clinical features of MELAS syndrome. {yields} Reported mitochondrial mutations were absent after a mutational screening of the whole mtDNA. {yields} We described a novel m.1640A>G mutation in the tRNA{sup Val} gene which was absent in 150 controls. {yields} Mitochondrial deletions and POLG1 gene mutations were absent. {yields} The m.1640A>G mutation could be associated to MELAS syndrome. -- Abstract: Mitochondrial encephalopathy, lactic acidosis and strokelike episodes (MELAS) syndrome is a mitochondrial disorder characterized by a wide variety of clinical presentations and a multisystemic organ involvement. In this study, we report a Tunisian girl with clinical features of MELAS syndrome who was negative for the common m.3243A>G mutation, but also for the reported mitochondrial DNA (mtDNA) mutations and deletions. Screening of the entire mtDNA genome showed several known mitochondrial variants besides to a novel transition m.1640A>G affecting a wobble adenine in the anticodon stem region of the tRNA{sup Val}. This nucleotide was conserved and it was absent in 150 controls suggesting its pathogenicity. In addition, no mutations were found in the nuclear polymerase gamma-1 gene (POLG1). These results suggest further investigation nuclear genes encoding proteins responsible for stability and structural components of the mtDNA or to the oxidative phosphorylation machinery to explain the phenotypic variability in the studied family.

Mezghani, Najla [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia)] [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia); Mnif, Mouna [Service d'endocrinologie, C.H.U. Habib Bourguiba de Sfax (Tunisia)] [Service d'endocrinologie, C.H.U. Habib Bourguiba de Sfax (Tunisia); Kacem, Maha [Service de Medecine interne, C.H.U. Fattouma Bourguiba de Monastir (Tunisia)] [Service de Medecine interne, C.H.U. Fattouma Bourguiba de Monastir (Tunisia); Mkaouar-Rebai, Emna, E-mail: emna_mkaouar@mail2world.com [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia)] [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia); Hadj Salem, Ikhlass [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia)] [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia); Kallel, Nozha; Charfi, Nadia; Abid, Mohamed [Service d'endocrinologie, C.H.U. Habib Bourguiba de Sfax (Tunisia)] [Service d'endocrinologie, C.H.U. Habib Bourguiba de Sfax (Tunisia); Fakhfakh, Faiza [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia)] [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia)

2011-04-22

7

Melas Sedimentary Rocks  

NASA Technical Reports Server (NTRS)

17 July 2004 This Mars Global Surveyor (MGS) Mars Orbiter Camera (MOC) image shows layered, sedimentary rock outcrops in southwestern Melas Chasma, one of the troughs of the vast Valles Marineris system. Sunlight illuminates this scene from the upper left; it is located near 9.8oS, 76.0oW, and covers an area about 3 km (1.9 mi) wide.

2004-01-01

8

Melas Sedimentary Rocks  

NASA Technical Reports Server (NTRS)

28 August 2004 Light-toned, layered, sedimentary rock outcrops are common within the vast martian Valles Marineris trough system. This Mars Global Surveyor (MGS) Mars Orbiter Camera (MOC) image shows a recent example from southern Melas Chasma at 1.5 m/pixel (5 ft/pixel) resolution. The image is located near 11.3oS, 73.9oW, and covers an area about 1.8 km (1.1 mi) across. Sunlight illuminates the scene from the upper left.

2004-01-01

9

Layered Rocks In Melas  

NASA Technical Reports Server (NTRS)

20 June 2004 This Mars Global Surveyor (MGS) Mars Orbiter Camera (MOC), image shows exposures of finely-bedded sedimentary rocks in western Melas Chasma, part of the vast Valles Marineris trough system. Rocks similar to these occur in neighboring west Candor Chasma, as well. The picture is located near 9.1oS, 74.5oW, and covers an area about 3 km (1.9 mi) wide. The scene is illuminated by sunlight from the left/upper left.

2004-01-01

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

Melas Chasma Landslide  

NASA Technical Reports Server (NTRS)

[figure removed for brevity, see original site] Context image for PIA03041 Dunes in Darwin Crater

The landslide in the center of this image occurred in the Melas Chasma region of Valles Marineris.

Image information: VIS instrument. Latitude 11S, Longitude 292.6E. 17 meter/pixel resolution.

Note: this THEMIS visual image has not been radiometrically nor geometrically calibrated for this preliminary release. An empirical correction has been performed to remove instrumental effects. A linear shift has been applied in the cross-track and down-track direction to approximate spacecraft and planetary motion. Fully calibrated and geometrically projected images will be released through the Planetary Data System in accordance with Project policies at a later time.

NASA's Jet Propulsion Laboratory manages the 2001 Mars Odyssey mission for NASA's Office of Space Science, Washington, D.C. The Thermal Emission Imaging System (THEMIS) was developed by Arizona State University, Tempe, in collaboration with Raytheon Santa Barbara Remote Sensing. The THEMIS investigation is led by Dr. Philip Christensen at Arizona State University. Lockheed Martin Astronautics, Denver, is the prime contractor for the Odyssey project, and developed and built the orbiter. Mission operations are conducted jointly from Lockheed Martin and from JPL, a division of the California Institute of Technology in Pasadena.

2005-01-01

12

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

2015-01-01

13

Vasodilatation of multiple cerebral arteries in early stage of stroke-like episode with MELAS.  

PubMed

We describe a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), with multiple cerebral vasodilatations in a stroke-like episode visualised by using magnetic resonance angiography (MRA) and CT angiography (CTA). In the acute stroke-like episode stage, T2-weighted and fluid-attenuated inversion recovery MRI showed high-intensity areas in the left occipital area. In addition, MRA and CTA revealed prominent dilatation of the left posterior cerebral artery and temporal branches of the middle cerebral artery with focal hyperperfusions using CT perfusion (CTP) that corresponded to the MRI. After 10days, with the development of aphasia, MRI indicated the lesions had spread to the temporal and parietal regions, and this distribution was not confined to major vascular territories. The patient's symptoms gradually improved, accompanied by the attenuation of MRI, CTA, and CTP findings. These characteristic features along with the MRI changes that spread beyond vascular boundaries and the multiple cerebral vasodilatations prior to the development of clinical symptoms are not fully explained by the mitochondrial angiopathy or cytopathy theories. These findings provide further evidence supporting neuronal hyperexcitability in stroke-like episodes of MELAS. PMID:25128282

Minobe, Shoko; Matsuda, Akiko; Mitsuhashi, Tetsuya; Ishikawa, Motonao; Nishimura, Yoshiko; Shibata, Koichi; Ito, Eiichi; Goto, Yu-Ichi; Nakaoka, Takashi; Sakura, Hiroshi

2015-02-01

14

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

15

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

16

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

17

Intravoxel incoherent motion magnetic resonance imaging findings in the acute phase of MELAS: a case report  

PubMed Central

Objective We report the clinical application of intravoxel incoherent motion (IVIM) magnetic resonance (MR) imaging to diagnose a case of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) in the acute phase. Results On IVIM MR Images of this patient, higher perfusion (f) and diffusion (D) values in the left occipital and temporal lobes were found compared to the contralateral areas. Conclusion These findings imply a breakdown of autoregulation with hyperperfusion and vasogenic edema during the acute phase of MELAS, as described in previous reports. IVIM imaging is a valuable, noninvasive tool that simultaneously quantifies perfusion and diffusion parameters. PMID:25365795

Uehara, Ryuji; Yamashita, Koji; Hiwatashi, Akio; Togao, Osamu; Kikuchi, Kazufumi; Yokoyama, Jun; Matsuse, Dai; Yoshiura, Takashi; Honda, Hiroshi

2014-01-01

18

Melas Chasma - Morphology and tectonic patterns in Central Valles Marineris (Mars)  

Microsoft Academic Search

The central Valles Marineris is the widest part of the equatorial trough system of Mars. Melas Chasma and parts of Coprates and Candor Chasmata provide some of the clearest clues on the relationships between erosional landforms, deposits, and various volcanic and tectonic features. A detailed geomorphic study of the troughs allows the identification of faults and other structures in most

J. P. Peulvast; Ph. L. Masson

1993-01-01

19

Neuromyelitis optica: clinical manifestations and neuroimaging features.  

PubMed

Neuromyelitis optica (NMO) is a severe inflammatory demyelinating disease of the central nervous system with distinguishing features from multiple sclerosis. Understanding of clinical presentation, immunopathology, and imaging features has changed during the last decade. The identification of NMO immunoglobulin G and aquaporin 4 as the target antigen in this disease helped to define the NMO spectrum of disorders and showed that NMO is an autoimmune channelopathy of the central nervous system. Several types of brain involvement have been described in patients with NMO. This article discusses the epidemiology, clinical manifestations, and immunopathogenesis of the disease with an emphasis on neuroimaging. PMID:23186898

Sahraian, Mohammad Ali; Radue, Ernst-Wilhelm; Minagar, Alireza

2013-02-01

20

Nasolabial cysts: clinical features, diagnosis, and treatment.  

PubMed

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 2004. Clinical data, presenting symptoms, clinical features, pathological findings, preoperative investigations, treatment, and outcome were analysed for each case. We found 17 patients with nasolabial cysts. The findings of adult onset, higher incidence among women and preponderance on the left side confirmed current opinion. The clinical diagnosis of nasolabial cyst was accurate in all cases. Preoperative computed tomograms (CTs) done for one patient did not alter the management. All patients had the cysts excised completely through a sublabial incision. Breaches of the nasal vestibular mucosa healed spontaneously without repair. Histopathological examination showed that cysts were lined with pseudostratified columnar (n=9), stratified squamous (n=4), mixed respiratory and squamous epithelium (n=3), and simple cuboidal epithelium (n=1). No patient developed complications or recurrences. Nasolabial cysts are relatively common in Singapore, and the diagnosis must be kept in mind if they are to be treated early. Diagnosis is based on clinical features and the treatment of choice is complete excision. PMID:17030357

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

2007-06-01

21

Clinical and radiographic maxillofacial features of pycnodysostosis  

PubMed Central

The aim of this study was to review of the literature to determine the radiographic and clinical maxillofacial features of pycnodysostosis emphasizing the main aspects of interest to the dentist in order to make them fit for the proper treatment of this population. It is important to make the diagnosis as early as possible in order to plan the treatment more suitable to provide a better life’s quality to the patients. The most frequent clinical maxillofacial features were: grooved palate, midfacial hypoplasia, mandibular hypoplasia and enamel hypoplasia. The most common radiographic maxillofacial features were: obtuse mandibular angle, frontal/parietal/occiptal bossing, open fontanels and sutures, multiple impacted teeth. The earlier diagnostic of pycnodysostosis has a fundamental role in general health of the patients. We consider that is very important that the dentist know recognize the radiographic and clinical maxillofacial features of pycnodysostosis, which allows correct treatment planning avoiding risks and ensuring better life’s quality to the patients. PMID:24753741

Alves, Nilton; Cantín, Mario

2014-01-01

22

Dermoscopic and clinical features of trunk melanomas  

PubMed Central

Introduction Malignant melanomas account for 5% of all skin cancers and usually have a fatal clinical course. Additionally, the incidence of melanoma increases more rapidly than in any other cancer, and this has been attributed to the development of highly sensitive diagnostic techniques, mainly dermoscopy, which allows for early diagnosis. The phenotypic manifestations of gene/environment interactions, environmental factor and genetic factors may determine subtypes and anatomic localization of melanoma. Histopathologic subtypes, risk factors, and thickness of the skin are different in trunk melanomas. Aim To determine the frequency of dermatoscopic features in trunk melanomas. This study also investigates dermoscopic features according to the diameter of lesions. Material and methods Seventy-one trunk melanomas were included. Their dermoscopic and clinical images, histopathological and clinical data were assessed. The relations between the diameter, Breslow thickness and dermoscopic characteristics were evaluated. Results The most common dermoscopic findings of trunk melanomas were the multicomponent pattern (55 patients, 77.5%), asymmetry (62 patients; 87.3%), blue-gray veil (59 patients, 83.1%), and color variety (56 patients, 78.8%). When dermoscopic findings were compared, a multicomponent pattern (p = 0.03), milky-red areas (p = 0.001), blue-gray veils (p = 0.023), and regression structures (p = 0.037) were more common in large melanomas than in small melanomas. Conclusions The most common dermoscopic findings of trunk melanomas were the multicomponent pattern, asymmetry and blue-gray veil, color variety. The multicomponent pattern, milky-red areas, blue-gray veils, regression structures were statistically significant dermoscopic features in a group of large-diameter melanomas, compared to small melanomas. PMID:25610350

Emiroglu, Nazan; Hofmann-Wellenhof, Rainer

2014-01-01

23

Clinical and neuroimaging features of “idiopathic” syringomyelia  

PubMed Central

In some adult patients with cervical syringomyelia, MRI studies do not identify primary disease within the foramen magnum or spinal canal. To identify the etiology of this idiopathic type of syringomyelia, clinical features and posterior fossa (PF) measurements from 17 of these patients, 17 patients with Chiari I-type syringomyelia, and 32 control subjects were compared. Idiopathic syringomyelia and Chiari I-type syringomyelia manifested central cervical myelopathy and a small PF with narrow CSF spaces, suggesting that they develop by the same mechanism. PMID:15007134

Bogdanov, E.I.; Heiss, J.D.; Mendelevich, E.G.; Mikhaylov, I.M.; Haass, A.

2014-01-01

24

Biochemical and clinical features of hereditary hyperprolinemia  

PubMed Central

There are two classifications of hereditary hyperprolinemia: type I (HPI) and type II (HPII). Each type is caused by an autosomal recessive inborn error of the proline metabolic pathway. HPI is caused by an abnormality in the proline-oxidizing enzyme (POX). HPII is caused by a deficiency of ?-1-pyrroline-5-carboxylate (P5C) dehydrogenase (P5CDh). The clinical features of HPI are unclear. Nephropathy, uncontrolled seizures, mental retardation or schizophrenia have been reported in HPI, but a benign phenotype without neurological problems has also been reported. The clinical features of HPII are also unclear. In addition, the precise incidences of HPI and HPII are unknown. Only two cases of HPI and one case of HPII have been identified in Japan through a questionnaire survey and by a study of previous reports. This suggests that hyperprolinemia is a very rare disease in Japan, consistent with earlier reports in Western countries. The one case of HPII found in Japan was diagnosed in an individual with influenza-associated encephalopathy. This suggests that HPII might reduce the threshold for convulsions, thereby increasing the sensitivity of individuals with influenza-associated encephalopathy. The current study presents diagnostic criteria for HPI and HPII, based on plasma proline level, with or without measurements of urinary P5C. In the future, screening for HPI and HPII in healthy individuals, or patients with relatively common diseases such as developmental disabilities, epilepsy, schizophrenia or behavioral problems will be important. PMID:24931297

Mitsubuchi, Hiroshi; Nakamura, Kimitoshi; Matsumoto, Shirou; Endo, Fumio

2014-01-01

25

Biochemical and clinical features of hereditary hyperprolinemia.  

PubMed

There are two classifications of hereditary hyperprolinemia: type I (HPI) and type II (HPII). Each type is caused by an autosomal recessive inborn error of the proline metabolic pathway. HPI is caused by an abnormality in the proline-oxidizing enzyme (POX). HPII is caused by a deficiency of ?-1-pyrroline-5-carboxylate (P5C) dehydrogenase (P5CDh). The clinical features of HPI are unclear. Nephropathy, uncontrolled seizures, mental retardation or schizophrenia have been reported in HPI, but a benign phenotype without neurological problems has also been reported. The clinical features of HPII are also unclear. In addition, the precise incidences of HPI and HPII are unknown. Only two cases of HPI and one case of HPII have been identified in Japan through a questionnaire survey and by a study of previous reports. This suggests that hyperprolinemia is a very rare disease in Japan, consistent with earlier reports in Western countries. The one case of HPII found in Japan was diagnosed in an individual with influenza-associated encephalopathy. This suggests that HPII might reduce the threshold for convulsions, thereby increasing the sensitivity of individuals with influenza-associated encephalopathy. The current study presents diagnostic criteria for HPI and HPII, based on plasma proline level, with or without measurements of urinary P5C. In the future, screening for HPI and HPII in healthy individuals, or patients with relatively common diseases such as developmental disabilities, epilepsy, schizophrenia or behavioral problems will be important. PMID:24931297

Mitsubuchi, Hiroshi; Nakamura, Kimitoshi; Matsumoto, Shirou; Endo, Fumio

2014-08-01

26

Pulmonary strongyloidiasis: clinical and imaging features.  

PubMed

Strongyloides stercoralis is an important cause of severe pulmonary infection and death in many areas of the world [1, 2]. The nematode is endemic in the tropical and subtropical regions of the world, including the southeastern United States and Puerto Rico, where infection rates may exceed 6% of the population [1, 3-7]. Although pulmonary symptoms from strongyloidiasis can be mild, consisting only of cough and bronchospasm, the potential for severe pulmonary disease and adult respiratory distress syndrome is great in certain persons at high risk for strongyloidiasis [1, 2]. Unfortunately, pulmonary strongyloidiasis is seldom diagnosed until late in the course of the disease, which contributes to a high death rate [1, 2, 5, 8]. We review the clinical and imaging features of pulmonary strongyloidiasis and emphasize clues that can lead to earlier diagnosis, recognition of complications, and prompt treatment. PMID:8109492

Woodring, J H; Halfhill, H; Reed, J C

1994-03-01

27

Clinical features of intracranial vestibular schwannomas  

PubMed Central

The aim of the present study was to discuss the clinical features of intracranial vestibular schwannomas and to evaluate the symptoms and signs as well as their correlation with tumor extension. The records of 1,009 patients who were treated in Shanghai Huashan Hospital were reviewed retrospectively. According to the Samii classification of 1997, the patients were grouped into a T3 and a T4 group based on the radiological findings. We focused our analysis on the incidence of subjective disturbances versus objective morbidity, and symptomatology versus tumor size and extension. Of the 1,009 cases, 424 patients (42.0%) were defined as T3 while 585 patients (58%) were defined as T4. The most frequent clinical symptoms were hearing loss (85.8%), facial numbness (48.9%), ataxia (44.6%), tinnitus (40.1%), deafness (26.3%) and facial paralysis (21.1%). The ratios of gender, vertigo and facial paralysis were significantly different between the T3 and T4 groups (P<0.05); however, none of the clinical symptoms had a positive likelihood ratio (PLR) greater than 10 for T4 prediction. The most frequent cranial nerve disturbance was associated with the cochlear nerve (92.6%) and trigeminal nerve (53.5%). Disturbance of the facial nerve was more severe in T3 than T4 patients (P<0.05). Hearing deficit, facial paresthesia, ataxia and tinnitus are key symptoms of huge vestibular schwannomas. Cochlear, trigeminal and facial nerves were the most commonly affected cranial nerves in cases of large tumors. Gender and tumor size were associated with tumor extension. Although the predictive value was limited, the symptoms of vertigo, facial paralysis and hearing loss may be indicators of tumor growth. PMID:23255894

HUANG, XIANG; XU, JIAN; XU, MING; ZHOU, LIANG-FU; ZHANG, RONG; LANG, LIQIN; XU, QIWU; ZHONG, PING; CHEN, MINGYU; WANG, YING; ZHANG, ZHENYU

2013-01-01

28

Clinical features of the congenital vitreoretinopathies.  

PubMed

The inherited vitreoretinal degenerations or vitreoretinopathies are characterized by congenital and acquired disorders of the eye including early onset cataract, anomalies of the vitreous manifesting as optically empty vitreous, course fibrils, and membranes, and retinal detachment. These diseases include Stickler syndrome types I (STL1) and II (STL2), usually caused by mutations in COL2A1 and COL11A1 respectively. Wagner syndrome (WGN1) is associated with mutations in versican (CSPG2) and snowflake vitreoretinal degeneration (SVD) with a mutation in a potassium channel (KCNJ13). The cataract is often cortical and may be wedge-shaped, but does not distinguish between the different syndromes. The congenital vitreous defect is usually characterized as fibrillar degeneration (STL2, WGN1, and SVD) or as a vestigial membrane just behind the lens (STL1). Peripheral chorioretinal atrophy with nyctalopia is prominent in WGN1. Intraretinal crystals may be visible in the periphery using a contact lens in SVD and corneal guttae, a flat appearance to the optic nerve head and mild atrophy of the peripheral retinal pigment epithelium are also common features. Other vitreoretinal degenerations including a number of chondrodysplasias in addition to STL1 and STL2, enhanced S-cone syndrome caused by mutations in NR2E3, and autosomal dominant vitreoretinochoroidopathy caused by mutations in VMD2 are discussed. Patients with unexplained early onset cataract or retinal detachment should be carefully evaluated for vitreoretinal degeneration. Theses diseases share overlapping clinical features with common complex traits affecting the eye (myopia, corneal endothelial dystrophy, lattice degeneration), and may provide insight into the mechanisms of common eye diseases. PMID:18309337

Edwards, A O

2008-10-01

29

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

30

Clinical Features of the Polycystic Ovary Syndrome  

Microsoft Academic Search

The features of polycystic ovary syndrome (PCOS) may be elicitable on obtaining the history or on physical exam. Biochemical\\u000a or radiographic evaluation may also reveal additional features (see Chapters 16 and 17). The medical history will provide important information regarding the presenting complaint, the onset\\u000a and progression of hyperandrogenic signs and symptoms, menstrual dysfunction and irregularity, and weight gain. Usually,

Walter Futterweit; Evanthia Diamanti-Kandarakis; Ricardo Azziz

31

Hypophosphatemic rickets: etiology, clinical features and treatment.  

PubMed

Hypophosphatemic rickets (HR) is a genetic disorder, which prevents sufficient reabsorption of phosphate in the proximal renal tubule, with increased phosphate excretion, resulting in rickets. The more common form of HR is an X-linked inherited trait, with a prevalence of 1/20,000. The defective gene is located on the X chromosome, but females may present with a wide variety of clinical manifestations. The less common form of HR is caused by autosomal-dominant transmission. Activating mutations of the fibroblast growth factor 23 (FGF-23) gene and inactivating mutations in the phosphate regulating gene (PHEX gene with homologies to endopeptidases on the X chromosome), involved in the regulation of FGF-23, have been identified and have been implicated in the pathogenesis of these disturbances. A review of etiopathogenesis and clinical, differential diagnostic and therapeutic aspects of HR, with a particular emphasis on bone impairment, is reported. PMID:24957364

Pavone, Vito; Testa, Gianluca; Gioitta Iachino, Salvatore; Evola, Francesco Roberto; Avondo, Sergio; Sessa, Giuseppe

2015-02-01

32

Mycoplasma pneumonia: Clinical features and management  

PubMed Central

Mycoplasma pneumonia is a common respiratory pathogen that produces diseases of varied severity ranging from mild upper respiratory tract infection to severe atypical pneumonia. Apart from respiratory tract infections, this organism is also responsible for producing a wide spectrum of non-pulmonary manifestations including neurological, hepatic, cardiac diseases, hemolytic anemia, polyarthritis and erythema multiforme. This review focuses on molecular taxonomy, biological characteristics, epidemiology, clinical presentation, radiology and various laboratory tools in diagnosis, differential diagnosis, treatment and prevention of mycoplasma pneumonia. PMID:20616940

Kashyap, Surender; Sarkar, Malay

2010-01-01

33

Malignant insulinoma: spectrum of unusual clinical features  

PubMed Central

Background Malignant insulinoma occurs in a few patients with insulinoma. Due to the small sample of patients, there are little data regarding their clinical manifestation as well as the preferred treatment modalities. The aims of the current study were to summarize the National Institutes of Health experience during the last two decades and to conduct a critical review of the current literature. Methods The authors identified 10 patients with metastatic insulinoma. Results The patients presented with four patterns of clinical behavior. First, four patients presented with lymph node metastasis and, after surgical excision, maintained a prolonged tumor-free survival. Second, four patients presented with metastatic disease to the liver, which appeared years after the initial diagnosis and presumed curative surgery. Third, one patient presented with a large ?-fetoprotein-secreting liver mass. Finally, 9 of the 10 patients had a prolonged survival. Various treatment modalities were used to control hypoglycemia. Short-term benefits were most often achieved with embolization and diazoxide. Less successful modalities included radiofrequency ablation, radical debulking surgery, verapamil therapy, octreotide therapy, and chemotherapy. Conclusions The current study, as well as others, suggested that metastatic insulinoma may have a variable natural history. After the initial surgical resection, the biology of the tumor, rather than any treatment modality, was most likely the major determinant of long-term survival. Published 2005 by the American Cancer Society.* PMID:15937909

Hirshberg, Boaz; Cochran, Craig; Skarulis, Monica C.; Libutti, Steven K.; Alexander, H. Richard; Wood, Bradford J.; Chang, Richard; Kleiner, David E.; Gorden, Phillip

2014-01-01

34

Clinical features of non-tuberculous constrictive pericarditis  

Microsoft Academic Search

Ikram, H., Banim, S. O., and Makey, A. R. (1974).Thorax, 29, 204-208. Clinical features of non-tuberculous constrictive pericarditis. This paper describes the clinical features of five cases of constrictive pericarditis of non-tuberculous aetiology. The findings in this syndrome are compared with those in tuberculous constrictive pericarditis. The non-tuberculous variety had a short history, and absence of ascites and third heart

Hamid Ikram; Seamus O. Banim; Arthur R. Makey

1974-01-01

35

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

36

Porphyria cutanea tarda: clinical and laboratory features.  

PubMed Central

Eleven patients with porphyria cutanea tarda were studied. Biochemical confirmation of the clinical diagnosis required only determination of the total urine porphyrin concentration in a sample of urine voided on rising in the morning. The patients were divided for convenience of discussion into four groups differing in age, sex and etiologic factors. Of the six patients in whom a liver biopsy was done one was shown to have micronodular cirrhosis. Except for a modest elevation in the serum glutamic oxaloacetic transaminase values when the patients were first seen, no evidence was found for liver disease apart from the presence of porphyria cutanea tarda. One patient recovered solely by abstaining from alcohol consumption. Five patients underwent phlebotomy; their iron stores had been found to be between 2 and 3 g. Decreasing urine porphyrin values correlated well with decreasing serum ferritin values during the course of phlebotomy. Porphyria cutanea tarda, which is due to a deficiency of uroporphyrinogen decarboxylase, is manifested in association with alcohol abuse, estrogen therapy, exposure to chlorinated hydrocarbons or increased tissue iron stores, or a combination of these factors. Although relatively uncommon, this condition raises important and unresolved issues regarding the hepatotoxicity of alcohol, estrogens, chlorinated hydrocarbons and iron. PMID:427687

Sweeney, G. D.; Jones, K. G.

1979-01-01

37

Clinical features of late-onset idiopathic aqueductal stenosis  

Microsoft Academic Search

BACKGROUNDAlthough late-onset idiopathic aqueductal stenosis (LIAS) is considered a good indication for endoscopic third ventriculostomy (ETV), the characteristics of this clinical entity have seldom been reported in the magnetic resonance (MR) imaging era. The authors reviewed their patients with LIAS who were treated by ETV to confirm its clinical features and response to treatment.METHODSThe study group was composed of 31

Toru Fukuhara; Mark G Luciano

2001-01-01

38

Alzheimer-type pathology in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)  

Microsoft Academic Search

A 53-year-old Japanese woman with a point mutation in mitochondrial DNA (tRNALeu(UUR), nt3243) consistent with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and Alzheimer-type\\u000a brain pathology is reported. This woman had suffered myopathy and psychosis without any clinical evidence of, stroke-like\\u000a episodes during the last 10 years of her life, and had died after an accident. At autopsy

M. Kaido; H. Fujimura; F. Soga; K. Toyooka; H. Yoshikawa; T. Nishimura; T. Higashi; K. Inui; H. Imanishi; S. Yorifuji; T. Yanagihara

1996-01-01

39

[Clinical features of accessory parotid gland tumors].  

PubMed

Accessory parotid gland tumors are relatively rare; hence, adequately detailed clinical analyses of these tumors are difficult to perform at a single institution. In this report, we describe the findings for 65 patients [29 men, 36 women; median age, 51 (9-81) years] with accessory parotid gland tumors, consisting of 4 cases documented by us and 61 cases previously reported by other Japanese authors. Approximately 50% of the patients were treated in an otolaryngology department, while the remaining patients were treated in plastic surgery, oral surgery, or dermatology departments. In 4 patients, the results of preoperative fine-needle aspiration cytology indicated that the tumor was benign; however, the postoperative histopathology results revealed malignant tumors. The frequencies of malignant and benign tumors were 44.6% (n = 29) and 55.4% (n = 36), respectively. Mucoepidermoid carcinoma and pleomorphic adenoma were the most frequent types of malignant and benign accessory parotid gland tumors, respectively. Among the various surgical methods that were used, such as direct cheek and intraoral incisions, a standard parotidectomy incision was the most preferred treatment approach for these tumors. Recently, an endoscopic approach has also been found to yield satisfactory results. An optimal approach should be selected after evaluating the advantages and disadvantages of these methods. No definite guidelines are available regarding the choice of elective neck dissection and postoperative radiation therapy for malignant accessory parotid gland tumors. Although tumor resection (plus elective neck dissection) and postoperative radiation therapy have been frequently performed for various kinds of malignant accessory parotid gland tumors to date, additional studies are needed regarding the criteria for selecting elective neck dissection and postoperative radiation therapy. Since the malignancy rate for accessory parotid gland tumors is higher than that for parotid gland tumors, the possibility of malignancy (especially mucoepidermoid carcinoma and carcinoma ex pleomorphic adenoma) should be considered when resecting accessory parotid gland tumors, even if the results of preoperative fine-needle aspiration cytology indicate that the tumor is benign. PMID:24558945

Iguchi, Hiroyoshi; Wada, Tadashi; Yamamoto, Hidefumi; Yamada, Kei; Matsushita, Naoki; Okamoto, Sachimi; Teranishi, Yuichi; Koda, Yuki; Kosugi, Yuki; Yamane, Hideo

2013-12-01

40

GENETIC ISOLATION WITHIN THE MALARIA MOSQUITO ANOPHELES MELAS  

PubMed Central

Anopheles melas is a brackish water-breeding member of the An. gambiae complex that is distributed along the coast of West Africa and is a major malaria vector within its range. Because little is known about the population structure of this species, we analyzed 15 microsatellite markers and 1,161 bp of mtDNA in 11 An. melas populations collected throughout its range. Compared to its sibling species An. gambiae, An. melas populations have a high level of genetic differentiation between them, representing its patchy distribution due to its fragmented larval habitat which is associated with mangroves and salt marsh grass. Populations clustered into three distinct groups representing Western Africa, Southern Africa, and Bioko Island populations that appear to be mostly isolated. Fixed differences in the mtDNA are present between all three clusters, and a Bayesian clustering analysis of the microsatellite data found no evidence for migration from mainland to Bioko Island populations, and little migration was evident between the Southern to the Western cluster. Surprisingly, mtDNA divergence between the three An. melas clusters is on par with levels of divergence between other species of the An. gambiae complex, and no support for monophyly was observed in a maximum likelihood phylogenetic analysis. Finally, an Approximate Bayesian Analysis of microsatellite data indicates that Bioko Island An. melas populations were connected to the mainland populations in the past, but became isolated, presumably when sea levels rose after the last glaciation period (?10,000-11,000 years ago). This study has exposed species level genetic divergence within An. melas, and also has implications for control of this malaria vector. PMID:22882458

Deitz, Kevin C; Athrey, Giri; Reddy, Michael R; Overgaard, Hans J; Matias, Abrahan; Jawara, Musa; della Torre, Alessandra; Petrarca, Vincenzo; Pinto, Joao; Kiszewski, Anthony; Kengne, Pierre; Costantini, Carlo; Caccone, Adalgisa; Slotman, Michel A

2014-01-01

41

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

42

Granular cell tumour of the bronchus: bronchoscopic and clinical features.  

PubMed Central

Granular cell tumours are uncommon, generally benign neoplasms of uncertain origin that occasionally affect the tracheobronchial tree. Their incidence seems to be increasing, despite the fact that such tumours are rarely suspected on clinical grounds or bronchoscopic appearance. Here we describe three cases of endobronchial granular cell tumours, one of which regressed spontaneously after biopsy, and review previous accounts of their bronchoscopic and clinical features. Images PMID:3590055

Hernandez, O G; Haponik, E F; Summer, W R

1986-01-01

43

Antioxidant responses and bioaccumulation in Ictalurus melas under mercury exposure  

Microsoft Academic Search

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 Hg2+ (35, 70, and 140?g\\/L) for 10 days. The chemical analyses showed higher mercury concentrations for all treatments in gills and kidneys followed by liver and

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

2003-01-01

44

The clinical features of late onset anorexia nervosa  

Microsoft Academic Search

This study examines clinical features of late onset anorexia nervosa. This involved the scrutiny of a large database of patients with anorexia nervosa comprising data gathered at standardized initial assessments over the period 1960-1990. Patients with a late onset were compared to other selected patient samples. The population comprised 12 patients with a first onset of anorexia nervosa at or

N. A. Joughin; A. H. Crisp; S. G. Gowers; A. V. Bhat

1991-01-01

45

Escherichia coli bacteraemia in Canberra: incidence and clinical features  

Microsoft Academic Search

Objective: To determine the population incidence and clinical features of Escherichia coli bacteraemia in Canberra, Australia. Design, setting and participants: Canberra (including the nearby local government areas of Queanbeyan and Yarrowlumla) has a geographically isolated population of about 366 000 people. Its six hospitals also provide tertiary medical services for the surrounding region. Confining our analysis (by residential postcodes) to

Karina J Kennedy; Jan L Roberts; Peter J Collignon

2008-01-01

46

Psychiatric Illness in Mentally Retarded Adolescents: Clinical Features.  

ERIC Educational Resources Information Center

Describes the clinical features of the most important psychiatric disorders in mentally retarded adolescents: mood disorders, psychotic disorders, severe behavioral disorders, personality disorders, anxiety disorders, and attention-deficit The impact of mental retardation on personality development is confirmed by the high psychopathological…

Masi, Gabriele

1998-01-01

47

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

48

Gangrenous stomatitis (cancrum oris): clinical features, etiologic factors, and complications.  

PubMed

Gangrenous stomatitis (cancrum oris) is a lesion involving the orofacial structures that is primarily seen in areas where the socioeconomic standards are low and there is poor hygiene. The general clinical features, associated etiologic factors, and ensuing complications in eight consecutive cases diagnosed between 1991 and 1995 are presented and discussed. PMID:10332380

Chindia, M L; Guthua, S W; Kimaro, S S; Moshy, J

1997-04-01

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

Psoriasis: epidemiology, clinical features, and quality of life  

PubMed Central

Psoriasis is a common chronic, recurrent, immune mediated disease of the skin and joints. It can have a significant negative impact on the physical, emotional, and, psychosocial wellbeing of affected patients. Psoriasis is found worldwide but the prevalence varies among different ethnic groups. It has a strong genetic component but environmental factors such as infections can play an important role in the presentation of disease. There are several clinical cutaneous manifestations of psoriasis but most commonly the disease presents as chronic, symmetrical, erythematous, scaling papules and plaques. The epidemiology, clinical features, and impact on quality of life of psoriasis are reviewed. PMID:15708928

Langley, R; Krueger, G; Griffiths, C

2005-01-01

51

Clinical and electrophysiological features in Chinese patients with Kennedy's disease.  

PubMed

Kennedy's disease is a X-linked neuromuscular disorder caused by an expanded trinucleotide repeat in the androgen receptor gene. To ascertain the clinical diagnosis of Kennedy's disease in a Chinese population, we used a rapid, accurate PCR-based sizing method for the CAG repeat allelotype. The clinical and electrophysiological features of affected patients are described. The CAG repeats ranged from 43 to 53 and were inversely correlated with the age of onset (r = -0.63; P < 0.005). PMID:15297006

Hui, A C F; Cheung, P T; Tang, A S Y; Fu, M; Wong, L; Kay, R

2004-09-01

52

Clinical features of body dysmorphic disorder in adolescents and adults  

PubMed Central

Body dysmorphic disorder (BDD) usually begins during adolescence, but its clinical features have received little investigation in this age group. Two hundred individuals with BDD (36 adolescents; 164 adults) completed interviewer-administered and self-report measures. Adolescents were preoccupied with numerous aspects of their appearance, most often their skin, hair, and stomach. Among the adolescents, 94.3% reported moderate, severe, or extreme distress due to BDD, 80.6% had a history of suicidal ideation, and 44.4% had attempted suicide. Adolescents experienced high rates and levels of impairment in school, work, and other aspects of psychosocial functioning. Adolescents and adults were comparable on most variables, although adolescents had significantly more delusional BDD beliefs and a higher lifetime rate of suicide attempts. Thus, adolescents with BDD have high levels of distress and rates of functional impairment, suicidal ideation, and suicide attempts. BDD’s clinical features in adolescents appear largely similar to those in adults. PMID:16499973

Phillips, Katharine A.; Didie, Elizabeth R.; Menard, William; Pagano, Maria E.; Fay, Christina; Weisberg, Risa B.

2006-01-01

53

[Gastric erosions: pathogenesis, clinical features, diagnosis, and treatment].  

PubMed

Recent data on etiology, pathogenesis, diagnosis, and treatment of gastric erosion are reviewed. Classification of acute and chronic erosions is proposed. The authors point out to the lack of documented scientific information related to the role and significance of erosions in gastroduodenal pathology. Special emphasis is laid on risk factors, diagnosis, prevention, and treatment of gastropathies with reference to their clinical features and diagnostic criteria. The main provisions of the Maastricht Treaty 3 (2005) concerning NSAID gastropathies are outlined. PMID:19048831

Svintsitski?, A S; Solov'eva, G A

2008-01-01

54

Clinical features of third ventriculostomy failures classified by fenestration patency  

Microsoft Academic Search

BACKGROUNDTo evaluate strategies for treating endoscopic third ventriculostomy (ETV) failure, we assessed patients, clinical features at failure, and the outcome of VP shunt placement at re-operation, classifying patients by fenestration patency.METHODSThirty-six patients with failed ETV were evaluated retrospectively. All but 4 had cine phase-contrast magnetic resonance (MR) images at re-operation to determine whether the fenestration was patent, and were grouped

Toru Fukuhara; Mark G Luciano; Robert J Kowalski

2002-01-01

55

Clinical features associated with ictal osmophobia in migraine.  

PubMed

Olfactory hypersensitivity may occur during migraine attacks and has been found to be very specific for this form of headache. Aim of this study was to investigate if migraineurs with ictal osmophobia have particular clinical features comparing to patients without ictal osmophobia. We recruited 200 consecutive migraineurs. Other primary headaches comorbidity and migraine prophylaxis were exclusion criteria. Each patient was interviewed following a structured questionnaire including general features about migraine, depression and anxiety symptoms. Migraine triggers both spontaneously and selecting from a specific list. Allodynia during the migraine attack was measured using the Allodynia symptoms check-list 12 (ASC-12). Eighty four (42 %) patients are non-osmophobic vs. 116 patients (58 %) who are osmophobic. After a logistic regression analysis, pain intensity (OR 1.391; p = 0.008) and anxiety (OR 1.099; p = 0.047) were significantly higher while aura (OR 0.421; p = 0.028) is less frequent in osmophobic migraineurs. We found significant differences in clinical features of osmophobic patients in respect to non-osmophobic ones. Ictal osmophobia seems being related to a broader sensorial hypersensitivity that could lead to a more florid clinical presentation. PMID:25070382

Baldacci, Filippo; Lucchesi, Cinzia; Ulivi, Martina; Cafalli, Martina; Vedovello, Marcella; Vergallo, Andrea; Prete, Eleonora Del; Nuti, Angelo; Bonuccelli, Ubaldo; Gori, Sara

2015-01-01

56

Clinical Features and Differential Diagnoses in Laryngeal Mucoepidermoid Carcinoma  

PubMed Central

Mucoepidermoid carcinoma is the most common malignant tumor of salivary glands. However, it is a rare entity in larynx. Laryngeal cases are frequently misdiagnosed with other malignancies and they are under-reported. So, recognizing the clinical and histological features of this tumor is essential. Laryngeal mucoepidermoid carcinoma can arise in supraglottis, glottis and subglottis. Generally, it presents as a submucosal mass; therefore, progressive symptoms without any identifiable lesion in laryngoscopy must be well considered. The prognosis is somehow dependent on the histological features. In high-grade tumors, recurrence is more common and radical surgery with radiotherapy is recommended. In this paper, we provide a thorough literature review on mucoepidermoid carcinoma in the larynx. The most important distinguishing features of mucoepidermoid carcinoma and its two major differential diagnoses (squamous cell carcinoma and adenosquamous carcinoma) are clearly stated and pitfalls in true diagnosis of this tumor are discussed. PMID:22262946

Mokhtari, Sepideh; Mokhtari, Saeedeh

2012-01-01

57

Endocrine Disorders in Two Sisters Affected by MELAS Syndrome  

Microsoft Academic Search

A variety of endocrine and metabolic defects, including hypothalamopituitary hypofunction and diabetes mellitus, has been reported in association with mitochondrial disorders. We describe two sisters affected by mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome in whom DNA analysis showed an A?G transition at the 3243rd nucleotide position on the transfer RNA Leu(UUR) gene with 65% and 45% of

Paolo Balestri; Salvatore Grosso

2000-01-01

58

Abdominal Wall Endometrioma: Ultrasonographic Features and Correlation with Clinical Findings  

PubMed Central

Background: The diagnosis of abdominal wall endometrioma (AWE) is often confused with other surgical conditions. Certain factors relating to knowledge of the clinical history of the disease make correct diagnosis and treatment difficult. Aims: To present the clinical findings and ultrasonographic (US) features of AWE with special emphasis on size-related features. Study Design: This study reviewed abdominal wall endometriomas during a 2-year period in the Radiology Department of Sifa University Hospital, Izmir. Methods: Eleven women (mean age 32.6 years) with 12 scar endometriomas (mean diameter 29.2 mm) were consecutively evaluated by US and Colour Doppler examination (CDUS) prior to surgery. Lesions were grouped into large (?3 cm) and small nodules. Vascularisation was classified as location (central, peripheral and mixed) and severity (absent, moderately vascular and hypervascular). In each patient, the nature of pain (absent, cyclic: associated with menstruation and continuous), historical and clinical data were documented. Four patients underwent Magnetic Resonance Imaging and their findings were presented. Fisher’s exact test, ?2 test for categorical data and the unpaired T-test for continuous variables were used for statistical analysis. Results: In all the women, US of the AWE showed the presence of a solid hypoechoic mass (less echogenic than the surrounding hyperechoic fat) within the abdominal wall. There was a significant correlation between AWE sizes with repeated caesareans and the mean time between the last operation and admission to hospital (p<0.05). Large endometriomas showed increased central vascularity (p<0.05). Cyclic pain was more frequent in small lesions, whereas continuous pain was more commonly found in patients with larger lesions (p<0.05). Conclusion: AWE is often misdiagnosed clinically because endometriosis may occur years after the caesarean section, the pain is often non-cyclic in nature, and there is not always a palpable tender mass. The sonographic and Doppler findings, along with proper correlation with clinical data, may substantially contribute to the correct diagnosis of endometrioma. PMID:25207093

Solak, Aynur; Genç, Berhan; Yalaz, Seyhan; ?ahin, Neslin; Sezer, Taylan Özgür; Solak, ?lhami

2013-01-01

59

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

60

Association of Clinical and Radiographic Features with Perinephric “Sticky” Fat  

PubMed Central

Abstract Background and Purpose The discovery of thick, adherent, perinephric sticky fat (PSF) is relatively common during open or laparoscopic retroperitoneal surgery. To our knowledge, however, there has been no previous analysis of clinical or radiographic features associated with the development of PSF or of perioperative outcomes for those patients in whom it is found. Our objective is to analyze potential predictive features and determine whether there is any effect on clinical or pathologic outcomes for patients with perinephric sticky fat. Patients and Methods Patients undergoing partial nephrectomy or laparoscopic cryoablation with available preoperative imaging were identified from 2005 to 2011. Operative records were reviewed to identify patients with and without PSF. Preoperative images and medical records were examined to obtain patient data regarding potential predictors as well as clinical and pathologic outcomes. Results A total of 29 patients were identified—16 with PSF and 13 controls. Statistically significant factors associated with PSF included sex, tumor size, presence of perinephric stranding, tumor >50% exophytic, and thickness of perinephric fat (P<0.05). Median total operative time for patients with sticky fat was nearly 40 minutes longer than the control group (228?min vs 190?min, P<0.05). All four (17%) patients with Fuhrman grade 3 or 4 renal-cell carcinoma were from the sticky fat group (P=0.09). Conclusions Despite the small sample size, multiple possible factors associated with perinephric sticky fat were identified and may provide guidance for future investigation of this phenomenon. PMID:22966767

Qiong, Han; Crispen, Paul L.; Venkatesh, Ramakrishna; Strup, Stephen E.

2013-01-01

61

Human Streptococcus suis Endocarditis: Echocardiographic Features and Clinical Outcome  

PubMed Central

Background: Human Streptococcus suis endocarditis occurs infrequently and continues to be a serious illness with high mortality. However, knowledge of the echocardiographic features and clinical outcome of this disease remains unclear. Methods: One hundred and fourteen patients were identified in a prospective study, and hospitalized at Queen Sirikit Heart Center and Srinagarind Hospital, Khon Kaen University. Echocardiography was routinely performed in all patients. Results: Between January 2010 and December 2011, three cases of S. suis endocarditis were diagnosed. All cases were male and aged 27–53 years. The most common risk factor for contracting S. suis infection was eating undercooked pork. Three patients presented with congestive heart failure. Transthoracic echocardiography demonstrated large, highly mobile vegetations and severe valvular damage. Aortic valve involvement was documented in two patients, and mitral valve involvement in one. One patient presented with embolic stroke and one with arterial occlusion. All patients underwent urgent valve replacement with a good clinical outcome. Conclusion: The echocardiographic features of S. suis endocarditis show destructive, extensive valvular damage and early embolization with a fulminant course, needing early surgical intervention with a good clinical outcome. PMID:22872789

Pachirat, Orathai; Taksinachanekit, Suthep; Mootsikapun, Piroon; Kerdsin, Anusak

2012-01-01

62

Pituitary apoplexy: an update on clinical and imaging features.  

PubMed

Pituitary apoplexy (PA) is a rare and potentially fatal clinical condition presenting acute headache, vomiting, visual impairment, ophthalmoplegia, altered mental state and possible panhypopituitarism. It mostly occurs in patients with haemorrhagic infarction of the pituitary gland due to a pre-existing macroadenoma. Although there are pathological and physiological conditions that may share similar imaging characteristics, both clinical and imaging features can guide the radiologist towards the correct diagnosis, especially using magnetic resonance imaging (MRI). In this review, we will describe the main clinical and epidemiological features of PA, illustrating CT and MRI findings and discussing the role of imaging in the differential diagnosis, prognosis and follow-up. Teaching points • Headache, ophtalmoplegia and visual impairment are frequent symptoms of pituitary apoplexy. • CT is often the first imaging tool in PA, showing areas of hyperdensity within the sellar region. • MRI could confirm haemorrhage within the pituitary gland and compression on the optic chiasm. • Frequent simulating conditions are aneurysms, Rathke cleft cysts, craniopharingioma and mucocele. • The role of imaging is still debated and needs more studies. PMID:25315035

Boellis, Alessandro; di Napoli, Alberto; Romano, Andrea; Bozzao, Alessandro

2014-12-01

63

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

64

Clinical features of early myocardial rupture of acute myocardial infarction.  

PubMed

We assessed the clinical features of patients with myocardial rupture within 48 to 72 hours, defined as early myocardial rupture, after percutaneous coronary intervention (PCI) for ST-segment elevation acute myocardial infarction (STEMI). Six patients (4 men, 66 ± 13 years) with early myocardial rupture were identified from 1252 consecutive patients undergoing PCI for STEMI. We evaluated the degree of microvascular reperfusion using thrombolysis in myocardial infarction (TIMI) myocardial perfusion (TMP) grade and a resolution of sum of ST-segment elevation in a 12-lead electrocardiogram (ECG). Time from PCI to myocardial rupture was 11 ± 7 hours. All patients showed TMP grade 0 or 1 and an increase in sum of ST-segment elevation after PCI (1.9 ± 0.5 vs 2.5 ± 0.7 mV; P = .032), suggesting severely failed reperfusion at the level of microcirculation as the common feature to develop early myocardial rupture after PCI for STEMI. PMID:22007028

Suzuki, Makoto; Enomoto, Daijiro; Seike, Fumiyasu; Fujita, Shimpei; Honda, Kazuo

2012-08-01

65

Natural history and clinical features of progressive supranuclear palsy: a clinical study.  

PubMed

Progressive supranuclear palsy (PSP or Steele-Richardson-Olszewski syndrome) is one of the most-common types of atypical parkinsonism. To characterize the natural history and the clinical features of PSP, we reviewed the records of 25 patients followed in our clinic since 1991, with a clinical diagnosis of PSP according to NINDS and Golbe criteria. Progressive onset of early bilateral bradykinesia and postural instability with falls during the 5th decade strongly support the diagnosis of PSP in our patients. Pseudobulbar symptoms are very common at onset and during the course of the illness. PMID:14598074

Diroma, C; Dell'Aquila, C; Fraddosio, A; Lamberti, S; Mastronardi, R; Russo, I; De Mari, M; Iliceto, G

2003-10-01

66

Livedoid vasculopathy: clinical features and treatment in 24 Chinese patients.  

PubMed

Livedo vasculopathy (LV) is a chronic cutaneous disorder characterised by recurrent, painful ulceration ending in stellate scars. We have conducted a retrospective study of clinical features and treatment response of LV in 24 Chinese patients. LV occurred more frequently in women (male:female ratio??1:3). The peak age at onset of disease ranged from 14 to 20 years, younger than previously published data. 87.5% of the patients (21/24) showed significant summer exacerbation with ulcer formation. Out of 24 patients tested, 14 (58.3%) had positive antiphospholipid antibodies. Ten out of 14 patients (71.4%) were tested to be hypersensitive to multivalent insect antigens. Combinative anti-inflammatory therapy with steroids, tetracycline and Tripterygium glycosides plus antiplatelet/profibrinolytic drugs promoted quick healing of ulcer and reduce recurrence. The younger age of disease presentation and significant summer exacerbation are 2 novel clinical features observed in this study. These findings suggest that apart from procoagulation other risk factors may contribute significantly to the pathogenesis of LV. Although antiplatelet/profibrinolytic drugs are deemed as a first line therapy for LV, anti-inflammatory medications such as steroids, tetracycline and Tripterygium glycosides, from our experiences, are indispensable, especially for acute, ulcerative stage of disease. PMID:24352295

Feng, Suiying; Su, Wei; Jin, Peiying; Shao, Changgeng

2014-09-01

67

Clinical features of gastrointestinal salmonellosis in children in Bangkok, Thailand.  

PubMed

This retrospective descriptive study was conducted at Queen Sirikit National Institute of Child Health (QSNICH), Bangkok, Thailand to describe the clinical features of gastrointestinal salmonellosis in children. The medical records of 134 patients admitted to QSNICH in 2009 who had a positive stool culture for Salmonella spp were reviewed. Demographic, clinical, laboratory, treatment, culture and antimicrobial sensitivity data were collected and analyzed. The mean age of the patients was 22.9 months (range 0.5 to 158 months); 76.9% were < 2 years old. The male to female ratio was 1.5:1. Salmonella B was most commonly found serogroup (47%). The common clinical manifestations included diarrhea (99.3%), fever (93.3%), dehydration (64.9%) and nausea/vomiting (48.5%). Most of the Salmonella isolates were sensitive to a fluoroquinolone and many were sensitive to Cotrimoxazole, but few were sensitive to ampicillin. There were no significant differences in the clinical manifestations and drug sensitivities of the different Salmonella serogroups, except convulsions were more common in Salmonella E infected patients (p = 0.04) and more Salmonella C isolates were sensitive to ampicillin (p = 0.04). There was no significant correlation between clinical course and antimicrobial treatment, except the duration of diarrhea was significantly longer in patients who received antimicrobial treatment (mean 6.1, SD 4.7 days vs mean 4.2, SD 2.1 days) (p = 0.03). Three patients had Salmonella bacteremia. Three patients died but not directly due to Salmonella infection. PMID:22299472

Vithayasai, Niyada; Rampengan, Novie Homenta; Hattasingh, Weerawan; Jennuvat, Siriluck; Sirivichayakul, Chukiat

2011-07-01

68

Clinical features and etiology of retinal vasculitis in Northern Thailand  

PubMed Central

Purpose: To report on the clinical features and etiology of patients with retinal vasculitis (RV). Materials and Methods: We reviewed medical records of 47 patients (75 affected eyes) diagnosed with RV. Clinical presentations, ocular complications, associated systemic diseases, and treatment regimens were registered. Results: Etiology of RV included infectious causes in 10/47, (21%) while an association with systemic and/or ocular non-infectious disorders was noted in 22/47 (47%). Eales’ disease and Behcet's disease represented the most common clinical entities in non-infectious group while tuberculosis-associated RV was diagnosed in 6/10 (60%) among those with infectious disorders. RV was bilateral in 28/47 (60%) patients. Retinal veins were most commonly affected (72%, 34/47). Involvement of arteries was present in 12/47 (25%) and was associated with viral infections and Behcet's disease. Ocular complications developed in 60/75 (80%) eyes. The most common complications were elevated intraocular pressure and/or glaucoma (33/75, 44%). Retinal detachment, vitreous hemorrhage, and cystoid macular edema developed in similar percentages (15%). Conclusions: RV in Thailand manifested mostly in male patients, was typically bilateral and involved mostly veins. Involvement of arteries was observed in patients with viral infections and Behcet's disease. Tuberculosis was the most common infectious cause. PMID:24178403

Apinyawasisuk, Supanut; Rothova, Aniki; Kunavisarut, Paradee; Pathanapitoon, Kessara

2013-01-01

69

Clinical features of acute corpus callosum infarction patients  

PubMed Central

The clinical manifestation of acute corpus callosum (CC) infarction is lack of specificity and complex, so it is easily missed diagnosis and misdiagnosis in the early stage. The present study aims to describe the clinical features of the acute CC infarction. In this study, 25 patients with corpus callosum infarction confirmed by the brain MRI/DWI and the risk factors were summarized. Patients were classified into genu infarction (3 cases), body infarction (4cases), body and genu infarction (4 cases), body and splenium infarction (1 case), splenium infarction (13 cases) according to lesion location. Clinical manifestation and prognosis were analyzed among groups. The results indicated that CC infarction in patients with high-risk group accounted for 72%, moderate-risk group accounted for 20%, low-risk group (8%). The main risk factors are carotid intimal thickening or plaque formation, hypertension, hyperlipidemia, cerebral artery stenosis, and so on. The CC infarction often merged with other parts infarction, and splenium infarction had the highest incidence, the clinical symptoms in the body infarction which can appear typical signs and symptoms, but in other parts infarction which always merged many nerve defect symptoms. The body infarction prognosis is poor; the rest parts of infarction are more favorable prognosis. In conclusion, CC infarction has the highest incidence in the stroke of high-risk group; neck color Doppler and TCD examination can be found as early as possible to explore the pathogenic factors. Prognosis is usually much better by treatment according to the location and risk factors. PMID:25197390

Yang, Li-Li; Huang, Yi-Ning; Cui, Zhi-Tang

2014-01-01

70

Nipah encephalitis outbreak in Malaysia, clinical features in patients from Nipah encephalitis outbreak in Malaysia, clinical features in patients from Nipah encephalitis outbreak in Malaysia, clinical features in patients from Nipah encephalitis outbreak in Malaysia, clinical features in patients from Nipah encephalitis outbreak in Malaysia, clinical features in patients from Seremban Seremban Seremban Seremban Seremban  

Microsoft Academic Search

Background: An outbreak of viral encephalitis occurred among pig industry workers in Malaysia in September 98 to April 1999. The encephalitis was attributed to a new paramyxovirus, Nipah virus. This is a description of the clinical features of 103 patients treated in the Seremban Hospital with characterization of the prognostic factors. Methods: Clinical case records and laboratory investigations were reviewed.

Heng Thay CHONG; Sree Raman KUNJAPAN; Tarmizi THAYAPARAN; Vijayasingham PETHARUNAM; Mohd Rani JUSOH; Chong Tin TAN

2000-01-01

71

Idiopathic photosensitive occipital epilepsy: clinical and electroencephalographic (EEG) features.  

PubMed

Idiopathic photosensitive occipital lobe epilepsy is a reflex, age- and localization-related syndrome. We describe the clinical and electroencephalographic features, therapy, and outcome of 16 children/adolescents with this syndrome. The cohort included 2 sets of siblings and 7 patients with other first- or second-degree relatives with a seizure history. All patients had occipital onset seizures and 15 had secondarily generalized tonic-clonic seizures. Seizure frequency was relatively low in all patients but one. Myoclonic seizures later developed in 2 patients with juvenile myoclonic epilepsy. Eight patients achieved full seizure control with monotherapy, and 5 required a second drug; 3 patients had rare seizures and were not treated with antiepileptics. Seven patients required special education or developmental assistance. This interesting syndrome sheds light on the pathophysiology and genetic etiology of common phenomena such as photosensitivity and headache. Further large prospective studies are required to better define this unique syndrome and its implications. PMID:23334080

Politi-Elishkevich, Keren; Kivity, Sara; Shuper, Avinoam; Levine, Hagit; Goldberg-Stern, Hadassa

2014-03-01

72

Benign positional vertigo: clinical and oculographic features in 240 cases.  

PubMed

We report the clinical and oculographic features in 240 patients with benign positional vertigo (BPV). In each case, after a rapid position change from the sitting to head-hanging position, a stereotyped torsional paroxysmal positional nystagmus was visually observed and recorded with electronystagmography (ENG). The mean age of onset was 54 years, with a range of 11 to 84 years. In slightly more than one-half of the cases (122/240) a likely diagnosis was determined. The most common identifiable causes were head trauma (17%) and viral neurolabyrinthitis (15%). Females outnumbered males approximately two to one in the idiopathic group. Abnormalities on bithermal caloric testing were found in 47% of patients. Only two patients, both with well-documented neurologic disorders, had central signs on ENG. Our data are consistent with a peripheral, posterior semicircular canal origin of BPV. PMID:3822129

Baloh, R W; Honrubia, V; Jacobson, K

1987-03-01

73

Clinical and laboratory features of temporary brittle bone disease.  

PubMed

Temporary brittle bone disease has been described since 1990. It is a syndrome characterised by multiple unexplained fractures in early childhood. There is growing evidence that it has natural causes and does not represent inflicted trauma. We report the clinical and laboratory features of 104 patients investigated personally between 1985 and 2000. These patients had in aggregate 976 fractures or fracture-like lesions. Our patients included disproportionate numbers of infants born preterm or as a result of multiple pregnancy. The fractures were mainly identified in the first 6 months of life and entirely within the first year of life. Most fractures were asymptomatic, particularly the many rib fractures and metaphyseal lesions. Few patients had evidence of bruising at presentation; none had clinical evidence of inflicted injury commensurate with the fractures found. In 22 patients the fractures were found in the course of investigation for unrelated symptoms. In several cases fractures took place while the children were in hospital. Unexplained bruising and sub-conjunctival haemorrhages also occurred in hospital, suggesting collagen defects. Hernias were recorded; in most these resolved spontaneously, again suggesting transient collagen defects. Among the unexplained symptoms of the patients was a history of vomiting, often projectile vomiting. Some patients had unusually blue or grey sclerae for the child's age. Many patients had abnormally large anterior fontanelles. Laboratory findings included anaemia, neutropenia and an exceptionally high serum alkaline phosphatase. Our findings reinforce the view that children with temporary brittle bone disease have a distinctive and identifiable syndrome which probably includes osteopathy of prematurity. These patients do not have osteogenesis imperfecta and are not the victims of non-accidental injury. While the causes of this syndrome remain uncertain, its distinctive features should now be more readily recognised. PMID:23950568

Paterson, Colin R; Monk, Elizabeth A

2014-01-01

74

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

E-print Network

7/08 Clinical Features: Features of patients with SLC9A6 mutations include mental retardation identified in patients with X-linked mental retardation with features similar to Angelman syndrome [2]. SLC9A will be reported by telephone. References: 1. Christianson A, et al. "X-linked severe mental retardation

Das, Soma

75

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

76

Pancreatic neuroendocrine tumors: clinical features, diagnosis and medical treatment: advances  

PubMed Central

Pancreatic neuroendocrine tumors (pNETs) comprise with gastrointestinal carcinoids, the main groups of gastrointestinal neuroendocrine tumors (GI-NETs). Although these two groups of GI-NETs share many features including histological aspects; over-/ectopic expression of somatostatin receptors; the ability to ectopically secrete hormones/peptides/amines which can result in distinct functional syndromes; similar approaches used for tumor localization and some aspects of treatment, it is now generally agreed they should be considered separate. They differ in their pathogenesis, hormonal syndromes produced, many aspects of biological behavior and most important, in their response to certain anti-tumor treatment (chemotherapy, molecular targeted therapies). In this chapter the clinical features of the different types of pNETs will be considered as well as aspects of their diagnosis and medical treatment of the hormone-excess state. Emphasis will be on controversial areas or recent advances. The other aspects of the management of these tumors (surgery, treatment of advanced disease, tumor localization) are not dealt with here, because they are covered in other chapters in this volume. PMID:23582916

Ito, Tetsuhide; Igarashi, Hisato; Jensen, Robert T.

2013-01-01

77

Clinical Features in Patients with Long-Lasting Macrophagic Myofasciitis  

PubMed Central

Macrophagic myofasciitis (MMF) is an emerging condition characterized by specific muscle lesions assessing abnormal long-term persistence of aluminum hydroxide within macrophages at the site of previous immunization. Affected patients usually are middle-aged adults, mainly presenting with diffuse arthromyalgias, chronic fatigue, and marked cognitive deficits, not related to pain, fatigue, or depression. Clinical features usually correspond to that observed in chronic fatigue syndrome/myalgic encephalomyelitis. Representative features of MMF-associated cognitive dysfunction include dysexecutive syndrome, visual memory impairment, and left ear extinction at dichotic listening test. Most patients fulfill criteria for non-amnestic/dysexecutive mild cognitive impairment, even if some cognitive deficits appear unusually severe. Cognitive dysfunction seems stable over time despite marked fluctuations. Evoked potentials may show abnormalities in keeping with central nervous system involvement, with a neurophysiological pattern suggestive of demyelination. Brain perfusion SPECT shows a pattern of diffuse cortical and subcortical abnormalities, with hypoperfusions correlating with cognitive deficiencies. The combination of musculoskeletal pain, chronic fatigue, and cognitive disturbance generates chronic disability with possible social exclusion. Classical therapeutic approaches are usually unsatisfactory making patient care difficult. PMID:25506338

Rigolet, Muriel; Aouizerate, Jessie; Couette, Maryline; Ragunathan-Thangarajah, Nilusha; Aoun-Sebaiti, Mehdi; Gherardi, Romain Kroum; Cadusseau, Josette; Authier, François Jérôme

2014-01-01

78

Clinical and genetic features of ataxia-telangiectasia.  

PubMed

There are several variants of ataxia-telangiectasia (A-T): classical A-T with marked radiation sensitivity; classical A-T with intermediate levels of radiation sensitivity; mild A-T with intermediate levels of radiation sensitivity; A-T without telangiectasia; A-T without oculomotor apraxia; and A-T with microcephaly. These disorders are probably caused by different allelic mutations, because affected sibs resemble the index patients, and because there is an association of certain haplotypes of 11q22-23 with specific phenotypes. The Nijmegen Breakage Syndrome, with its lack of ataxia, seems on clinical grounds to be a different disorder. Although A-T is almost always inherited as an autosomal recessive, there are some unusual features; an unexpectedly low parental consanguinity rate, an incidence in sibs that is < 0.25, and occurrence of disease in many different races and in the offspring of mixed race unions. Moreover, looking at haplotypes from 63 UK patients, there is a remarkably low incidence of homozygosity. An autosomal recessive condition that is deficient in parental consanguinity, and in homozygosity for the region around the gene, can be explained by J. H. Edwards' hypothesis that homozygosity for alleles at a neighbouring locus are lethal early in embryogenesis. Other possible mechanisms to explain the unusual genetic features are discussed. PMID:7836849

Bundey, S

1994-12-01

79

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

80

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

81

Clinical features and prognostic factors of Churg-Strauss syndrome  

PubMed Central

Background/Aims Churg-Strauss syndrome (CSS) is a rare systemic necrotizing small-vessel vasculitis, with accompanying bronchial asthma, eosinophilia, and eosinophilic infiltration of various tissues. The purposes of our study were to characterize the clinical features of CSS and to identify factors associated with CSS prognosis in Koreans. Methods Medical records were reviewed retrospectively for all physician-diagnosed CSS patients in the Seoul National University Hospital between January 1990 and March 2011. Results Data from 52 CSS patients were analyzed. The respiratory tract was the most commonly involved organ (90.4%). Renal involvement was less frequent in antineutrophilic cytoplasmic antibody (ANCA)(-) patients than in ANCA(+) patients (p = 0.048). Clinical remission occurred in 95.3% of patients, but 16.3% of them relapsed. Patients who maintained remission for more than 6 months were relatively older (median, 51 years) at diagnosis (p = 0.004), had been diagnosed in earlier stages (p = 0.027), showed more frequent respiratory involvement (p = 0.024) and generalized symptoms (p = 0.039), and showed less frequent cutaneous involvement (p = 0.030) than those who did not achieve persistent (> 6 months) remission. Patients who achieved persistent remission also showed higher C-reactive protein (CRP) levels (p = 0.031) than those who did not. Conclusions ANCA(-) CSS patients showed less frequent renal involvement. Characteristics of good responders were older age, diagnosis at earlier stages, less cutaneous involvement, more respiratory involvement, high CRP values, and more generalized symptoms. PMID:24574837

Kim, Mi-Yeong; Sohn, Kyoung-Hee; Song, Woo-Jung; Park, Heung-Woo; Cho, Sang-Heon; Min, Kyung-Up

2014-01-01

82

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

83

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

84

[Primary epiploic appendagitis: clinical features in 73 cases].  

PubMed

Primary epiploic appendagitis is a relatively rare disease in the differential diagnosis of acute abdomen, nonetheless it is an entity that should not be ignored by physicians and surgeons in order to prevent unnecessary interventions and overuse of antibiotics. To substantiate this concept a search was conducted at the Hospital Aleman, Buenos Aires between April 2007 and July 2013. The aim was clinical histories containing sonographic and tomographic images with diagnosis of omental appendagitis; and subsequently their electronic medical records were reviewed. The clinical features and outcome of a case series of 73 primary omental appendagitis were selected; the mean age was 45 years (± 16); 54 (74%) were men. Abdominal pain (left lower quadrant in 89% of cases) was the most common symptom. Abdominal ultrasound was performed on 44 (60%) of patients, computed tomography on 21 (29%), and both studies on 8 (11%) of cases in this series. In 49% of cases surgery consultation was requested. Fifteen patients (21%) were treated with antibiotics, 73% of them were prescribed by a clinician. Sixty seven patients (92%) were treated as outpatients with non steroidal anti-inflammatory drugs (NSAIDs); two required laparoscopic surgery, two required hospitalization and two others were treated with opioids. Epiploic apendagitis is uncommon in the differential diagnosis of acute abdomen, but is an entity that should not be ignored by physicians to prevent unnecessary interventions and overuse of antibiotics. PMID:25555004

Vázquez, Graciela M; Manzotti, Matías E; Alessandrini, Graciana; Lemos, Sofía; Perret, María Clara; Catalano, Hugo N

2014-01-01

85

[Clinical, neuropsychological and neuroimaging features of patients with mixed dementia.  

PubMed

Objective. Mixed dementia (MD), characterized by a combination of Alzheimer's disease (AD) and cerebrovascular disease, is one of the most common and, at the same time, poorly diagnosed forms of dementia in the elderly. The aim of our study was to investigate features of AD with its combination with cerebrovascular disease on the basis of clinical, neuropsychological and neuroimaging data. Material and methods. Authors examined 79 patients with dementia: 30 patients with AD, 33 patients with MD and 16 patients with vascular dementia. Patients with MD were older, had more often frontal gait disorders (48.5%), postural instability (45%), pseudobulbar syndrome (60%). Results and conclusion. The neuropsychological profile of patients with MD had mixed amnestic-dysexecutive character and, depending on the severity of vascular pathology, in some cases was closer to AD and in others to vascular dementia. A negative effect of vascular risk factors on medial temporal atrophy was found. Neuroimaging changes in MD were correlated with clinical manifestations. Proposed approaches to the diagnosis of MD help to determine more precisely the main directions of the treatment of patients and predict the course of the disease. PMID:25042500

Trusova, N A; Levin, O S; Arablinski?, A V; Makotrova, T A; Vasenina, E E

2014-01-01

86

Clinical features of schizophrenia with enhanced carbonyl stress.  

PubMed

Accumulating evidence suggests that advanced glycation end products, generated as a consequence of facilitated carbonyl stress, are implicated in the development of a variety of diseases. These diseases include neurodegenerative illnesses, such as Alzheimer disease. Pyridoxamine is one of the 3 forms of vitamin B6, and it acts by combating carbonyl stress and inhibiting the formation of AGEs. Depletion of pyridoxamine due to enhanced carbonyl stress eventually leads to a decrease in the other forms of vitamin B6, namely pyridoxal and pyridoxine. We previously reported that higher levels of plasma pentosidine, a well-known biomarker for advanced glycation end products, and decreased serum pyridoxal levels were found in a subpopulation of schizophrenic patients. However, there is as yet no clinical characterization of this subset of schizophrenia. In this study, we found that these patients shared many clinical features with treatment-resistant schizophrenia. These include a higher proportion of inpatients, low educational status, longer durations of hospitalization, and higher doses of antipsychotic medication, compared with patients without carbonyl stress. Interestingly, psychopathological symptoms showed a tendency towards negative association with serum vitamin B6 levels. Our results support the idea that treatment regimes reducing carbonyl stress, such as supplementation of pyridoxamine, could provide novel therapeutic benefits for this subgroup of patients. PMID:24062594

Miyashita, Mitsuhiro; Arai, Makoto; Kobori, Akiko; Ichikawa, Tomoe; Toriumi, Kazuya; Niizato, Kazuhiro; Oshima, Kenichi; Okazaki, Yuji; Yoshikawa, Takeo; Amano, Naoji; Miyata, Toshio; Itokawa, Masanari

2014-09-01

87

Clinical and Histopathologic Features of Fluoroquinolone-Induced Liver Injury  

PubMed Central

Background & Aims Fluoroquinolone-induced liver injury is rare; no prospective studies of well-characterized case series have been published. We studied patients with fluoroquinolone-induced hepatoxicity, using data from the Drug-Induced Liver Injury Network (DILIN) to characterize injury patterns, outcomes, and associated features. Methods We identified subjects with fluoroquinolone hepatotoxicity who enrolled in the DILIN from September 2004 to January 2010. Demographic, clinical, and laboratory data were analyzed by descriptive statistical methods. Results Of the 679 registrants in the DILIN prospective study, 12 had hepatoxicity from fluoroquinolones (6 ciprofloxacin, 4 moxifloxacin, 1 levofloxacin, and 1 gatifloxacin). Seven were women; the median age was 57 years (range 23–80 years), and the median time from the start of fluoroquinolone therapy to symptoms was only 4 days (range 1–39 days). Nine cases developed symptoms on medication (2, 8, and 32 days after they stopped the medication, 3 patients each). Cases were equally distributed among hepatocellular injury (predominantly increased levels of alanine aminotransferase), cholestatic injury (predominantly increased levels of alkaline phosphatase [AP]), and both. Seven cases had immunoallergic features. Patients with mixed hepatocellular and cholestatic injury had mild disease without jaundice—all recovered. In contrast, 2 of 4 patients with hepatocellular injury and jaundice died, 1 of acute liver failure. One patient with cholestatic injury developed vanishing bile duct syndrome and required liver transplantation; another had a persistently increased serum level of AP. Conclusions Fluoroquinolone liver injury is rapid in onset and often has immunoallergic features, indicating a hypersensitivity reaction. The pattern of injury is can be hepatocellular, cholestatic, or mixed—mixed cases are the least severe. Acute and chronic liver failure can occur. PMID:21356330

Orman, Eric S.; Conjeevaram, Hari S.; Vuppalanchi, Raj; Freston, James W.; Rochon, James; Kleiner, David E.; Hayashi, Paul H.

2011-01-01

88

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

89

Clinical Features and Outcomes of Treatment for Fourth Nerve Palsy  

PubMed Central

Purpose To evaluate the clinical features, etiology and outcomes of treatment for superior oblique (SO) palsy over a 10-year period at Labbafinejad Medical Center. Methods A complete ophthalmologic examination with particular attention to forced duction test (FDT) and tendon laxity was performed in all patients preoperatively. The palsy was divided into congenital and acquired types. Results Overall, 73 patients including 45 male (61.6%) and 28 female (38.4%) subjects with mean age of 19.7±11.7 (range, 1.5–62) years, were operated from 1997 to 2007. SO palsy was congenital in 56 (76%) and acquired in 17 (24%) cases. The most common chief complaint was ocular deviation (52.1%). FDT was positive in only 7 (9.7%) cases. Other clinical findings included amblyopia (19.2%), head tilt (13.7%), chin down position (4.1%), facial asymmetry (6.8%) and tendon laxity (2.7%). Mean preoperative vertical deviation was 16.1 prism diopters (PD) which was decreased to 1.9 PD postoperatively. Mean exotropia and esotropia were 15 and 13.9 PD respectively before the operation and both decreased to 1.5 PD of horizontal deviation postoperatively. The most common type of SO palsy based on Knapp’s classification was type 3 (42.5%). The most common operated muscle was the inferior oblique (83.6%) and the most common type of operation was inferior oblique myectomy (83.6%). The success rate for initial surgery was 84% and was increased to 96% with a second intervention. Conclusion The most common form of SO palsy requiring surgical intervention was congenital which occurred most frequently in young males. Most cases of SO palsy can be successfully treated with a single surgical procedure. PMID:22737323

Bagheri, Abbas; Fallahi, Mohammad-Reza; Abrishami, Mohammad; Salour, Hossein; Aletaha, Maryam

2010-01-01

90

[Clinical and biological features of 8 patients with Richter's syndrome].  

PubMed

In order to evaluate the clinical, biological features and prognostic factors of Richter's syndrome (RS), 8 RS patients were analyzed retrospectively. The serological test, multiplex parameter flow cytometry, conventional cytogenetic analysis, FISH technique and PCR combined with sequence detection were used to detect the LDH, ?(2)-MG, TK1, SF, CA125, ZAP-70, chromosome karyotype, ATM and p53 gene deletion, as well as +12 abnormality and IgVH mutation. The results indicated that 7 out of 8 patients transformed to diffuse large B cell lymphoma (DLBCL) and 1 patient transformed to Hodgkin lymphoma (HL). Among 8 patients, LDH level in 7 patients, ?(2)-MG level in 4 patients, SF level in 7 patients, CA-125 level in 4 patients and TK1 level in 1 patient exceeded the normal range. Meanwhile, ZAP-70 and CD38 were expressed positively in 4 and 7 out of 8 patients respectively. Unmutated IgVH was found in 5 patients, and 4 patients had the complex chromosome abnormalities. +12 and p53 deletion was found in 1 patient. 8 patients were divided into two groups (Binet A + B and Binet C), the mean time from diagnosis to progression was 98.5 months in Binet A + B group, compared with 38.3 months in Binet C group, there was significant difference between two groups (p = 0.021). Mean overall survival was 123.8 months and 49.8 months in two groups, respectively (p = 0.049). The mean survival after transformation was 34.5 months in Binet A + B group and 10.3 months in Binet C group. In conclusion, the level of LDH, ?(2)-MG and SF are higher in RS patients in Binet C group, and so are the incidence of high expressed ZAP-70 and CD 38, unmutated IgVH. The clinical stage may be the risk and prognostic factors for RS transformation. PMID:21176359

Zhu, Hua-Yuan; Xu, Wei; Miao, Kou-Rong; Hong, Ming; Fang, Cheng; Zhu, Dan-Xia; Wu, Yu-Jie; Qiao, Chun; Li, Jian-Yong

2010-12-01

91

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

92

Malignant transformation in monostotic fibrous dysplasia: clinical features, imaging features, outcomes in 10 patients, and review.  

PubMed

Malignant transformation in fibrous dysplasia (FD) is uncommon. The purpose of this study was to investigate clinical and imaging features, and outcomes of malignant transformation in monostotic FD.Data for 10 pathologically confirmed malignant transformations in monostotic FD from January 2005 to December 2013 were retrospectively reviewed. Patient data were recorded, and radiographs (n?=?10), computed tomography (CT) (n?=?5), magnetic resonance (MR) (n?=?4), and bone scintigrams (n?=?10) were evaluated for lesion location, margin, cortical destruction, marrow involvement, periosteal reaction, and soft tissue mass by 2 musculoskeletal radiologists with agreement by consensus. Clinical features, management, and prognosis were also analyzed for each of the 10 cases.There were 8 male and 2 female patients (mean age 46.5?±?15.9 years). The affected sites were the femur (n?=?4), humerus (n?=?2), tibia (n?=?3), and ilium (n?=?1). Five cases had received previous surgery and 5 cases had no history of surgery. No patients had been given prior irradiation treatment. For the 5 cases with surgery, radiographs and CT showed purely osteolytic lesions with poor margination in the curettage area (n?=?5), cortical destruction (n?=?5), obvious soft tissue mass (n?=?1), and mineralization (n?=?2). For the 5 cases without surgery, radiographs and CT identified poorly marginated, osteolytic lesions within or near the area with "ground-glass" opacity (n?=?4), cortical erosion (n?=?4), and mineralization (n?=?2). Magnetic resonance imaging (MRI) also identified lesions with heterogeneous signal intensity and pronounced enhancement. Bone scintigraphy revealed eccentric increased uptake of radionuclide in monostotic lesion (n?=?10). Pathology reports revealed osteosarcoma (n?=?7), fibrosarcoma (n?=?2), and malignant fibrous histiocytoma (MFH) (n?=?1). At the end of the study, 1 patient died from tumors, 1 patient was alive with lung metastasis, 1 patient experienced recurrence, and 7 patients were alive without recurrence.Patients with FD and a history of surgery should be followed up, for the osteolytic lesions in the operative areas strongly indicate the malignant transformation. The radiographic feature of FD-related malignancies is poorly marginated, mineralized, and osteolytic lesions with cortical destruction. Further investigations are needed to explore the pathogenesis of malignancies in FD and to establish optimal therapeutic strategies. PMID:25621678

Qu, Nan; Yao, Weiwu; Cui, Xiaojiang; Zhang, Huizhen

2015-01-01

93

Pancreatic involvement in fatal human leptospirosis: clinical and histopathological features.  

PubMed

Hyperamylasemia has been reported in more than 65% of patients with severe leptospirosis, and the true diagnosis of acute pancreatitis is complicated by the fact that renal failure can increase serum amylase levels. Based on these data we retrospectively analyzed the clinical and histopathological features of pancreas involvement in 13 cases of fatal human leptospirosis. The most common signs and symptoms presented at admission were fever, chills, vomiting, myalgia, dehydratation, abdominal pain and diarrhea. Trombocytopenia was evident in 11 patients. Mild increased of AST and ALT levels was seen in 9 patients. Hyperamylasemia was recorded in every patient in whom it was measured, with values above 180 IU/L (3 cases). All patients presented acute renal failure and five have been submitted to dialytic treatment. The main cause of death was acute respiratory failure due to pulmonary hemorrhage. Pancreas fragments were collected for histological study and fat necrosis was the criterion used to classify acute pancreatitis. Histological pancreatic findings were edema, mild inflammatory infiltrate of lymphocytes, hemorrhage, congestion, fat necrosis and calcification. All the patients infected with severe form of leptospirosis who develop abdominal pain should raise the suspect of pancreatic involvement. PMID:14762628

Daher, Elizabeth De Francesco; Brunetta, Denise Menezes; de Silva Júnior, Geraldo Bezerra; Puster, Rainardo Antonio; Patrocínio, Régia Maria do Socorro Vidal

2003-01-01

94

Cytogenetics and clinical features of pediatric myelodysplastic syndrome in Japan.  

PubMed

We analyzed the cytogenetics and clinical features of pediatric myelodysplastic syndrome (MDS) in Japan. Data on patients (<16 years) diagnosed with MDS from 1990 to 2000 were retrospectively collected from pediatric hematologists in 234 institutions. Chromosome analysis was successfully performed in 255 of 277 MDS patients. The numbers of patients with refractory anemia, refractory anemia with ringed sideroblasts, refractory anemia with excess of blasts (RAEB), refractory anemia with excess of blasts in transformation (RAEBt), chronic myelomonocytic leukemia, and juvenile myelomonocytic leukemia were 67 (24%), 51 (18%), 51 (18%), 20 (7%), and 65 (23%), respectively. The other 23 patients (8%) could not be classified specifically. The distribution of childhood MDS in Japan according to the French-American-British subclassification was similar to that in other countries. However, we identified a higher incidence of therapy-related cases. As for relationship between cytogenetics and prognoses, abnormal karyotypes were related to poorer prognoses than normal karyotype (P < 0.01). However, patients with trisomy 8 had prognoses comparable to those with normal karyotypes. Complex karyotypes were associated with poorer prognoses among RAEB and RAEBt patients. In conclusion, prognosis of pediatric MDS is related to cytogenetics. A more precise diagnosis and classification system is needed for childhood MDS. PMID:25261124

Moriwaki, Koichi; Manabe, Atsushi; Taketani, Takeshi; Kikuchi, Akira; Nakahata, Tatsutoshi; Hayashi, Yasuhide

2014-11-01

95

Paediatric essential thrombocythaemia: clinical and molecular features, diagnosis and treatment.  

PubMed

The incidence of essential thrombocythaemia (ET) in children (age ?18 years) is extremely low. The natural course of the disorder in children has not been clarified. The rarity of patients and the variability of tested parameters make it difficult to draw any definitive conclusion in pathogenesis and diagnosis of paediatric ET. What makes the onset of thrombocytosis earlier in children is still uncertain. A diagnostic algorithm for paediatric ET has not been established, and current risk stratification used to guide therapeutic decisions in adults has not been validated in children. Vascular complications and transformation to myelofibrosis and leukaemia in this special entity have been reported, suggesting that ET in children is not an entirely benign disease. The crucial question is how to identify patients who are at high risk of complications and need treatment. There are insufficient data to recommend a specific agent in children. The purpose of this review is to outline the most recent progress in paediatric ET and to help with understanding the clinical course, molecular features, diagnosis and treatment strategies in this special group. PMID:24032343

Fu, Rongfeng; Zhang, Lei; Yang, Renchi

2013-11-01

96

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

E-print Network

6/11 Clinical Features: Features of patients with SLC9A6 mutations include mental retardationA6 gene. Molecular and Biochemical Genetics: Mutations of the SLC9A6 [OMIM #300231] gene have been-rich tissues such as brain and skeletal muscle [3]. It is thought that the SLC9A6 protein product, the Na

Ober, Carole

97

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

E-print Network

1/13 Clinical Features: Features of patients with SLC9A6 mutations include mental retardationA6 gene. Molecular and Biochemical Genetics: Mutations of the SLC9A6 [OMIM #300231] gene have been-rich tissues such as brain and skeletal muscle [3]. It is thought that the SLC9A6 protein product, the Na

Ober, Carole

98

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

E-print Network

1/13 Clinical Features: Features of patients with SLC9A6 mutations include mental retardationA6 gene. Molecular and Biochemical Genetics: Mutations of the SLC9A6 [OMIM #300231] gene have been-rich tissues such as brain and skeletal muscle (3). It is thought that the SLC9A6 protein product, the Na

Das, Soma

99

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

100

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

101

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

Muñoz-Yagüe, Teresa; Solís-Muñoz, Pablo; Ciriza de los Ríos, Constanza; Muñoz-Garrido, Francisco; Vara, Jesús; Solís-Herruzo, José Antonio

2014-01-01

102

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

103

Potential 2001 Landing Sites in Melas Chasma, Mars  

NASA Technical Reports Server (NTRS)

We have selected four areas in Valles Marineris as potential landing sites for the 2001 mission. After 20 years of analyses, the formation of the Valles Marineris system of troughs and its associated deposits still has not been sufficiently explained. They could have formed by collapse, as tectonic grabens, or in two stages involving ancestral collapse basins later cut by grabens. Understanding all aspects of the Valles Marineris, in particular the interior layered deposits, would significantly contribute to deciphering the internal and external history of Mars. The deposits have been postulated to be remnants of wall rock, lacustrine deposits, mass wasting deposits, eolian deposits, carbonate deposits, or volcanic deposits. 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 landing sites for the 2001 mission on flat shelves of interior deposits in Melas Chasma.

Weitz, C. M.; Lucchitta, B. K.; Chapman, M. G.

1999-01-01

104

Pseudohypoaldosteronism type 1: clinical features and management in infancy  

PubMed Central

Summary Type 1 pseudohypoaldosteronism (PHA) is a rare heterogeneous group of disorders characterised by resistance to aldosterone action. There is resultant salt wasting in the neonatal period, with hyperkalaemia and metabolic acidosis. Only after results confirm isolated resistance to aldosterone can the diagnosis of type 1 PHA be confidently made. Type 1 PHA can be further classified into i) renal type 1 (autosomal dominant (AD)) and ii) multiple target organ defect/systemic type 1 (autosomal recessive (AR)). The aim of this case series was to characterise the mode of presentation, management and short-term clinical outcomes of patients with PHA type 1. Case notes of newly diagnosed infants presenting with PHA type 1 were reviewed over a 5-year time period. Seven patients were diagnosed with PHA type 1. Initial presentation ranged from 4 to 28 days of age. Six had weight loss as a presenting feature. All subjects had hyperkalaemia, hyponatraemia, with elevated renin and aldosterone levels. Five patients have renal PHA type 1 and two patients have systemic PHA type, of whom one has had genetic testing to confirm the AR gene mutation on the SCNN1A gene. Renal PHA type 1 responds well to salt supplementation, whereas management of patients with systemic PHA type 1 proves more difficult as they are likely to get frequent episodes of electrolyte imbalance requiring urgent correction. Learning points Patients with type 1 PHA are likely to present in the neonatal period with hyponatraemia, hyperkalaemia and metabolic acidosis and can be diagnosed by the significantly elevated plasma renin activity and aldosterone levels.The differential diagnosis of type 1 PHA includes adrenal disorders such as adrenal hypoplasia and congenital adrenal hyperplasia; thus, adrenal function including cortisol levels, 17-hydroxyprogesterone and a urinary steroid profile are required. Secondary (transient) causes of PHA may be due to urinary tract infections or renal anomalies; thus, urine culture and renal ultrasound scan are required respectively.A differentiation between renal and systemic PHA type 1 may be made based on sodium requirements, ease of management of electrolyte imbalance, sweat test results and genetic testing.Management of renal PHA type 1 is with sodium supplementation, and requirements often decrease with age.Systemic PHA type 1 requires aggressive and intensive fluid and electrolyte management. Securing an enteral feeding route and i.v. access are essential to facilitate ongoing therapy.In this area of the UK, the incidence of AD PHA and AR PHA was calculated to be 1:66?000 and 1:166?000 respectively. PMID:24616761

Amin, N; Alvi, N S; Barth, J H; Field, H P; Finlay, E; Tyerman, K; Frazer, S; Savill, G; Wright, N P; Makaya, T; Mushtaq, T

2013-01-01

105

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

106

Clinical and molecular features of human rhinovirus C.  

PubMed

A newly discovered group of human rhinoviruses (HRVs) has been classified as the HRV-C species based on distinct genomic features. HRV-Cs circulate worldwide, and are important causes of upper and lower respiratory illnesses. Methods to culture and produce these viruses have recently been developed, and should enable identification of unique features of HRV-C replication and biology. PMID:22285901

Bochkov, Yury A; Gern, James E

2012-06-01

107

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

108

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

109

Clinical Features of Acute Allergic Reactions to Peanut and Tree Nuts in Children  

Microsoft Academic Search

Background. Peanut (PN) and tree nut (TN) allergies are potentially life-threatening, rarely out- grown, and appear to be increasing in prevalence. How- ever, there is relatively little reported about the clinical features of acute reactions to these foods and their po- tential association. Objective. To describe the clinical features of acute reactions during initial and subsequent accidental inges- tions of

Scott H. Sicherer; A. Wesley Burks; Hugh A. Sampson

110

Newly Described Clinical and Immunopathological Feature of Dermatitis Herpetiformis  

PubMed Central

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

111

The spectrum of clinical features in CHARGE syndrome.  

PubMed

Fifteen patients with CHARGE syndrome are described, nine sporadic and six familial. A recognizable pattern of malformations is present which appears to constitute a syndrome rather than a non-random association. In addition to acronymic features of Coloboma, Heart disease, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies, other important diagnostic features include facial paralysis and feeding problems suggestive of velopharyngeal incompetency. A square facial appearance with asymmetry and malar flattening is characteristic, and long philtrum or prominent nasal columella may be present. Characteristic external ear anomalies and a 'wedge'-shaped audiogram may be unique to this syndrome. Short stature and hypogonadism with genital hypoplasia is pituitary or possibly hypothalamic in origin. Each feature varies from normal to severe involvement including mental function, and no single feature appears to be necessary for diagnosis. PMID:2424647

Davenport, S L; Hefner, M A; Mitchell, J A

1986-04-01

112

Primary orbital liposarcoma: clinical and computed tomographic features.  

PubMed Central

Liposarcoma of the orbit is rare. The clinical and radiological characteristics of two cases, of myxoid and pleomorphic types, are reported. In neither case was the histological diagnosis evident before surgery. Images PMID:2378859

McNab, A A; Moseley, I

1990-01-01

113

[Serum and urine osmolality: clinical and laboratory features].  

PubMed

Clinical practice is frequently challenged by limited funding and resources, which finally limit both clinical effectiveness and safety of some therapies. Electrolyte disorders represent serious problems in the clinical management. Nonetheless the osmometer, that is the reference instrument for routine assessment of osmolality, it is only available in a limited number of healthcare facilities. The diagnosis of the leading electrolyte disorders relies therefore on indirect criteria, frequently inaccurate, especially when inappropriately used. According to recent evidences emerged on prevalence, severity and therapeutic approach of patients with electrolyte disturbances such as hyponatremia, the diagnostic appropriateness is now regarded as an essential aspect of the clinical decision making. Recent multidisciplinary guidelines indicate that urinary osmolality is a mainstay in the differential diagnosis of hyponatremic states. Since hyponatremia is commonplace across a broad range of clinical conditions, it is noteworthy that accurate knowledge of the different equations that may be used for its calculation in serum or urine is not widespread among general and hospital physicians. To couple with these clinical issues, this article is aimed to briefly describe the epidemiology and clinics of osmolality disturbances and to suggest some equations that may be useful for its routine assessment in serum or urine, and which can be applied to different categories of patients. The usefulness and reliability of additional indirect methods used in the diagnostic approach of electrolyte disturbances, such as the assessment of urine specific gravity, will also be briefly discussed. The equations that will be proposed have been validated in small sample population studies, but are commonly used as a surrogate or replacement of direct osmolality assessment. A larger multicentric study is hence necessary to validate the clinical use of the equations used for the calculation of serum and urine osmolality. PMID:25315724

Trepiccione, Francesco; Capasso, Giovambattista; Lippi, Giuseppe

2014-01-01

114

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

115

Metastatic bone disease: clinical features, pathophysiology and treatment strategies  

Microsoft Academic Search

Metastatic bone disease develops as a result of the many interactions between tumour cells and bone cells. This leads to disruption of normal bone metabolism, with the increased osteoclast activity seen in most, if not all, tumour types providing a rational target for treatment. The clinical course of metastatic bone disease in multiple myeloma, breast and prostate cancers is relatively

R. E. Coleman

2001-01-01

116

Acute exacerbation of idiopathic pulmonary fibrosis: frequency and clinical features  

Microsoft Academic Search

Although acute exacerbations of idiopathic pulmonary fibrosis are well recognised, there are no studies documenting their prevalence or identifying pre-existing risk factors. This study analysed the clinical, radiological and pathological data of 11 patients who satisfied the criteria for acute exacerbation among 147 patients with biopsy-proven idiopathic pulmonary fibrosis. There were five additional patients who had similar demographics, radiology and

D. S. Kim; J. H. Park; B. K. Park; J. S. Lee; A. G. Nicholson; T. Colby

2006-01-01

117

Pine nut allergy: clinical features and major allergens characterization  

Technology Transfer Automated Retrieval System (TEKTRAN)

Pine nuts, the seeds of pine trees, are widely used for human consumption in Europe, America, and Asia. The aims of this study were to evaluate IgE-mediated hypersensitivity to pine nut in a large number of patients with details of clinical reactions, and to characterize major pine nut allergens. Th...

118

Polymyositis, dermatomyositis, and autoimmune necrotizing myopathy: clinical features.  

PubMed

Idiopathic inflammatory myopathies are a heterogeneous group of autoimmune disorders predominantly affecting skeletal muscles, resulting in muscle inflammation and weakness. The 3 most common inflammatory myopathies are polymyositis (PM), dermatomyositis (DM), and inclusion body myositis. This review details the clinical findings noted in PM, DM, and the emerging entity of autoimmune necrotizing myopathy. PMID:21444016

Khan, Sabiha; Christopher-Stine, Lisa

2011-05-01

119

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

120

Antibody titers predict clinical features of autoimmune autonomic ganglionopathy  

Microsoft Academic Search

Autoimmune autonomic ganglionopathy is a disorder of isolated autonomic failure associated with antibodies to the nicotinic acetylcholine receptor of the autonomic ganglia resulting in severe orthostatic intolerance, syncope, constipation, gastroparesis, urinary retention, dry mouth, dry eyes, blurred vision and anhidrosis. We report the autonomic test results, antibody titers and clinical findings in 8 patients with antibodies to the nicotinic acetylcholine

Christopher H. Gibbons; Roy Freeman

2009-01-01

121

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

122

Epileptic motor behaviors during sleep: Anatomo-electro-clinical features  

Microsoft Academic Search

Sleep-related complex motor seizures have long been considered pathognomonic features of Nocturnal Frontal Lobe Epilepsy (NFLE). In recent years, these manifestations have also been reported to have a temporal or insular origin. We describe 40 drug-resistant epileptic patients with complex motor seizures during sleep, submitted to presurgical stereo-EEG (SEEG) evaluation and seizure-free after surgical resection of the epileptogenic zone. In

P. Proserpio; M. Cossu; S. Francione; F. Gozzo; G. Lo Russo; R. Mai; A. Moscato; M. Schiariti; I. Sartori; L. Tassi; L. Nobili

123

Leprosy nephropathy: a review of clinical and histopathological features.  

PubMed

Leprosy is a chronic disease caused by Mycobacterium leprae, highly incapacitating, and with systemic involvement in some cases. Renal involvement has been reported in all forms of the disease, and it is more frequent in multibacillary forms. The clinical presentation is variable and is determined by the host immunologic system reaction to the bacilli. During the course of the disease there are the so called reactional states, in which the immune system reacts against the bacilli, exacerbating the clinical manifestations. Different renal lesions have been described in leprosy, including acute and chronic glomerulonephritis, interstitial nephritis, secondary amyloidosis and pyelonephritis. The exact mechanism that leads to glomerulonephritis in leprosy is not completely understood. Leprosy treatment includes rifampicin, dapsone and clofazimine. Prednisone and non-steroidal anti-inflammatory drugs may be used to control acute immunological episodes. PMID:25651321

Silva Junior, Geraldo Bezerra da; Daher, Elizabeth De Francesco; Pires Neto, Roberto da Justa; Pereira, Eanes Delgado Barros; Meneses, Gdayllon Cavalcante; Araújo, Sônia Maria Holanda Almeida; Barros, Elvino José Guardão

2015-02-01

124

LEPROSY NEPHROPATHY: A REVIEW OF CLINICAL AND HISTOPATHOLOGICAL FEATURES  

PubMed Central

Leprosy is a chronic disease caused by Mycobacterium leprae, highly incapacitating, and with systemic involvement in some cases. Renal involvement has been reported in all forms of the disease, and it is more frequent in multibacillary forms. The clinical presentation is variable and is determined by the host immunologic system reaction to the bacilli. During the course of the disease there are the so called reactional states, in which the immune system reacts against the bacilli, exacerbating the clinical manifestations. Different renal lesions have been described in leprosy, including acute and chronic glomerulonephritis, interstitial nephritis, secondary amyloidosis and pyelonephritis. The exact mechanism that leads to glomerulonephritis in leprosy is not completely understood. Leprosy treatment includes rifampicin, dapsone and clofazimine. Prednisone and non-steroidal anti-inflammatory drugs may be used to control acute immunological episodes. PMID:25651321

da Silva, Geraldo Bezerra; Daher, Elizabeth De Francesco; Pires, Roberto da Justa; Pereira, Eanes Delgado Barros; Meneses, Gdayllon Cavalcante; Araújo, Sônia Maria Holanda Almeida; Barros, Elvino José Guardão

2015-01-01

125

Genetic and clinical features of primary torsion dystonia  

PubMed Central

Primary torsion dystonia (PTD) is defined as a syndrome in which dystonia is the only clinical sign (except for tremor), and there is no evidence of neuronal degeneration or an acquired cause by history or routine laboratory assessment. Seven different loci have been recognized for PTD but only two of the genes have been identified. In this review we will described the phenotypes associated with these loci and discuss the responsible gene. PMID:21168499

Ozelius, Laurie J.; Bressman, Susan B.

2011-01-01

126

Differential Diagnosis, Clinical Features, and Prognosis of Multiple Sclerosis  

Microsoft Academic Search

The diagnosis and prognosis of multiple sclerosis (MS) has changed dramatically over the years from the first descriptions\\u000a from St. Lidwina of Schiedam (1380–1433) and Augustus D’Este (grandson of George III) between 1822 and 1848 to the pathological\\u000a descriptions of Cruveilhier (1829–1842) and Carswell (1838). Serious study and synthesis of clinical and pathological human\\u000a MS began with the work of

Michael J. Olek

127

The Clinical Features of Sarcoidosis: A Comprehensive Review.  

PubMed

Sarcoidosis has innumerable clinical manifestations, as the disease may affect every body organ. Furthermore, the severity of sarcoidosis involvement may range from an asymptomatic state to a life-threatening condition. This manuscript reviews a wide variety of common and less common clinical characteristics of sarcoidosis. These manifestations are presented organ by organ, although additional sections describe systemic and multiorgan presentations of sarcoidosis. The lung is the organ most commonly involved with sarcoidosis with at least 90 % of sarcoidosis patients demonstrating lung involvement in most series. The skin, eye, liver, and peripheral lymph node are the next most commonly clinically involved organs in most series, with the frequency of involvement ranging from 10 to 30 %. The actual frequency of sarcoidosis organ involvement is probably much higher as it is frequently asymptomatic and may avoid detection. This is particularly common with lung, liver, cardiac, and bone involvement. Cardiac sarcoidosis is present in 25 % of all sarcoidosis but only causes clinical problems in 5 % of them. Nevertheless, unlike sarcoidosis involvement of most other organs, it may be suddenly fatal. Therefore, it is important to screen for cardiac sarcoidosis in all sarcoidosis patients. All sarcoidosis patients should also be screened for eye involvement as asymptomatic patients may have eye involvement that may cause permanent vision impairment. Pulmonary fibrosis from sarcoidosis is usually slowly progressive but may be life-threatening because of the development of respiratory failure, pulmonary hypertension, or hemoptysis related to a mycetoma or bronchiectasis. Some manifestations of sarcoidosis are not organ-specific and probably are the result of a release of mediators from the sarcoid granuloma. Two such manifestations include small fiber neuropathy and fatigue syndromes, and they are observed in a large percentage of patients. PMID:25274450

Judson, Marc A

2014-10-01

128

Genetic and Clinical Features of P450 Oxidoreductase Deficiency  

Microsoft Academic Search

P450 oxidoreductase (POR) deficiency is an autosomal recessive disorder of steroidogenesis with multiple clinical manifestations. POR is the electron donor for all microsomal P450 enzymes, including the three steroidogenic enzymes P450c17 (17?-hydroxylase\\/17,20-lyase), P450c21 (21-hydroxylase), and P450aro (aromatase). Since the first description of POR mutations in 2004, about 50 patients have been reported. Serum steroid profiles indicate partial deficiencies in 21-hydroxylase,

Rachel R. Scott; Walter L. Miller

2008-01-01

129

Pathological and clinical features of cystic and noncystic glioblastomas  

Microsoft Academic Search

The aim of this study is to review the different histological and clinical characteristics of glioblastoma multiforme (GBM)\\u000a with and without cysts (cystic and noncystic GBM, respectively). Thirty-seven GBM were collected; these were tumors for which\\u000a more than 80% of the volume was surgically resected, including a portion of the peripheral parenchyma of the brain. Based\\u000a on preoperative magnetic resonance

Satoshi Utsuki; Hidehiro Oka; Sachio Suzuki; Satoru Shimizu; Yoshinori Tanizaki; Koji Kondo; Satoshi Tanaka; Nobuyuki Kawano; Kiyotaka Fujii

2006-01-01

130

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

131

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

132

Depression in the Elderly: Clinical Features and Risk Factors  

PubMed Central

Depression in elderlies is not known quite well and thus cannot be treated adequately. The fact that elderliness is accepted as a property of depressive symptoms both by the relatives of the patients and doctors is one of the factors which make it difficult to recognize depression. Existence of multiple physical diseases in elderlies, use of multiple medicines, occurrence of pharmacokinetic and pharmacodynamics changes depending on the age necessitate to take several factors into account while diagnosing and using medicines. In this study, clinical properties and risk factors of depression in old age period was reviewed and the properties of such depressions were summarized. PMID:23251852

Sözeri-Varma, Gülfizar

2012-01-01

133

[Clinical features and diagnostic criteria of bulimia nervosa].  

PubMed

Based on the results of the clinical follow-up study of 41 female patients, diagnostic criteria of bulimia nervosa that should be used in clinical studies are suggested as follows: (1) presence of anorexia nervosa or transitory amenorrhea in the premorbid period; (2) eating attacks with losing of the control over food consumption not less than twice a week during 3 months; (3) compensatory behavior in the form of spontaneous vomiting, abuse of purgative and diuretic medications etc; (4) fear of obesity; (5) cycloid affective changes with higher impulsivity, reduction of the control over primitive drives and/or expressed anxiety disorders; inclination to alcohol and drug abuse and nicotine dependence; (6) changes of the body mass index; (7) absence of amenorrhea. The disease dynamics is characterized by formation of the pathological cycle "diet--overeating--compensatory behavior" on the background of cyclothymic affective disorders. Two types of bulimia nervosa--with and without other drive disorders--have been singled out. PMID:16841479

Marilov, V V; Sologub, M B

2006-01-01

134

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

135

Clinical features and management of organic acidemias in Japan.  

PubMed

Organic acidemias (OAs) are rare inborn errors of metabolism. The clinical presentations of methylmalonic acidemia (MMA) and propionic acidemia (PA) in Japan have not yet been examined in detail. We aimed to investigate the clinical presentations of OAs in Japan and evaluate current therapies for improving long-term outcomes, especially in MMA and PA cases. Questionnaires were sent to 928 institutions in 2009 inquiring about OAs, and secondary questionnaires were sent to those who confirmed that they had diagnosed and/or treated such cases; 119 cases were eventually included for analysis. In Japan, the majority of OAs was MMA, which was associated with a high mortality rate. The survival rates at 20 years of age in vitamin B12-unresponsive MMA, vitamin B12-responsive MMA and PA patients were 69.8%, 94.4% and 95.8%, respectively. Factors associated with mortality in MMA were failure to thrive, hypoglycemia and pancreatitis. Factors associated with mental retardation in vitamin B12-unresponsive MMA, vitamin B12-responsive MMA, and PA were seizure and liver dysfunction, seizure and failure to thrive, and failure to thrive, respectively. We advocated that avoiding failure to thrive due to too restricted protein diet, hypoglycemia and pancreatitis associated with mortality lead to improve outcome, especially in vitamin B12-unresponsive MMA patients. PMID:24067294

Fujisawa, Daisuke; Nakamura, Kimitoshi; Mitsubuchi, Hiroshi; Ohura, Toshihiro; Shigematsu, Yosuke; Yorifuji, Tohru; Kasahara, Mureo; Horikawa, Reiko; Endo, Fumio

2013-12-01

136

[Alopecia and hypotrichosis in childhood: clinical features and diagnosis].  

PubMed

The monogenic inherited isolated alopecias comprise a group of clinically and genetically heterogeneous disorders with decreased or absent hair. Clinical classification of the isolated alopecias is based upon the onset of the disorder, the regions affected, and the structure of the hair shaft. Men and women are equally affected, and the mode of inheritance is autosomal dominant or autosomal recessive. Therapy does not exist for these rare forms of alopecia. However, molecular genetic diagnosis is possible for the identification of the genetic causes and for the specification of the recurrence risk. Since the identification of the keratin gene KRT86 as a cause of the so called monilethrix in 1997, mutations in eleven other genes have been identified for various isolated alopecias. These include other keratin genes for monilethrix, the HR gene for atrichia congenita, the genes CDSN, APCDD1 and SNRPE for the autosomal dominant form of hypotrichosis simplex, and the genes DSG4, LIPH and LPAR6 for the autosomal recessive forms of hypotrichosis as well as U2HR for hypotrichosis type Marie Unna. Molecular genetic and pathophysiological studies of these rare disorders of hair development have significantly contributed to our understanding of the basic mechanisms of hair loss as well as the physiological mechanisms of hair growth. PMID:24898506

Betz, R C

2014-06-01

137

Decreased hippocampal expression of Calbindin D28K and cognitive impairment in MELAS  

PubMed Central

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a maternally inherited mitochondrial syndrome characterized by seizures, migrainous headaches, lactic acidosis, vomiting, and recurrent stroke-like episodes. Patients often suffer from cognitive dysfunction of unclear pathogenesis. In this study, we explored a possible link between cognitive dysfunction and hippocampal expression of calbindin D28KD (CB), a high affinity calcium-binding protein, in four MELAS patients, using post mortem hippocampal tissues. We found significantly reduced CB levels in all patients by immunohistochemistry, Western blot, and quantitative real-time PCR. Reduction in CB expression has been associated with aging and with neurodegenerative disorders, including Alzheimer’s disease. We postulate that the reduced CB expression may play a role in the cognitive abnormalities associated with MELAS. PMID:22483853

Emmanuele, Valentina; Garcia-Cazorla, Angels; Huang, Hua-Bin; Çoku, Jorida; Dorado, Beatriz; Cortes, Etty P; Engelstad, Kristin; De Vivo, Darryl C.; DiMauro, Salvatore; Bonilla, Eduardo; Tanji, Kurenai

2012-01-01

138

The Noonan Syndrome--A Review of the Clinical and Genetic Features of 27 Cases  

ERIC Educational Resources Information Center

Reviewed were clinical and genetic features of 27 cases of the Noonan Syndrome, a condition with characteristics such as webbing of the neck, short stature, frequent congential heart lesions, and chromosomal irregularities. (DB)

Collins, Edith; Turner, Gillian

1973-01-01

139

Clinical and serological features of mesangial IgA glomerulonephritis.  

PubMed

IgA-glomerulonephritis (IgA-GN) accounts for approximately 20 per cent of all glomerulonephritis in our unit. Seventeen out of 50 patients with IgA-GN developed renal failure, which appeared in 11 out of 17 over the course of a mean follow-up of 68 months. Haemodialysis was required in three patients. Twenty-two out of 50 patients had hypertension, five with malignant hypertension. Perivascular IgA deposits were found in skin biopsies of 29 per cent of patients with IgA-GN and also in 19 per cent of patients with other GN, but not in healthy controls. Mucosal (salivary and nasal) secretory IgA concentrations were normal. In cutaneous and glomerular IgA/IgM deposits, IgA1 was demonstrated using monoclonal antibodies. No excess of HLA-A, B or DR antigens and no relation of clinical course and HLA-Bw35 were found. PMID:6348757

Rambausek, M; Seelig, H P; Andrassy, K; Waldherr, R; Lenhard, V; Ritz, E

1983-01-01

140

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

141

Clinical features in adult patient with Wolf-Hirschhorn syndrome.  

PubMed

The Wolf-Hirschhorn syndrome (WHS) encompasses deletions at the distal part of the short arm of one chromosome 4 (4p16 region). Clinical signs frequently include a typical facial appearance, mental retardation, intrauterine and postnatal growth retardation, hypotonia with decreased muscle bulk and seizures besides congenital heart malformations, midline defects, urinary tract malformations and brain, hearing and ophthalmologic malformations. Pathogenesis of WHS is multigenic and many factors are involved in prediction of prognosis such as extent of deletion, the occurrence of severe chromosome anomalies, the severe of seizures, the existence of serious internal, mainly cardiac, abnormalities and the degree of mental retardation. The phenotype of adult with WHS is in general similar to that of childhood being facial dysmorphism, growth retardation and mental retardation the rule in both adults and children. Avoid long-term complications and provide rehabilitation programs and genetic counseling may be essential in these patients. PMID:24656633

Martínez-Quintana, E; Rodríguez-González, F

2014-06-01

142

Experimental poliomyelitis in bonnet monkey. Clinical features, virology and pathology.  

PubMed

We have investigated the distribution of virus and the pathology in the spinal cords of bonnet monkeys (Macaca radiata) with experimental paralytic poliomyelitis induced by inoculating poliovirus type 1 (Mahoney) into the right ulnar nerve. Viraemia and alimentary tract infection due to the inoculated virus were found in all monkeys. Between two and seven days after the onset of limb paralysis, the animals were killed and the spinal cord examined. Virus was isolated from the cervical enlargement, thoracic region and lumbar enlargement in titres ranging from 10(2.5) to 10(6.4) TCID50/gram of tissue. Cellular infiltrate, perivascular cuffing, early and late neuronal damage such as chromatolysis, nuclear pyknosis, retraction of the cytoplasm and neuronophagia were seen distributed throughout the spinal cord. This experimental animal model resembles human paralytic poliomyelitis clinically and pathologically. PMID:8388833

Samuel, B U; Ponnuraj, E; Rajasingh, J; John, T J

1993-01-01

143

Right atrial spontaneous contrast: echocardiographic and clinical features.  

PubMed

We describe the clinical and echocardiographic findings in eight patients with right atrial spontaneous echo contrast who were identified from 648 consecutive patients undergoing transesophageal echocardiography. Common findings in these patients were right atrial enlargement (8 patients), tricuspid regurgitation (7 patients), atrial fibrillation or flutter (6 patients), elevated right ventricular pressure (5 patients), moderate or severe mitral valve disease (5 patients), and right to left interatrial shunts (3 patients). Right heart catheterization in three patients showed markedly elevated right atrial, right ventricular, and pulmonary artery pressures. Two patients had thromboembolic events-one patient had recurrent pulmonary emboli, and another patient with an atrial septal aneurysm had recurrent transient ischemic attacks. Right atrial echo contrast is an uncommon finding at echocardiography that is associated with severe right heart dysfunction. It may also be associated with paradoxical or pulmonary embolism. PMID:7876662

DeGeorgia, M A; Chimowitz, M I; Hepner, A; Armstrong, W F

1994-09-01

144

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

145

Ocular toxocariasis: clinical features, diagnosis, treatment, and prevention.  

PubMed

Despite being one of the most common zoonotic infections worldwide, human toxocariasis has been one of the neglected tropical diseases. Although most human infections are asymptomatic, two main syndromes of human toxocariasis are classically recognized: systemic toxocariasis, which encompasses diseases in major organs; and ocular toxocariasis (OT), disease in the eye or optic nerve, caused by the migration of Toxocara larvae into the eye. OT is usually a unilateral disease, which typically presents as retinal granuloma, a yellowish or whitish inflammatory mass, in the posterior pole or peripheral retina. Granuloma itself or other comorbid conditions such as epiretinal membrane, macular edema, and retinal detachment can lead to permanent retinal damage and visual loss in eyes with OT. OT is diagnosed clinically by identification of clinical signs on ophthalmologic examination. Serological tests, such as enzyme-linked immunosorbent assay (ELISA) for detection of serum antibody against the Toxocara larvae, can confirm the diagnosis. In addition, serum immunoglobulin E and detection of ocular fluid antitoxocara antibody by ELISA may give additional aid to the diagnosis. Standard treatment of OT is corticosteroid in patients with active intraocular inflammation. Although the role of anthelmintic therapy is unclear, favorable outcome has been reported by combined corticosteroid and albendazole therapy in eyes with active inflammation. Prevention, by increasing public awareness and reducing the risk of infection, is also important. Recently, the association between ingestion of uncooked meat or liver and toxocariasis was reported, especially in adult patients. Future research on the potential source of infection, diagnosis, and treatment should be performed. PMID:25097848

Ahn, Seong Joon; Ryoo, Na-Kyung; Woo, Se Joon

2014-07-01

146

Antibody titers predict clinical features of autoimmune autonomic ganglionopathy.  

PubMed

Autoimmune autonomic ganglionopathy is a disorder of isolated autonomic failure associated with antibodies to the nicotinic acetylcholine receptor of the autonomic ganglia resulting in severe orthostatic intolerance, syncope, constipation, gastroparesis, urinary retention, dry mouth, dry eyes, blurred vision and anhidrosis. We report the autonomic test results, antibody titers and clinical findings in 8 patients with antibodies to the nicotinic acetylcholine receptor of the autonomic ganglia. There was a sigmoidal relation between the antibody titers and the fall in systolic blood pressure (r(2)=0.84). The threshold occurred with antibody titers of approximately 1 nmol/l. Over the linear portion of the sigmoid curve, with antibody titers in the 1-3 nmol/l range, increasing antibody titers resulted in more severe orthostatic hypotension (r=0.94, P<0.001). The saturation point of the sigmoidal relation occurred at approximately 3 nmol/l with drops in systolic blood pressure of approximately 100 mmHg during upright tilt. The antibody titers correlated inversely with the Valsalva ratio (r=-0.87, P<0.001), the 30:15 ratio (r=-0.84, P<0.001) and the expiratory to inspiratory ratio (r=-0.67, P<0.01). Patients with orthostatic intolerance, anhidrosis, constipation, urinary dysfunction, sicca syndrome and pupillary dysfunction had higher antibody titers than subjects that did not (P<0.01 in all cases). Autoimmune autonomic ganglionopathy is a clinically heterogeneous disease with variable presentation, particularly in subjects with lower antibody titers. Our data suggest that patients with higher antibody titers have wide spread dysautonomia while those with lower antibody levels may present with, or evolve into, more focal or restricted presentations. PMID:19144572

Gibbons, Christopher H; Freeman, Roy

2009-03-12

147

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

148

Intrathecal baclofen overdose followed by withdrawal: clinical and EEG features.  

PubMed

Intrathecal baclofen therapy is increasingly used to alleviate medically intractable spasticity in children with cerebral palsy, spinal cord injuries, and generalized dystonia. Complications like overdose or withdrawal can occur and could be the result of pump malfunction (device-related) or refilling and programming mistakes (human errors). This report describes a case, with emphasis on electroencephalographic changes, of a 12-year old male on long-term intrathecal baclofen therapy who had sequential occurrence of both acute inadvertent baclofen overdose followed by withdrawal symptoms. During baclofen intoxication, electroencephalography documented periodic generalized epileptiform discharges, occasionally followed by intermittent electro-decremental responses on a background of diffuse delta slowing (1-2 Hz). During withdrawal, mild generalized slowing during wakefulness was observed along with the appearance of high-amplitude, sharply contoured delta activity resembling frontal intermittent rhythmic delta activity in sleep. To our knowledge, this temporal profile of electroencephalographic features during baclofen intoxication followed by withdrawal has not been described before in pediatric patients. It is important for treating physicians to recognize the evolution of this electroencephalographic pattern in order to avoid misinterpretation of diagnosis and prognosis. PMID:16243227

Darbari, Farzana P; Melvin, Joseph J; Piatt, Joseph H; Adirim, Terry A; Kothare, Sanjeev V

2005-11-01

149

Rasmussen's encephalitis: clinical features, pathobiology, and treatment advances.  

PubMed

Rasmussen's encephalitis is a rare chronic neurological disorder, characterised by unilateral inflammation of the cerebral cortex, drug-resistant epilepsy, and progressive neurological and cognitive deterioration. Neuropathological and immunological studies support the notion that Rasmussen's encephalitis is probably driven by a T-cell response to one or more antigenic epitopes, with potential additional contribution by autoantibodies. Careful analysis of the association between histopathology and clinical presentation suggests that initial damage to the brain is mediated by T cells and microglia, suggesting a window for treatment if Rasmussen's encephalitis can be diagnosed early. Advances in neuroimaging suggest that progression of the inflammatory process seen with MRI might be a good biomarker in Rasmussen's encephalitis. For many patients, families, and doctors, choosing the right time to move from medical management to surgery is a real therapeutic dilemma. Cerebral hemispherectomy remains the only cure for seizures, but there are inevitable functional compromises. Decisions of whether or when surgery should be undertaken are challenging in the absence of a dense neurological deficit, and vary by institutional experience. Further, the optimum time for surgery, to give the best language and cognitive outcome, is not yet well understood. Immunomodulatory treatments seem to slow rather than halt disease progression in Rasmussen's encephalitis, without changing the eventual outcome. PMID:24457189

Varadkar, Sophia; Bien, Christian G; Kruse, Carol A; Jensen, Frances E; Bauer, Jan; Pardo, Carlos A; Vincent, Angela; Mathern, Gary W; Cross, J Helen

2014-02-01

150

Epidemiology, pathology and clinical features of genital mycoses--1981 status.  

PubMed

The clinical picture of candidal vaginitis was described for the first time in 1792. The connection with yeasts was already discovered in the 19th century. Not until the last 35 years, however, have the epidemiologic aspects of genital mycoses and the diagnostic and therapeutic principles been systematically developed. The rise in the incidence of the disease is due to several factors: the administration of corticosteroids, cystostatic agents, and oral contraceptives as well as socioeconomic circumstances. Two serious complications of vaginal yeast infection in pregnant women should be noted: the amniotic infection syndrome and neonatal contamination at the time of delivery. Vulvovaginitis is one of the most common genital diseases in childhood and adolescence. Mycoses can be diagnosed in daily gynecological practice by simple, reliable methods, but only culture on prepared media or by incubation of standardized plates can be depended upon to establish or rule out a mycosis. Effective antimycotics with a broad spectrum of activity have been developed in the last 15 years. We have been primarily concerned with clotrimazole because of our own investigations and impartial comparisons with other fungicidal drugs. Studies of patient compliance have shown that the diseased women accept short-term therapy most readily. However, appropriate control examinations are needed to document the results of treatment. PMID:6761085

Senft, H H; Korte, W

1982-01-01

151

Acute sarcoid arthritis: occurrence, seasonal onset, clinical features and outcome.  

PubMed

In a 2-yr prospective follow-up study of patients presenting clinically with possible reactive arthritis (ReA), 17 (9%) of the patients turned out to have acute sarcoid arthritis (SA). The number of new cases of SA per year was 2.9/100,000 persons in the city of Oslo between 18 and 60 yr of age. The onset of SA clustered in the spring. All the SA patients presented with bilateral ankle joint involvement and bilateral hilar lymphadenopathy, and ten (59%) presented with the triad of erythema nodosum, arthritis and lung involvement. A prospective follow-up after 104 weeks showed complete remission of arthritis in all 17 cases of SA. The total duration of arthritis [median (range)] was 11 (2-107) weeks. Erythema nodosum was mild and transient in all cases. At week 104, the lung and hilar manifestations had resolved. We conclude that the outcome of SA appeared favourable. Bilateral ankle joint involvement, erythema nodosum and bilateral hilar lymphadenopathy found at the routine chest X-ray examination are important clues for the diagnosis of SA. PMID:7881838

Glennås, A; Kvien, T K; Melby, K; Refvem, O K; Andrup, O; Karstensen, B; Thoen, J E

1995-01-01

152

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; Sénéchal, Agathe; Dupieux, Céline; Karsenty, Judith; Lustig, Sébastien; Breton, Pierre; Gleizal, Arnaud; Boussel, Loïc; Laurent, Frédéric; Braun, Evelyne; Chidiac, Christian; Ader, Florence; Ferry, Tristan

2014-01-01

153

Clinical, histopathologic & immunologic features of cutaneous lesions in acute meningococcaemia.  

PubMed

Fifty children with culture proven acute meningococcaemia were studied during the winter outbreak of the disease in 1986-87. Purpuric lesions were seen in 60 per cent, erythematous papules in 32 per cent, faint pink macules in 28 per cent, conjunctival petechiae in 10 per cent and herpes labialis in 20 per cent. Histopathology of skin lesions showed that the primary damage was to the dermal vessels, the extent of damage depending on the type of skin involvement. Diplococci in Gram's stained sections were seen frequently in purpuric as compared to the other skin lesions. They were located in degenerating neutrophils, endothelial cells, fibrin clots or freely in the vascular lumen. Electron microscopic study showed vascular changes accompanied by a perivascular phagocytic response. Both light and electronmicroscopy indicated the involvement of the coagulative mechanism in the pathogenesis of meningococcaemia. However, clinical parameters of clotting were often within normal limits. In the case of a child (who died eventually), a low platelet count and prolonged coagulation indices were observed. Sera from some of the children were tested for the presence of antibodies against meningococci by indirect immunofluorescence. Antibodies were detected in the sera and they may have a role in regulating the severity and course of the illness. The significance of immunoglobulin deposits in the skin lesions is not clear. PMID:2111800

Ramesh, V; Mukherjee, A; Chandra, M; Sehgal, S K; Saxena, U; Jain, A K; Wadhwa, A

1990-01-01

154

Lymphocytic Panhypophysitis: its Clinical Features in Japanese Cases  

PubMed Central

Lymphocytic hypophysitis is divided into three forms according to the involved tissues, lymphocytic adenohypophysitis, lymphocytic infundibulo-neurohypophysitis, and lymphocytic panhypophysitis (LPH). The term LPH was first proposed by us in 1995, although its entity and pathogenesis still remain controversial. Here we report five cases of LPH, who visited our clinics during 1994 to 2009. All cases were female of 20 to 77 years of age, and one case was associated with pregnancy. They presented with polyuria (n = 4), headache (n = 3), general malaise, polydipsia (n = 2), blunted vision, diplopia, amenorrhea or appetite loss (n = 1). Magnetic resonance imaging showed the pituitary swelling, the thickened stalk, the loss of the T1 hyperintense neurohypophysis (n = 4), or the atrophic pituitary (n = 1). Endocrinological examinations revealed deficiencies of TSH, ADH in all cases, GH, ACTH in three cases, LH, PRL in two cases, and FSH in one case, respectively. The severity of ADH deficiency varied among the cases. Anti-pituitary antibody was not detected in the cases examined. The biopsy of the pituitary lesions was performed except for one case, all of which revealed the diffuse lymphocytic infiltration. These results suggest that LPH is characterized by the female predominance, the atypical patterns of anterior pituitary hormone deficiencies and the variable degrees of diabetes insipidus in Japanese. PMID:23885185

Wada, Yoshiharu; Hamamoto, Yoshiyuki; Nakamura, Yoshio; Honjo, Sachiko; Kawasaki, Yukiko; Ikeda, Hiroki; Takahashi, Jun; Yuba, Yoshiaki; Shimatsu, Akira; Koshiyama, Hiroyuki

2011-01-01

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

Rasmussen’s encephalitis: clinical features, pathobiology, and treatment advances  

PubMed Central

Rasmussen’s encephalitis is a rare chronic neurological disorder, characterised by unilateral inflammation of the cerebral cortex, drug-resistant epilepsy, and progressive neurological and cognitive deterioration. Neuropathological and immunological studies support the notion that Rasmussen’s encephalitis is probably driven by a T-cell response to one or more antigenic epitopes, with potential additional contribution by autoantibodies. Careful analysis of the association between histopathology and clinical presentation suggests that initial damage to the brain is mediated by T cells and microglia, suggesting a window for treatment if Rasmussen’s encephalitis can be diagnosed early. Advances in neuroimaging suggest that progression of the inflammatory process seen with MRI might be a good biomarker in Rasmussen’s encephalitis. For many patients, families, and doctors, choosing the right time to move from medical management to surgery is a real therapeutic dilemma. Cerebral hemispherectomy remains the only cure for seizures, but there are inevitable functional compromises. Decisions of whether or when surgery should be undertaken are challenging in the absence of a dense neurological deficit, and vary by institutional experience. Further, the optimum time for surgery, to give the best language and cognitive outcome, is not yet well understood. Immunomodulatory treatments seem to slow rather than halt disease progression in Rasmussen’s encephalitis, without changing the eventual outcome. PMID:24457189

Varadkar, Sophia; Bien, Christian G; Kruse, Carol A; Jensen, Frances E; Bauer, Jan; Pardo, Carlos A; Vincent, Angela; Mathern, Gary W; Cross, J Helen

2014-01-01

157

Clinical Significance of Nonpalpable Prostate Cancer with Favorable Biopsy Features in Japanese Men  

Microsoft Academic Search

Objective: To assess the clinical significance of nonpalpable localized prostate cancers with relatively favorable six sextant biopsy features in Japanese men.Patients and Methods: 136 nonpalpable prostate cancers of which biopsy features confined to (1) a Gleason score of 6 or less, (2) one or two positive cores per six sextant cores, and (3) 50% or less involvement of any positive

Yoshiyuki Kakehi; Toshiyuki Kamoto; Osamu Ogawa; Tetsuro Kato; Koichiro Akakura; Shin Egawa; Michiyuki Usami; Osamu Maeda; Yoichi Arai; Yoshiteru Sumiyoshi; Yoriaki Kamiryo; Osamu Yoshida

2000-01-01

158

Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features  

Microsoft Academic Search

Background: Merkel cell carcinoma (MCC) is an aggressive skin cancer with a mortality of 33%. Advanced disease at diagnosis is a poor prognostic factor, suggesting that earlier detection may improve outcome. No systematic analysis has been published to define the clinical features that are characteristic of MCC. Objective: We sought to define the clinical characteristics present at diagnosis to identify

Michelle Heath; Natalia Jaimes; Bianca Lemos; Arash Mostaghimi; Linda C. Wang; Pablo F. Penas; Paul Nghiem

159

Spinal cord infarction: MR imaging and clinical features in 16 cases  

Microsoft Academic Search

Spinal cord infarctions are rare and due to heterogeneous etiologies. The aim of the study was to analyze the MR imaging findings and evaluate their correlations with clinical symptoms in ischemic spinal cord lesions. MR images and clinical features of 16 patients (11 male, 5 female) with typical sudden onset of neurological deficits caused by spinal cord ischemia were evaluated.

Stefan Weidauer; Michael Nichtweiss; Heinrich Lanfermann; Friedhelm E. Zanella

2002-01-01

160

Fluent Versus Nonfluent Primary Progressive Aphasia: A Comparison of Clinical and Functional Neuroimaging Features  

ERIC Educational Resources Information Center

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…

Clark, D.G.; Charuvastra, A.; Miller, B.L.; Shapira, J.S.; Mendez, M.F.

2005-01-01

161

Demographic and Clinical Features of Patients With Fibromyalgia Syndrome of Different Settings: A Gender Comparison  

Microsoft Academic Search

BackgroundWell-established gender differences in the clinical picture of fibromyalgia syndrome (FMS) have been suggested. However, studies on gender differences in demographic and clinical features of FMS have contradictory results. Their significance is limited by the small number of patients included and selection bias of single settings.

Winfried Häuser; Hedi Kühn-Becker; Hubertus von Wilmoswky; Margit Settan; Elmar Brähler; Frank Petzke

2011-01-01

162

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

Microsoft Academic Search

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

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

2011-01-01

163

Psychogenic facial movement disorders: clinical features and associated conditions.  

PubMed

The facial phenotype of psychogenic movement disorders has not been fully characterized. Seven tertiary-referral movement disorders centers using a standardized data collection on a computerized database performed a retrospective chart review of psychogenic movement disorders involving the face. Patients with organic forms of facial dystonia or any medical or neurological disorder known to affect facial muscles were excluded. Sixty-one patients fulfilled the inclusion criteria for psychogenic facial movement disorders (91.8% females; age: 37.0 ± 11.3 years). Phasic or tonic muscular spasms resembling dystonia were documented in all patients most commonly involving the lips (60.7%), followed by eyelids (50.8%), perinasal region (16.4%), and forehead (9.8%). The most common pattern consisted of tonic, sustained, lateral, and/or downward protrusion of one side of the lower lip with ipsilateral jaw deviation (84.3%). Ipsi- or contralateral blepharospasm and excessive platysma contraction occurred in isolation or combined with fixed lip dystonia (60.7%). Spasms were reported as painful in 24.6% of cases. Symptom onset was abrupt in most cases (80.3%), with at least 1 precipitating psychological stress or trauma identified in 57.4%. Associated body regions involved included upper limbs (29.5%), neck (16.4%), lower limbs (16.4%), and trunk (4.9%). There were fluctuations in severity and spontaneous exacerbations and remissions (60%). Prevalent comorbidities included depression (38.0%) and tension headache (26.4%). Fixed jaw and/or lip deviation is a characteristic pattern of psychogenic facial movement disorders, occurring in isolation or in combination with other psychogenic movement disorders or other psychogenic features. PMID:23033125

Fasano, Alfonso; Valadas, Anabela; Bhatia, Kailash P; Prashanth, L K; Lang, Anthony E; Munhoz, Renato P; Morgante, Francesca; Tarsy, Daniel; Duker, Andrew P; Girlanda, Paolo; Bentivoglio, Anna Rita; Espay, Alberto J

2012-10-01

164

Psychogenic Facial Movement Disorders: Clinical Features and Associated Conditions  

PubMed Central

The facial phenotype of psychogenic movement disorders has not been fully characterized. Seven tertiary-referral movement disorders centers using a standardized data collection on a computerized database performed a retrospective chart review of psychogenic movement disorders involving the face. Patients with organic forms of facial dystonia or any medical or neurological disorder known to affect facial muscles were excluded. Sixty-one patients fulfilled the inclusion criteria for psychogenic facial movement disorders (91.8% females; age: 37.0 ± 11.3 years). Phasic or tonic muscular spasms resembling dystonia were documented in all patients most commonly involving the lips (60.7%), followed by eyelids (50.8%), perinasal region (16.4%), and forehead (9.8%). The most common pattern consisted of tonic, sustained, lateral, and/or downward protrusion of one side of the lower lip with ipsilateral jaw deviation (84.3%). Ipsi- or contralateral blepharospasm and excessive platysma contraction occurred in isolation or combined with fixed lip dystonia (60.7%). Spasms were reported as painful in 24.6% of cases. Symptom onset was abrupt in most cases (80.3%), with at least 1 precipitating psychological stress or trauma identified in 57.4%. Associated body regions involved included upper limbs (29.5%), neck (16.4%), lower limbs (16.4%), and trunk (4.9%). There were fluctuations in severity and spontaneous exacerbations and remissions (60%). Prevalent comorbidities included depression (38.0%) and tension headache (26.4%). Fixed jaw and/or lip deviation is a characteristic pattern of psychogenic facial movement disorders, occurring in isolation or in combination with other psychogenic movement disorders or other psychogenic features. © 2012 Movement Disorder Society PMID:23033125

Fasano, Alfonso; Valadas, Anabela; Bhatia, Kailash P; Prashanth, LK; Lang, Anthony E; Munhoz, Renato P; Morgante, Francesca; Tarsy, Daniel; Duker, Andrew P; Girlanda, Paolo; Bentivoglio, Anna Rita; Espay, Alberto J

2012-01-01

165

Cirrhosis-associated immune dysfunction: Distinctive features and clinical relevance.  

PubMed

The term cirrhosis-associated immune dysfunction refers to the main syndromic abnormalities of immune function, immunodeficiency and systemic inflammation that are present in cirrhosis. The course of advanced cirrhosis, regardless of its aetiology, is complicated by cirrhosis-associated immune dysfunction and this constitutes the pathophysiological hallmark of an increased susceptibility to bacterial infection, distinctive of the disease. Cirrhosis impairs the homeostatic role of the liver in the systemic immune response. Damage to the reticulo-endothelial system compromises the immune surveillance function of the organ and the reduced hepatic synthesis of proteins, involved in innate immunity and pattern recognition, hinders the bactericidal ability of phagocytic cells. Systemic inflammation, in form of activated circulating immune cells and increased serum levels of pro-inflammatory cytokines, is the result of persistent episodic activation of circulating immune cells from damage-associated molecular patterns, released from necrotic liver cells and, as cirrhosis progresses, from pathogen-associated molecular patterns, released from the leaky gut. Cirrhosis-associated immune dysfunction phenotypes switch from predominantly "pro-inflammatory" to predominantly "immunodeficient" in patients with stable ascitic cirrhosis and in patients with severely decompensated cirrhosis and extra-hepatic organ failure (e.g. acute-on-chronic liver failure), respectively. These cirrhosis-associated immune dysfunction phenotypes represent the extremes of a spectrum of reversible dynamic events that take place during the course of cirrhosis. Systemic inflammation can affect the functions of tissue somatic cells and modify the clinical manifestation of cirrhosis. The best characterized example is the contribution of systemic inflammation to the haemodynamic derangement of cirrhosis, which correlates negatively with prognosis. PMID:25135860

Albillos, Agustín; Lario, Margaret; Alvarez-Mon, Melchor

2014-12-01

166

Clinical features and diagnosis of relapses in leprosy.  

PubMed

1. The definition of relapse as "occurrence of new signs and symptoms of the disease during the period of surveillance or thereafter in a patient who successfully completes an adequate course of multidrug therapy" accommodates the current policy of releasing patients even when there are clinical and bacteriological signs of activity after fixed duration treatment. 2. The predisposing cause of relapse in the persistence of live M. leprae in various tissues in MB leprosy and in the nerve in PB leprosy. 3. The precipitating causes of relapse include (a) inadequate therapy due to miscategorization of MB cases as PB when there are solitary or few MB lesions since skin smear examinations for AFB are not routinely done in PB cases. (b) Previously sulphone treated LL cases inactive for more than two years are not included for MDT. Relapses commonly seen in NLEP units are in such cases. (c) Multiple skin and nerve lesions in PB leprosy. (d) Pregnancy and lactation. (e) Mental depression which downgrades immunity. (f) HIV infection. 4. There may be a change in type on relapsing, PB cases relapsing as MB and MB cases relapsing as PB. 5. Criteria for diagnosis of relapse are: increase in the extent of lesions, infiltration and erythema, fresh skin and nerve lesions, positive skin smears for AFB in previously negative cases; and in bacteriologically positive cases during surveillance, an increase in BI by two logs at any site over the previous BI in two successive examinations. 6. Relapses are but too often diagnosed as reversal reactions inspite of the absence of symptoms and signs of acute inflammation to the detriment of patients; a course of steroid therapy which is administered to these patients on the diagnosis of reversal reaction does not halt the progress of the disease especially in the nerve, resulting in disability. PMID:7622930

Ramu, G

1995-01-01

167

What constitutes clinically significant binge eating? Association between binge features and clinical validators in college-age women†  

PubMed Central

Objective To investigate the association between binge features and clinical validators. Method The Eating Disorder Examination assessed binge features in a sample of 549 college-age women: loss of control (LOC) presence, binge frequency, binge size, indicators of impaired control, and LOC severity. Clinical validators were self-reported clinical impairment and current psychiatric comorbidity, as determined via a semistructured interview. Results Compared with women without LOC, those with LOC had significantly greater odds of reporting clinical impairment and comorbidity (ps < 0.001). Among women with LOC (n = 252), the indicators of impaired control and LOC severity, but not binge size or frequency, were associated with greater odds of reporting clinical impairment and/or comorbidity (ps < 0.05). Discussion Findings confirm that the presence of LOC may be the hallmark feature of binge eating. Further, dimensional ratings about the LOC experience—and possibly the indicators of impaired control—may improve reliable identification of clinically significant binge eating. PMID:23386591

Vannucci, Anna; Theim, Kelly R.; Kass, Andrea E.; Trockel, Mickey; Genkin, Brooke; Rizk, Marianne; Weisman, Hannah; Bailey, Jakki O.; Sinton, Meghan M.; Aspen, Vandana; Wilfley, Denise E.; Taylor, C. Barr

2013-01-01

168

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

169

Concurrent West Nile Virus Infection in Pneumococcal Meningitis: Clinical and MRI Features.  

PubMed

We report the clinical and neuroimaging findings of an immunocompetent patient with concurrent pneumococcal and West Nile virus meningoencephalitis with relapsing clinical course despite a full course of antibiotic treatment. The patient developed acute oculomotor nerve palsy with pupillary involvement and bilateral hearing loss, and delayed right leg monoparesis. We speculate that coexisting bacterial and viral neuroinvasive infections contributed to the unusual clinical and imaging manifestations, and that overwhelming laboratory and clinical features of bacterial meningitis masked the typical features of CNS viral infection. Therefore, atypical presentations of bacterial meningitis should raise a high index of suspicion for coexisting infections, even in immunocompetent patients, and evolving neuroimaging findings may be helpful in substantiating clinical suspicion and guiding further management. PMID:24837618

Szatmary, Gabriella; Arturo Leis, A

2014-05-18

170

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, João

2012-01-01

171

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

E-print Network

of Mars for at least 102 to 104 years. Citation: Metz, J. M., J. P. Grotzinger, D. Mohrig, R. Milliken, B David Mohrig,2 Ralph Milliken,3 Bradford Prather,4 Carlos Pirmez,4 Alfred S. McEwen,5 and Catherine M Melas Chasma, J. Geophys. Res., 114, E10002, doi:10.1029/2009JE003365. 1. Introduction [2] Evidence

Grotzinger, John P.

172

The A3243G tRNALeu(UUR) MELAS mutation causes  

E-print Network

, Montreal, QC H3A 2B4, Canada and 2 Department of Human Genetics, McGill University, Montreal, QC H3A 2B4 translation products remains controversial. We tested this hypothesis in homoplasmic mutant myoblasts isolated (mater- nally inherited diabetes and deafness) (8­10). All A3243G MELAS patients described

Shoubridge, Eric

173

Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy  

PubMed Central

Background and Purpose Centronuclear myopathy (CNM) is characterized by the presence of central nuclei within a large number of muscle fibers. Mutations of the dynamin 2 gene (DNM2) are common causes of autosomal dominant or sporadic CNM. The aim of this study was to characterize the clinical and pathological features of CNM relative to the presence of DNM2 mutations. Methods Six patients with clinical and pathological features of CNM were recruited. Detailed clinical and pathological findings were analyzed according to the presence of DNM2 mutations. Results We detected DNM2 mutations in four of the six sporadic CNM patients, and identified the following distinct clinical and pathological features in those patients with DNM2 mutations: preferential involvement of the distal lower limbs, typical nuclear centralization, and radially distributed sarcoplasmic strands in muscle pathology. In contrast, those without DNM2 mutations exhibited rather diffuse muscular involvement, and nuclear internalization and myofibrillar disorganization were more pronounced features of their muscle pathology. Conclusions These findings suggest the presence of specific features in Korean CNM patients. A detailed clinical and pathological examination of CNM patients would be helpful for molecular genetic analyses of this condition. PMID:24465259

Park, Young-Eun; Choi, Young-Chul; Bae, Jong-Suk; Lee, Chang-Hoon; Kim, Hyang-Suk; Shin, Jin-Hong

2014-01-01

174

Evaluation of features to support safety and quality in general practice clinical software  

PubMed Central

Background Electronic prescribing is now the norm in many countries. We wished to find out if clinical software systems used by general practitioners in Australia include features (functional capabilities and other characteristics) that facilitate improved patient safety and care, with a focus on quality use of medicines. Methods Seven clinical software systems used in general practice were evaluated. Fifty software features that were previously rated as likely to have a high impact on safety and/or quality of care in general practice were tested and are reported here. Results The range of results for the implementation of 50 features across the 7 clinical software systems was as follows: 17-31 features (34-62%) were fully implemented, 9-13 (18-26%) partially implemented, and 9-20 (18-40%) not implemented. Key findings included: Access to evidence based drug and therapeutic information was limited. Decision support for prescribing was available but varied markedly between systems. During prescribing there was potential for medicine mis-selection in some systems, and linking a medicine with its indication was optional. The definition of 'current medicines' versus 'past medicines' was not always clear. There were limited resources for patients, and some medicines lists for patients were suboptimal. Results were provided to the software vendors, who were keen to improve their systems. Conclusions The clinical systems tested lack some of the features expected to support patient safety and quality of care. Standards and certification for clinical software would ensure that safety features are present and that there is a minimum level of clinical functionality that clinicians could expect to find in any system.

2011-01-01

175

Clinical features differentiating patients with postmortem confirmed progressive supranuclear palsy and corticobasal degeneration  

Microsoft Academic Search

Progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) are often clinically confused with each other because\\u000a they share a rapid disease progression, parkinsonism that responds poorly or transiently to levodopa therapy, and associated\\u000a signs (e.g., ocular abnormalities, pyramidal signs and cognitive involvement). To improve the accuracy in diagnosing these\\u000a disorders, this study examined the clinical features of 51 patients pathologically

I. Litvan; D. A. Grimes; A. E. Lang; J. Jankovic; A. McKee; M. Verny; K. Jellinger; K. R. Chaudhuri; R. K. B. Pearce

1999-01-01

176

Combined tricuspid and pulmonic stenosis. Clinical, echocardiographic, hemodynamic, surgical, and pathological features.  

PubMed

A 30-year-old man with a history of a murmur since childhood had progressive ascites for 2 years. The patient was found to have severe stenoses of the pulmonic and tricuspid valves with a well-developed right ventricle. Impressive clinical improvement occurred after pulmonic valvotomy, infundibulectomy, and replacement of the stenotic tricuspid valve with a porcine xenograft. The clinical, echocardiographic, hemodynamic, surgical, and pathological features are presented. PMID:559886

Mehl, S J; Kaltman, A J; Kronzon, I; Dworkin, L; Adams, P; Spencer, F C

1977-07-01

177

Identifying potential clinical syndromes of hepatocellular carcinoma using PSO-based hierarchical feature selection algorithm.  

PubMed

Hepatocellular carcinoma (HCC) is one of the most common malignant tumors. Clinical symptoms attributable to HCC are usually absent, thus often miss the best therapeutic opportunities. Traditional Chinese Medicine (TCM) plays an active role in diagnosis and treatment of HCC. In this paper, we proposed a particle swarm optimization-based hierarchical feature selection (PSOHFS) model to infer potential syndromes for diagnosis of HCC. Firstly, the hierarchical feature representation is developed by a three-layer tree. The clinical symptoms and positive score of patient are leaf nodes and root in the tree, respectively, while each syndrome feature on the middle layer is extracted from a group of symptoms. Secondly, an improved PSO-based algorithm is applied in a new reduced feature space to search an optimal syndrome subset. Based on the result of feature selection, the causal relationships of symptoms and syndromes are inferred via Bayesian networks. In our experiment, 147 symptoms were aggregated into 27 groups and 27 syndrome features were extracted. The proposed approach discovered 24 syndromes which obviously improved the diagnosis accuracy. Finally, the Bayesian approach was applied to represent the causal relationships both at symptom and syndrome levels. The results show that our computational model can facilitate the clinical diagnosis of HCC. PMID:24745007

Ji, Zhiwei; Wang, Bing

2014-01-01

178

Identifying Potential Clinical Syndromes of Hepatocellular Carcinoma Using PSO-Based Hierarchical Feature Selection Algorithm  

PubMed Central

Hepatocellular carcinoma (HCC) is one of the most common malignant tumors. Clinical symptoms attributable to HCC are usually absent, thus often miss the best therapeutic opportunities. Traditional Chinese Medicine (TCM) plays an active role in diagnosis and treatment of HCC. In this paper, we proposed a particle swarm optimization-based hierarchical feature selection (PSOHFS) model to infer potential syndromes for diagnosis of HCC. Firstly, the hierarchical feature representation is developed by a three-layer tree. The clinical symptoms and positive score of patient are leaf nodes and root in the tree, respectively, while each syndrome feature on the middle layer is extracted from a group of symptoms. Secondly, an improved PSO-based algorithm is applied in a new reduced feature space to search an optimal syndrome subset. Based on the result of feature selection, the causal relationships of symptoms and syndromes are inferred via Bayesian networks. In our experiment, 147 symptoms were aggregated into 27 groups and 27 syndrome features were extracted. The proposed approach discovered 24 syndromes which obviously improved the diagnosis accuracy. Finally, the Bayesian approach was applied to represent the causal relationships both at symptom and syndrome levels. The results show that our computational model can facilitate the clinical diagnosis of HCC. PMID:24745007

Ji, Zhiwei; Wang, Bing

2014-01-01

179

Clinical features of early onset, familial Alzheimer`s disease linked to chromosome 14  

SciTech Connect

Early onset familial Alzheimer`s disease (AD) has an autosomal dominant mode of inheritance. Two genes are responsible for the majority of cases of this subtype of AD. Mutations in the {beta}-amyloid precursor protein ({beta}APP) gene on chromosome 21 have been shown to completely cosegregate with the disease. We and others have previously described the clinical features of families with {beta}APP mutations at the codon 717 locus in an attempt to define the phenotype associated with a valine to isoleucine (Val {r_arrow} Ile) or a valine to glycine (Val {r_arrow} Gly) change. More recently, a second locus for very early onset disease has been localized to chromosome 14. The results of linkage studies in some families suggesting linkage to both chromosomes have been explained by the suggestion of a second (centromeric) locus on chromosome 21. Here we report the clinical features and genetic analysis of a British pedigree (F74) with early onset AD in which neither the {beta}APP locus nor any other chromosome 21 locus segregates with the disease, but in which good evidence is seen for linkage on the long arm of chromosome 14. In particular we report marker data suggesting that the chromosome 14 disease locus is close to D14S43 and D14S77. Given the likelihood that F74 represents a chromosome 14 linked family, we describe the clinical features and make a limited clinical comparison with the {beta}APP717 Val {r_arrow} Ile and {beta}APP717 Val {r_arrow} Gly encoded families that have been previously described. We conclude that although several previously reported clinical features occur to excess in early onset familial AD, no single clinical feature demarcates either the chromosome 14 or {beta}APP codon 717 mutated families except mean age of onset. 52 refs., 2 figs., 5 tabs.

Mullan, M.; Bennett, C.; Figueredo, C.; Crawford, F. [Univ. of South Florida, Tampa, FL (United States)] [and others

1995-02-27

180

Clinical and Neuropathological Features of the Arctic APP Gene Mutation Causing Early-Onset Alzheimer Disease  

Microsoft Academic Search

Background: A majority of mutations within the - amyloid region of the amyloid precursor protein (APP) gene cause inherited forms of intracerebral hemor- rhage. Most of these mutations may also cause cognitive impairment, but the Arctic APP mutation is the only known intra--amyloid mutation to date causing the more typical clinical picture of Alzheimer disease. Objective: To describe features of

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

2008-01-01

181

Clinical Features: Patients with Floating Harbor syndrome [OMIM #136140] typically have short stature, delayed osseous  

E-print Network

Activator Protein, Cause Floating Harbor Syndrome." (2012) Am J Hum Genet 90(2): 308-313. 2. White S et al1/13 Clinical Features: Patients with Floating Harbor syndrome [OMIM #136140] typically have short of affected individuals include a triangular shaped face, short philtrum, wide mouth, and a long nose

Ober, Carole

182

Adult onset polymyositis\\/dermatomyositis: clinical and laboratory features and treatment response in 75 patients  

Microsoft Academic Search

OBJECTIVES--To determine possible similarities and differences in clinical and laboratory features and treatment response between patients in Singapore with polymyositis (PM) and dermatomyositis (DM) and reported series. METHODS--Case records of adult patients (16 years old and above) referred to the 3 main electromyographic (EMG) laboratories in Singapore between 1 June 1986 and 31 May 1991 were reviewed if the referring

E T Koh; A Seow; B Ong; P Ratnagopal; H Tjia; H H Chng

1993-01-01

183

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

184

Clinical features and complications of viridans streptococci bloodstream infection in pediatric hemato-oncology patients  

Microsoft Academic Search

Background and Purpose: Viridans streptococci (VS) are part of the normal flora of humans, but are fast emerging as pathogens causing bacteremia in neutropenic patients. The clinical features, outcomes, and antibiotic sus- ceptibilities of VS bloodstream infections in children with hemato-oncological diseases are reported in this study. Methods: A retrospective chart review of pediatric patients (?18 years) diagnosed with VS

Wan-Ting Huang; Luan-Yin Chang; Po-Ren Hsueh; Chun-Yi Lu; Pei-Lan Shao; Fu-Yuan Huang; Ping-Ing Lee; Chun-Ming Chen; Chin-Yun Lee; Li-Min Huang

185

Clinical and histological features of delta infection in chronic hepatitis B virus carriers  

Microsoft Academic Search

One hundred and six consecutive chronic hepatitis B virus (HBV) carriers were studied for the prevalence of delta markers in serum and tissue, and the clinical and histological features of those with and without delta infection were compared. Twenty (18.9%) patients were positive for anti-delta in serum or delta antigen in the liver or both. They presented at a younger

A S Lok; I Lindsay; P J Scheuer; H C Thomas

1985-01-01

186

Subclinical Cushing's Syndrome in Patients with Adrenal Incidentaloma: Clinical and Biochemical Features  

Microsoft Academic Search

Incidentally discovered adrenal masses are mostly benign, asymp- tomatic lesions, often arbitrarily considered as nonfunctioning tu- mors. Recent studies, however, have reported increasing evidence that subtle cortisol production and abnormalities in the hypothalam- ic-pituitary-adrenal (HPA) axis are more frequent than previously thought. The purpose of this study was to investigate the clinical and hormonal features of patients with incidentally discovered

R. Rossi; L. TAUCHMANOVA; A. LUCIANO; M. DI MARTINO; C. BATTISTA; L. DEL VISCOVO; V. NUZZO; G. LOMBARDI

2000-01-01

187

Onychomycosis caused by nondermatophytic molds: Clinical features and response to treatment of 59 cases  

Microsoft Academic Search

Background: Nail invasion by nondermatophytic molds (NDM) is considered uncommon with prevalence rates ranging from 1.45% to 17.6%. Objective: We report the clinical features and response to treatment of onychomycosis caused by these molds. Methods: From 1995 through 1998 we performed a mycologic study on 1548 patients affected by nail disorders, and we diagnosed 431 cases of onychomycosis including 59

Antonella Tosti; Bianca Maria Piraccini; Sandra Lorenzi

2000-01-01

188

n-Hexane Neuropathy Caused by Addictive Inhalation: Clinical and Electrophysiological Features  

Microsoft Academic Search

To assess the clinical and electrophysiological features of n-hexane neuropathy caused by addictive inhalation, 4 patients were studied in the progressive phase. The neurological manifestations were characterized by subacute predominantly motor polyneuropathy and disease progression despite discontinuance of the chemicals, which were similar to those reported in industrial exposure, although with a severer degree associated with anorexia and body weight

Satoshi Kuwabara; Margareth Reiko Kai; Hitoshi Nagase; Takamichi Hattori

1999-01-01

189

Clinical features of the haemorrhage type moyamoya disease based on 31 cases  

Microsoft Academic Search

Summary We evaluated and analysed our own 31 cases of the haemorrhagic type of moyamoya disease to clarify the clinical features of this disease. The cases were divided into three groups. Group A consisted of 12 cases with aneurysms. Aneurysms on the circle of Willis were treated as ordinary saccular aneurysms. Group B consisted of 14 cases with intracerebral haemorrhage

S. Kawaguchi; T. Sakaki; T. Kakizaki; K. Kamada; T. Shimomura; H. Iwanaga

1996-01-01

190

Clinical Features: Angelman and Rett syndrome are neurodevelopmental disorders with significant phenotypic overlap. Classic Rett  

E-print Network

-linked mental retardation (MRX) [4]. ARX encodes a transcription factor expressed primarily in fetal and adult spectrum of X-linked mental retardation syndromes [5]. Clinical features may include intellectual]. Archer et al (2006) identified CDKL5 mutations in 7/42 (17%) of females with severe mental retardation

Stephens, Matthew

191

Clinical expression and EEG features of patients with juvenile myoclonic epilepsy (JME) from North India  

Microsoft Academic Search

We aimed to characterize the clinical profile, EEG features and response to treatment of juvenile myoclonic epilepsy (JME) patients. We studied 103 JME probands with a standard protocol recording age of onset, type, frequency of seizures, EEG data, detailed family history and response to treatment in a superspeciality university hospital in New Delhi. The mean age of onset of disease

M. M Mehndiratta; P Aggarwal

2002-01-01

192

Clinical Features and Surgical Results of Cervical Myelopathy Caused by Soft Disc Herniation  

PubMed Central

Objective There are many causes of cervical myelopathy including trauma, degenerative conditions, tumors and demyelinating disorders. However, myelopathy caused by soft disc herniation might be seen rarely than the spondylosis caused by hard disc. Here, authors retrospectively analyzed the clinical features and results of cervical myelopathy caused by soft disc herniation. Methods From March 2010 to December 2010, 134 patients with degenerative cervical spinal disease were treated with anterior cervical discectomy and interbody fusion. Among them, 21 patients with cervical myelopathy secondary to cervical soft disc herniation were analyzed. Their clinical features, preoperative and, postoperative clinical results were evaluated by Nurick Grade and Japanese Orthopaedic Association scale (JOA) retrospectively. Preoperative clinical features including duration of myelopathy, pain intensity and postoperative clinical results including improvement rate of myelopathy and radiculopathy were retrospectively analyzed by Nurick Grade and JOA scale. We also evaluated correlation between the duration of symptom, type of the disc herniation, pain intensity and clinical outcome. Results Mean age was 49.7 and male was predominant. Gait disturbance with mild to moderate pain was most common symptom in clinical features. Severe pain was shown in only 9 cases, and the other 12 cases experienced mild to moderate pain. Mean duration of myelopathy was 1.18 month. The mean JOA scores were 11.22 before surgery and 14.2 after surgery. The mean Nurick grades were 2.78 before treatment and 1.67 after treatment. Neurologic status of mild or moderate pain group on preoperative state is worse than that of severe pain group. The patients with duration of myelopathy symptom (<1 month) showed lower clinical improvement rate than the patients with myelopathy over 1 month. Patients with median type of disc herniation showed poorer neurological status than those with paramedian type of herniation in preoperative state. Conclusion Authors reviewed the clinical features and surgical outcome of the cervical myelopathy secondary to cervical soft disc herniation. We presumed that patients of more than one month of symptom duration, mild to moderate initial symptom would be related with better postoperative improvement rate. PMID:24757475

Park, Sung Joo; Kim, Min Ki; Lee, Sung Ho; Oh, In Ho

2013-01-01

193

Selective protein index and clinical features of childhood nephrotic syndrome in Kampala.  

PubMed

A cross sectional study was carried out to determine Selective Protein Index (SPI) and relate it to some clinical features that might be useful in deciding on the treatment of children with the nephrotic syndrome in four hospitals in Kampala, Uganda. Radial immunodiffusion technique in commercially prepared plates was used for the determination of SPI. High selective protein index was found in 23 out of 60(38%) and low selective protein index was found in 37 out of 60(62%) of the patients studied. In patients who were not on antihypertensive or diuretic therapy, the clinical features found to be significantly associated with high Selective Protein Index (SPI) were: normal blood pressure and generalised oedema. When these features occurred together in a patient, their positive predictive value for high SPI was found to be 71%. Normal blood pressure and generalised oedema appear to be the clinical features that may be used in combination to select children with nephrotic syndrome who are likely to have high Selective Protein Index and therefore to respond to steroid therapy. PMID:9299817

Odiit, A; Tindyebwa, D

1997-04-01

194

Association of haptoglobin phenotypes with clinical features of preterm labor disease.  

PubMed

Preterm birth means the birth before thirty seven week of pregnancy that causes a lot of complications for the baby. Variety factors are suggested to be involved in disease. In this study, we decided to evaluate haptoglobin (Hp) phenotypes association with clinical features of patients suffered from premature delivery to understand better the possible correlation of genetic and clinical features in this disease. This cross sectional analytic descriptive study has been carried out in two groups of 120 women, 60 with preterm and 60 with term labor. Patients were selected with previously diagnosed by a gynecologist with preterm birth in hospital during the study period. After performing diagnostic tests, the frequency of each haptoglobin phenotype in the two groups was analyzed using the X2 test and SPSS software. The maximum serum haptoglobin phenotype frequency in patients with Hp2-2, was 43 (71.7%) whereas in healthy individuals, 35 (58.3%). No statistically significant differences between the two groups was found (P=0.310). But based on some patients clinical features such as their history of preterm delivery, previous history of recurrent abortions and history of preterm delivery in their family, significant association was found with Hp2-2 compared with healthy control (P<0.003). This study showed that Hp2-2 phenotypes levels in the case group was higher than in control but the factors influencing the presence or absence of preterm labor is clinically various. PMID:24026993

Khazaei, Hossein Ali; Teymuri, Batoul; Nakhaei, Alireza; Mohammadi, Mehdi; Noura, Mehrangeez; Khazaei, Amin; Tofiqh, Neda; Rezaei, Nima

2013-01-01

195

Evaluation of haptoglobin phenotypes in association with clinical features of patients suffered from preterm labor disease.  

PubMed

Preterm birth means the birth before thirty seven week of pregnancy that causes a lot of complications for the baby. Variety factors are suggested to be involved in disease. In this study, we decided to evaluate haptoglobin (Hp) phenotypes association with clinical features of patients suffered from premature delivery to understand better the possible correlation of genetic and clinical features in this disease. This cross-sectional analytic descriptive study has been carried out in two groups of 120 women, 60 with preterm and 60 with term labor. Patients were selected with previously diagnosed by gynecologist with preterm birth in the labor during the study period. After performing diagnostic tests, the frequency of each haptoglobin phenotype in the two groups was analyzed using the Chi-square test (X2) test and SPSS software. The maximum serum haptoglobin phenotype frequency in patients with Hp2-2, was 43 (71.7%) whereas in healthy individuals, 35 (58.3%). No, statistically significant differences between the two groups were found (p=0.310). But based on some patients clinical features such as their history of preterm delivery, previous history of recurrent abortions and history of preterm delivery in their family, significant association was found with Hp2-2 compared with healthy control (p<0.003). This study showed that Hp2-2 phenotypes levels in the case group was higher than in control but the factors influencing the presence or absence of preterm labor is clinically various. PMID:24659066

Khazaei, Hossein Ali; Teymuri, Batoul; Nakhaei, Alireza; Mohammadi, Mehdi; Noura, Mehrangeez; Khazaei, Amin; Tofigh, Neda; Rezaei, Nima

2014-01-01

196

Clinical and histological features of brucellin skin test responses in Brucella suis biovar 2 infected pigs.  

PubMed

Current serological tests for swine brucellosis detect antibodies to the Brucella O-polysaccharide (O/PS). However, when infections by bacteria carrying cross-reacting O/PS occur, these tests suffer from false positive serological reactions (FPSR), and the skin test with Brucella soluble protein extracts is the best diagnostic alternative to differentiate true Brucella suis infections from FPSR in pigs. Since this test has been seldom used in B. suis infected swine, the clinical and histological features involved have not been described properly. Here, we describe the clinical and histological events in B. suis biovar 2 infected pigs skin tested with a cytosoluble O/PS free protein extract from rough Brucella abortus Tn5::per mutant. A similar extract from rough Ochrobactrum intermedium was also used for comparative purposes. No relevant differences were evidenced between the homologous and heterologous allergens, and the main clinical feature was an elevated area of the skin showing different induration degrees. Moreover, an important vascular reaction with hyperemia and haemorrhage was produced in most infected sows 24-48h after inoculation, thus facilitating the clinical interpretation of positive reactions. Histologically, combined immediate (type III) and delayed (type IV) hypersensitivity reactions were identified as the most relevant feature of the inflammatory responses produced. PMID:25480681

Dieste-Pérez, L; Barberán, M; Muñoz, P M; Moriyón, I; Blasco, J M

2015-01-15

197

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

198

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

199

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

200

[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

201

Clinical, Etiologic, and Histopathologic Features of Stevens-Johnson Syndrome During an 8-Year Period at Mayo Clinic  

PubMed Central

OBJECTIVE: To examine clinical, etiologic, and histologic features of Stevens-Johnson syndrome and to identify possible correlates of clinical disease severity related to etiologic and histopathologic findings. PATIENTS AND METHODS: This is a retrospective review of patients seen at Mayo Clinic between January 1, 2000, and December 31, 2007. RESULTS: Of 27 patients (mean age, 28.1 years), 22 (81%) had involvement of 2 or more mucous membranes, and 19 (70%) had ocular involvement. Medications, most commonly antibiotics and anticonvulsants, were causative in 20 patients. Mycoplasma pneumoniae infection caused 6 of the 27 cases. Corticosteroids were the most common systemic therapy. No patients with mycoplasma-induced Stevens-Johnson syndrome had internal organ involvement or required treatment in the intensive care unit, in contrast to 4 patients each in the drug-induced group. Three patients had chronic ocular sequelae, and 1 died of complications. Biopsy specimens from 13 patients (48%) showed epidermal necrosis (8 patients), basal vacuolar change (10 patients), and subepidermal bullae (10 patients). Biopsy specimens from 11 patients displayed moderate or dense dermal infiltrate. Histologic features in drug-induced cases included individual necrotic keratinocytes, dense dermal infiltrate, red blood cell extravasation, pigment incontinence, parakeratosis, and substantial eosinophils or neutrophils. CONCLUSION: Our clinical and etiologic findings corroborate those in previous reports. M pneumoniae—induced Stevens-Johnson syndrome manifested less severely than its drug-induced counterpart. The limited number of biopsies precludes unequivocal demonstration of histopathologic differences between drug-induced and M pneumoniae—induced Stevens-Johnson syndrome. PMID:20118388

Wetter, David A.; Camilleri, Michael J.

2010-01-01

202

Differences in Clinical Features According to Boryoung and Karp Genotypes of Orientia tsutsugamushi  

PubMed Central

Background Scrub typhus is an infectious disease caused by Orientia tsutsugamushi. The differences in virulence of O. tsutsugamushi prototypes in humans are still unknown. We investigated whether there are any differences in the clinical features of the Boryoung and Karp genotypes. Methodology/Principal Findings Patients infected with O. tsutsugamushi, as Boryoung and Karp clusters, who had visited 6 different hospitals in southwestern Korea were prospectively compared for clinical features, complications, laboratory parameters, and treatment responses. Infected patients in the Boryoung cluster had significantly more generalized weakness, eschars, skin rashes, conjunctival injection, high albumin levels, and greater ESR and fibrinogen levels compared to the Karp cluster. The treatment response to current antibiotics was significantly slower in the Karp cluster as compared to the Boryoung cluster. Conclusion The frequency of occurrence of eschars and rashes may depend on the genotype of O. tsutsugamushi. PMID:21857951

Yun, Na Ra; Neupane, Ganesh Prasad; Shin, Sung Heui; Ryu, So Yeon; Wie, Seong Heon; Kim, Woo Jin; Lee, Chang Youl; Choi, Jong Soo; Yang, Tae Young

2011-01-01

203

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features.  

PubMed

An expanded hexanucleotide repeat in the C9ORF72 gene has recently been identified as a major cause of familial frontotemporal lobar degeneration and motor neuron disease, including cases previously identified as linked to chromosome 9. Here we present a detailed retrospective clinical, neuroimaging and histopathological analysis of a C9ORF72 mutation case series in relation to other forms of genetically determined frontotemporal lobar degeneration ascertained at a specialist centre. Eighteen probands (19 cases in total) were identified, representing 35% of frontotemporal lobar degeneration cases with identified mutations, 36% of cases with clinical evidence of motor neuron disease and 7% of the entire cohort. Thirty-three per cent of these C9ORF72 cases had no identified relevant family history. Families showed wide variation in clinical onset (43-68 years) and duration (1.7-22 years). The most common presenting syndrome (comprising a half of cases) was behavioural variant frontotemporal dementia, however, there was substantial clinical heterogeneity across the C9ORF72 mutation cohort. Sixty per cent of cases developed clinical features consistent with motor neuron disease during the period of follow-up. Anxiety and agitation and memory impairment were prominent features (between a half to two-thirds of cases), and dominant parietal dysfunction was also frequent. Affected individuals showed variable magnetic resonance imaging findings; however, relative to healthy controls, the group as a whole showed extensive thinning of frontal, temporal and parietal cortices, subcortical grey matter atrophy including thalamus and cerebellum and involvement of long intrahemispheric, commissural and corticospinal tracts. The neuroimaging profile of the C9ORF72 expansion was significantly more symmetrical than progranulin mutations with significantly less temporal lobe involvement than microtubule-associated protein tau mutations. Neuropathological examination in six cases with C9ORF72 mutation from the frontotemporal lobar degeneration series identified histomorphological features consistent with either type A or B TAR DNA-binding protein-43 deposition; however, p62-positive (in excess of TAR DNA-binding protein-43 positive) neuronal cytoplasmic inclusions in hippocampus and cerebellum were a consistent feature of these cases, in contrast to the similar frequency of p62 and TAR DNA-binding protein-43 deposition in 53 control cases with frontotemporal lobar degeneration-TAR DNA-binding protein. These findings corroborate the clinical importance of the C9ORF72 mutation in frontotemporal lobar degeneration, delineate phenotypic and neuropathological features that could help to guide genetic testing, and suggest hypotheses for elucidating the neurobiology of a culprit subcortical network. PMID:22366791

Mahoney, Colin J; Beck, Jon; Rohrer, Jonathan D; Lashley, Tammaryn; Mok, Kin; Shakespeare, Tim; Yeatman, Tom; Warrington, Elizabeth K; Schott, Jonathan M; Fox, Nick C; Rossor, Martin N; Hardy, John; Collinge, John; Revesz, Tamas; Mead, Simon; Warren, Jason D

2012-03-01

204

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

205

Congenital brain tumors in Japan (ISPN Cooperative Study): specific clinical features in neonates  

Microsoft Academic Search

The authors present specific clinical features of brain tumors occurring in immature brain in comparison with those of older infants and children. Twenty-six neonatal brain tumors, which accounted for 11.3% of 231 brain tumors diagnosed in the 1st year of life collected in a cooperative study in Japan, were analyzed. Although astrocytomas were invariably common tumors in each age group,

S. Oi; T. Kokunai; S. Matsumoto

1990-01-01

206

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

207

Amebiasis in HIV1Infected Japanese Men: Clinical Features and Response to Therapy  

Microsoft Academic Search

Invasive amebic diseases caused by Entamoeba histolytica are increasing among men who have sex with men and co-infection of ameba and HIV-1 is an emerging problem in developed East Asian countries. To characterize the clinical and epidemiological features of invasive amebiasis in HIV-1 patients, the medical records of 170 co-infected cases were analyzed retrospectively, and E. histolytica genotype was assayed

Koji Watanabe; Hiroyuki Gatanaga; Aleyla Escueta-de Cadiz; Junko Tanuma; Tomoyoshi Nozaki; Shinichi Oka

2011-01-01

208

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

209

Clinical Features of Childhood Primary Ciliary Dyskinesia By Genotype and Ultrastructural Phenotype.  

PubMed

Rationale: The relationship between clinical phenotype of childhood primary ciliary dyskinesia (PCD) and ultrastructural defects and genotype is poorly defined. Objectives: To delineate clinical features of childhood PCD and their associations with ultrastructural defects and genotype. Methods and Measurements: 118 participants <19 years old with PCD were evaluated prospectively at 6 centers in North America using standardized procedures for diagnostic testing, spirometry, chest computed tomography, respiratory cultures, and clinical phenotyping. Main Results: Clinical features included neonatal respiratory distress (82%), chronic cough (99%), and chronic nasal congestion (97%). There were no differences in clinical features or respiratory pathogens in subjects with outer dynein arm (ODA) defects (ODA alone, n=54) and ODA plus inner dynein arm (IDA) defects (ODA+IDA; n=18) versus subjects with IDA and central apparatus defects with microtubular disorganization (IDA/CA/MTD; n=40). Median FEV1 was worse in the IDA/CA/MTD group (72% predicted) versus the combined ODA groups (92% predicted; p=0.003). Median BMI was lower in the IDA/CA/MTD group (46th percentile) versus the ODA groups (70th percentile; p=0.003). For all 118 subjects, median number of lobes with bronchiectasis was 3 and alveolar consolidation was 2. However, the 5-11 year old IDA/CA/MTD group had more lobes of bronchiectasis (median= 5, p=0.0008) and consolidation (median=3, p=0.0001) compared to the ODA groups (median=3 and 2, respectively). Similar findings were observed when limited to participants with biallelic mutations. Conclusions: Lung disease was heterogeneous across all ultrastructural and genotype groups, but worse in those with IDA/CA/MTD ultrastructural defects, most of whom had biallelic mutations in CCDC39 or CCDC40. PMID:25493340

Davis, Stephanie D; Ferkol, Thomas W; Rosenfeld, Margaret; Lee, Hye-Seung; Dell, Sharon D; Sagel, Scott D; Milla, Carlos; Zariwala, Maimoona A; Pittman, Jessica E; Shapiro, Adam J; Carson, Johnny L; Krischer, Jeffrey P; Hazucha, Milan J; Cooper, Matthew L; Knowles, Michael R; Leigh, Margaret W

2014-12-10

210

Solitary rectal ulcer syndrome: Clinical features, pathophysiology, diagnosis and treatment strategies  

PubMed Central

Solitary rectal ulcer syndrome (SRUS) is an uncommon benign disease, characterized by a combination of symptoms, clinical findings and histological abnormalities. Ulcers are only found in 40% of the patients; 20% of the patients have a solitary ulcer, and the rest of the lesions vary in shape and size, from hyperemic mucosa to broad-based polypoid. Men and women are affected equally, with a small predominance in women. SRUS has also been described in children and in the geriatric population. Clinical features include rectal bleeding, copious mucus discharge, prolonged excessive straining, perineal and abdominal pain, feeling of incomplete defecation, constipation, and rarely, rectal prolapse. This disease has well-described histopathological features such as obliteration of the lamina propria by fibrosis and smooth muscle fibers extending from a thickened muscularis mucosa to the lumen. Diffuse collage deposition in the lamina propria and abnormal smooth muscle fiber extensions are sensitive markers for differentiating SRUS from other conditions. However, the etiology remains obscure, and the condition is frequently associated with pelvic floor disorders. SRUS is difficult to treat, and various treatment strategies have been advocated, ranging from conservative management to a variety of surgical procedures. The aim of the present review is to summarize the clinical features, pathophysiology, diagnostic methods and treatment strategies associated with SRUS. PMID:24574747

Zhu, Qing-Chao; Shen, Rong-Rong; Qin, Huan-Long; Wang, Yu

2014-01-01

211

Clinical features of nine males with molecularly defined deletions of the Y chromosome long arm.  

PubMed Central

Deletions of the long arm of the Y chromosome have previously been associated with azoospermia and short stature. We report the results of a detailed clinical and molecular study of nine males with partial deletions of Yq. Special emphasis was laid on congenital anomalies and dysmorphic features. Some of the patients have developmental problems or distinct facial features, namely a small chin and mouth, a high arched or cleft palate, downward slanting palpebral fissures, high nasal bridge, and dysmorphic ears. As far as we know, similar facial dysmorphism has not been previously described in association with del(Yq). These features are not, however, simply correlated to the size of the deletion. In none of these patients could evidence of aberrant Xq-Yq interchange be found. Images PMID:8544191

Salo, P; Ignatius, J; Simola, K O; Tahvanainen, E; Kääriäinen, H

1995-01-01

212

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

PubMed

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, Fabrício Mesquita; Lopes, Marcio Ajudarte; Zaia, Alexandre Augusto; Coletta, Ricardo Della

2014-03-16

213

Fractographic features of glass-ceramic and zirconia-based dental restorations fractured during clinical function.  

PubMed

Fractures during clinical function have been reported as the major concern associated with all-ceramic dental restorations. The aim of this study was to analyze the fracture features of glass-ceramic and zirconia-based restorations fractured during clinical use. Twenty-seven crowns and onlays were supplied by dentists and dental technicians with information about type of cement and time in function, if available. Fourteen lithium disilicate glass-ceramic restorations and 13 zirconia-based restorations were retrieved and analyzed. Fractographic features were examined using optical microscopy to determine crack initiation and crack propagation of the restorations. The material comprised fractured restorations from one canine, 10 incisors, four premolars, and 11 molars. One crown was not categorized because of difficulty in orientation of the fragments. The results revealed that all core and veneer fractures initiated in the cervical margin and usually from the approximal area close to the most coronally placed curvature of the margin. Three cases of occlusal chipping were found. The margin of dental all-ceramic single-tooth restorations was the area of fracture origin. The fracture features were similar for zirconia, glass-ceramic, and alumina single-tooth restorations. Design features seem to be of great importance for fracture initiation. PMID:24698173

Oilo, Marit; Hardang, Anne D; Ulsund, Amanda H; Gjerdet, Nils R

2014-06-01

214

Fractographic features of glass-ceramic and zirconia-based dental restorations fractured during clinical function  

PubMed Central

Fractures during clinical function have been reported as the major concern associated with all-ceramic dental restorations. The aim of this study was to analyze the fracture features of glass-ceramic and zirconia-based restorations fractured during clinical use. Twenty-seven crowns and onlays were supplied by dentists and dental technicians with information about type of cement and time in function, if available. Fourteen lithium disilicate glass-ceramic restorations and 13 zirconia-based restorations were retrieved and analyzed. Fractographic features were examined using optical microscopy to determine crack initiation and crack propagation of the restorations. The material comprised fractured restorations from one canine, 10 incisors, four premolars, and 11 molars. One crown was not categorized because of difficulty in orientation of the fragments. The results revealed that all core and veneer fractures initiated in the cervical margin and usually from the approximal area close to the most coronally placed curvature of the margin. Three cases of occlusal chipping were found. The margin of dental all-ceramic single-tooth restorations was the area of fracture origin. The fracture features were similar for zirconia, glass-ceramic, and alumina single-tooth restorations. Design features seem to be of great importance for fracture initiation. PMID:24698173

Øilo, Marit; Hardang, Anne D; Ulsund, Amanda H; Gjerdet, Nils R

2014-01-01

215

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. PMID:25309906

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

2014-01-01

216

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-? immunity.  

PubMed

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG vaccines and environmental mycobacteria, in otherwise healthy individuals with no overt abnormalities in routine hematological and immunological tests. MSMD designation does not recapitulate all the clinical features, as patients are also prone to salmonellosis, candidiasis and tuberculosis, and more rarely to infections with other intramacrophagic bacteria, fungi, or parasites, and even, perhaps, a few viruses. Since 1996, nine MSMD-causing genes, including seven autosomal (IFNGR1, IFNGR2, STAT1, IL12B, IL12RB1, ISG15, and IRF8) and two X-linked (NEMO, and CYBB) genes have been discovered. The high level of allelic heterogeneity has already led to the definition of 18 different disorders. The nine gene products are physiologically related, as all are involved in IFN-?-dependent immunity. These disorders impair the production of (IL12B, IL12RB1, IRF8, ISG15, NEMO) or the response to (IFNGR1, IFNGR2, STAT1, IRF8, CYBB) IFN-?. These defects account for only about half the known MSMD cases. Patients with MSMD-causing genetic defects may display other infectious diseases, or even remain asymptomatic. Most of these inborn errors do not show complete clinical penetrance for the case-definition phenotype of MSMD. We review here the genetic, immunological, and clinical features of patients with inborn errors of IFN-?-dependent immunity. PMID:25453225

Bustamante, Jacinta; Boisson-Dupuis, Stéphanie; Abel, Laurent; Casanova, Jean-Laurent

2014-12-01

217

Clinical features, developmental course, and psychiatric comorbidity of adult autism spectrum disorders.  

PubMed

Autism spectrum disorders (ASDs) include a heterogeneous group of neurodevelopmental disorders with early onset in childhood. ASDs should be considered lifelong clinical entities, although there is a certain variability in developmental trajectories, and therefore should be considered of great interest also for adulthood psychiatrists. A few studies have been carried out to explore the clinical picture and course development of these disorders during adulthood, or their relationship with other mental disorders. Indeed, ASDs often share overlapping features with other disorders, such as schizophrenia and obsessive-compulsive, mood, and personality disorders, and as a result misdiagnoses often occur. The aim of this review is to summarize the available literature on ASDs in adulthood with a specific focus on the clinical picture, course, and psychiatric comorbidity. It is proposed that a careful diagnostic screening for ASDs in adults would contribute to clarifying the relationship with comorbid psychiatric disorders, while improving the possibility of treatment and outcome of such conditions. PMID:24352005

Vannucchi, Giulia; Masi, Gabriele; Toni, Cristina; Dell'Osso, Liliana; Marazziti, Donatella; Perugi, Giulio

2014-04-01

218

Clinical and Pathological Features of Lipoleiomyoma of the Uterine Corpus: A Review of 76 Cases  

PubMed Central

Background: Uterine lipoleiomyoma is a rare and specific type of leiomyoma with a considerable amount of adipocytes. Aims: The aim of the study was to investigate the clinical, pathological and immunohistochemical features of lipoleiomyoma of the uterine corpus, and review its histogenesis and differential diagnosis from other neoplastic and non-neoplastic lesions in order to obtain a detailed profile of this somewhat uncommon lesion. Study Design: Descriptive study. Methods: This study is a retrospective analysis of 70 consecutive women with 76 lipoleiomyomas, who underwent surgery mainly for uterine leiomyoma and gynecological carcinomas between January 2000 and April 2013. Clinical and pathological information was obtained from medical records. Immunohistochemistry was applied in selected cases. Parametric methods were used to compare clinical and pathologic features. Results: The patients ranged in age from 34 to 77 years (mean 55.49 years). Lipoleiomyomas ranged from 0.5 to 55 cm in diameter (mean 5.50 cm). Typical macroscopic and microscopic features were noted. Sixty-nine (90.7%) tumors were in the uterine corpus and five (6.5%) were in the cervix. One broad ligament tumor and one retroperitoneal tumor were also studied. No tumors displayed cytologic atypia, mitosis, necrosis, calcification, or other degenerative changes. Immunohistochemically, the adipose tissue element was positive for vimentin, desmin, S100 protein, estrogen (ER), progesterone (PR), and Ki-67. Among patients with lipoleiomyomas, 53 cases (75.7%) had different types of lesions associated with hyperestrogenic status, such as adenomyosis, endometriosis, endometrial hyperplasia, and polyps, complex atypical endometrial hyperplasia, and gynecologic carcinomas. The follow-up period ranged from one to eight years (mean 4.6 years). There were no recurrences or tumor-related fatalities. Conclusion: In the present study, the lipoleiomyomas were seen more frequently in patients with adenomyosis, endometriosis, endometrial hyperplasia, polyps, and various gynecologic carcinomas. Lipoleiomyoma of the uterus seems to have a benign clinical course.

Akbulut, Metin; Gündo?an, Mehmet; Yörüko?lu, Aygün

2014-01-01

219

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

220

Acanthamoeba, fungal, and bacterial keratitis: a comparison of risk factors and clinical features  

PubMed Central

Purpose To determine risk factors and clinical signs that may differentiate between bacterial, fungal, and acanthamoeba keratitis among patients presenting with presumed infectious keratitis. Design Hospital-based cross-sectional study. Methods We examined the medical records of 115 patients with laboratory-proven bacterial keratitis, 115 patients with laboratory-proven fungal keratitis, and 115 patients with laboratory-proven acanthamoeba keratitis seen at Aravind Eye Hospital, Madurai, India, from 2006–2011. Risk factors and clinical features of the three organisms were compared using multinomial logistic regression. Results Of 95 patients with bacterial keratitis, 103 patients with fungal keratitis, and 93 patients with acanthamoeba keratitis who had medical records available for review, 287 (99%) did not wear contact lenses. Differentiating features were more common for acanthamoeba keratitis than for bacterial or fungal keratitis. Compared to patients with bacterial or fungal keratitis, patients with acanthamoeba keratitis were more likely to be younger and to have a longer duration of symptoms, and to have a ring infiltrate or disease confined to the epithelium. Conclusions Risk factors and clinical examination findings can be useful for differentiating acanthamoeba keratitis from bacterial and fungal keratitis. PMID:24200232

Mascarenhas, Jeena; Lalitha, Prajna; Prajna, N. Venkatesh; Srinivasan, Muthiah; Das, Manoranjan; D’Silva, Sean S.; Oldenburg, Catherine E.; Borkar, Durga S.; Esterberg, Elizabeth J.; Lietman, Thomas M.; Keenan, Jeremy D.

2013-01-01

221

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

222

Clinical features of dysthyroid optic neuropathy: a European Group on Graves' Orbitopathy (EUGOGO) survey  

PubMed Central

Background This study was performed to determine clinical features of dysthyroid optic neuropathy (DON) across Europe. Methods Forty seven patients with DON presented to seven European centres during one year. Local protocols for thyroid status, ophthalmic examination and further investigation were used. Each eye was classified as having definite, equivocal, or no DON. Results Graves' hyperthyroidism occurred in the majority; 20% had received radioiodine. Of 94 eyes, 55 had definite and 17 equivocal DON. Median Clinical Activity Score was 4/7 but 25% scored 3 or less, indicating severe inflammation was not essential. Best corrected visual acuity was 6/9 (Snellen) or worse in 75% of DON eyes. Colour vision was reduced in 33 eyes, of which all but one had DON. Half of the DON eyes had normal optic disc appearance. In DON eyes proptosis was > 21?mm (significant) in 66% and visual fields abnormal in 71%. Orbital imaging showed apical muscle crowding in 88% of DON patients. Optic nerve stretch and fat prolapse were infrequently reported. Conclusion Patients with DON may not have severe proptosis and orbital inflammation. Optic disc swelling, impaired colour vision and radiological evidence of apical optic nerve compression are the most useful clinical features in this series. PMID:17035276

McKeag, David; Lane, Carol; Lazarus, John H; Baldeschi, Lelio; Boboridis, Kostas; Dickinson, A Jane; Hullo, A Iain; Kahaly, George; Krassas, Gerry; Marcocci, Claudio; Marinò, Michele; Mourits, Maarten P; Nardi, Marco; Neoh, Christopher; Orgiazzi, Jacques; Perros, Petros; Pinchera, Aldo; Pitz, Susanne; Prummel, Mark F; Sartini, Maria S; Wiersinga, Wilmar M

2007-01-01

223

[Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child].  

PubMed

This study aimed to report the clinical characteristics and COMP gene mutation of a family with pseudoachondroplasia (PSACH), a relatively rare spinal and epiphyseal dysplasia that is inherited as an autosomal dominant trait. Clinical information on a 5-year-2-month-old PSACH child and his parents was collected and analyzed. Diagnosis was confirmed by PCR amplification and direct sequencing of all the 19 exons and their flanking sequences of COMP gene, and the mutation was further ascertained by cloning analysis of exon 10. The child presented with short and stubby fingers, bow leg, short limb dwarfism and metaphysic broadening in long bone as well as lumbar lordosis. A mutation c.1048_1116del (p.Asn350_Asp372del) in exon 10, inherited from his father who did not demonstrate any phenotypic feature of PSACH, was detected in the child. PSACH was diagnosed definitively by means of COMP mutation analysis, on the basis of the child's clinical and imaging features. The non-penetrance phenomenon of COMP mutation was described for the first time in PSACH. PMID:24229584

Lu, Chun-Ting; Guo, Li; Zahng, Zhan-Hui; Lin, Wei-Xia; Song, Yuan-Zong; Feng, Lie

2013-11-01

224

Dermoscopic features of clinically inflammatory dermatoses and their correlation with histopathologic reaction patterns.  

PubMed

Dermoscopy can be used in diagnosis of some chronic inflammatory dermatoses. In this study, the single most recent, fully developed lesion in 74 patients with clinically inflammatory dermatoses was examined dermoscopically and correlated histopathologically with psoriasiform, lichenoid, or spongiotic reaction patterns. Vascular component (morphology and arrangement) was the most prominent feature in the studied patterns mostly in the shape of dots (45 specimens, 60.8 %), globules (30 specimens, 40.5 %), and lines (45 specimens, 60.8 %). Psoriasiform pattern showed vascular dots (20 specimens, 76.92 %), and/or red globules (15 specimen, 57.69 %), regularly distributed (17 specimens, 65.38 %), on intense red background (15 specimens, 57.69 %), and diffuse (13 specimens, 50 %) white scales (18 specimen, 69.23 %), with probability of these features together 100 %. Lichenoid pattern showed red lines (23 cases, 65.71 %), on dull or light red background (14 cases, 40 % for each), with discolored areas (15 cases, 42.86 %), brown reticular pigmentation (21 cases, 60 %), and white scales (13 cases, 37.14 %). Spongiotic pattern was characterized by follicular component and diffuse or peripheral scale distribution, with probability of both features together 100 %. The main histopathologic features of inflammatory dermatoses, which influenced their dermoscopic patterns, are depth and size of vessels, presence and shape of epidermal hyperplasia, presence of spongiosis, and degree of dermal inflammation and oedema. These features influenced vascular morphology and distribution, corneal component, and background color. Among the studied reaction patterns, psoriasiform pattern showed the most consistent correlation with dermoscopic features. Dermoscopic picture of lichenoid reaction was the most contradictory. Spongiotic reaction showed absent specific vascular component. PMID:25297393

Goncharova, Yana; Attia, Enas A S; Souid, Khawla; Protzenko, Oleg; Koktishev, Igor

2015-01-01

225

Clinical features and endocrine profile of Laron syndrome in Indian children  

PubMed Central

Introduction: Patients with growth hormone (GH) insensitivity (also known as Laron syndome) have been reported from the Mediterranean region and Southern Eucador, with few case reports from India. We present here the clinical and endocrine profile of 9 children with Laron syndrome from India. Material and Methods: Nine children diagnosed with Laron syndrome based on clinical features of GH deficiency and biochemical profile suggestive of GH resistance were studied over a period of 5 years from January 2008 to January 2013. Results and Discussion: Age of presentation was between 2.5-11.5 years. All children were considerably short on contemporary Indian charts with mean (SD) height Z score -5.2 (1.6). However, they were within ± 2 SD on Laron charts. No child was overweight [mean (SD) BMI Z score 0.92 (1.1)]. All children had characteristic facies of GH deficiency with an added feature of prominent eyes. Three boys had micropenis and 1 had unilateral undescended testis. All children had low IGF-1 (<5 percentile) and IGFP-3 (<0.1 percentile) with high basal and stimulated GH [Basal GH mean (SD) = 13.78 (12.75) ng/ml, 1-h stimulated GH mean (SD) = 46.29 (25.68) ng/ml]. All children showed poor response to IGF generation test. Conclusion: Laron syndrome should be suspected in children with clinical features of GH deficiency, high GH levels and low IGF-1/IGFBP-3. These children are in a state of GH resistance and need IGF-1 therapy. PMID:25364685

Phanse-Gupte, Supriya R.; Khadilkar, Vaman V.; Khadilkar, Anuradha V.

2014-01-01

226

The hermansky-pudlak syndrome: clinical features and imperatives from an ophthalmic perspective.  

PubMed

The Hermansky-Pudlak Syndrome (HPS) is a rare, autosomal recessive condition comprising nine genetically heterogeneous entities that feature oculocutaneous albinism (OCA) and bleeding tendency as their principal clinical manifestations. The pathogenesis of HPS involves disturbances in the biogenesis and trafficking of lysosome-related organelles. While the ophthalmologist is trained to address the ocular manifestations of OCA, it is critical for the provider to consider HPS when examining OCA patients as its systemic sequelae may be associated with morbidity and mortality. If there is suspicion of HPS in a patient with albinism, the ophthalmologist should enlist the aid of consultants to confirm the diagnosis and monitor for systemic features. As the nine HPS subtypes explored in this article vary widely in the character and severity of their associated systemic manifestations, some authors advocate determining the specific gene defect in each HPS patient in order to optimize care and provide anticipatory guidance. PMID:24138047

Schneier, Andrew J; Fulton, Anne B

2013-01-01

227

Unique clinical and biological features of leukemia in Down syndrome children.  

PubMed

Acute leukemias in children with Down syndrome (DS) are characterized by unique clinical and biological features. Notable among DS children with acute myeloid leukemia (AML), is the high frequency of the acute megakaryocytic leukemia (AMkL) subtype, which uniformly harbor somatic mutations in the transcription factor GATA1 gene. DS patients with AML, and in particular AMkL, have event-free survival rates of 80-100% in contrast to event-free survival rates of less than 35% for non-DS children with AMkL. DS children with acute lymphoblastic leukemia have a more heterogeneous disease, with approximately 30% of the patients having somatic JAK2 mutations, heightened methotrexate sensitivity and higher rates of treatment-related toxicities. These features highlight a striking relationship between genes localized to chromosome 21, leukemogenesis and sensitivity to leukemia chemotherapy agents. PMID:21083461

Xavier, Ana C; Ge, Yubin; Taub, Jeffrey

2010-04-01

228

The differential diagnosis of multiple sclerosis: classification and clinical features of relapsing and progressive neurological syndromes.  

PubMed

In the absence of pathognomonic clinical features or a definitive laboratory test, multiple sclerosis (MS) remains ultimately a diagnosis of exclusion. Accurate diagnosis is increasingly important with available disease modifying therapy. Unfortunately the rate of misdiagnosis remains around 5%-10%, indicating that 1 in 20 patients thought to have MS has, instead, a condition resembling MS. In this review we describe conditions that may be confused with MS because they can present as lesions disseminated in time, space, or both. Conditions often confused with MS may be inflammatory (systemic lupus erythematosus, Sjögren's syndrome, vasculitis, sarcoidosis, Behçet's disease), infectious (Lyme disease, syphilis, progressive multifocal leukoencephalopathy, HTLV-1 infection, herpes zoster), genetic (lysosomal disorders, adrenoleukodystrophy, mitochondrial disorders, CADASIL), metabolic (vitamin B12 deficiency), neoplastic (CNS lymphoma) and spinal (degenerative and vascular malformations) diseases. The key to the accurate diagnosis of MS is vigilance for atypical features, suggesting the possibility of an alternative diagnosis. PMID:11794488

Trojano, M; Paolicelli, D

2001-11-01

229

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

230

Psychogenic and organic amnesia: a multidimensional assessment of clinical, neuroradiological, neuropsychological and psychopathological features.  

PubMed

Psychogenic amnesia is a complex disorder characterised by a wide variety of symptoms. Consequently, in a number of cases it is difficult distinguish it from organic memory impairment. The present study reports a new case of global psychogenic amnesia compared with two patients with amnesia underlain by organic brain damage. Our aim was to identify features useful for distinguishing between psychogenic and organic forms of memory impairment. The findings show the usefulness of a multidimensional evaluation of clinical, neuroradiological, neuropsychological and psychopathological aspects, to provide convergent findings useful for differentiating the two forms of memory disorder. PMID:17297220

Serra, Laura; Fadda, Lucia; Buccione, Ivana; Caltagirone, Carlo; Carlesimo, Giovanni A

2007-01-01

231

Acute colonic pseudo-obstruction complicating chemotherapy in paediatric oncohaematological patients: clinical and imaging features  

PubMed Central

Objective Although acute colonic pseudo-obstruction (ACPO) complicating chemotherapy is still a controversial entity, it is one with which radiologists should be familiar. We describe the imaging features of ACPO in children following chemotherapy for treatment of a haematological malignancy. Methods We retrospectively reviewed the imaging features of eight children (age 3–14 years) with chemotherapy-related ACPO, all of whom had undergone plain radiography and CT examinations. The diagnosis of ACPO was based on both clinical features and imaging findings. Results Abnormalities noted on plain radiography included faecal gaseous distension of the transverse colon (4/8), faecal gaseous distension of the ascending colon (3/8), gaseous distended transverse colon (3/8) and gaseous small bowel loops (6/8). As seen on CT scans, findings of faecal fluid distended the ascending and transverse colon (5/8), faecal gas distended the transverse and ascending colon (3/8), and small bowel dilatation (5/8) and pneumatosis intestinalis (2/8) were noted. Seven of the eight patients had colonic dilatation from the caecum to the transverse colon with the transition zone near the splenic flexure. Conclusion In children presenting with abdominal pain and constipation following chemotherapy, imaging features of progressive colonic dilatation seen on radiography and dilatation from the caecum to the transverse colon with the transition zone near the splenic flexure, as noted on CT, are suggestive of ACPO. CT is more successful than plain radiography for evaluating this finding, particularly in colonic segments filled primarily with fluid, but CT should not be necessary for making the diagnosis as plain radiographs and clinical evaluation should be adequate. PMID:21828148

Lee, G E; Lim, G-Y; Lee, J-W; Cho, B

2012-01-01

232

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; Näslund, Jan; Axelman, Karin; Bird, Thomas D.; Nochlin, David; Schellenberg, Gerard D.; Wahlund, Lars-Olof; Lannfelt, Lars

2009-01-01

233

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

234

N-isopropyl-p-( sup 123 I)iodoamphetamine SPECT in MELAS syndrome: Comparison with CT and MR imaging  

SciTech Connect

Regional cerebral perfusion was studied in three patients with the mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome, using single photon emission computed tomography (SPECT) with N-isopropyl-p-(123I)iodoamphetamine (IMP). Accumulation of the tracer was relatively decreased in the parietooccipital regions and also in the frontotemporal regions after stroke-like episodes. However, quantitative regional cerebral blood flow (rCBF) measurement showed that rCBF was relatively well preserved even at these sites, and a hyperemic state was observed at the sites of normal accumulation. IMP SPECT may be useful in the diagnosis and assessment of the progress of the MELAS syndrome.

Satoh, M.; Ishikawa, N.; Yoshizawa, T.; Takeda, T.; Akisada, M. (Univ. of Tsukuba (Japan))

1991-01-01

235

Sequence of Lacustrine Activity Within a Basin in Southwestern Melas Chasma, Mars  

NASA Astrophysics Data System (ADS)

A perched basin located in southwestern Melas Chasma has widely been recognized as the site of a postulated paleolake. Valley networks converge from the east and west into an enclosed 30 x120 km basin and terminate in fan-shaped landforms. Fan deposits are interbedded with layered beds that are largely presumed to be lacustrine deposits. New details of the aqueous history in the Melas basin have been revealed from analysis of high-resolution image, topographic and spectral datasets from the THEMIS, HiRISE, HRSC, CTX, and CRISM instruments. We conducted a comprehensive examination of the diversity of fan-shaped landforms within the basin to characterize their morphology based on meter-scale images, evaluate their origin, and synthesize a history for the basin based on superposition relationships of the fans. Ten fan-shaped landforms have been identified which reflect various depositional environments and some fans reflect lake level(Figure 1). A distinctive megaripple marker bed, interpreted as aeolian bedforms, is within the lower levels of the exposed stratigraphic record. This observation, taken together with the stratigraphic succession of fan-shaped deposits, indicates fluctuating lake levels with, at a minimum, early and late-stage lake highstands. Landform scale was used to estimate average discharge (~30 m3/s), formative discharge (200-300 m3/s) and fan formation timescale, which further inform the duration of lacustrine activity within the basin. The synthesis of results from this study indicate the lacustrine period within the Melas basin lasted at least centuries to millennia, and included at least two highstands with an intervening lowstand or hiatus. Climate conditions conducive to lake stability had to be maintained for a duration long enough to build these fans. Localized aqueous alteration of the surface occurred after the lacustrine period, resulting in multiple hydrated silica (opal) outcrops within the basin. Figure 1: Study region and sketch map of ten fans within the southwestern Melas basin. Landslides (I1, J), debris flows (C1, D1), fan-deltas (C2, E, H), deltas (D2, F, G, I2), and deep sublacustrine (A, B) deposits are present within the basin. Orange region marked by * are deposits that may be associated with fan C1.

Williams, R. M.; Weitz, C. M.

2013-12-01

236

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. PMID:25232220

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

237

Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.  

PubMed

Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein kinase pathway. The major features of CFC include characteristic craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. It is essential that this condition be differentiated from other RASopathies, as a correct diagnosis is important for appropriate medical management and determining recurrence risk. Children and adults with CFC require multidisciplinary care from specialists, and the need for comprehensive management has been apparent to families and health care professionals caring for affected individuals. To address this need, CFC International, a nonprofit family support organization that provides a forum for information, support, and facilitation of research in basic medical and social issues affecting individuals with CFC, organized a consensus conference. Experts in multiple medical specialties provided clinical management guidelines for pediatricians and other care providers. These guidelines will assist in an accurate diagnosis of individuals with CFC, provide best practice recommendations, and facilitate long-term medical care. PMID:25180280

Pierpont, Mary Ella M; Magoulas, Pilar L; Adi, Saleh; Kavamura, Maria Ines; Neri, Giovanni; Noonan, Jacqueline; Pierpont, Elizabeth I; Reinker, Kent; Roberts, Amy E; Shankar, Suma; Sullivan, Joseph; Wolford, Melinda; Conger, Brenda; Santa Cruz, Molly; Rauen, Katherine A

2014-10-01

238

Immune thrombocytopenia: epidemiological and clinical features of 216 patients in northwestern Turkey.  

PubMed

We evaluated the clinical features, treatment modalities, treatment responses, and prognosis of our patients with immune thrombocytopenia (ITP). Furthermore, we estimated the frequency of ITP in the Thrace region of Turkey. Two hundred sixteen patients diagnosed with ITP between 2000 and 2012 at our center were retrospectively evaluated. Patients' clinical features, treatments, and responses to treatment modalities were recorded. The mean annual incidence of ITP was 2.92/100,000 (95%CI: 1.57-4.27). The overall prevalence of ITP was 35.1/100,000 (95%CI: 30.3-39.8). The administration of first-line therapy resulted in complete remission (CR) in 76.5 % of patients and partial remission (PR) in 13.6 %. After 5 years, 33 % of patients who were responsive to first-line therapy were still in relapse-free remission. Of patients who were given second-line therapy, CR was obtained in 71.3 % and PR in 14.9 %. The duration of relapse-free remission was longer with splenectomy than with steroids (p?

Koylu, Ahmet; Pamuk, Gulsum Emel; Uyanik, Mehmet Sevki; Demir, Muzaffer; Pamuk, Omer Nuri

2015-03-01

239

Hereditary gingival fibromatosis: Clinical and ultrastructural features of a new family.  

PubMed

Objective: This article describes the diagnosis, clinical and microscopic (histopathology and ultrastructural) features and treatment of a new family with hereditary gingival fibromatosis (HGF) and highlights the importance of this genetic condition. Study Design: To characterize the pattern of inheritance and the clinical features, members of a new family with HGF were examined. The pedigree was reliably constructed including the four latest generations of family. Hematoxylin and eosin staining and ultrastructural analysis were performed with the gingival tissue. Results: Examination of the family pedigree revealed that the patient III-2 represent the index patient of this family (initial patient with a mutation), which was transmitted to her daughter through an autosomal dominant mode of inheritance. The affected patients showed a generalized gingival overgrowth. The patient was treated with surgical procedures of gingivectomy and gingivoplasty. The diagnosis was confirmed by histopathology examination that showed a well-structured epithelium with elongated and thin papillae inserted in fibrous connective tissue with increased amount of collagen. The ultrastructural aspects of the tissue show collagen fibrils exhibiting their typically repeating banding pattern with some fibrils displaying loops at their end. Moreover, it was possible to seen in some regions fibrillar component presenting tortuous aspects and loss of the alignment among them. Conclusions: This HGF frequently resulted in both esthetic and functional problems. The genetic pattern of this Brazilian family suggested a new mutation, which was later transmitted by an autosomal dominant trait. PMID:25475776

Pego, S-P-B; Coletta, R; Mendes, D-C; de Faria, P-R; Filho, M-M; Alves, L-R; Júnior, H-M

2014-12-01

240

Familial deletion of 18p associated with Turner like clinical features  

SciTech Connect

The authors report the first occurrence to our knowledge of a familial deletion of the short arm of chromosome 18 in a mother and daughter. The proband is an 18-year-old female referred for chromosomal analysis because of mental retardation and short stature. She is the only offspring. Her birth weight was 3 pounds 10 ounces (below 5th percentile). As a child, she had delayed milestones. Her IQ is 69 and she is in classes for the educable mentally handicapped. Her height is 145.6 cm and weight 38.7 kg (both below 5th percentile). Physical examination revealed a low nuchal hairline. She has myopia. Chromosome analysis from peripheral blood lymphocytes revealed a 46,XX,del(18)(p11.21) karyotype. Since some of the same clinical features are also seen in the mother including short stature (157 cm), mental retardation, ocular problems like cataracts, exotropia and refractive error, chromosome analysis was performed which showed the same 46,XX,del(18)(p11.21) karyotype. A familial case like this has great implications in genetic counseling. Since the syndrome is not associated with sterility, the recurrence risk for the offspring is 50%. Patients with deletion (18p) syndrome are reported to have findings suggestive of Turner syndrome with varying degrees of mental retardation. We recommend that in patients with such clinical features associated with mental retardation, normal menstrual history and/or fertility, the possibility of deletion (18p) syndrome be considered.

Say, B.; Gopal Rao, V.V.N.; Harris, S. [H.A. Chapman Institute of Medical Genetics, Tulsa, OK (United States)] [and others

1994-09-01

241

THE RARE DISEASES CLINICAL RESEARCH NETWORK CONTACT REGISTRY UPDATE: FEATURES AND FUNCTIONALITY  

PubMed Central

The Rare Diseases Clinical Research Network (RDCRN) Contact Registry has grown in size and scope since it was first reported in this journal in 2007. In this paper, we reflect on our seven years’ experience developing and expanding the RDCRN Contact Registry to include many more rare diseases. We present the functional and data requirements that motivated this registry, and the new features and policies that have been developed since. Given the high costs and long-term commitment required to build patient registries, the RDCRN Contact Registry experience represents a reasonable approach for identifying and cultivating potential research populations, with minimal resources and patient burden. The basic model of a patient-reported registry has not changed since our 2007 report, but the number of diseases has grown from 42 to 201, and the types of information that are exchanged with participants has expanded. A patient-directed information-sharing feature has been added to reduce barriers to communication between investigators and patients affected by rare and genetic diseases. As specific data and research needs arise, the Contact Registry can be leveraged to access needed data or to solicit patients for particular research opportunities. This multiple-disease registry is scalable, expandable, and standards-driven, and has become a model for clinical and translational research across rare and many other diseases. PMID:22405970

Richesson, Rachel; Sutphen, Rebecca; Shereff, Denise; Krischer, Jeff

2013-01-01

242

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

243

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

244

Clinical and laboratory features that distinguish dengue from other febrile illnesses in endemic populations  

PubMed Central

Summary OBJECTIVE Clinicians in resource-poor countries need to identify patients with dengue using readily-available data. The objective of this systematic review was to identify clinical and laboratory features that differentiate dengue fever (DF) and/or dengue hemorrhagic fever (DHF) from other febrile illnesses (OFI) in dengue-endemic populations. METHODS Systematic review of the literature from 1990-Oct. 30, 2007 including English publications comparing dengue and OFI. RESULTS Among 49 studies reviewed, 34 did not meet our criteria for inclusion. Of the 15 studies included, 10 were prospective cohort studies and five were case-control studies. Seven studies assessed all ages, four assessed children only, and four assessed adults only. Patients with dengue had significantly lower platelet, white blood cell (WBC) and neutrophil counts, and a higher frequency of petechiae than OFI patients. Higher frequencies of myalgia, rash, hemorrhagic signs, lethargy/prostration, and arthralgia/joint pain and higher hematocrits were reported in adult patients with dengue but not in children. Most multivariable models included platelet count, WBC, rash, and signs of liver damage; however, none had high statistical validity and none considered changes in clinical features over the course of illness. CONCLUSIONS Several individual clinical and laboratory variables distinguish dengue from OFI; however, some variables may be dependent on age. No published multivariable model has been validated. Study design, populations, diagnostic criteria, and data collection methods differed widely across studies, and the majority of studies did not identify specific etiologies of OFIs. More prospective studies are needed to construct a valid and generalizable algorithm to guide the differential diagnosis of dengue in endemic countries. PMID:18803612

Potts, James A.; Rothman, Alan L.

2009-01-01

245

High Levels of KAP1 Expression Are Associated with Aggressive Clinical Features in Ovarian Cancer  

PubMed Central

KAP1 is an universal corepressor for Kruppel-associated box zinc finger proteins in both normal and tumor cells. In this study, the biological function and clinical significance of KAP1 expression in ovarian cancer were investigated. Immunohistological staining of KAP1 was evaluated in 111 patients with ovarian epithelial cancer, 15 with ovarian borderline tumor, and 20 normal ovarian tissue. The correlations of KAP1 expression with clinicopathological features were studied. Kaplan-Meier analysis and Cox proportional hazard modeling were used to assess overall survival to analyze the effect of KAP1 expression on the prognosis of ovarian cancer. The positive rates of KAP1 were significantly higher in ovarian epithelial cancer (55.7%) and borderline tumor (20.0%) than in normal ovarian tissue (5.0%) (all p < 0.01). KAP1 expression correlated significantly with clinical stage (?2 = 14.57, p < 0.0001), pathological grade (?2 = 6.06, p = 0.048) and metastases (?2 =10.38, p = 0.001). Patients with high KAP 1 levels showed poor survival (p < 0.0001). Multivariate analysis showed that KAP1 high expression was an independent predictor for ovarian cancer patients (hazard ratio = 0.463; 95% confidence interval = 0.230–0.9318, p = 0.031). Functionally, depletion of KAP1 by siRNA inhibited ovarian cancer cell proliferation, cell migration. KAP1 expression correlated with aggressive clinical features in ovarian cancer. High KAP1 expression was a prognostic factor of ovarian cancer. PMID:25548895

Cui, Yanfen; Yang, Shaobin; Fu, Xin; Feng, Jingwen; Xu, Shilei; Ying, Guoguang

2014-01-01

246

Clinical features of patients with IgG4-related disease complicated with perivascular lesions.  

PubMed

Abstract Objective. To define the clinical features of IgG4-related disease (IgG4-RD) complicated with perivascular lesions. Methods. The clinical features of seven patients with IgG4-RD and perivascular lesions diagnosed at the University of Tsukuba Hospital between October 2008 and October 2013, were analyzed, including clinical background, results of imaging studies, satisfaction of the 2011 comprehensive diagnostic criteria (CDC) for IgG4-RD, laboratory data, distribution of perivascular lesions, involvement of other organs, and response to steroid therapy. Results. We studied six men and one woman with a mean age of 66.9 ± 6.7 years (± SD). Six of seven patients were diagnosed as definite IgG4-RD, while the seventh was considered possible IgG4-RD, based on the CDC for IgG4-RD. Serum IgG4 levels at diagnosis were higher than 135 mg/dl in all seven patients (mean, 933 ± 527). Serum C-reactive protein (CRP) levels were elevated in two only (mean, 1.42 ± 3.56 mg/dl). The perivascular lesions were located in the pulmonary artery (n = 1), thoracic aorta (n = 2), abdominal aorta (n = 6), coronary (n = 1), celiac (n = 1), superior mesenteric (n = 1), renal (n = 2), inferior mesenteric (n = 5), and iliac (n = 3) arteries. In addition to perivascular lesions, six patients showed involvement of other organs. All seven patients were treated with prednisolone (0.6 mg/kg/day), which rapidly improved the perivascular and other organ lesions in six patients (the other one patient have not yet been evaluated due to the short follow-up). Conclusion. Perivascular lesions show wide distribution in patients with IgG4-RD. Serum CRP levels are not necessarily elevated in these patients. Steroid therapy is effective in IgG4-RD and results in resolution of lesions. PMID:24754274

Ebe, Hiroshi; Tsuboi, Hiroto; Hagiya, Chihiro; Takahashi, Hiroyuki; Yokosawa, Masahiro; Hagiwara, Shinya; Hirota, Tomoya; Kurashima, Yuko; Takai, Chinatsu; Miki, Haruka; Asashima, Hiromitsu; Umeda, Naoto; Kondo, Yuya; Ogishima, Hiroshi; Suzuki, Takeshi; Chino, Yusuke; Matsumoto, Isao; Sumida, Takayuki

2015-01-01

247

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

248

High Levels of KAP1 Expression Are Associated with Aggressive Clinical Features in Ovarian Cancer.  

PubMed

KAP1 is an universal corepressor for Kruppel-associated box zinc finger proteins in both normal and tumor cells. In this study, the biological function and clinical significance of KAP1 expression in ovarian cancer were investigated. Immunohistological staining of KAP1 was evaluated in 111 patients with ovarian epithelial cancer, 15 with ovarian borderline tumor, and 20 normal ovarian tissue. The correlations of KAP1 expression with clinicopathological features were studied. Kaplan-Meier analysis and Cox proportional hazard modeling were used to assess overall survival to analyze the effect of KAP1 expression on the prognosis of ovarian cancer. The positive rates of KAP1 were significantly higher in ovarian epithelial cancer (55.7%) and borderline tumor (20.0%) than in normal ovarian tissue (5.0%) (all p < 0.01). KAP1 expression correlated significantly with clinical stage (?2 = 14.57, p < 0.0001), pathological grade (?2 = 6.06, p = 0.048) and metastases (?2 =10.38, p = 0.001). Patients with high KAP 1 levels showed poor survival (p < 0.0001). Multivariate analysis showed that KAP1 high expression was an independent predictor for ovarian cancer patients (hazard ratio = 0.463; 95% confidence interval = 0.230-0.9318, p = 0.031). Functionally, depletion of KAP1 by siRNA inhibited ovarian cancer cell proliferation, cell migration. KAP1 expression correlated with aggressive clinical features in ovarian cancer. High KAP1 expression was a prognostic factor of ovarian cancer. PMID:25548895

Cui, Yanfen; Yang, Shaobin; Fu, Xin; Feng, Jingwen; Xu, Shilei; Ying, Guoguang

2014-01-01

249

Amebiasis in HIV-1-Infected Japanese Men: Clinical Features and Response to Therapy  

PubMed Central

Invasive amebic diseases caused by Entamoeba histolytica are increasing among men who have sex with men and co-infection of ameba and HIV-1 is an emerging problem in developed East Asian countries. To characterize the clinical and epidemiological features of invasive amebiasis in HIV-1 patients, the medical records of 170 co-infected cases were analyzed retrospectively, and E. histolytica genotype was assayed in 14 cases. In this series of HIV-1-infected patients, clinical presentation of invasive amebiasis was similar to that described in the normal host. High fever, leukocytosis and high CRP were associated with extraluminal amebic diseases. Two cases died from amebic colitis (resulting in intestinal perforation in one and gastrointestinal bleeding in one), and three cases died from causes unrelated to amebiasis. Treatment with metronidazole or tinidazole was successful in the other 165 cases. Luminal treatment was provided to 83 patients following metronidazole or tinidazole treatment. However, amebiasis recurred in 6 of these, a frequency similar to that seen in patients who did not receive luminal treatment. Recurrence was more frequent in HCV-antibody positive individuals and those who acquired syphilis during the follow-up period. Various genotypes of E. histolytica were identified in 14 patients but there was no correlation between genotype and clinical features. The outcome of metronidazole and tinidazole treatment of uncomplicated amebiasis was excellent even in HIV-1-infected individuals. Luminal treatment following metronidazole or tinidazole treatment does not reduce recurrence of amebiasis in high risk populations probably due to amebic re-infection. PMID:21931875

Watanabe, Koji; Gatanaga, Hiroyuki; Cadiz, Aleyla Escueta-de; Tanuma, Junko; Nozaki, Tomoyoshi; Oka, Shinichi

2011-01-01

250

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

251

Gelastic seizures: Incidence, clinical and EEG features in adult patients undergoing video-EEG telemetry.  

PubMed

This study aimed to determine clinical features of adult patients with gelastic seizures recorded on video -electroencephalography (EEG) over a 5-year period. We screened video-EEG telemetry reports for the occurrence of the term "gelastic" seizures, and assessed the semiology, EEG features, and duration of those seizures. Gelastic seizures were identified in 19 (0.8%) of 2,446 admissions. The presumed epileptogenic zone was in the hypothalamus in one third of the cases, temporal lobe epilepsy was diagnosed in another third, and the remainder of the cases presenting with gelastic seizures were classified as frontal, parietal lobe epilepsy or remained undetermined or were multifocal. Gelastic seizures were embedded in a semiology, with part of the seizure showing features of automotor seizures. A small proportion of patients underwent epilepsy surgery. Outcome of epilepsy surgery was related to the underlying pathology; two patients with hippocampal sclerosis had good outcomes following temporal lobe resection and one of four patients with hypothalamic hamartomas undergoing gamma knife surgery had a good outcome. PMID:25516460

Kovac, Stjepana; Diehl, Beate; Wehner, Tim; Fois, Chiara; Toms, Nathan; Walker, Matthew C; Duncan, John S

2015-01-01

252

Expression of CCN family members correlates with the clinical features of hepatocellular carcinoma.  

PubMed

Studies have reported that the CCN family of proteins plays an important role in stimulating tumorigenesis. However, the relationship between the CCN protein family members and the features of hepatocellular carcinoma (HCC) remains unclear. The objective of this study was to determine the relationship between the expression levels of CCN protein family members and the features of HCC. Expression levels of the CCN family of proteins in 80-paired primary HCC samples and 11 normal liver samples were determined by a quantitative real-time PCR assay. Enhanced expression of nephroblastoma overexpressed protein (NOV) and decreased expression of Wnt-induced secreted protein 1 (WISP1), cysteine-rich protein 61 (CYR61) and connective tissue growth factor (CTGF) were found in HCC samples when compared to levels in matched non-cancerous tissues. No significant difference in WISP2 was found between matched-pair samples; only a few samples showed WISP3 expression. Furthermore, the expression levels of NOV, WISP1 and CYR61 were closely correlated with certain clinical features, including venous invasion, cellular differentiation, pTNM stage, disease-free survival and overall survival. Our results suggest that HCC progression may be enhanced by NOV and suppressed by WISP1 and CYR61. Our statistical analysis suggests that these proteins may be valuable in determining the prognosis of this deadly disease and directs attention to modulating the levels of these proteins as a potential mode of therapy. PMID:25571929

Zhang, Heyun; Li, Wenbin; Huang, Pinbo; Lin, Lehang; Ye, Hua; Lin, Dechen; Koeffler, H Phillip; Wang, Jie; Yin, Dong

2015-03-01

253

Clinical features of diabetes mellitus cases complicated by Burkholderia pseudomallei septicemia.  

PubMed

The aim of this study was to analyze the clinical characteristics of diabetes mellitus patients with Burkholderia pseudomallei septicemia and evaluate strategies of diagnosis and treatment. The clinical characteristics, diagnosis, treatment, and prognosis of 39 diabetes mellitus patients with B. pseudomallei septicemia were retrospectively analyzed. Farmers, fishermen and workers were found to be high-risk groups. The clinical manifestations of patients were diverse without specific features, but mainly presented manifestations of acute fulminant septicemia, diabetic ketoacidosis, and abscesses in tissues or/and organs. Patients showed high mortality and misdiagnosis rates and were prone to relapses and long treatment duration as there are currently few effective and sensitive antibiotics for the disease. Consequently, the cost of treatment for the disease was high. Early diagnosis, a prolonged course of heavy doses of sensitive intravenous antibiotics, drainage of abscesses, intensive insulin therapy, and supportive treatment are the keys for successful management of the disease. Regular follow-ups combined with long-term blood glucose control can help reduce the disease recurrence. PMID:24782168

Quan, H B; Li, T Y; Gao, Y Y; Chen, D X

2014-01-01

254

Clinical and radiological features of pituitary stalk lesions in children and adolescents  

PubMed Central

Purpose The diagnosis of pituitary stalk lesion has been based on clinical feature, radiologic assessment for its critical location and role. This study aimed to investigate clinical symptoms, endocrine disturbance, magnetic resonance imaging (MRI) findings of pituitary stalk lesions in children and adolescents and to evaluate differences between neoplastic lesions with the others. Methods We performed a retrospective review of patients under 18 years old with pituitary stalk lesions diagnosed at the Seoul National University Children's Hospital between 2000 and 2013, by a text search for head MRI reports by using 'pituitary stalk', 'infundibulum', and 'infundibular stalk', as keywords. Results For the 76 patients, sixteen patients (21.1%) had congenital lesions, and 52 (68.4%) had neoplasms. No inflammatory lesions were found. Diabetes insipidus (DI) was the most common endocrine defect, diagnosed in 38 patients (50%). There was male predominance especially in neoplastic group. Thickened pituitary stalk was, but enhancement of lesion was not, associated with neoplasm. DI was more prevalent in neoplastic stalk lesions. Anterior pituitary dysfunction such as growth hormone and adrenocorticotropic hormone deficiencies were less prevalent in neoplastic lesions of pituitary stalk. Conclusion In conclusion, the etiology of pituitary stalk lesions in children and adolescents is diverse and different from that in adults. Neoplastic pituitary stalk lesions can be differentiated from nonneoplastic lesions by systemic evaluation of clinical, hormonal, radiological findings. PMID:25654066

Yoon, Sung Chul; Shin, Choong Ho; Yang, Sei Won

2014-01-01

255

Clinical Characteristics and Metabolic Features of Patients with Adrenal Incidentalomas with or without Subclinical Cushing's Syndrome  

PubMed Central

Background The aim of this study was to examine the clinical characteristics of adrenal incidentalomas discovered by computed tomography (CT) and to investigate metabolic features of subclinical Cushing's syndrome (SCS) in patients with adrenal incidentalomas in a tertiary hospital in Korea. Methods This retrospective study examined the clinical aspects of 268 patients with adrenal incidentalomas discovered by CT at Soonchunhyang University Bucheon Hospital. Clinical data and endocrine function of the patients as well as histological findings were obtained from medical records, while anatomic characteristics were analyzed by reviewing imaging studies. Hormonal tests for pheochromocytoma, Cushing's syndrome, and aldosterone-secreting adenoma were performed. Results Most (n=218, 81.3%) cases were nonfunctioning tumors. Of the 50 patients with functioning tumors (18.7%), 19 (7.1%) were diagnosed with SCS, nine (3.4%) with overt Cushing's syndrome, 12 (4.5%) with primary aldosteronism, and 10 (3.7%) with pheochromocytoma. Malignant tumors (both primary and metastatic) were rare (n=2, 0.7%). Body mass index, fasting glucose, hemoglobin A1c, and total cholesterol were significantly higher in patients with SCS in comparison with those with nonfunctioning tumors. The prevalence of type 2 diabetes mellitus and hypertension were significantly higher in patients with SCS compared with those with nonfunctioning tumors. Conclusion Functioning tumors, especially those with subclinical cortisol excess, are commonly found in patients with adrenal incidentalomas, although malignancy is rare. In addition, patients with SCS in adrenal incidentalomas have adverse metabolic and cardiovascular profiles.

Kim, Bo-Yeon; Chun, A-Reum; Kim, Kyu-Jin; Jung, Chan-Hee; Kang, Sung Koo; Mok, Ji-Oh

2014-01-01

256

Epidemiological Features and Clinical Manifestations of Lyme Borreliosis in Korea, 2005-2012.  

PubMed

Lyme borreliosis is one of the most common tick-borne infections in the northern hemisphere. However, the epidemiological features and clinical manifestations of Lyme borreliosis in Korea are unknown. This is the first study to investigate the characteristics of Lyme borreliosis in Korea. We traced suspected cases of Lyme borreliosis between 2005 and 2012. Of the 16 Lyme borreliosis patients identified, 11 patients had acquired autochthonous infection in Korea and 5 patients were infected outside Korea. Past exposure histories were investigated in 8 of the 11 patients with autochthonous infection. Five of 8 patients (62.5%) were suspected to be infected in northeastern alpine region. Clinically, 6 of 11 patients (54.5%) with autochthonous infection had early skin manifestations, 4 patients (36.4%) had neurologic manifestations, and one patient had acrodermatitis chronica atrophicans. In conclusion, Lyme borreliosis could be endemic in the northeastern alpine region of Korea, and neurological manifestations as well as early skin manifestations could be the major clinical characteristics of autochthonous Lyme borreliosis in Korea. PMID:25420645

Moon, Shinje; Hong, Yeongseon; Hwang, Kyu-Jam; Kim, Suyeon; Eom, Jihye; Kwon, Donghyok; Park, Ji-Hyuk; Youn, Seung-Ki; Sohn, Aeree

2014-11-25

257

Paediatric acquired demyelinating syndromes: incidence, clinical and magnetic resonance imaging features  

PubMed Central

Objective: Changing trends in multiple sclerosis (MS) epidemiology may first be apparent in the childhood population affected with first onset acquired demyelinating syndromes (ADSs). We aimed to determine the incidence, clinical, investigative and magnetic resonance imaging (MRI) features of childhood central nervous system ADSs in the British Isles for the first time. Methods: We conducted a population active surveillance study. All paediatricians, and ophthalmologists (n = 4095) were sent monthly reporting cards (September 2009–September 2010). International Paediatric MS Study Group 2007 definitions and McDonald 2010 MS imaging criteria were used for acute disseminated encephalomyelitis (ADEM), clinically isolated syndrome (CIS) and neuromyelitis optica (NMO). Clinicians completed a standard questionnaire and provided an MRI copy for review. Results: Card return rates were 90%, with information available for 200/222 positive notifications (90%). After exclusion of cases, 125 remained (age range 1.3–15.9), with CIS in 66.4%, ADEM in 32.0% and NMO in 1.6%. The female-to-male ratio in children older than 10 years (n = 63) was 1.52:1 (p = 0.045). The incidence of first onset ADS in children aged 1–15 years old was 9.83 per million children per year (95% confidence interval [CI] 8.18–11.71). A trend towards higher incidence rates of ADS in children of South Asian and Black ethnicity was observed compared with White children. Importantly, a number of MRI characteristics distinguished ADEM from CIS cases. Of CIS cases with contrast imaging, 26% fulfilled McDonald 2010 MS diagnostic criteria. Conclusions: We report the highest surveillance incidence rates of childhood ADS. Paediatric MS diagnosis at first ADS presentation has implications for clinical practice and clinical trial design. PMID:22516794

Lim, Ming J; Chong, Wui K; De Goede, Christian G; Foster, Katharine; Gunny, Roxana; Hemingway, Cheryl; Jardine, Philip E; Kneen, Rachel; Likeman, Marcus; Nischal, Ken K; Pike, Michael G; Sibtain, Naomi A; Whitehouse, William P; Cummins, Carole; Wassmer, Evangeline

2013-01-01

258

Nasal natural killer (NK)/T-cell lymphoma: clinical, histological, virological, and genetic features.  

PubMed

Nasal natural killer (NK)/T-cell lymphoma (NNKTL) is a clinical illness characterized by progressive unrelenting ulceration and necrosis of the nasal cavity and midline facial tissues. Histological features of the lymphoma include angiocentric and polymorphous lymphoreticular infiltrates, called polymorphic reticulosis. Surface antigens and the NK-cell marker, CD56, as well as pan-T antigen CD2, cytoplasmic CD3 (CD3epsilon), and CD45 are expressed in the lymphoma cells. The origin of the lymphoma is thought to be either NK-cell linkage without T-cell receptor (TCR) rearrangement or gammadeltaT-cell linkage with gammadeltaTCR rearrangement. Since the authors of this study first demonstrated the presence of Epstein Barr virus (EBV)-DNA and EBV oncogenic proteins in NNKTL, the lymphoma has been classified as one of the EBV-associated malignancies. The NNKTL cells produce interleukin (IL)-9, IL-10, and interferon-gamma-inducible protein-10 (IP-10), possibly due to EBV-oncogenic proteins in the lymphoma cells, and such cytokines take an important part in the cell proliferation and invasion, acting in an autocrine manner. Clinically, the serum EBV-DNA copy number is useful as a specific tumor marker and a predictive prognostic factor. Even in early clinical stages, the lymphoma shows poor prognosis caused by the rapid progression of the lesion into distinct organs. Our newly designed arterial infusion chemotherapy, from the superficial temporal artery, in combination with radiotherapy, has shown a favorable outcome in patients with NNKTL. In this article, the clinical, pathological, and virological characteristics of the lymphoma are reviewed, along with a report of our investigations. PMID:19593607

Harabuchi, Yasuaki; Takahara, Miki; Kishibe, Kan; Moriai, Shigetaka; Nagato, Toshihiro; Ishii, Hideyuki

2009-06-01

259

Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries  

PubMed Central

Background Children with Down syndrome (DS) have an increased risk for acute lymphoblastic leukemia (ALL). Although previous studies have shown that DS-ALL differs clinically and genetically from non-DS-ALL, much remains to be elucidated as regards genetic and prognostic factors in DS-ALL. Methods To address clinical and genetic differences between DS-ALL and non-DS-ALL and to identify prognostic factors in DS-ALL, we ascertained and reviewed all 128 pediatric DS-ALL diagnosed in the Nordic countries between 1981 and 2010. Their clinical and genetic features were compared with those of the 4,647 B-cell precursor (BCP) ALL cases diagnosed during the same time period. Results All 128 DS-ALL were BCP ALL, comprising 2.7% of all such cases. The 5-year event-free survival (EFS) and overall survival (OS) were significantly (P?=?0.026 and P?=?0.003, respectively) worse for DS-ALL patients with white blood cell counts ?50 × 109/l. The age distributions varied between the DS and non-DS cases, with age peaks at 2 and 3 years, respectively; none of the DS patients had infant ALL (P?=?0.029). The platelet counts were lower in the DS-ALL group (P?=?0.005). Abnormal karyotypes were more common in non-DS-ALL (P?clinical differences between DS-ALL and non-DS-ALL. PMID:24726034

2014-01-01

260

An autopsy study of combined pulmonary fibrosis and emphysema: correlations among clinical, radiological, and pathological features  

PubMed Central

Background Clinical evaluation to differentiate the characteristic features of pulmonary fibrosis and emphysema is often difficult in patients with combined pulmonary fibrosis and emphysema (CPFE), but diagnosis of pulmonary fibrosis is important for evaluating treatment options and the risk of acute exacerbation of interstitial pneumonia of such patients. As far as we know, it is the first report describing a correlation among clinical, radiological, and whole-lung pathological features in an autopsy cases of CPFE patients. Methods Experts retrospectively reviewed the clinical charts and examined chest computed tomography (CT) images and pathological findings of an autopsy series of 22 CPFE patients, and compared these with findings from 8 idiopathic pulmonary fibrosis (IPF) patients and 17 emphysema-alone patients. Results All patients had a history of heavy smoking. Forced expiratory volume in 1 s/forced vital capacity (FEV1/FVC%) was significantly lower in the emphysema-alone group than the CPFE and IPF-alone groups. The percent predicted diffusing capacity of the lung for carbon monoxide (DLCO%) was significantly lower in the CPFE group than the IPF- and emphysema-alone groups. Usual interstitial pneumonia (UIP) pattern was observed radiologically in 15 (68.2%) CPFE and 8 (100%) IPF-alone patients and was pathologically observed in all patients from both groups. Pathologically thick-cystic lesions involving one or more acini with dense wall fibrosis and occasional fibroblastic foci surrounded by honeycombing and normal alveoli were confirmed by post-mortem observation as thick-walled cystic lesions (TWCLs). Emphysematous destruction and enlargement of membranous and respiratory bronchioles with fibrosis were observed in the TWCLs. The cystic lesions were always larger than the cysts of honeycombing. The prevalence of both radiological and pathological TWCLs was 72.7% among CPFE patients, but no such lesions were observed in patients with IPF or emphysema alone (p?=?0.001). The extent of emphysema in CPFE patients with TWCLs was greater than that in patients without such lesions. Honeycombing with emphysema was also observed in 11 CPFE patients. Conclusions TWCLs were only observed in the CPFE patients. They were classified as lesions with coexistent fibrosing interstitial pneumonia and emphysema, and should be considered an important pathological and radiological feature of CPFE. PMID:24972672

2014-01-01

261

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

262

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

263

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

264

Incidentally diagnosed giant invasive sacral schwannoma. Its clinical features and surgical management without stability.  

PubMed

Schwannomas are benign encapsulated tumors of Schwan cells that grow slowly along the peripheral myelin nerve fibers. Sacral spinal schwannomas are very rare, and the incidence of sacral schwannoma ranges from 1-5% of all spinal schwannomas, and only around 50 cases are reported in the literature. There are 3 defined types of sacral schwannomas. These are retroperitoneal or presacral, intra osseous, and spinal schwannomas. Patients commonly present with complaints of pain and paresthesia due to the spinal schwannoma extending to extra spinal tissues. Direct x-ray, CT, MRI, and scintigraphy are used for preoperative diagnosis and treatment planning. Local recurrence and transformation to malignancy is very rare. For this reason, the frequently preferred treatments are subtotal removal of the mass or simple enucleation. In our article, we discuss the clinical features and the surgical treatment we performed without the need for stabilization in an incidentally determined giant invasive schwannoma case. PMID:24983285

Togral, Guray; Arikan, Murat; Hasturk, Askin E; Gungor, Safak

2014-07-01

265

Clinical, clinicopathologic, and pathologic features of plague in cats: 119 cases (1977-1988).  

PubMed

The clinical, clinicopathologic, and pathologic features of 119 cases of plague in cats from 1977 to 1988 in New Mexico were reviewed. Fifty-three percent were bubonic, 10% were pneumonic, 8% were septicemic, and 29% with neither buboes nor pneumonia were unclassified (but presumed septicemic). Three quarters of the lymphadenopathy was submandibular, and almost half of this was bilateral. One third of all cats had the triad of lethargy, anorexia, and fever in addition to buboes; one quarter had this triad plus abscesses. The overall mortality rate was 33%, with the greatest risk of death in pneumonic cases. For confirmatory diagnosis with a single laboratory test, fluorescent antibody was most frequently used (39% of cases). Cultures and passive hemagluttination titers were also used for confirmation. Gross and histologic findings depended on the type of plague, with Yersinia pestis organisms visualized in buboes of cats with bubonic plague and in the alveolar spaces and respiratory tubules of cats with pneumonic plague. PMID:1752774

Eidson, M; Thilsted, J P; Rollag, O J

1991-11-01

266

Epiploic appendagitis: a case report highlighting correlation between clinical features, computed tomography images and laparoscopic findings.  

PubMed

We present a case of a 72 year old male patient, who presented to the emergency department with a 2 day history of right iliac fossa pain. On examination he was apyrexial and haemodynamically stable, yet displayed signs of right iliac fossa peritonism. Inflammatory markers were mildly raised. Computed tomography and diagnostic laparoscopy both demonstrated typical features of epiploic appendagitis. Epiploic appendagitis is an uncommon cause of the acute abdomen, yet is probably underdiagnosed. The term was first used by Lynn et al. in the mid 1950s. With the increase in CT scanning and diagnostic laparoscopy, we feel that both surgeons and radiologists need to be increasingly aware of the clinical and radiological appearances of epiploic appendagitis. PMID:20457285

Bunni, J; Corrigan, A; Jacob, K; Schuijtvlot, M

2010-01-01

267

[Oculopalpebral and facial synkinesis associated with ptosis: epidemiological, clinical, and therapeutic features].  

PubMed

Synkinetic movements of the upper eyelids may be noted in association with movements of either extraocular muscles or other muscles of the face. Patients with oculopalpebral or facial-palpebral synkinesis may also have ptosis of the involved eyelid. The clinical and therapeutic features of this association are specific. We mainly distinguish two forms of synkinetic movements, characterized either by the elevation of the ptotic eyelid such as in Marcus Gunn phenomenon and in the Fuchs sign or by the falling of the upper lid such as in Marin Amat syndrome. Many surgical techniques have been used to correct the blepharoptosis and the synkinetic movement. Levator resection is often advocated for correction of blepharoptosis with a mild degree of synkinesis. However, when the ptosis is major, eyelid lag is a possible outcome. For moderate or major synkinesis, bilateral frontalis suspension with disinsertion of the levator has been suggested. This procedure generally provides satisfactory cosmetic results. PMID:21277047

Ben Rayana, N; Ben Hadj Hamida, F; Touzani, F; Chahed, N; Knani, L; Krifa, F; Yakoubi, S; Mahjoub, H

2011-02-01

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

Differences of osteoblastic bone metastases and osteolytic bone metastases in clinical features and molecular characteristics.  

PubMed

Several cancers tend to metastasize to bone, leading to osteolytic or osteoblastic bone lesions. The respective phenotypes of bone destruction and bone formation vary in clinical features, including incidence, prognosis, skeletal-related events and bone biomarkers. In addition, different molecular mechanisms explain the difference in phenotype. For example, molecules involved in osteolytic bone metastases (represented with breast cancer) include parathyroid hormone-related protein, transforming growth factor-?, while in osteoblastic lesions (represented with prostate cancer), endothelin-1 and morphogenetic proteins, etc. play a more important role in bone formation. It is important for us to understand the differences of bone metastases between two phenotypes to help clinicians to understand the underlying mechanisms, behaviors and therapies in development and currently available for bone metastases. PMID:25351174

Fang, J; Xu, Q

2015-03-01

270

Stressful life events and obsessive-compulsive disorder: clinical features and symptom dimensions.  

PubMed

The potential role of stressful life events (SLEs) in the genesis of obsessive-compulsive disorder (OCD) has been suggested by several authors, but whether the number or the severity or the type of SLEs preceding the onset of OCD has a triggering effect is unclear. Further, sociodemographic and clinical features of OCD preceded by SLEs, and the relationship between type of SLEs and type of obsessive-compulsive symptomatology remain mainly unexplored. The aims of this study were to compare the clinical features of OCD with and without SLEs preceding it and to examine the relationship between type of SLEs and OCD symptom dimensions. The number and type of SLEs which occurred before the onset of OCD were determined in 329 patients: the raters had to decide whether an occurrence 12 months before the onset of OCD would fit any of the 61 items on Paykel's list, and each event reported was carefully investigated in order to determine the exact time of occurrence. At least one event preceded the onset of OCD in 200 patients (60.8%), and this was significantly associated with female gender, abrupt onset of the disorder and somatic obsessions. Moreover, LogReg Analysis identified three specific traumatic events ("hospitalization of a family member", "major personal physical illness", "loss of personally valuable object") significantly associated with a symptom dimension (symmetry obsessions, repeating, ordering/arranging, counting, and checking compulsions). Additional evidence regarding the association among SLE-preceded OCD, female gender, somatic obsessions and symmetry/ordering symptoms should be obtained to advance the understanding of OCD. PMID:22370150

Rosso, Gianluca; Albert, Umberto; Asinari, Giovanni Francesco; Bogetto, Filippo; Maina, Giuseppe

2012-05-30

271

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

272

Epidemiological, clinical and biological features of malaria among children in Niamey, Niger  

PubMed Central

Background Malaria takes a heavy toll in Niger, one of the world's poorest countries. Previous evaluations conducted in the context of the strategy for the Integrated Management of Childhood Illness, showed that 84% of severe malaria cases and 64 % of ordinary cases are not correctly managed. The aim of this survey was to describe epidemiological, clinical and biological features of malaria among <5 year-old children in the paediatric department of the National Hospital of Niamey, Niger's main referral hospital. Methods The study was performed in 2003 during the rainy season from July 25th to October 25th. Microscopic diagnosis of malaria, complete blood cell counts and measurement of glycaemia were performed in compliance with the routine procedure of the laboratory. Epidemiological data was collected through interviews with mothers. Results 256 children aged 3–60 months were included in the study. Anthropometrics and epidemiological data were typical of a very underprivileged population: 58% of the children were suffering from malnutrition and all were from poor families. Diagnosis of malaria was confirmed by microscopy in 52% of the cases. Clinical symptoms upon admission were non-specific, but there was a significant combination between a positive thick blood smear and neurological symptoms, and between a positive thick blood smear and splenomegaly. Thrombopaenia was also statistically more frequent among confirmed cases of malaria. The prevalence of severe malaria was 86%, including cases of severe anaemia among < 2 year-old children and neurological forms after 2 years of age. Overall mortality was 20% among confirmed cases and 21% among severe cases. Conclusions The study confirmed that malaria was a major burden for the National Hospital of Niamey. Children hospitalized for malaria had an underprivileged background. Two distinctive features were the prevalence of severe malaria and a high mortality rate. Medical and non-medical underlying factors which may explain such a situation are discussed. PMID:15703076

Gay-Andrieu, Françoise; Adehossi, Eric; Lacroix, Véronique; Gagara, Moussa; Ibrahim, Maman Laminou; Kourna, Hama; Boureima, Hamadou

2005-01-01

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

Infections caused by carbapenemase-producing Enterobacteriaceae: risk factors, clinical features and prognosis.  

PubMed

Infections caused by carbapenem-producing Enterobacteriaceae (CPE) can present as several infectious syndromes, but they primarily present as respiratory, urinary and blood stream infections (primary or catheter-related) that are usually found as nosocomial or healthcare-associated infections. The risk of CPE infection is influenced by individual factors, such as the length of the hospital stay and their exposure to invasive procedures and/or to antimicrobials. Of note, exposure to several antimicrobials, not only carbapenems, has been linked to CPE colonization; the duration of antibiotic exposure is one of the primary drivers of CPE acquisition. Individual risk factors must be considered jointly with the local epidemiology of these microorganisms in healthcare institutions. Overall, these infections have a high associated mortality. Mortality is influenced by host factors (e.g., age, comorbidity and immune deficiency), infection-related variables (e.g., type and severity of the infection) and treatment-related factors such as the delay in the initiation of appropriate antimicrobial therapy and the use or monotherapy or combined antimicrobial therapy. Gaining knowledge concerning the epidemiology, clinical features and prognostic features of CPE infection could be useful for improving infection prevention and for the management of patients with infections caused by these microorganisms. PMID:25542051

Paño Pardo, José Ramón; Serrano Villar, Sergio; Ramos Ramos, Juan Carlos; Pintado, Vicente

2014-12-01

275

Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias  

PubMed Central

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, Weihong; Schmeltzer, Paul; Bonkovsky, Herbert L.

2014-01-01

276

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

277

Binge eating disorder: prevalence and psychopathological features in a clinical sample of obese people in Italy.  

PubMed

Binge eating disorder (BED) is a recently conceptualized eating disturbance, and its clinical features and prevalence are still a matter of debate. This study uses interview methodology to estimate the prevalence of BED in Italy in a sample of 66 obese people presenting for treatment, and examines potential related features typical of patients with anorexia and bulimia nervosa. The lifetime and the 6-month prevalences of BED were 18.1 and 12.1%, respectively. Breaking the group down on the basis of the current as well as lifetime presence of BED, we found that the weight and shape primary to self-esteem, and the interpersonal distress related to body image, were associated with lifetime BED (P<0.05). All-or-none thinking about food and dieting was typical of BED patients as a whole, either current (P<0.01) or remitted (P<0.05). We discuss two important findings from our study: (a) the key role of self-esteem depending upon weight and shape in discriminating the eating-disordered obese from non-eating-disordered individuals; and (b) the need to explore the whole lifespan when screening for BED, so pointing to the state-trait issue. PMID:10808038

Ramacciotti, C E; Coli, E; Passaglia, C; Lacorte, M; Pea, E; Dell'Osso, L

2000-05-15

278

Genetic and Clinical Features of Multiple Endocrine Neoplasia Types 1 and 2  

PubMed Central

Multiple endocrine neoplasia (MEN) are clinical inherited syndromes affecting different endocrine glands. Three different patterns of MEN syndromes can occur (MEN 1, MEN 2A, and MEN 2B). MEN syndromes are very rare, affect all ages and both sexes are equally affected. MEN 1 is characterized by the neoplastic transformation of the parathyroid glands, pancreatic islets, anterior pituitary, and gastrointestinal tract. Heterozygous MEN 1 germline mutations have been detected in about 70–80% of patients with MEN 1. The mutations are scattered throughout the entire genomic sequence of the gene. MEN 1 patients are characterized by variable clinical features, thus suggesting the lack of a genotype-phenotype correlation. Therapeutical approaches are different according to the different endocrinopathies. The prognosis is generally good if adequate treatment is provided. In MEN 2 syndromes, the medullary thyroid cancer (MTC) is almost invariably present and can be associated with pheochromocytoma (PHEO) and/or multiple adenomatosis of parathyroid glands with hyperparathyroidism (PHPT). The different combination of the endocrine neoplasia gives origin to 3 syndromes: MEN 2A, MEN 2B, and FMTC. The clinical course of MTC varies considerably in the three syndromes. It is very aggressive in MEN 2B, almost indolent in the majority of patients with FMTC and with variable degrees of aggressiveness in patients with MEN 2A. Activating germline point mutations of the RET protooncogene are present in 98% of MEN 2 families. A strong genotype-phenotype correlation has been observed and a specific RET mutation may be responsible for a more or less aggressive clinical course. The treatment of choice for primary MTC is total thyroidectomy with central neck lymph nodes dissection. Nevertheless, 30% of MTC patients, especially in MEN 2B and 2A, are not cured by surgery. Recently, developed molecular therapeutics that target the RET pathway have shown very promising activity in clinical trials of patients with advanced MTC. MEN 2 prognosis is strictly dependent on the MTC aggressiveness and thus on the success of the initial treatment. PMID:23209466

Romei, C.; Pardi, E.; Cetani, F.; Elisei, R.

2012-01-01

279

Pathophysiology, clinical features and radiological findings of differentiation syndrome/all-trans-retinoic acid syndrome  

PubMed Central

In acute promyelocytic leukemia, differentiation therapy based on all-trans-retinoic acid can be complicated by the development of a differentiation syndrome (DS). DS is a life-threatening complication, characterized by respiratory distress, unexplained fever, weight gain, interstitial lung infiltrates, pleural or pericardial effusions, hypotension and acute renal failure. The diagnosis of DS is made on clinical grounds and has proven to be difficult, because none of the symptoms is pathognomonic for the syndrome without any definitive diagnostic criteria. As DS can have subtle signs and symptoms at presentation but progress rapidly, end-stage DS clinical picture resembles the acute respiratory distress syndrome with extremely poor prognosis; so it is of absolute importance to be conscious of these complications and initiate therapy as soon as it was suspected. The radiologic appearance resembles the typical features of cardiogenic pulmonary edema. Diagnosis of DS remains a great skill for radiologists and haematologist but it is of an utmost importance the cooperation in suspect DS, detect the early signs of DS, examine the patients’ behaviour and rapidly detect the complications. PMID:25170395

Cardinale, Luciano; Asteggiano, Francesco; Moretti, Federica; Torre, Federico; Ulisciani, Stefano; Fava, Carmen; Rege-Cambrin, Giovanna

2014-01-01

280

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

281

Clinical and pathologic features of neuronal ceroid-lipofuscinosis in a ferret (Mustela putorius furo).  

PubMed

Clinical and pathologic features of neuronal ceroid-lipofuscinosis in a 4-month-old ferret are reported. Clinical signs including neurological symptoms appeared at 3 months of age and progressed rapidly. By magnetic resonance imaging, severe cerebral atrophy was recognized. Histopathologically, there was severe neuronal loss and diffuse astrogliosis with macrophage accumulations; lesions were found predominantly in the cerebral cortex. Intracytoplasmic pigments were observed in surviving neurons and macrophages throughout the brain. The pigments were intensely positive for periodic acid-Schiff, Luxol fast blue, and Sudan black B and exhibited a green autofluorescence. Electron microscopic examination revealed the accumulation of electron-dense granular material within lysosomes of neurons and macrophages. Immunohistochemically, a large number of saposin-positive granules accumulated in the neuronal cells, astrocytes, and macrophages of the lesions, but significant immunoreactivity for subunit c of mitochondrial adenosine triphosphate synthase was not observed. Based on these findings, the animal was diagnosed as affected by neuronal ceroid-lipofuscinosis. PMID:21383119

Nibe, K; Miwa, Y; Matsunaga, S; Chambers, J K; Uetsuka, K; Nakayama, H; Uchida, K

2011-11-01

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

Vitamin B12 in Obese Adolescents with Clinical Features of Insulin Resistance  

PubMed Central

Emerging evidence indicates an association between obesity, metformin use and reduced vitamin B12 status, which can have serious hematologic, neurologic and psychiatric consequences. This study aimed to examine B12 status in obese adolescents with pre-diabetes and/or clinical features of insulin resistance. Serum B12 was measured using chemiluminescence immunoassay in 103 (43 male, 60 female) obese (mean body mass index (BMI) z-score ± SD (2.36 ± 0.29)), adolescents aged 10 to 17 years, median (range) insulin sensitivity index of 1.27 (0.27 to 3.38) and 13.6% had pre-diabetes. Low B12 (<148 pmol/L) was identified in eight (7.8%) and borderline status (148 to 221 pmol/L) in an additional 25 (24.3%) adolescents. Adolescents with borderline B12 concentrations had higher BMI z-scores compared to those with normal concentrations (2.50 ± 0.22 vs. 2.32 ± 0.30, p = 0.008) or those with low B12 concentration (2.50 ± 0.22 vs. 2.27 ± 0.226, p = 0.041). In conclusion, nearly a third of obese adolescents with clinical insulin resistance had a low or borderline serum B12 status. Therefore, further investigations are warranted to explore the cause and the impact of low B12 status in obese pediatric populations. PMID:25486369

Ho, Mandy; Halim, Jocelyn H.; Gow, Megan L.; El-Haddad, Nouhad; Marzulli, Teresa; Baur, Louise A.; Cowell, Chris T.; Garnett, Sarah P.

2014-01-01

284

Hypopigmented mycosis fungoides: a review of its clinical features and pathophysiology*  

PubMed Central

Several distinct clinical forms of mycosis fungoides have been described. Hypopigmented mycosis fungoides should be regarded as a subtype of mycosis fungoides, insofar as it presents some peculiar characteristics that contrast with the clinical features of the classical form. Most patients with hypopigmented mycosis fungoides are younger than patients typically diagnosed with classical mycosis fungoides. In addition to typical dark-skinned individuals impairment, hypopigmented mycosis fungoides has also been described in Asian patients. The prognosis for hypopigmented mycosis fungoides is much better than for classical mycosis fungoides: hypopigmented mycosis fungoides is diagnosed when there are only patches of affected skin, and lesions usually will not progress beyond terminal stages, although they can persist for many years. Diagnosis should involve clinicopathologic correlation: skin biopsy analysis often reveals intense epidermotropism, characterized by haloed, large, and atypical CD8+ lymphocytes with convoluted nuclei, in contrast to mild to moderate dermal lymphocytic infiltrate. These CD8+ cells, which participate in T helper 1-mediated immune responses, prevent evolution to mycosis fungoides plaques and tumors and could be considered the main cause of the inhibition of melanogenesis. Therefore, hypopigmentation could be considered a marker of good prognosis for mycosis fungoides. PMID:24474105

Furlan, Fabricio Cecanho; Sanches, José Antonio

2013-01-01

285

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

286

Rabies: the clinical features, management and prevention of the classic zoonosis.  

PubMed

The diagnosis of rabies encephalitis relies on awareness of the varied clinical features and eliciting a history of unusual contact with a mammal throughout the endemic area. The diagnosis is easily missed. Laboratory tests are not routine and only confirm clinical suspicion. Rabies infection carries a case fatality exceeding 99.9%. Palliation is appropriate, except for previously-vaccinated patients or those infected by American bats, for whom intensive care is probably indicated. However, as rabies vaccines are outstandingly effective, no one should die of dog-transmitted infection. Vaccines and rabies immunoglobulin are expensive and usually scarce in Asia and Africa. All travellers to dog rabies enzootic areas should be strongly encouraged to have pre-exposure immunisation before departure. There is no contraindication to vaccination but the cost can be prohibitive. Intradermal immunisation, using 0.1 ml and sharing vials of vaccine, is cheaper and is now permitted by UK regulations. Returning travellers may need post-exposure prophylaxis. Economical intradermal post-exposure vaccination is practicable and should be introduced into rural areas of Africa and Asia immediately. Eliminating rabies in dogs is now feasible and would dramatically reduce human mortality, if funds were made available. The high current economic burden of human prophylaxis would then be largely relieved. PMID:25650205

Warrell, Mary J; Warrell, David A

2015-02-01

287

The clinical and morphologic features of nonepidermolytic ichthyosis in the golden retriever.  

PubMed

A scaling disorder specific to Golden Retriever dogs has been recognized by both dermatologists and pathologists, but to date has not been well characterized. At the University of Pennsylvania's Laboratory of Toxicology and Pathology, 46 cases of ichthyosis were diagnosed histologically in Golden Retriever dogs from January 2004 to January 2007. A total of 22 dogs had skin lesions documented at younger than 1 year of age; 3 dogs between 1 and 2 years of age; 13 dogs developed lesions at older than 2 years; and the time of onset was unknown for 8 dogs. A total of 25 dogs were female, and 21 were male. All dogs had strikingly similar histopathologic changes that consisted of mild to moderate laminar orthokeratotic hyperkeratosis with an absence of epidermal hyperplasia and dermal inflammation. Ultrastructural analysis using a ruthenium tetroxide fixation method was performed on punch biopsy samples from 5 dogs and compared with 2 control dogs (1 clinically and histologically normal sibling of an affected dog and 1 Cairn Terrier). All affected dogs had retained and convoluted membranes with crystalline structures in the stratum corneum. Scattered keratinocytes in the granular cell layer had prominent, clear, membrane-bound, cytoplasmic vacuoles. Pedigree analysis of 14 dogs was compatible with autosomal recessive inheritance, but incomplete dominance could not be ruled out. This unique hyperkeratotic/scaling disorder in Golden Retrievers has distinctive clinical, histologic, and ultrastructural features, which are consistent with a primary cornification defect. PMID:18424829

Mauldin, E A; Credille, K M; Dunstan, R W; Casal, M L

2008-03-01

288

Gorham-Stout disease: radiological, histological, and clinical features of 12 cases and review of literature.  

PubMed

Gorham-Stout disease (GSD) is an exceedingly rare disease characterized by progressive osteolysis and angiomatosis. We investigate the features of this disease and evaluate the effects of bisphosphonates (BPs) on it. The clinical, radiological, and pathological characteristics of 12 patients diagnosed with GSD were summarized. Immunohistochemical staining with specific lymphatic endothelial markers (D2-40), vascular markers (CD 31, CD 34), and vascular endothelial growth factor (VEGF) and vascular endothelial growth factor receptor 3 (VEGFR-3) was performed in specimens of bone biopsy. Patients were treated with either BPs or conjunction therapy of radiation and BPs. The effects of BPs were evaluated by the change of radiological progression, bone mineral density (BMD) and bone turnover biomarkers. To further evaluate the prognosis, a literature review was done. Idiopathic massive osteolysis was found in all patients, including 11 polyostotic and one mono-ostotic osteolysis. Soft tissue lymphangioma was presented in four patents. Four patients were complicated with chylothorax. Endothelial cells lining the proliferative vessels were positive for CD31 and CD34 and D2-40. Mild expression of VEGF and VEGFR-3 was also revealed. Stabilization in osteolysis and improvement in BMD were observed after single therapy with BPs or combined with radiotherapy. High mortality rate was found in patients with chylothorax. Spontaneous, progressive osteolysis is the most typical sign of GSD. BPs and radiotherapy can contribute to the clinical stabilization in bone lesion of GSD. The complicated chylothorax possibly indicates poor prognosis. PMID:25227772

Liu, Yi; Zhong, Ding-Rong; Zhou, Pei-Ran; Lv, Fang; Ma, Dou-Dou; Xia, Wei-Bo; Jiang, Yan; Wang, Ou; Xing, Xiao-Ping; Li, Mei

2014-09-18

289

Clinical features of the haemorrhage type moyamoya disease based on 31 cases.  

PubMed

We evaluated and analysed our own 31 cases of the haemorrhagic type of moyamoya disease to clarify the clinical features of this disease. The cases were divided into three groups. Group A consisted of 12 cases with aneurysms. Aneurysms on the circle of Willis were treated as ordinary saccular aneurysms. Group B consisted of 14 cases with intracerebral haemorrhage (ICH) without aneurysms. These were managed almost as spontaneous ICH. Group C consisted of 5 cases with intraventricular haemorrhage (IVH) without aneurysms or ICH. Twenty-two surgical procedures for aneurysms, ICH and IVH were done in 19 cases (62%). Nineteen procedures for preventing future strokes were undertaken in 11 cases (35%). The overall initial outcome was excellent in 12 cases (39%), good in 7 cases (23%), poor in 7 cases (23%), and death in 5 cases (15%). During the follow-up period (mean: 6.5 years), rebleeding occurred in two cases (8%), and ischaemic attacks in two cases (8%). The rate of rebleeding or ischaemic attacks was 1.19% per patient-year during the follow-up period. There was no ischaemic or rebleeding episode in cases treated by STA-MCA bypass with encephalomyosynagiosis (EMS) during the follow-up period. Management of the primary haemorrhage should be according to the clinical condition, type of haemorrhage, and source of haemorrhage. When the patient needs to undergo revascularization surgery to prevent future strokes, we recommend STA-MCA bypass with EMS instead of encephaloduro-arteriosynangiosis (EDAS). PMID:8955440

Kawaguchi, S; Sakaki, T; Kakizaki, T; Kamada, K; Shimomura, T; Iwanaga, H

1996-01-01

290

HIV-associated tuberculosis in developing countries: clinical features, diagnosis, and treatment.  

PubMed Central

This article reviews the clinical aspects and diagnosis of HIV-associated tuberculosis in developing countries, and summarizes WHO's recommendations for treatment. According to WHO estimates (early 1992) over 4 million persons worldwide have been infected with HIV and tuberculosis; 95% of them are in the developing countries. Clinical features of HIV-associated pulmonary tuberculosis in adults are frequently atypical, particularly in the late stage of HIV infection, with non-cavitary disease, lower lobe infiltrates, hilar lymphadenopathy and pleural effusion. More typical post-primary tuberculosis with upper lobe infiltrates and cavitations is seen in the earlier stages of HIV infection. Extrapulmonary tuberculosis is reported more frequently, despite the difficulties in diagnosing it. WHO's recent guidelines recommend 6-month short-course chemotherapy with isoniazid, rifampicin, pyrazinamide and ethambutol for patients with HIV-associated tuberculosis. The older 12-month regimen without rifampicin is much less effective. Streptomycin should not be used, because of the risk of transmitting blood-borne pathogens through contaminated needles. Thioacetazone should be abandoned, because of severe adverse reactions observed among HIV-infected patients. The roles of preventive chemotherapy and BCG vaccination for prevention of tuberculosis are also briefly discussed. PMID:1394786

Raviglione, M. C.; Narain, J. P.; Kochi, A.

1992-01-01

291

Late presentation of hyperandrogenism in pregnancy: clinical features and differential diagnosis  

PubMed Central

Summary Background Hyperandrogenic states in pregnancy are rare but arise most commonly due to new-onset ovarian pathology in pregnancy. We describe the case of a young woman who presented in the latter half of her pregnancy with features of hyperandrogenism. We review the biochemical and imaging findings and discuss the differential diagnosis. Case presentation A 26-year-old woman presented in the later part of her pregnancy with widespread hirsutism. Biochemical testing confirmed hyperandrogenism (testosterone, 13.7?nmol/l and second-trimester pregnancy range, 0.9–4.9?nmol/l), although she had no history of menstrual disturbance, hirsutism or acne prior to conception. Radiological evaluation (ultrasound and magnetic resonance imaging) revealed multiple cystic lesions in both ovaries, leading to a presumptive diagnosis of hyperreactio luteinalis (HL). The implications of maternal hyperandrogenism on foetal virilisation were considered and the patient was counselled appropriately. She delivered a healthy baby boy uneventfully. Androgen levels, hirsutism and acne normalised within a few weeks of delivery. Conclusion HL can occur at any stage of pregnancy and is an important differential diagnosis in pregnant patients with features of androgen excess. Most cases regress spontaneously after delivery and major interventions are usually not needed. Learning points Hyperandrogenism in pregnancy is rare.Clinical features are similar to the non-pregnant state in the mother but virilisation in the foetus can have profound consequences.HL and pregnancy luteoma are the most common ovarian pathologies leading to hyperandrogenism in pregnancy.Spontaneous regression occurs in the post-partum period in the vast majority of cases and surgery is only required for local complications. PMID:24616776

Das, Gautam; Eligar, Vinay S; Govindan, Jyothish; Rees, D Aled

2013-01-01

292

Ultrasonographic features and clinical implications of benign palpable breast lesions in young women  

PubMed Central

Purpose: The purpose of this study was to describe the breast ultrasonography (US) features and to investigate whether performing a core biopsy is warranted in young women having palpable solid breast masses. Methods: A total of 76 solid palpable masses in 68 consecutive women (?25 years old) underwent tissue diagnosis by percutaneous core biopsy. Two radiologists, who were blinded to the clinical history and histopathology, independently evaluated the US features according to Breast Imaging-Reporting and Data System (BI-RADS) lexicon. The frequency of benign and malignant descriptor terms that were used to characterize the lesions were compared to the final pathology. Results: All 76 palpable solid masses yielded benign pathology. On the US, the shape of the mass was described by radiologists 1 and 2 as oval or round (63.2% and 71.1%), margin as circumscribed (68.4% and 77.6%) and orientation as parallel (85.5% and 90.8%); the frequency of using all three benign descriptors was 61.8% and 68.5%, respectively. Suspicious descriptors were used less frequently by radiologists 1 and 2 including irregular shape (9.2% and 13.1%), non-circumscribed margin (31.6% and 22.4%) and non-parallel orientation (14.5% and 9.2%); the frequency of using all three suspicious descriptors was 9.2% and 11.8%, respectively. Conclusion: Despite the variable US features, breast malignancy seems extremely low in 25 years or younger women for palpable breast lesions. Using the BI-RADS lexicon, US accurately predicted benignity in about two thirds of our patients, supporting US surveillance as a safe alternative to invasive tissue sampling in this setting. PMID:25475650

Comstock, Christopher

2015-01-01

293

Classification and clinical features in 88 cases of equine cutaneous lymphoma.  

PubMed

Equine cutaneous lymphoma is an uncommon disease that can present with variable clinical signs, immunosuppression, and rapid systemic disease progression. Various subtypes of equine lymphoma have been described and classified according to a veterinary adaptation of the World Health Organization classification system, but little data is available regarding the association between lymphoma subtypes and epidemiological criteria and/or clinical outcome. The objective of the current study was to classify previously diagnosed cases of equine cutaneous lymphoma and correlate subtypes with clinical data to investigate epidemiological trends and prognostic implications. Results from the study confirm T-cell-rich, large B-cell lymphoma (TCRLBCL) as the predominant subtype in equine cutaneous lymphoma. Cutaneous T-cell lymphoma (CTCL) was the second most common phenotype in the current study. To the authors' knowledge, a description of the morphological and immunohistochemical features of CTCL in horses, an epitheliotropic neoplasm similar to the cutaneous epitheliotropic lymphoma variant (mycosis fungoides) observed in human beings and canids, has not been previously described. Less common lymphoma subtypes identified in the study include diffuse large B-cell lymphoma and anaplastic large T-cell lymphoma. Quarter Horses almost exclusively developed TCRLBCL, while the frequency of CTCL was increased significantly in Thoroughbreds compared with other breeds. TCRLBCLs more frequently presented as multiple masses while CTCLs were more often solitary nodules. When multiple regions of the body were affected, 100% of cases were TCRBCL. Finally, there was an observable trend for longer survival in cases of TCRLBCL without local recurrence, suggesting adequate surgical excision may be an effective treatment modality. PMID:25525142

Miller, Craig A; Durham, Amy C; Schaffer, Paula A; Ehrhart, E J; Powers, Barb E; Duncan, Colleen G

2015-01-01

294

Primary spinal epidural cavernous hemangioma: clinical features and surgical outcome in 14 cases.  

PubMed

OBJECT The aim of this study was to investigate the clinical characteristics, imaging features, differential diagnosis, treatment options, and prognosis for primary spinal epidural cavernous hemangiomas. METHODS Fourteen patients with pathologically diagnosed non-vertebral origin cavernous hemangiomas who had undergone surgery at Beijing Tiantan Hospital between 2003 and 2012 were identified in the hospital's database. The patients' clinical data, imaging characteristics, surgical treatment, and postoperative follow-up were analyzed retrospectively. RESULTS There were 9 males and 5 females with an average age of 51.64 years. The primary epidural cavernous hemangiomas were located in the cervical spine (2 cases), cervicothoracic junction (2 cases), thoracic spine (8 cases), thoracolumbar junction (1 case), and lumbar spine (1 case). Hemorrhage was confirmed in 4 cases during surgery. Preoperatively 5 lesions were misdiagnosed as schwannoma, 1 was misdiagnosed as a meningioma, and 1 was misdiagnosed as an arachnoid cyst. Preoperative hemorrhages were identified in 2 cases. Three patients had recurrent cavernous hemangiomas. The initial presenting symptoms were local pain in 5 cases, radiculopathy in 6 cases, and myelopathy in 3 cases. Upon admission, 1 patient had radicular symptoms and 13 had myelopathic symptoms. The average symptom duration was 18 months. All patients underwent surgery; complete resection was achieved in 8 cases, subtotal resection in 4 cases, and partial resection in 2 cases. Postoperative follow-up was completed in 10 cases (average follow-up 34 months); 1 patient died, 5 patients showed clinical improvement, and 4 patients remained neurologically unchanged. CONCLUSIONS Total surgical removal of spine epidural cavernous hemangiomas with a chronic course is the optimum treatment and carries a good prognosis. Secondary surgery for recurrent epidural cavernous hemangioma is technically more challenging. In patients with profound myelopathy from acute hemorrhage, even prompt surgical decompression can rarely reverse all symptoms. PMID:25343406

Li, Teng-Yu; Xu, Yu-Lun; Yang, Jun; Wang, James; Wang, Gui-Huai

2015-01-01

295

Clinical Features of Coxsackievirus A4, B3 and B4 Infections in Children  

PubMed Central

Background Clinical features of coxsackievirus A4 (CA4), B3 (CB3) and B4 (CB4) infections in children have not been comprehensively described. Methods/Principal Findings From January 2004 to June 2012, a total of 386 children with culture-proven CA4, CB3 and CB4 infections treated at Chang Gung Memorial Hospital, including 296 inpatients (CA4, 103; CB3, 131; CB4, 62) and 90 outpatients (CA4, 55; CB3, 14; CB4, 21), were included. From outpatients, only demographics were extracted and from inpatients, detailed clinical and laboratory data were collected retrospectively. The mean age was 32.1±30.2 months; male to female ratio was 1.3?1. Children with CB3 infection were youngest (76.6% <3 years of age), and had a highest hospitalization rate (90.3%) and a longest duration of hospitalization (mean ± SD, 7.5±6.2 days). Herpangina (74.8%) was the most common presentation for children with CA4 infection, aseptic meningitis (26.7%) and young infant with fever (23.7%) for those with CB3 infection, and herpangina (32.3%) and tonsillitis/pharyngitis (27.4%) for children with CB4 infection. Almost all the inpatients had fever (97.6%). Twelve out of thirteen (92.3%) children with complications and ten of 11 children with long-term sequelae had CB3 infections. Two fatal cases were noted, one due to myocarditis with CA4 infection and CB3 were detected from the other case which had hepatic necrosis with coagulopathy. The remaining 285 children (96.3%) recovered uneventfully. Conclusion CA4, CB3 and CB4 infections in children had different clinical disease spectrums and involved different age groups. Though rare, severe diseases may occur, particularly caused by CB3. PMID:24504149

Lee, Chia-Jie; Huang, Yhu-Chering; Yang, Shuan; Tsao, Kuo-Chien; Chen, Chih-Jung; Hsieh, Yu-Chia; Chiu, Cheng-Hsun; Lin, Tzou-Yien

2014-01-01

296

Clinical features of childhood granulomatosis with polyangiitis (wegener’s granulomatosis)  

PubMed Central

Background Granulomatosis with polyangiitis (GPA), formerly known as Wegener’s granulomatosis (WG), belongs to the group of ANCA-associated necrotizing vasculitides. This study describes the clinical picture of the disease in a large cohort of GPA paediatric patients. Children with age at diagnosis???18 years, fulfilling the EULAR/PRINTO/PRES GPA/WG classification criteria were extracted from the PRINTO vasculitis database. The clinical signs/symptoms and laboratory features were analysed before or at the time of diagnosis and at least 3 months thereafter and compared with other paediatric and adult case series (>50 patients) derived from the literature. Findings The 56 children with GPA/WG were predominantly females (68%) and Caucasians (82%) with a median age at disease onset of 11.7 years, and a median delay in diagnosis of 4.2 months. The most frequent organ systems involved before/at the time of diagnosis were ears, nose, throat (91%), constitutional (malaise, fever, weight loss) (89%), respiratory (79%), mucosa and skin (64%), musculoskeletal (59%), and eye (35%), 67% were ANCA-PR3 positive, while haematuria/proteinuria was present in?>?50% of the children. In adult series, the frequency of female involvement ranged from 29% to 50% with lower frequencies of constitutional (fever, weight loss), ears, nose, throat (oral/nasal ulceration, otitis/aural discharge), respiratory (tracheal/endobronchial stenosis/obstruction), laboratory involvement and higher frequency of conductive hearing loss than in this paediatric series. Conclusions Paediatric patients compared to adults with GPA/WG have similar pattern of clinical manifestations but different frequencies of organ involvement. PMID:24891844

2014-01-01

297

Clinical features in different age groups of patients with autoimmune hepatitis  

PubMed Central

The Chinese population are at an increased risk of autoimmune hepatitis (AIH). The aims of this study were to determine the demographic and clinical features of AIH in China. A total of 83 patients with AIH diagnosed by the revised scoring system were re-analyzed, and the clinical presentations among the different ages were compared. The patients were classified according to age at presentation. AIH occurred in patients aged ?30 years (9.6%), 31–39 years (10.8%), 40–49 years (16.9%), 50–59 years (31.3%) and ?60 years (31.3%). There were no differences in the form of the clinical presentation, concurrent autoimmune diseases, cirrhosis distribution and autoantibodies among the groups. However, patients aged ?60 years presented with higher levels of alkaline phosphatase (ALP) and ?-glutamyl transpeptidase (?-GT) compared with patients aged ?30 years (P=0.034, P=0.043, respectively), and patients aged 31–39 years had a significantly lower immunoglobulin G (IgG) level compared with those aged 50–59 years (P=0.049) and those aged ?60 years (P=0.012). By contrast, patients aged ?30 years had a significantly higher total bilirubin (TBIL) level compared with those aged 31–39 years (P=0.007), 50–59 years (P=0.002) and ?60 years (P=0.013). A substantial portion of patients with AIH were aged >60 years, indicating a poor liver-associated outcome under current management strategies. Elderly patients appeared to be more asymptomatic compared with the younger patients. PMID:24348780

PENG, MILIN; LI, YI; ZHANG, MIN; JIANG, YONGFANG; XU, YUAN; TIAN, YI; PENG, FENG; GONG, GUOZHONG

2014-01-01

298

Prospective study of POLG mutations presenting in children with intractable epilepsy: Prevalence and clinical features  

PubMed Central

Purpose To assess the frequency and clinical features of childhood-onset intractable epilepsy caused by the most common mutations in the POLG gene, which encodes the catalytic subunit of mitochondrial DNA polymerase gamma. Methods Children presenting with nonsyndromic intractable epilepsy of unknown etiology but without documented liver dysfunction at presentation were eligible for this prospective, population-based study. Blood samples were analyzed for the three most common POLG mutations. If any of the three tested mutations were found, all the exons and the exon–intron boundaries of the POLG gene were sequenced. In addition, we retrospectively reviewed the notes of patients presenting with intractable epilepsy in which we had found POLG mutations. All available clinical data were collected by questionnaire and by reviewing the medical records. Key Findings We analyzed 213 blood DNA samples from patients fulfilling the inclusion criteria of the prospective study. Among these, five patients (2.3%) were found with one of the three common POLG mutations as homozygous or compound heterozygous states. In addition, three patients were retrospectively identified. Seven of the eight patients had either raised cerebrospinal fluid (CSF) lactate (n = 3) or brain magnetic resonance imaging (MRI) changes (n = 4) at presentation with intractable epilepsy. Three patients later developed liver dysfunction, progressing to fatal liver failure in two without previous treatment with sodium valproate (VPA). Furthermore, it is worth mentioning that one patient presented first with an autism spectrum disorder before seizures emerged. Significance Mutations in POLG are an important cause of early and juvenile onset nonsyndromic intractable epilepsy with highly variable associated manifestations including autistic features. This study emphasizes that genetic testing for POLG mutations in patients with nonsyndromic intractable epilepsies is very important for clinical diagnostics, genetic counseling, and treatment decisions because of the increased risk for VPA-induced liver failure in patients with POLG mutations. We recommend POLG gene testing for patients with intractable seizures and at least one elevated CSF lactate or suggestive brain MRI changes (predominantly abnormal T2-weighted thalamic signal) with or without status epilepticus, epilepsia partialis continua, or liver manifestations typical for Alpers disease, especially when the disease course is progressive. PMID:23448099

Uusimaa, Johanna; Gowda, Vasantha; McShane, Anthony; Smith, Conrad; Evans, Julie; Shrier, Annie; Narasimhan, Manisha; O'Rourke, Anthony; Rajabally, Yusuf; Hedderly, Tammy; Cowan, Frances; Fratter, Carl; Poulton, Joanna

2013-01-01

299

Clinical and neuropathologic features of progressive supranuclear palsy with severe pallido-nigro-luysial degeneration and axonal dystrophy.  

PubMed

Pallido-nigro-luysial atrophy (PNLA) is a rare disorder that in many cases has histopathological features similar to progressive supranuclear palsy (PSP). In a pathological series of over 400 cases of PSP, eight cases were noted to have features similar to those described in PNLA, including severe atrophy and neuronal loss in the globus pallidus, substantia nigra and subthalamic nucleus, in addition to many axonal spheroids in the globus pallidus and substantia nigra. These eight cases of PSP-PNLA were compared to 11 typical PSP cases with quantitative neuropathologic indices and assessment of demographics, clinical features and the timing of clinical features. PSP-PNLA cases were younger, had longer disease duration and more often were not initially diagnosed with PSP; in the end, they did not differ from PSP with respect to any major clinical feature. The clinical course of PSP-PNLA, however, was different, with earlier gait abnormalities and difficulty with handwriting, but later falls, rigidity and dysphagia than PSP. Pathologically, the same types of lesions were detected in both PSP and PSP-PNLA, but there were differences in the distribution and density of tau-pathology, with less tau-pathology in motor cortex, striatum, pontine nuclei and cerebellum in PSP-PNLA. These clinical and pathological findings suggest that PSP-PNLA should be considered a variant of PSP. PMID:18158316

Ahmed, Zeshan; Josephs, Keith A; Gonzalez, John; DelleDonne, Anthony; Dickson, Dennis W

2008-02-01

300

Nutcracker esophagus: demographic, clinical features, and esophageal tests in 115 patients.  

PubMed

Nutcracker esophagus (NE) is a common esophageal motility disorder chacterized by high amplitude peristaltic contractions in the distal esophagus. While previous studies have examined selected aspects of this condition (e.g. pathogenesis and treatment), there is a paucity of data regarding demographic and clinical features in large cohorts of patients. The aim of this study was to describe demographics, clinical features, comorbidities, time to diagnosis, source of patient referral by specialty, and medication use in a large cohort of patients with NE. We retrospectively analyzed consecutive cases of NE diagnosed from 2008-2010. The electronic medical records of these patients were reviewed, and relevant information was extracted. We identified 115 patients with NE. The median age was 62 years (range 25-87 years), and 63% were female. The median time patients experienced symptoms prior to diagnosis was 24 months (0-480 months). Most patients presented to an internal medicine consultant (42%) or to a gastroenterologist (35%). Presenting symptoms were chest pain (31%) and dysphagia (21%). Gastroesophageal reflux disease (GERD) symptoms were common: heartburn occurred in 51% of patients, 77% had a prior history of GERD, and 78% were receiving acid suppressive medications. GERD was confirmed by testing in at least 35%. Psychiatric comorbidity occurred in 24% with half the patients receiving psychotropic medications. Irritable bowel syndrome (IBS) and fibromyalgia co-existed in 15% and 12% of patients, respectively. Surprisingly, opioids were prescribed to 26% of patients. No statistically significant correlation was found between esophageal motility parameters and symptoms. In this study, NE patients were more commonly middle-aged females experiencing a considerable amount of time between symptom onset and diagnosis. Many were initially evaluated by internists for dysphagia or chest pain and had a history of GERD. Medication prescribed prior to diagnoses frequently involved acid suppression, but narcotic and psychotropic prescriptions were also commonly used. Central sensitization syndromes (fibromyalgia and IBS), psychiatric comorbidity, and reflux commonly coexisted. Our study suggests that future investigations should address the role and interaction of GERD and psychiatric disorders in NE. PMID:24251375

Lufrano, R; Heckman, M G; Diehl, N; Devault, K R; Achem, S R

2013-11-20

301

Clinical features of adenosine sensitive syncope and tilt induced vasovagal syncope  

PubMed Central

AIM—To evaluate the possible relation between adenosine sensitive syncope and tilt induced vasovagal syncope.?METHODS—An ATP test and a head up tilt test were performed in 175 consecutive patients with syncope of uncertain origin. The ATP test consisted of the rapid intravenous injection of 20 mg of ATP; a positive response was defined as the induction of a ventricular pause (maximum RR interval) ? 6000 ms. The head up tilt test was performed at 60° for 45 minutes; if negative, 0.4 mg oral glyceryl trinitrate spray was given and the test continued for a further 20 minutes; a positive response was defined as induction of syncope in the presence of bradycardia, hypotension, or both.?RESULTS—Of the 121 patients with a positive response, 77 (64%) had a positive head up tilt alone, 18 (15%) had a positive ATP test alone, and in 26 (21%) both ATP and head up tilt were positive. Compared with the patients with isolated positive head up tilt, those with isolated positive ATP were older (mean (SD) age, 68 (10) v 45 (20) years), had a lower median number of syncopal episodes (2 v 3), a shorter median duration of syncopal episodes (4 v 36 months), a lower prevalence of situational, vasovagal, or triggering factors (11% v 64%), a lower prevalence of warning symptoms (44% v 71%), and a higher prevalence of systemic hypertension (22% v 5%) and ECG abnormalities (28% v 9%). The patients with a positive response to both tests had intermediate features. Of the 44 positive responses to the ATP test, atrioventricular block was the cause of the ventricular pause in 43; of the 29 positive cardioinhibitory responses to head up tilt, sinus arrest was present in 23 cases and atrioventricular block in six.?CONCLUSIONS—ATP and head up tilt tests identify different populations of patients affected by syncope; these have different general clinical features, different histories of syncopal episodes, and different mechanism sites of action. Therefore, adenosine sensitive syncope and tilt induced vasovagal syncope are two distinct clinical entities.???Keywords: syncope; adenosine; ATP; head up tilt PMID:10618330

Brignole, M; Gaggioli, G; Menozzi, C; Del Rosso, A; Costa, S; Bartoletti, A; Bottoni, N; Lolli, G

2000-01-01

302

Biopathologic features and clinical significance of micrometatasis in the lymph node of early gastric cancer  

PubMed Central

AIM: To evaluate the biopathologic features and clinical significance of nodal micrometastasis (MI) in early gastric cancer (EGC). METHODS: Among 1022 EGC patients who underwent gastrectomy with lymphadenectomy of D1 + ? or more from March 2001 to December 2005 at the Korean National Cancer Center, available nodal metastasis was found in 90 pT1N1 patients. Nodal metastasis was confirmed by immunohistochemistry (IHC) with cytokeratin and patients were classified into MI and macrometastasis (MA) groups based on the main tumor burden according to the 6th International Union Against Cancer/American Joint Committee on Cancer staging system; the main tumor burden with a diameter of greater than 0.2 mm but no greater than 2 mm as MI, and greater than 2 mm as MA of the representative metastatic node. Proliferative and apoptotic activities of the primary tumor and the nodal metastasis were measured by IHC with Ki-67 and terminal deoxynucleotidyl transferase dUTP nick end labeling, respectively. Biopathologic and clinical features of the patients were analyzed and compared between MI and MA groups. Patients with recurrence were compared with those without recurrence to identify risk factors for recurrence. RESULTS: Thirty-seven patients showed MI and the other 53 patients revealed MA in the lymph node; the incidence of patients with MI and MA was 41.1% and 58.9%. The main tumor burden was 0.9 and 4.6 mm in the representative metastatic node, respectively. Japanese N2 stations were more frequently involved in MA group (20.9%) than in MI group (10.3%) but the difference was not statistically different (P = 0.338). Proliferative and apoptotic activities of MI were decreased than those of MA (26.7% vs 40.5%, P = 0.004 and 1.0% vs 3.0%, P < 0.001, respectively). However, nodal MI in the current study showed a relatively high proliferative activity and an equivalent apoptotic activity compared to other cancers in the previously published studies. Recurrence was observed in 6 patients during the mean follow up period of 87.6 ± 26.2 mo. The recurrence was significantly associated with the presence of MA (P = 0.041) and lymphovascular invasion of the primary tumor (P = 0.032). CONCLUSION: Lymphadenectomy of D1 + ? or more might be necessary in patients with MI in sentinel node to prevent recurrence by clearing MI involving Japanese N2 station. PMID:25593497

Jo, Min Jung; Park, Ji Yeon; Song, Joon Seon; Kook, Myeong-Cherl; Ryu, Keun Won; Cho, Soo-Jeong; Lee, Jun Ho; Nam, Byung-Ho; Hong, Eun Kyung; Choi, Il Ju; Kim, Young-Woo

2015-01-01

303

Correlation of HOXD3 promoter hypermethylation with clinical and pathologic features in screening prostate biopsies  

PubMed Central

BACKGROUND Molecular markers that can discriminate indolent cancers from aggressive ones may improve the management of prostate cancer and minimize unnecessary treatment. Aberrant DNA methylation is a common epigenetic event in cancers and HOXD3 promoter hypermethylation (H3PH) has been found in prostate cancer. Our objective was to evaluate the relationship between H3PH and clinicopathologic features in screening prostate biopsies. METHODS Ninety-two patients who underwent a prostate biopsy at our institution between October 2011 and May 2012 were included in this study. The core with the greatest percentage of the highest grade disease was analyzed for H3PH by methylation-specific PCR. Correlational analysis was used to analyze the relationship between H3PH and various clinical parameters. Chi-square analysis was used to compare H3PH status between benign and malignant disease. RESULTS Of the 80 biopsies with HOXD3 methylation status assessable, 66 sets were confirmed to have cancer. In the 14 biopsies with benign disease there was minimal H3PH with the mean percentage of methylation reference (PMR) of 0.7%. In contrast, the HOXD3 promoter was hypermethylated in 16.7% of all cancers and in 50% of high risk tumors with an average PMR of 4.3% (P?=?0.008). H3PH was significantly correlated with age (P?=?0.013), Gleason score (P?=?0.031) and the maximum involvement of the biopsy core (P?=?0.035). CONCLUSIONS H3PH is associated with clinicopathologic features. The data indicate that H3PH is more common in older higher risk patients. More research is needed to determine the role of this marker in optimizing management strategies in men with newly diagnosed prostate cancer. Prostate 74:714–721, 2014. © 2014 The Authors. The Prostate published by Wiley Periodicals, Inc. PMID:24847526

Chen, Leonard N; Rubin, Rachel S; Othepa, Eugide; Cer, Caroline; Yun, Elizabeth; Agarwal, Raghunath P; Collins, Brian T; McGeagh, Kevin; Pahira, John; Bandi, Guarav; Kowalczyk, Keith; Kumar, Deepak; Dritschilo, Anatoly; Collins, Sean P; Bostwick, David G; Lynch, John H; Suy, Simeng

2014-01-01

304

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

305

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

306

Anatomical features and clinical importance of left atrial diverticula: MDCT findings.  

PubMed

To assess the anatomical features and clinical importance of left atrial diverticula and atrial accessory appendages in patients undergoing cardiac computed tomography with multidetector computed tomography. A total of 1305 consecutive patients (385 female, 29.5%; 920 male, 70.5%) were assessed using electrocardiogram-gated computed tomography between May 2010 and June 2013. The anatomical features and the prevalences of left atrial diverticula and left atrial accessory appendages were retrospectively assessed by four radiologists. The relationships between the prevalence and size of the diverticula and the age and gender of the patients were assessed. Among the 1305 patients, 610 (46.7%) exhibited 708 left atrial diverticula, and 62 (4.8%) exhibited left atrial accessory appendages. The most common locations of the left atrial diverticula were the right anterior superior wall (n?=?328, 46.3%) and the lateral superior wall (n?=?96, 13.5%). In addition to classical cystic and tubular diverticula, 49 (3.7%) of the patients exhibited mixed (cystic-tubular), conical, or hook-shaped diverticula and diverticular forms containing mural calcifications. There was no significant relationship between the prevalence of diverticula and the age and gender of the patients (P?>?0.05). In addition to tubular and cystic diverticula, the left atrial wall can host different diverticular forms (such as mixed, conical, calcific, and hook shaped). It could be beneficial to assess the left atrium using MDCT to determine the source of emboli in cryptogenic embolism and to reduce complications associated with interventional procedures performed for left atrial arrhythmias. PMID:24214737

Genç, Berhan; Solak, Aynur; Kantarci, Mecit; Bayraktutan, Ummügülsüm; Ogul, Hayri; Yüceler, Zeynep; Oztürk, Ali; Kizrak, Ye?im

2014-07-01

307

Analysis on the clinical features of 507 HDV-infected patients.  

PubMed

The objective of this study was to analyze the clinical feature of hepatitis delta virus (HDV)-infected patients and to discuss the pathological mechanism of hepatitis D. A total of 507 patients with hepatitis due to the infection of HDV were included. The incidence rates of various hepatitis subtypes, the sequelae, the clinical manifestation, the hepatic function, and the hepatic virus makers for all the 507 patients were analyzed statistically. A cohort of 213 patients with hepatitis B, who were also HDV free, served as the control. HDV infection significantly contributed to the increased incidence rate and mortality of severe hepatitis (SH) and cirrhosis (P < 0.01). HDV was also associated with higher incidence rates of hemorrhage in the gastrointestinal tract, abdominal ascites and hepatic encephalopathy, repetitive augmentation of alanine transaminase, and its enhanced magnitude (P < 0.01 or 0.05). The major liver function changes in patients with SH or chronic serious hepatitis was significant compared to the control (P < 0.01). Within the HDV(+) category, HBeAg(-) expression was significantly higher in the HBV DNA(-) group than the HBV DNA(+) group (P < 0.01). The expression of HDAg(+) HBeAg(-) in acute hepatitis, SH, and cirrhosis was significantly higher than that of HDAg(+) HBeAg(+) (P < 0.01 or P < 0.05). The HDV infection was closely associated with the development and prognosis of chronic serious hepatitis, SH, and cirrhosis. HDV infection could inhibit the HBV DNA replication or the HBcAg expression. The direct cytotoxicity of HDV might be the leading pathological factor in AH. HDV might play a major role in the deterioration and chronicization of HDV-co-infected hepatitis B and was responsible for the increased mortality of HBV/HDV patients. PMID:25085619

Gu, Xiao-hong; Chen, Zhuo; Dai, Ruo-yi; Zhang, Min-li; Tang, Hou-mei; Chen, Lan-bo; Dong, Bo

2014-12-01

308

Clinical study of the Pronator Quadratus muscle: anatomical features and feasibility of Pronator-Sparing Surgery  

PubMed Central

Background No clinical data for the relationship of pronator quadratus (PQ) muscle to distal radius had been reported. The aim of this study was to investigate the anatomical features of the PQ muscle related to plate osteosynthesis for distal radius fractures in clinical cases. The feasibility of PQ muscle sparing surgery was investigated as well. Methods Fifty two distal radius fractures (23-A2) were enclosed in this study. The whole width of the muscle and the distance from the distal edge of the muscle to the joint surface of the distal radius were measured. The distance from the fracture site of the radius to the joint surface was measured as well. Results The average width of the pronator quadratus muscle was 37.6 mm. The average distance from the pronator quadratus muscle to the lunate fossa surface was 12.2 mm, and the average distance from the pronator quadratus muscle to the scaphoid fossa surface was 13.6 mm. The average distance from the lunate fossa of the distal radius to the fracture site was 12.2 mm (range, 7.3-17 mm), and the scaphoid fossa of the distal radius to the fracture site was 13.2 mm (range, 9.4-18.8 mm). Conclusions This PQ muscle sparing surgery is feasible and can be performed without difficulty. The data might provide a useful basis for the preservation of pronator quadratus muscle applied to a functionally reduced fracture regarding the potential efficacy of conventional volar plate osteosynthesis. PMID:24762047

2014-01-01

309

Clinical and Microbiological Features of HIV-Associated Tuberculous Meningitis in Vietnamese Adults  

PubMed Central

Methods The aim of this prospective, observational cohort study was to determine the clinical and microbiological features, outcome, and baseline variables predictive of death, in Vietnamese adults with HIV-associated tuberculous meningitis (TBM). 58 patients were admitted to the Hospital for Tropical Diseases in Ho Chi Minh City and underwent routine clinical and laboratory assessments. Treatment was with standard antituberculous therapy and adjunctive dexamethasone; antiretroviral therapy was not routinely available. Patients were followed up until the end of TB treatment or death. Results The median symptom duration was 11 days (range 2–90 days), 21.8% had a past history of TB, and 41.4% had severe (grade 3) TBM. The median CD4 count was 32 cells/mm3. CSF findings were as follows: median leucocyte count 438×109cells/l (63% neutrophils), 69% smear positive and 87.9% culture positive. TB drug resistance rates were high (13% mono-resistance 32.6% poly-resistance 8.7% multidrug resistance). 17% patients developed further AIDS-defining illnesses. 67.2% died (median time to death 20 days). Three baseline variables were predictive of death by multivariate analysis: increased TBM grade [adjusted hazard ratio (AHR) 1.73, 95% CI 1.08–2.76, p?=?0.02], lower serum sodium (AHR 0.93, 95% CI 0.89 to 0.98, p?=?0.002) and decreased CSF lymphocyte percentage (AHR 0.98, 95% CI 0.97 to 0.99, p?=?0.003). Conclusions HIV-associated TBM is devastating disease with a dismal prognosis. CSF findings included CSF neutrophil predominance, high rates of smear and culture positivity, and high rates of antituberculous drug resistance. Three baseline variables were independently associated with death: increased TBM grade; low serum sodium and decreased CSF lymphocyte percentage. PMID:18350135

Torok, M. Estee; Chau, Tran Thi Hong; Mai, Pham Phuong; Phong, Nguyen Duy; Dung, Nguyen Thi; Chuong, Ly Van; Lee, Sue J.; Caws, M.; de Jong, Menno D.; Hien, Tran Tinh; Farrar, Jeremy J.

2008-01-01

310

Primary pulmonary hypertension: clinical, echocardiographic and haemodynamic features in 14 patients.  

PubMed

Clinical, echocardiographic and haemodynamic features in 14 patients (8 male and 6 females) with primary pulmonary hypertension, diagnosed by strict clinical and haemodynamic criteria are described. Age of the patients at diagnosis ranged from 11 years to 40 years with a mean of 23 years. The mean interval from onset of symptoms to diagnosis was 2.6 years. Common symptoms included dyspnoea on exertion (86%), fatigue (78%) and palpitation (78%). Raynaud's phenomenon was not encountered but one patient had signs and symptoms of left recurrent laryngeal nerve palsy. Pulmonary function studies showed mild restrictive ventilatory impairment (mean forced vital capacity 80% of predicted) with hypoxaemia and hypocapnea. The M-mode tracing of the pulmonary valve showed flat or negative E-F slope, a small or absent 'a' wave, and midsystolic notching in all the patients. Two-dimensional echocardiographic images showed a thickened right ventricular wall in 12(86%) patients; a normal to small left ventricular end-diastolic internal dimension in all the patients and right ventricular and right atrial enlargement in 78% of patients. Significant tricuspid regurgitation and pulmonary regurgitation was documented by Doppler interogation in 87% and 62% of patients examined respectively. Haemodynamic findings consisted of a marked rise of pulmonary artery pressure and pulmonary vascular resistance, low cardiac index and normal pulmonary artery wedge pressure. At cardiac catheterisation the mean right atrial pressure (mean +/- SD) was 9.8 +/- 4.8 mmHg; mean pulmonary artery pressure, 63.2 +/- 14.3 mmHg; cardiac index, 2.2 +/- 0.9 L/min. m2; and pulmonary vascular resistance index, 22.3 +/- 10.6 mmHg/L/min. m2; in these patients. No, death nor any sustained morbid events occurred during the diagnostic evaluation of the patients. PMID:8031285

Islam, M N; Bashar, M A; Zafar, A

1993-12-01

311

Primary myelofibrosis with or without mutant MPL: comparison of survival and clinical features involving 603 patients.  

PubMed

MPL and JAK2V617F mutation analysis was performed in 603 patients with primary myelofibrosis (PMF) seen at the Mayo Clinic, USA (n=329) or University of Florence, Italy (n=274). Mutant MPL was detected in 49 (8.1%) patients and JAK2V617F in 350 (58%); 4 patients showed both mutations. MPLW515L/K was the commonest mutation; 2 patients showed novel mutations (L513ins and Q516-P518insAAAA). The US and Italy patient cohorts were separately analyzed for comparison of survival and clinical features between MPL-mutated, JAK2-mutated and JAK2/MPL-unmutated cases. JAK2/MPL-unmutated patients were significantly younger than their JAK2-mutated counterparts, in both patient cohorts (P<0.01). In the Florence only cohort, the presence of mutant MPL was associated with older age (P<0.01) and constitutional symptoms (P=0.04) and JAK2V617F with higher hemoglobin (P<0.01) and leukocyte (P=0.03) count; neither patient cohort showed significant associations with platelet count, hemoglobin <10 g/dl, abnormal/unfavorable karyotype, spleen size or prognostic score distribution. To date, 240 deaths and 79 leukemic transformations have been documented among all 603 study patients. Multivariable analysis disclosed no significant difference in overall or leukemia-free survival between the three molecular subgroups. We conclude that the presence of mutant MPL has narrow and inconsistent phenotypic effect in PMF and does not influence overall or leukemia-free survival. PMID:21691276

Pardanani, A; Guglielmelli, P; Lasho, T L; Pancrazzi, A; Finke, C M; Vannucchi, A M; Tefferi, A

2011-12-01

312

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

313

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. PMID:25425841

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

2014-01-01

314

Prevalence and Clinical Features of Patients with the Cardiorenal Syndrome Admitted to an Internal Medicine Ward  

PubMed Central

Background Many patients admitted to a Department of Internal Medicine have different degrees of heart and kidney dysfunction. Mortality, morbidity and cost of care greatly increase when cardiac and renal diseases coexist. Methods A retrospective cohort study was conducted on 1,087 patients admitted from December 2009 to December 2012 to evaluate the prevalence of the cardiorenal syndrome (CRS) and clinical features. Results Out of 1,087 patients discharged from our unit during the study period, 190 (17.5%) were diagnosed as having CRS and classified into five types. CRS was more common in males (68.9%). CRS type 1 was associated with higher age (79.9 ± 8.9 years) and accounted for 61.5% of all deaths (p < 0.001), representing a risk factor for mortality (OR 4.23, 95% CI 1.8-10). Congestive heart failure was significantly different among the five CRS types (p < 0.0001) with a greater frequency in type 1 patients. Infectious diseases were more frequent in CRS types 1, 3 and 5 (p < 0.05). Pneumonia presented a statistically higher frequency in CRS types 1 and 5 compared to other classes (p < 0.01), and community-acquired infections were statistically more frequent in CRS types 1 and 5 (p < 0.05). The distribution of community-acquired pneumonia was different among the classes (p < 0.01) with a higher frequency in CRS types 1, 3 and 5. Conclusion CRS is a condition that is more frequently observed in the clinical practice. The identification of predisposing trigger factors, such as infectious diseases, particularly in the elderly, plays a key role in reducing morbidity and mortality. An early recognition can be useful to optimize therapy, encourage a multidisciplinary approach and prevent complications. PMID:25254030

Gigante, Antonietta; Liberatori, Marta; Gasperini, Maria Ludovica; Sardo, Liborio; Di Mario, Francesca; Dorelli, Barbara; Barbano, Biagio; Rosato, Edoardo; Rossi Fanelli, Filippo; Amoroso, Antonio

2014-01-01

315

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

316

Stratigraphic evidence of past fluvial activity in southern Melas Chasma, Valles Marineris, Mars  

NASA Astrophysics Data System (ADS)

During the late Noachian and early Hesperian periods, listric faulting led to the development of a series of hanging depressions throughout the Valles Marineris canyon system [1]. One such depression, situated on the southern wall of Melas Chasma, forms an enclosed basin which has since undergone modification from the late Hesperian to Amazonian. There is a multitude of evidence suggesting that the basin (hereon in referred to as the Southern Melas Chasma Basin; SMCB) was once host to active fluvial processes, that at minimum lasted for several hundred years [2,3]. Central to this is what appears to be the remains of a palaeolake, which is approximately 80 by 40 kilometres in area. The palaeolake contains a complex sequence of sedimentary stratigraphy, which includes several structures that resemble deltas and/or submarine fans on both the east and west side of the basin [4], and appear to originate from a network of channels and valleys that terminate in the basin. Previous studies have shown that the western valley network has drainage densities similar to terrestrial values and a dendritic nature that is indicative of precipitation and surface runoff [3]. Higher resolution mapping of the SMCB is important to further understand the stratigraphic succession and geomorphology, and to quantify how long liquid water may have been present within the basin. For this study, new digital elevation models (DEMs) have been produced in SOCET SET using stereo images from the Context Camera (CTX) and the High Resolution Imaging Science Experiment (HiRISE), both aboard the Mars Reconnaissance Orbiter. The DEMs have been produced at ~6 and ~1 m/pixel vertical resolution for CTX and HiRISE respectively. There is approximately 150-200 m of sediment within the stratigraphic succession; some individual strata are less than 10 m thick. The delta/fan structures appear to occur at different stratigraphic positions low down within the sequence. Clinoform-like and cross-bedded structures are shown to occur near the top of the sequence (a contrast to the laterally expansive, planar beds below), which suggest a significant change in depositional conditions within the SMCB during the time liquid water was stable. References: 1. Andrews-Hanna, J. C. The formation of Valles Marineris: 3. Trough formation through super-isostasy, stress, sedimentation, and subsidence. J. Geophys. Res. 117, E06002 (2012). 2. Mangold, N., Quantin, C., Ansan, V., Delacourt, C. & Allemand, P. Evidence for precipitation on Mars from dendritic valleys in the Valles Marineris area. Science 305, 78-81 (2004). 3. Quantin, C. Fluvial and lacustrine activity on layered deposits in Melas Chasma, Valles Marineris, Mars. J. Geophys. Res. 110, E12S19 (2005). 4. Metz, J. M. et al. Sublacustrine depositional fans in southwest Melas Chasma. J. Geophys. Res. 114, E10002 (2009).

Davis, Joel; Grindrod, Peter

2014-05-01

317

Clinical, radiological, and pathological features in 43 cases of intracranial subependymoma.  

PubMed

OBJECT Intracranial subependymomas are rarely reported due to their extremely low incidence. Knowledge about subependymomas is therefore poor. This study aimed to analyze the incidence and clinical, radiological, and pathological features of intracranial subependymomas. METHODS Approximately 60,000 intracranial tumors were surgically treated at Beijing Tiantan Hospital between 2003 and 2013. The authors identified all cases in which patients underwent resection of an intracranial tumor that was found to be pathological examination demonstrated to be subependymoma and analyzed the data from these cases. RESULTS Forty-three cases of pathologically confirmed, surgically treated intracranial subependymoma were identified. Thus in this patient population, subependymomas accounted for approximately 0.07% of intracranial tumors (43 of an estimated 60,000). Radiologically, 79.1% (34/43) of intracranial subependymomas were misdiagnosed as other diseases. Pathologically, 34 were confirmed as pure subependymomas, 8 were mixed with ependymoma, and 1 was mixed with astrocytoma. Thirty-five patients were followed up for 3.0 to 120 months after surgery. Three of these patients experienced tumor recurrence, and one died of tumor recurrence. Univariate analysis revealed that shorter progression-free survival (PFS) was significantly associated with poorly defined borders. The association between shorter PFS and age < 14 years was almost significant (p = 0.51), and this variable was also included in the multivariate analysis. However, multivariate analysis showed showed only poorly defined borders to be an independent prognostic factor for shorter PFS (RR 18.655, 95% CI 1.141-304.884, p = 0.040). In patients 14 years of age or older, the lesions tended to be pure subependymomas located in the unilateral supratentorial area, total removal tended to be easier, and PFS tended to be longer. In comparison, in younger patients subependymomas tended to be mixed tumors involving the bilateral infratentorial area, with a lower total removal rate and shorter PFS. CONCLUSIONS Intracranial subependymoma is a rare benign intracranial tumor with definite radiological features. Long-term survival can be expected, although poorly defined borders are an independent predictor of shorter PFS. All the features that differ between tumors in younger and older patients suggest that they might have different origins, biological behaviors, and prognoses. PMID:25361493

Bi, Zhiyong; Ren, Xiaohui; Zhang, Junting; Jia, Wang

2015-01-01

318

The clinical features of burns resulting from two aerial devices set off in a public fireworks display: 149 case reports.  

PubMed

We report the clinical features of 149 cases with aerial devices burns in a public fireworks display. The characteristic features included sudden onset, masses of terrified burn victims, small and deep wounds, mild disease conditions, and favorable prognosis. Unlike in home or illegal fireworks displays, the body areas most often involved were the extremity, chest, abdomen, and back, and most of the victims were adults in these public fireworks displays. PMID:24957358

He, Xiaosheng; Sun, Dongjie; Zhong, Xiaochun; Liu, Maolin; Ni, Youdi

2014-12-01

319

Spinal extradural en plaque meningiomas: clinical features and long-term outcomes of 12 cases.  

PubMed

Object Extradural en plaque meningiomas are very rare tumors in the spinal canal. Most studies on these lesions have been case reports with literature reviews. In this paper, the authors review their experience in a surgical series of 12 patients with histologically proven, purely extradural en plaque meningiomas and discuss their clinical features, radiological findings, and long-term outcomes. Methods Clinical and imaging data of 12 patients with spinal extradural en plaque meningiomas treated at a single institution were retrospectively analyzed. Results There were 5 male and 7 female patients, with a mean age of 39.9 years. The mean follow-up period was 74.8 months. Nine tumors were located in the cervical spine, 1 in the cervicothoracic spine, and 2 in the thoracic spine. All the tumors were confirmed as extradural en plaque meningiomas with sheetlike growth along the dura mater. Gross-total resection of the tumor with a well-demarcated dissection plane was achieved in 4 cases. Subtotal resection was achieved in 8 cases, 2 of whom underwent postoperative low-dose radiation therapy. The symptoms present before the surgery were improved in all cases at the last follow-up evaluation. The postoperative follow-up MRI showed no recurrence or regrowth in 4 cases with gross-total removal and 7 cases with subtotal removal during the mean follow-up periods of 58.0 months and 71.1 months, respectively. One patient experienced recurrence at 88 months after his initial subtotal removal and improved following a revision operation. Conclusions Spinal extradural en plaque meningiomas are amenable to surgery if complete removal can be achieved. Because of the encirclement of the dura that is characteristic of the tumors, complete resection is usually difficult, subtotal removal for spinal cord decompression is advised, and follow-up imaging is needed. The risk of long-term recurrence/regrowth of the lesions is low, and a good clinical outcome after total or subtotal removal can be expected. PMID:25237843

Wu, Liang; Yang, Tao; Deng, Xiaofeng; Yang, Chenlong; Zhao, Lei; Yao, Ning; Fang, Jingyi; Wang, Guihuai; Yang, Jun; Xu, Yulun

2014-12-01

320

Epidemiology and Clinical Features of Infections Caused by Extended-Spectrum Beta-Lactamase-Producing Escherichia coli in Nonhospitalized Patients  

Microsoft Academic Search

Infections due to extended-spectrum beta-lactamase (ESBL)-producing Escherichia coli (ESBLEC) in non- hospitalized patients seem to be emerging in different countries. Their incidence, epidemiology, and clinical impact in the community have not been studied. We describe the epidemiology and clinical features of infections caused by ESBLEC in nonhospitalized patients in Spain and the results of a case-control study performed to investigate

Jesus Rodríguez-Bano; Maria Dolores Navarro; Luisa Romero; Luis Martínez-Martínez; Miguel A. Muniain; Evelio J. Perea; Ramon Perez-Cano; Alvaro Pascual

2004-01-01

321

The relationship between radiological features and clinical manifestation and dental expenses of keratocystic odontogenic tumor  

PubMed Central

Purpose This study was performed to identify correlations between keratocystic odontogenic tumor (KCOT) data from CT sections, and data on the KCOT clinical manifestation and resulting dental expenses. Materials and Methods Following local Institutional Review Board (IRB) approval, a seven-years of retrospective study was performed regarding patients with KCOTs treated at the Seoul National University Dental Hospital. A total of 180 KCOT were included in this study. The following information was collected: age, gender, location and size of the lesion, radiological features, surgical treatment provided and dental expenses. Results There was no significant association between the size of the KCOT and age, gender, and presenting preoperative symptoms. In both jaws, it was unusual to find KCOTs under 10 mm. The correlation between the number of teeth removed and the size of the KCOT in the tooth bearing area was statistically significant in the mandible, whereas in the maxilla, no significant relationship was found. Dental expenses compared with the size of the KCOT were found to be significant in both jaws. Conclusion The size of KCOT was associated with a significant increase in dental expenses for both jaws and the number of teeth removed from the mandible. These findings emphasize the importance of routine examinations and early detection of lesions, which in turn helps preserving anatomical structures and reducing dental expenses. PMID:23807932

Min, Jung-Hyun; Huh, Kyung-Hoe; Heo, Min-Suk; Choi, Soon-Chul; Yi, Won-Jin; Bae, Kwang-Hak; Choi, Jin-Woo

2013-01-01

322

Keratocystic odontogenic tumour in a Hong Kong community: the clinical and radiological features  

PubMed Central

Objectives The aim of this study was to evaluate the clinical and conventional radiological features of a consecutive series of cases of “keratocystic odontogenic tumour” (KCOT) affecting a Hong Kong Chinese community and to determine their outcome by follow-up. Methods All cases were accompanied by appropriate radiography and were histopathologically confirmed. Results 33 consecutive KCOTs were reviewed. 18 patients were male. The mean age at first presentation was 30.6 years. Swelling was the most frequent presenting symptom. Those patients first presenting with pain were significantly older, whereas those first presenting with a maxillary lesion were significantly younger. The maxilla and mandible were affected in 13 and 20 cases, respectively. KCOTs were most frequently confined to the posterior sextants of both jaws. KCOTs affecting the maxilla were mainly unilocular, whereas those affecting the mandible were multilocular. Patients with multilocular KCOTs were significantly older. Patients with KCOTs associated with root resorption were significantly older, whereas patients associated with unerupted teeth were significantly younger. 69% displaced teeth, 41% resorbed them and 56% were associated with unerupted teeth. All but two were followed up for at least 2 years. Three lesions recurred. Conclusions KCOTs in this community displayed some differences from those reported in the literature. PMID:20203279

MacDonald-Jankowski, D S; Li, T K

2010-01-01

323

High altitude pulmonary edema-clinical features, pathophysiology, prevention and treatment  

PubMed Central

High altitude pulmonary edema (HAPE) is a noncardiogenic pulmonary edema which typically occurs in lowlanders who ascend rapidly to altitudes greater than 2500-3000 m. Early symptoms of HAPE include a nonproductive cough, dyspnoea on exertion and reduced exercise performance. Later, dyspnoea occurs at rest. Clinical features are cyanosis, tachycardia, tachypnoea and elevated body temperature generally not exceeding 38.5°C. Rales are discrete initially and located over the middle lung fields. HAPE mainly occurs due to exaggerated hypoxic pulmonary vasoconstriction and elevated pulmonary artery pressure. It has been observed that HAPE is a high permeability type of edema occurring also due to leaks in the capillary wall (‘stress failure’). Slow descent is the most effective method for prevention; in addition, graded ascent and time for acclimatization, low sleeping altitudes, avoidance of alcohol and sleeping pills, and avoidance of exercise are the key to preventing HAPE. Treatment of HAPE consists of immediate improvement of oxygenation either by supplemental oxygen, hyperbaric treatment, or by rapid descent. PMID:23580834

Paralikar, Swapnil J.

2012-01-01

324

Clinical & pathological features of acute toxicity due to Cassia occidentalis in vertebrates.  

PubMed

Cassia occidentalis is an annual shrub found in many countries including India. Although bovines and ovines do not eat it, parts of the plant are used in some traditional herbal medicines. Several animal studies have documented that fresh or dried beans are toxic. Ingestion of large amounts by grazing animals has caused serious illness and death. The toxic effects in large animals, rodents and chicken are on skeletal muscles, liver, kidney and heart. The predominant systems involved depend upon the animal species and the dose of the beans consumed. Brain functions are often affected. Gross lesions at necropsy consist of necrosis of skeletal muscle fibres and hepatic centrilobular necrosis; renal tubular necrosis is less frequent. Muscle and liver cell necrosis is reflected in biochemical abnormalities. The median lethal dose (LD(50)) is 1 g/kg for mice and rats. Toxicity is attributed to various anthraquinones and their derivatives and alkaloids, but the specific toxins have not been identified. Data on human toxicity are extremely scarce. This review summarizes information available on Cassia toxicity in animals and compares it with toxic features reported in children. The clinical spectrum and histopathology of C. occidentalis poisoning in children resemble those of animal toxicity, affecting mainly hepatic, skeletal muscle and brain tissues. The case-fatality rate in acute severe poisoning is 75-80 per cent in children. PMID:19700797

Vashishtha, V M; John, T J; Kumar, Amod

2009-07-01

325

Human epidermal growth factor receptor 2 expression in breast cancer: correlation with clinical pathological features  

PubMed Central

The overexpressed HER2 (human epidermal growth factor receptor 2) is a valuable therapeutic target. Precise assessment of HER2 status is thus crucial in the treatment of breast cancer. In this study, formalin-fixed, paraffin-embedded samples of tumors from 304 breast cancer patients who underwent curative surgery procedures between 2011 and 2014 were tested by immunohistochemistry (IHC) as a primary estimate of HER2 status, followed by fluorescence in situ hybridization (FISH). Concordance rate between IHC and FISH was evaluated. The ?2 test was used to evaluate the correlation between HER2 gene amplification status and different clinical pathological features including: (estrogen receptor) ER and (progesterone receptor) PR expression, age, menopausal status and tumor size. The results show that 84.8% of IHC score 3+ cases and 6.2% of IHC score 0/1+ cases were amplified by FISH. After exclusion of group IHC 2+, the concordance rate between FISH and IHC was 87.4%. There was a significant inverse association between expression of hormone receptors (ER and PR) and HER2 amplification (P < 0.001) among the patients studied. However, no relationship was observed between HER2 amplification and age, menopausal status and tumor size (P > 0.05). The data demonstrate a relatively high level of concordance rate for HER2 testing between FISH and IHC, and HER2 overexpression was associated with the levels of ER and PR.

Ning, Shu-Fang; Li, Ji-Lin; Luo, Cheng-Piao; Wei, Chang-Hong; Lu, Yong-Kui; Liu, Hai-Zhou; Wei, Wen-E; Zhang, Li-Tu

2014-01-01

326

Hemizygosity at the elastin locus and clinical features of Williams syndrome  

SciTech Connect

Williams syndrome is a recognizable syndrome characterized by distinctive facial appearance, gregarious personality, mental retardation, congenital heart defect, particularly supravalvular aortic stenosis (SVAS), and joint limitation. SVAS is an autosomal vascular disorder and the elastin gene was disrupted in patients with SVAS. Ewat et al. reported that hemizygosity at the elastin locus was detected in four familial and five sporadic cases of Williams syndrome. However, three patients did not have SVAS. We reconfirmed hemizygosity at the elastin locus in five patients with typical clinical features of Williams syndrome. Hemizygosity was detected in four cases with SVAS. However, one patient with distinctive facial appearance and typical Williams syndrome personality had two alleles of the elastin gene, but he did not have the congenital heart anomaly. Williams syndrome is thought to be a contiguous gene disorder. Thus, our data suggest that the elastin gene is responsible for the vascular defect in patients with Williams syndrome, and flanking genes are responsible for characteristic facial appearance and personality.

Morimoto, Y; Kuwano, A. [Ehime Univ. School of Medicine (Japan); Kuwajima, K. [Ibaraki Perfectural Handicap Children`s Hopsital (Japan)] [and others

1994-09-01

327

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

328

Primary infantile hyperparathyroidism: clinical, laboratory, and radiographic features in 21 cases  

SciTech Connect

Two cases of primary infantile hyperparathyroidism (PIH) are reported. In both cases the diagnosis was initially suspected from chest radiographs which were obtained to assess the etiology of fever and respiratory distress in one case and heart murmur in another. The first case responded well to subtotal parathyroidectomy. The second case had many unique features. (1) She never became overtly symptomatic. (2) She displayed a constellation of findings that are not yet emphasized. (3) Her indisputable radiographic findings of hyperparathyroidism vanished spontaneously by two months of age, whereas her biochemical alterations have persisted up to now, 2 1/2 years after birth. (4) Three members of her family have subclinical hyperparathyroidism (elevated serum parathormone, hypercalcemia, and hypophosphatemia). Our review of 19 more cases showed that PIH has no specific clinical symptoms and/or signs. Of the laboratory findings, hypercalcemia was most consistantly encountered. The radiographic findings, although not identical to those described in hyperparathyroid adults, had the greatest diagnostic specificity. The disorder carried a grave prognosis if not diagnosed promptly and managed surgically.

Eftekhari, F.; Yousefzadeh, D.K.

1982-06-01

329

Clinical Features PHID [pigmented hypertrichotic dermatosis with insulin-dependent diabetes mellitus, OMIM#602782] is a rare disorder  

E-print Network

4/13 Clinical Features PHID [pigmented hypertrichotic dermatosis with insulin-dependent diabetes mellitus, OMIM#602782] is a rare disorder characterized by childhood onset of pigmented hypertrichotic skin JM, Hussain K et al. SLC29A3 gene is mutated in pigmented hypertrichosis with insulin

Stephens, Matthew

330

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

331

Clinical Features: Roberts syndrome (RBS) [OMIM #268300], also known as Roberts-SC phocomelia syndrome [OMIM #269000],  

E-print Network

2/09 Clinical Features: Roberts syndrome (RBS) [OMIM #268300], also known as Roberts-SC phocomelia syndrome [OMIM #269000], is characterized by pre- and postnatal growth retardation, mental retardation), and craniofacial abnormalities (lip/palate clefting, micrognathia, hypertelorism, exophtalmos, down

Gilad, Yoav

332

Clinical Features: X-linked Female-limited Epilepsy with Mental retardation (EFMR, OMIM#300088) is characterized by seizure  

E-print Network

11/12 Clinical Features: X-linked Female-limited Epilepsy with Mental retardation (EFMR, OMIM epileptic encephalopathies resembling Dravet syndrome or focal epilepsy with or without mental retardation Services Laboratories LaboLaboratories PCDH19 Analysis for X-linked Female-Limited Epilepsy with Mental

Das, Soma

333

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 EFMRLaboratories PCDH19 Analysis for X-linked Female-Limited Epilepsy with Mental Retardation #12;4/11 References: 1

Ober, Carole

334

Clinical Features: X-linked Female-limited Epilepsy with Mental retardation (EFMR, OMIM#300088) is characterized by seizure  

E-print Network

1/13 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 Laboratories LaboLaboratories PCDH19 Analysis for X-linked Female-Limited Epilepsy with Mental Retardation #12

Ober, Carole

335

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 Laboratories PCDH19 Analysis for X-linked Female-Limited Epilepsy with Mental Retardation #12;4/11 References

Gilad, Yoav

336

Clinical Features TRMA syndrome [thiamine-responsive megaloblastic anaemia syndrome, OMIM#249270] is associated with the classic  

E-print Network

4/13 Clinical Features TRMA syndrome [thiamine-responsive megaloblastic anaemia syndrome, OMIM gene [OMIM#603941] are associated with TRMA (2). SLC19A2 encodes a high-affinity thiamine transporter results in low intracellular thiamine levels (2). The mechanism by which absence of this protein leads

Stephens, Matthew

337

High Prevalence of Polycystic Ovaries and Associated Clinical, Endocrine, and Metabolic Features in Women with Previous Gestational Diabetes Mellitus  

Microsoft Academic Search

The prevalence of polycystic ovaries, according to ultrasonography, and associated clinical, endocrine, and metabolic features were in- vestigated in women with previous gestational diabetes mellitus (GDM). Thirty-four women with GDM 3-5 yr before the investigation and 36 controls with uncomplicated pregnancies, selected for similar age, parity, and date of delivery, were investigated. The women with previous GDM showed a higher

JAN HOLTE; GIANLUCA GENNARELLI; LEIF WIDE; HANS LITHELL; CHRISTIAN BERNE

2010-01-01

338

Clinical Features: Bernard-Soulier Syndrome (BSS) is a severe bleeding disorder characterized by a prolonged bleeding time,  

E-print Network

6/11 Clinical Features: Bernard-Soulier Syndrome (BSS) is a severe bleeding disorder characterized by a prolonged bleeding time, thrombocytopenia, and extremely large platelets. Patients have a decreased number and the platelets do not adhere to each other, leading to increased bleeding time. Median age of first symptom

Ober, Carole

339

Clinical Features: Bernard-Soulier Syndrome (BSS) is a severe bleeding disorder characterized by a prolonged bleeding time,  

E-print Network

1/08 Clinical Features: Bernard-Soulier Syndrome (BSS) is a severe bleeding disorder characterized by a prolonged bleeding time, thrombocytopenia, and extremely large platelets. Patients have a decreased number and the platelets do not adhere to each other, leading to increased bleeding time. Median age of first symptom

Gilad, Yoav

340

Clinical Features: Bernard-Soulier Syndrome (BSS) is a severe bleeding disorder characterized by a prolonged bleeding time,  

E-print Network

1/13 Clinical Features: Bernard-Soulier Syndrome (BSS) is a severe bleeding disorder characterized by a prolonged bleeding time, thrombocytopenia, and extremely large platelets. Patients have a decreased number and the platelets do not adhere to each other, leading to increased bleeding time. Median age of first symptom

Ober, Carole

341

Clinical features of the extrinsic and intrinsic types of adult-onset atopic dermatitis  

PubMed Central

Background Most study concerning the prevalence and dermatological manifestations of the extrinsic and the intrinsic form of atopic dermatitis (AD) were performed in children and adult AD related to the early-onset AD extending to adult life. Adult-onset AD is a subgroup of AD. Apart from the typical eczematous flexural distribution pattern of AD, this group may also have nontypical morphology and localization. Objective The purpose of this study was to compare the clinical and diagnostic features of Thai patients with extrinsic and intrinsic type of adult-onset AD. Methods We retrospectively studied case records of patients diagnosed as adult-onset AD at the skin allergy clinic, Department of Dermatology, Siriraj Hospital, Mahidol University, Bangkok, Thailand from June, 2006 to May, 2008. The diagnosis of AD was made according to the criteria of Hanifin and Rajka and the severity of AD in each patient were assessed using the eczema area and severity index and the Rajka and Langeland score. Results Fifty six patients were enrolled. Eighty-seven percent of patients were extrinsic AD (eAD). Females predominated in both groups. Patients with eAD more commonly had typical lichenified/exudative eczematous lesions, especially on the antecubital and popliteal areas, when compared with patients with intrinsic AD (iAD). Nummular and follicular lesions were more commonly seen in iAD group than the eAD group. The most common area of involvement in the iAD was non-flexural area, followed by flexural area and extensor area. The severity of both iAD and eAD did not show a significant difference. Conclusion The eAD type of adult-onset AD was more common than the iAD type. Patients with eAD frequently had flexural lichenification whereas the iAD group tended to have nonflexural area involvement. The severity of both iAD and eAD did not show a significant difference. PMID:22053301

Boochangkool, Kanonrat; Tuchinda, Papapit; Chularojanamontri, Leena

2011-01-01

342

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

343

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

344

Chapter 15 Effects of mercury on glutathione and glutathione-dependent enzymes in catfish ( Ictalurus melas R.)  

Microsoft Academic Search

Concentrations of mercury that show acute and subacute toxicity in freshwater teleost (Ictalurus melas R.) have been determined during static experiments in aquaria. The LC50 at 96 h was found to be 0.57 mg\\/l Hg2+. Thus, catfish were exposed to selected subacute concentrations of Hg2+ (0.1, 0.2 and 0.4 mg\\/l) for 96 h and tissues were analyzed for metal accumulation.

A.-C. Elia; A.-J.-M. Dörr; L. Mantilacci; M.-I. Taticchi; R. Galarini

2000-01-01

345

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

346

Demographic and clinical features of systemic sclerosis patients with anti-RNA polymerase III antibodies.  

PubMed

Anti-RNA polymerase III antibody (RNAP) is primarily detected in diffuse cutaneous type systemic sclerosis (dcSSc) patients and strongly associated with renal crisis. Additionally, there has been increasing evidence that cancer in SSc patients is associated with RNAP. The aim of this study was to examine the demographic and clinical features of SSc patients with RNAP. Among 246 SSc patients, 5.7% were positive for RNAP, 20.7% were positive for anti-topoisomerase I antibody (Topo I) alone and 39.4% were positive for anticentromere antibody (ACA) alone. The modified Rodnan total skin score (mRTSS) in SSc patients with RNAP (19.1 ± 2.6) was significantly higher than those in SSc patients with Topo I (11.5 ± 1.1) and patients with ACA (4.4 ± 0.4). Furthermore, among SSc patients with RNAP, the levels of RNAP were positively correlated with mRTSS. Renal crisis is also significantly more prevalent in SSc patients with RNAP than patients without RNAP. Male sex, dcSSc subtype, digital vasculopathy, including digital ulcers and acro-osteolysis, interstitial lung disease and rheumatoid arthritis complications were prevalent in SSc patients with RNAP and patients with Topo-I. Primary biliary cirrhosis and Sjögren's syndrome were more in SSc patients with RNAP and patients with ACA compared with patients with Topo 1. No significant difference in the frequency of complications, including Raynaud's phenomenon, pulmonary artery hypertension and malignancy was observed between the three groups. Thus, measurement of RNAP in SSc patients is useful for the diagnosis and risk stratification of severe manifestation, such as renal crisis and severe skin sclerosis. PMID:25483258

Motegi, Sei-Ichiro; Toki, Sayaka; Yamada, Kazuya; Uchiyama, Akihiko; Ishikawa, Osamu

2015-02-01

347

Genetic Analysis of Three Korean Patients with Clinical Features of Ehlers-Danlos Syndrome Type IV  

PubMed Central

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 carotid-cavernous 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 ? 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

2007-01-01

348

HLA Genetics and Clinical Features of Self-Treated Patients on a Gluten-Free Diet  

PubMed Central

Background and Aims Increasingly, persons start a gluten-free diet (GFD) without a clear celiac disease (CD) diagnosis. Human leukocyte antigen (HLA) genotyping is useful in ruling out CD in patients with equivocal results of serologic testing or small-bowel biopsy (SBB), but its utility and the clinical features of patients on self-treated GFD (ST-GFD) are largely unknown. Methods Retrospective study of single tertiary care center cohort compared 137 patients on ST-GFD and 443 patients with well-defined CD. We compared HLA genotype, symptoms, serologic and SBB results, and response to GFD between the 2 groups. Analysis used univariate logistic regression modeling, adjusted for age and sex. Results Patients with ST-GFD presented more often with diarrhea (P<.001), abdominal distention (P<.001), flatulence (P=.002), cramping (P=.02), itchy skin (P=.02), oral inflammation (P=.04), and constipation (P=.01) and less often with anemia (P<.001) or malaise (P=.02) than CD patients. In addition, 41% did not carry DQ2.5 and DQ8 vs 6% of CD patients (P<.001). Only 2% of ST-GFD patients had SBB clearly consistent with CD. Family history of CD showed no difference between groups (P=.77). Although CD patients had a statistically higher rate of GFD benefit, both groups had a high responsiveness rate (98% vs 94%; P=.03). Conclusions HLA genotyping is useful in evaluating patients on a ST-GFD. Although confirmed CD is rare in self-treated patients, most still report benefit from GFD regardless of DQ2 and DQ8 status. Nonceliac gluten sensitivity may play a role. PMID:23632357

Coburn, John A.; Vande Voort, Jennifer L.; Lahr, Brian D.; Van Dyke, Carol T.; Kroning, Cynthia M.; Wu, Tsung-Teh; Gandhi, Manish J.; Murray, Joseph A.

2013-01-01

349

Clinical Features of Fixed Drug Eruption at a Tertiary Hospital in Korea  

PubMed Central

Purpose Fixed drug eruption (FDE) is characterized by a well-defined erythematous patch, plaque, or bullous eruption that recurs at the same site as the result of systemic exposure to a causative drug, and resolves with or without hyperpigmentation. This study was carried out to identify the common causative drugs and clinical features of FDE in Korea. Methods We reviewed electronic medical records of all patients diagnosed with FDE from January 2000 to December 2010 at a tertiary hospital in Korea. Results A total of 134 cases were diagnosed as FDE. The mean age was 35.9 years (range, 0-82 years) and 69 (51.5%) of the patients were male. The mean duration from the first event to attending hospital was 1.9 years (range, 1-20 years). The mean number of recurrences was 2.6 (1-10), and 72.6% of patients sought medical care after experiencing symptoms twice or more. Four patients (3.1%) needed hospitalization. The most common sites were the upper extremities (47.7%), followed by the lower extremities, face, abdomen, chest, buttocks and perineum. Clear documentation on the causative drugs was available for 38 patients (28.4%), and among these, non-steroidal anti-inflammatory drugs (NSAIDs) and acetaminophen accounted for 71.1% of cases, and antibiotics accounted for 15.8%. Eighty patients (59.7%) underwent active treatment for FDE, and topical steroids were most frequently prescribed (43.3%), with systemic steroids used in 11.2% of patients. Conclusions NSAIDs and acetaminophen were the main causative agents of FDE, however, the causative agents were not assessed in 25% of patients. PMID:25228998

Jung, Jae-Woo; Cho, Sang-Heon; Kim, Kyu-Han; Min, Kyung-Up

2014-01-01

350

The Clinical Features and Diagnosis of Canavan’s Disease: A Case Series of Iranian Patients  

PubMed Central

Objective Canavan’s disease is a lethal illness caused by a single gene mutation that is inherited as an autosomal recessive pattern. It has many different clinical features especially in the non-Ashkenazi Jewish population. Material & Methods 45 patients were referred to the Pediatric Neurology Department of Mofid Children’s Hospital in Tehran-Iran from 2010–2014 with a chief complaint of neuro developmental delays, seizures, and neuroimaging findings of leukodystrophy were included in this study. Magnetic Resonance Spectrometry (MRS) and neuro metabolic assessment from a referral laboratory in Germany confirmed that 17 patients had Canavan’s disease. Results Visual impairment, seizure, hypotonia, neuro developmental arrest, and macrocephaly were the most consistent findings in the patients in this study. Assessments of neuro developmental status revealed that 13 (76%) patients had neuro developmental delays and 4 (24%) patients had normal neuro development until 18 months of age and then their neuro developmental milestones regressed. In this study, 100% of cases had macrocephalia and 76% of these patients had visual impairment. A history of seizures was positive in 8 (47%) patients and began around 3 months of age with the most common type of seizure was tonic spasm. EEGs were abnormal in all epileptic patients. In ten of the infantile group, we did not detect elevated level of N-acetylaspartic acid (NAA) in serum and urine. However, the MRS showed typical findings for Canavan’s disease (peaks of N-acetylaspartic acid). Conclusion We suggest using MRS to detect N-acetylaspartic acid as an acceptable method for the diagnosis of Canavan’s disease in infants even with normal serum and urine N-acetylaspartic acid levels.

KARIMZADEH, Parvaneh; JAFARI, Narjes; NEJAD BIGLARI, Habibe; RAHIMIAN, Elham; AHMADABADI, Farzad; NEMATI, Hamid; NASEHI, Mohamad Mehdi; GHOFRANI, Mohammad; MOLLAMOHAMMADI, Mohsen

2014-01-01

351

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

352

Clinical features and short-term outcomes of pediatric acute fulminant myocarditis in a single center  

PubMed Central

Purpose The aims of this study were to document our single-center experience with pediatric acute fulminant myocarditis (AFM) and to investigate its clinical features and short-term outcomes. Methods We performed a retrospective chart review of all children <18 years old who were diagnosed with AFM between October 2008 and February 2013. Data about patient demographics, initial symptoms, investigation results, management, and outcomes between survivors and nonsurvivors were collected. Results Seventeen of 21 patients (80.9%) with myocarditis were diagnosed with AFM. Eleven patients (64.7%) survived to discharge, and 6 (35.3%) died. Electrocardiography on admission revealed dysrhythmia in 10 patients (58.8%); of these, all 7 patients with a complete atrioventricular block survived. Fractional shortening upon admission was significantly different between the survivors (16%) and nonsurvivors (8.5%) (P=0.01). Of the serial biochemical markers, only the initial brain natriuretic peptide (P=0.03) and peak blood urea nitrogen levels (P=0.02) were significantly different. Of 17 patients, 4 (23.5%) required medical treatment only. Extracorporeal membrane oxygenation (ECMO) was performed in 13 patients (76.5%); the survival rate in these patients was 53.8%. ECMO support was initiated >24 hours after admission in 4 of the 13 patients (30.7%), and 3 of those 4 patients (75%) died. Conclusion AFM outcomes may be associated with complete atrioventricular block upon hospital admission, left ventricular fractional shortening at admission, time from admission to the initiation of ECMO support, initial brain natriuretic peptide level, and peak blood urea nitrogen level.

Lee, Eun Young; Lee, Hae Lyoung; Kim, Hyung Tae; Lee, Hyoung Doo

2014-01-01

353

The networks from medical knowledge and clinical practice have small-world, scale-free, and hierarchical features  

NASA Astrophysics Data System (ADS)

Here, we constructed and analyzed a network (henceforth, “medical knowledge network”) derived from a commonly used medical text. We show that this medical knowledge network has small-world, scale-free, and hierarchical features. We then constructed a network from data from a hospital information system that reflected actual clinical practice and found that this network also had small-world, scale-free, and hierarchical features. Moreover, we found that both the diagnosis frequency distribution of the hospital network and the diagnosis degree distribution of the medical knowledge network obeyed a similar power law. These findings suggest that the structure of clinical practice may emerge from the mutual influence of medical knowledge and clinical practice, and that the analysis of a medical knowledge network may facilitate the investigation of the characteristics of medical practice.

Tachimori, Yutaka; Iwanaga, Hiroaki; Tahara, Takashi

2013-12-01

354

Thyrotoxicosis with absence of clinical features of acromegaly in a TSH- and GH-secreting, invasive pituitary macroadenoma  

PubMed Central

Summary A 54-year-old woman presented with bi-temporal hemianopia, palpitations, and diaphoresis. An invasive pituitary macroadenoma was discovered. The patient had biochemical evidence of secondary hyperthyroidism and GH excess; however, she did not appear to be acromegalic. Surgical removal of the pituitary mass revealed a plurihormonal TSH/GH co-secreting pituitary adenoma. TSH-secreting adenomas can co-secrete other hormones including GH, prolactin, and gonadotropins; conversely, co-secretion of TSH from a pituitary adenoma in acromegaly is infrequent. Learning points This case highlights an unusual patient with a rare TSH/GH co-secreting pituitary adenoma with absence of the clinical features of acromegaly.Plurihormonality does not always translate into the clinical features of hormonal excess.There appears to be a clinical and immunohistochemical spectrum present in plurihormonal tumors. PMID:25614823

Hamrahian, Amir H; Prayson, Richard A; Kennedy, Laurence; Weil, Robert J

2015-01-01

355

Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort  

PubMed Central

Mutations in dynamin 2 (DNM2) gene cause autosomal dominant centronuclear myopathy and occur in around 50% of patients with centronuclear myopathy. We report clinical, morphological, muscle imaging and genetic data of 10 unrelated Italian patients with centronuclear myopathy related to DNM2 mutations. Our results confirm the clinical heterogeneity of this disease, underlining some peculiar clinical features, such as severe pulmonary impairment and jaw contracture that should be considered in the clinical follow-up of these patients. Muscle MRI showed a distinct pattern of involvement, with predominant involvement of soleus and tibialis anterior in the lower leg muscles, followed by hamstring muscles and adductor magnus at thigh level and gluteus maximus. The detection of three novel DNM2 mutations and the first case of somatic mosaicism further expand the genetic spectrum of the disease. PMID:23394783

Catteruccia, Michela; Fattori, Fabiana; Codemo, Valentina; Ruggiero, Lucia; Maggi, Lorenzo; Tasca, Giorgio; Fiorillo, Chiara; Pane, Marika; Berardinelli, Angela; Verardo, Margherita; Bragato, Cinzia; Mora, Marina; Morandi, Lucia; Bruno, Claudio; Santoro, Lucio; Pegoraro, Elena; Mercuri, Eugenio; Bertini, Enrico; D’Amico, Adele

2013-01-01

356

[Septic arthritis in children with normal initial C-reactive protein: clinical and biological features].  

PubMed

Septic arthritis has to be suspected in children with joint effusion and fever so as to perform joint aspiration, which will confirm the diagnosis by bacteriological methods, and to perform surgical treatment by joint lavage. Since development of current molecular methods, such as real-time PCR, Kingella kingae has become the first microbial agent of osteoarticular infections in young children, whereas Staphylococcus aureus is second. C-reactive protein (CRP) is an aid used to diagnose septic arthritis, but its elevation could be moderate. In a previous study, conducted at our hospital, 10% of children hospitalized for S. aureus or K. kingae septic arthritis had a CRP level<10 mg/L. To determine if diagnosis of septic arthritis could be made by other parameters, we analyzed the clinical and biologic features of these patients and compared them to those of children hospitalized for septic arthritis with initial CRP ?10 mg/L. Among the 89 children with septic arthritis, 10% (n=9) had initial CRP<10 mg/L (K. kingae, n=5/63 ; S. aureus, n=4/26). Initial temperature and fibrinogen were significantly lower in the CRP<10 mg/L group than in the other (37.3°C vs. 37.9°C, P=0.039 and 4.19 vs. 5.72 g/L, P=0.003, respectively). Age, symptom duration before diagnosis, as well as leukocyte and platelet counts were similar in both groups. Two children (2/89=2.2%) with S. aureus septic arthritis had no fever, CRP elevation, or fibrinogen elevation. In the CRP-negative group, three of four children with S. aureus arthritis and one of five with K. kingae arthritis had a high CRP level (34, 40, 61, and 13 mg/L, respectively) 3 days after surgery and antibiotic treatment. One child with K. kingae septic arthritis and initial CRP<10 mg/L needed a second surgical drainage because of relapse of arthritis. In the S. aureus arthritis group, none of the children with initial CRP<10 mg/L experienced complications, while six of those with initial CRP?10 mg/L needed a second surgical act or hospitalization in an intensive care unit. While CRP is most often>10 mg/L during septic arthritis in children, it could be negative in up to 20% of patients in different studies. However, a mild inflammatory syndrome or even a CRP<10 mg/L cannot exclude diagnosis of septic arthritis. Therefore, a first episode of monoarthritis in children has to be considered as septic arthritis and treatment should not be delayed. PMID:25282461

Basmaci, R; Ilharreborde, B; Bonacorsi, S; Kahil, M; Mallet, C; Aupiais, C; Doit, C; Dugué, S; Lorrot, M

2014-11-01

357

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

358

A critical assessment of feature selection methods for biomarker discovery in clinical proteomics.  

PubMed

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

359

Lyme arthritis: Clinical features, serological, and radiographic findings of cases in Germany  

Microsoft Academic Search

Summary The clinical manifestations, serological data, and radiographic findings of ten cases of Lyme arthritis in Germany are summarized. Qualitative assessment shows that the characteristics of the disease in Germany do not differ fundamentally from those reported in the USA. However, since a serological test for antibodies to the causative spirochete is now available, the great variety of the clinical

P. Herzer; B. Wilske; V. Preac-Mursic; G. Schierz; M. Schattenkirchner; N. Zöllner

1986-01-01

360

Respiratory Syncytial Virus Pneumonitis in Immunocompromised Adults: Clinical Features and Outcome  

Microsoft Academic Search

Background: Though predominantly an infection of children, respiratory syncytial virus (RSV) also infects adults, particularly those with immune compromise. Objectives: To define the clinical spectrum and impact of RSV pneumonitis on hospitalized, immunocompromised adults. Methods: Retrospective chart review. Clinical parameters including premorbid conditions, presentation, radiologic findings, treatment and outcome were examined in a consecutive patients series from an inpatient tertiary-care

Jon O. Ebbert; Andrew H. Limper

2005-01-01

361

Clinical features, EEG findings and diagnostic pitfalls in juvenile myoclonic epilepsy: a series of 63 patients  

Microsoft Academic Search

Juvenile myoclonic epilepsy (JME) is a common idiopathic generalized epileptic syndrome distinctively characterized by myoclonic jerks often associated to generalized tonic-clonic seizures (GTCS) and typical absence seizures. In spite of typical clinical and EEG profiles, JME is widely underdiagnosed. In the present study we retrospectively revised clinical and EEG data of JME patients referring to our Epilepsy Service. A diagnosis

Elisa Montalenti; Daniele Imperiale; Andrea Rovera; Bruno Bergamasco; Paolo Benna

2001-01-01

362

Carl F. Mela is the T. Austin Finch Foundation Professor of Marketing at Duke University. He holds an engineering degree from Brown University, and a Ph.D. in Marketing from Columbia University. Prior to  

E-print Network

and the American Marketing Association's William O'Dell and Paul Green Awards. Prof. Mela serves or has servedCarl F. Mela is the T. Austin Finch Foundation Professor of Marketing at Duke University. He holds an engineering degree from Brown University, and a Ph.D. in Marketing from Columbia University. Prior to his Ph

Reif, John H.

363

Clear cell acanthoma of the areola and nipple: clinical, histopathological, and immunohistochemical features of two Brazilian cases.  

PubMed

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

Veiga, Rossana Ruth Garcia da; Barros, Renata Silva; Santos, Josie Eiras Bisi dos; Abreu Junior, José Maria de Castro; Bittencourt, Maraya de Jesus Semblano; Miranda, Mario Fernando Ribeiro de

2013-01-01

364

[Analysis of the clinical, electrophysiological and genetic features of a family affected with hereditary neuropathy with liability to pressure palsies].  

PubMed

OBJECTIVE To delineate the clinical, electrophysiological and genetics features of a family where 4 members were affected with hereditary neuropathy with liability to pressure palsies (HNPP). METHODS Clinical features of the 4 patients were summarized. Electrophysiological examination and genetic analysis were carried out. RESULTS All of the patients showed recurrent motor and sensory disturbances after minor traction or constriction. Electrophysiology study revealed that the prolonged latency and reduced conduction velocity of peripheral nerve were general and with multiple sites of affection. The nerve locations liable to entrapment showed conduction block. A deletion mutation of peripheral myelin protein 22 (PMP22) gene was identified by genetic analysis. CONCLUSION HNPP usually affects areas where nerves are liable to entrapment, and presents with motor and sensory disturbances of the innervated areas. Electrophysiological study reveals general nervous demyelination. Genetic analysis can clarify the diagnosis of HNPP. PMID:25636095

Qi, Faying; Che, Fengyuan

2015-02-10

365

Clinical and echographic features of in utero cardiac dysfunction in the recipient twin in twin-twin transfusion syndrome  

Microsoft Academic Search

OBJECTIVE--Fetal twin-twin transfusion syndrome (TTTS) presenting in the second trimester has been associated with almost no perinatal survival until recently, when serial drainage of amniotic fluid has improved the prognosis to 70%-80%. Most recipient twins now survive but develop cardiac dysfunction. The study was undertaken to evaluate the abnormal echocardiographic features and clinical complications of cardiac disease in the recipient

N Zosmer; R Bajoria; E Weiner; M Rigby; J Vaughan; N M Fisk

1994-01-01

366

Bisphosphonates and Osteonecrosis of the Jaws: A Review of Clinical Features and the Drug Effect on Oral Soft Tissues  

Microsoft Academic Search

The beneficial effects of the nitrogen-containing bisphosphonate drugs have been clearly defined, especially for the treatment\\u000a for osteoporosis, metastatic or primary bone malignancies, and some rare bone diseases. The adverse effects of these drugs\\u000a on oral hard and soft tissues are significant and recognized with increasing frequency. The clinical, radiographic, and histopathologic\\u000a features of osteonecrosis of the jaws (ONJ) are

Jill M. Kramer; John E. Fantasia

2011-01-01

367

Prevalence and clinical features of lumbar zygapophysial joint pain: a study in an Australian population with chronic low back pain  

Microsoft Academic Search

OBJECTIVES--To determine the prevalence of pain arising from the zygapophysial joint in patients with chronic low back pain and to determine whether any clinical features could distinguish patients with and without such pain. METHODS--Sixty three patients with chronic low back pain were studied prospectively. All patients underwent a detailed history and physical examination as well as a series of intra-articular

A C Schwarzer; S C Wang; N Bogduk; P J McNaught; R Laurent

1995-01-01

368

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

369

Adult and juvenile dermatomyositis: are the distinct clinical features explained by our current understanding of serological subgroups and pathogenic mechanisms?  

PubMed Central

Adult and juvenile dermatomyositis share the hallmark features of pathognomic skin rash and muscle inflammation, but are heterogeneous disorders with a range of additional disease features and complications. The frequency of important clinical features such as calcinosis, interstitial lung disease and malignancy varies markedly between adult and juvenile disease. These differences may reflect different disease triggers between children and adults, but whilst various viral and other environmental triggers have been implicated, results are so far conflicting. Myositis-specific autoantibodies can be detected in both adults and children with idiopathic inflammatory myopathies. They are associated with specific disease phenotypes and complications, and divide patients into clinically homogenous subgroups. Interestingly, whilst the same autoantibodies are found in both adults and children, the disease features remain different within autoantibody subgroups, particularly with regard to life-threatening disease associations, such as malignancy and rapidly progressive interstitial lung disease. Our understanding of the mechanisms that underlie these differences is limited by a lack of studies directly comparing adults and children. Dermatomyositis is an autoimmune disease, which is believed to develop as a result of an environmental trigger in a genetically predisposed individual. Age-specific host immune responses and muscle physiology may be additional complicating factors that have significant impact on disease presentation. Further study into this area may produce new insights into disease pathogenesis. PMID:23566358

2013-01-01

370

Etiology of motor or sensory stroke: a prospective study of the predictive value of clinical and radiological features.  

PubMed

The diagnostic utility of clinical and radiological features for distinguishing penetrating artery disease from other causes of stroke has been questioned. To address this issue, we prospectively evaluated more than 40 features in 85 patients with pure motor, sensorimotor, or pure sensory syndromes. Nonischemic causes were present in 4 patients. The causes of ischemic stroke in the other 81 patients were penetrating artery disease (32 patients), large artery occlusive disease (17), cardioembolism (12), other causes (8), and undetermined (12). Of the features evaluated, frequent transient ischemic attacks (greater than or equal to 1/day), transient ischemic attacks occurring only within 1 week of stroke, pure motor hemiparesis (similar involvement of face, arm, and leg), pure sensory stroke, and round or oval infarction were associated (p less than 0.05) with penetrating artery disease. However, only pure sensory stroke involving two or more regions of the body and pure motor hemiparesis associated with subcortical infarction of less than 1.5 cm had positive predictive values exceeding 90% for penetrating artery disease. Carotid bruit ipsilateral to an anterior circulation infarction, monoparesis, and striatocapsular infarction had positive predictive values exceeding 90% for causes other than penetrating artery disease; however, half of the striatocapsular infarctions were of undetermined cause. These data suggest that certain clinical and radiological features are useful for distinguishing penetrating artery disease from other causes of stroke. PMID:1789681

Chimowitz, M I; Furlan, A J; Sila, C A; Paranandi, L; Beck, G J

1991-10-01

371

Clinical features of children and adolescents with obsessive-compulsive disorder and hoarding symptoms  

Microsoft Academic Search

ObjectiveThis study was conducted to examine whether pediatric patients with obsessive-compulsive disorder (OCD) and hoarding symptoms differed in terms of clinical characteristics from pediatric OCD patients without hoarding symptoms.

Eric A. Storch; Caleb W. Lack; Lisa J. Merlo; Gary R. Geffken; Marni L. Jacob; Tanya K. Murphy; Wayne K. Goodman

2007-01-01

372

Clinical features of Clostridium difficile infection and molecular characterization of the isolated strains in a cohort of Danish hospitalized patients.  

PubMed

The purpose of this study was to compare clinical features of Clostridium difficile infection (CDI) to toxin gene profiles of the strains isolated from Danish hospitalized patients. C. difficile isolates were characterized by PCR based molecular typing methods including toxin gene profiling and analysis of deletions and truncating mutations in the toxin regulating gene tcdC. Clinical features were obtained by questionnaire. Thirty percent of the CDI cases were classified as community-acquired. Infection by C. difficile with genes encoding both toxin A, toxin B and the binary toxin was significantly associated with hospital-acquired/healthcare-associated CDI compared to community-acquired CDI. Significantly higher leukocyte counts and more severe clinical manifestations were observed in patients infected by C. difficile containing genes also encoding the binary toxin together with toxin A and B compared to patients infected by C. difficile harbouring only toxin A and B. In conclusion, infection by C. difficile harbouring genes encoding both toxin A, toxin B and the binary toxin were associated with hospital acquisition, higher leukocyte counts and severe clinical disease. PMID:21744281

Søes, L M; Brock, I; Persson, S; Simonsen, J; Pribil Olsen, K E; Kemp, M

2012-02-01

373

Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene  

PubMed Central

Objectives Genetic Creutzfeldt-Jakob disease (CJD) due to V180I mutation in the prion protein gene (PRNP) is of great interest because of the differences from sporadic CJD and other genetic prion diseases in terms of clinical features, as well as pathological and biochemical findings. However, few systematic observations about the clinical features in patients with this unique mutation have been published. Therefore, the goal of this study was to relate this mutation to other forms of CJD from a clinical perspective. Design We analysed clinical symptoms, prion protein genetics, biomarkers in cerebrospinal fluid (CSF) and MRI of patients. Participants 186 Japanese patients with the V180I mutation in PRNP. Results Our results indicate that the V180I mutation caused CJD at an older age, with a slower progression and a lower possibility of developing myoclonus, cerebellar, pyramidal signs and visual disturbance compared with classical sporadic CJD with methionine homozygosity at codon 129 of PRNP. Cognitive impairment was the major symptom. Diffuse hyperintensity of the cerebral cortex in diffusion-weighted MRI might be helpful for diagnosis. Owing to the low positivity of PrPSc in the CSF, genetic analysis was often required for a differential diagnosis from slowly progressive dementia. Conclusions We conclude that the V180I mutation in PRNP produces a late-developing and slow-developing, less severe form of CJD, whose lesions are uniquely distributed compared with sporadic and other genetic forms of CJD. PMID:24838726

Qina, Temu; Sanjo, Nobuo; Hizume, Masaki; Higuma, Maya; Tomita, Makoto; Atarashi, Ryuichiro; Satoh, Katsuya; Nozaki, Ichiro; Hamaguchi, Tsuyoshi; Nakamura, Yosikazu; Kobayashi, Atsushi; Kitamoto, Tetsuyuki; Murayama, Shigeo; Murai, Hiroyuki; Yamada, Masahito; Mizusawa, Hidehiro

2014-01-01

374

Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene.  

PubMed

Oligophrenin-1 (OPHN-1) gene disruption is known as responsible for so called "non-specific" X-linked mental retardation (MR) Billuart et al. [1998: Nature 392:923-926]. In order to search for a possible specific clinical and radiological profile for mutation in the OPHN-1 gene, clinical and 3D brain MRI studies were performed in the two families with a known mutation in OPHN-1 reported so far: a 19-year-old female with an X;12 balanced translocation encompassing OPHN-1, and four affected males of family MRX60 sharing a frameshift mutation in OPHN-1. Clinical data shared by affected individuals were neonatal hypotonia with motor delay but no obvious ataxia, marked strabismus, early onset complex partial seizures, and moderate to severe MR. Brain MRIs performed in three individuals exhibited a specific vermian dysgenesis including an incomplete sulcation of anterior and posterior vermis with the most prominent defect in lobules VI and VII. In addition, a non-specific cerebral cortico-subcortical atrophy was also observed. These clinical and radiological features suggest a distinct clinico-radiological syndrome. These preliminary data need to be confirmed in other families and will be helpful for further targeted mutation screening of the OPHN-1 gene in male patients with similar clinico-radiological features. In addition, OPHN-1 inactivation should be considered as a relevant model of developmental vermis disorganization, leading to a better understanding of the possible role of the cerebellum in MR. PMID:14735583

des Portes, Vincent; Boddaert, Nathalie; Sacco, Silvia; Briault, Sylvain; Maincent, Kim; Bahi, Nadia; Gomot, Marie; Ronce, Nathalie; Bursztyn, Joseph; Adamsbaum, Catherine; Zilbovicius, Monica; Chelly, Jamel; Moraine, Claude

2004-02-01

375

A Comparison of Clinical Features between Community-Associated and Healthcare-Associated Methicillin-Resistant Staphylococcus aureus Keratitis  

PubMed Central

Purpose. To compare the clinical features of community-associated (CA) and healthcare-associated (HA) methicillin-resistant Staphylococcus aureus (MRSA) keratitis. Methods. Patients presenting with culture-proven MRSA keratitis between January 1, 2006, and December 31, 2010, at Chang Gung Memorial Hospital, Taiwan, were included in this study. The patients' demographic and clinical information were reviewed retrospectively. Antibiotic susceptibility was verified using the disk diffusion method. Results. Information on 26 patients with MRSA keratitis was collected, including 12 cases of CA-MRSA and 14 cases of HA-MRSA. All MRSA isolates were susceptible to vancomycin; the only difference in drug susceptibility was that CA-MRSA isolates were more susceptible to trimethoprim/sulfamethoxazole than HA-MRSA (P = .034). The most common risk factor for MRSA keratitis was ocular surface disease. No significant differences were observed between the 2 groups in terms of clinical features, treatments, and visual outcomes. Conclusion. In Taiwan, CA-MRSA rivals HA-MRSA as a critical cause of MRSA keratitis. Furthermore, CA-MRSA isolates are multidrug resistant. CA-MRSA and HA-MRSA keratitis are clinically indistinguishable, although larger studies are warranted to further evaluate this association. PMID:25653870

Ong, Sherine Jue; Chuang, Chih-Chun; Ma, David H. K.; Huang, Yhu-Chering

2015-01-01

376

Defining adult asthma endotypes by clinical features and patterns of volatile organic compounds in exhaled air.  

PubMed

BackgroundSeveral classifications of adult asthma patients using cluster analyses based on clinical and demographic information has resulted in clinical phenotypic clusters that do not address molecular mechanisms. Volatile organic compounds (VOC) in exhaled air are released during inflammation in response to oxidative stress as a result of activated leukocytes. VOC profiles in exhaled air could distinguish between asthma patients and healthy subjects. In this study, we aimed to classify new asthma endotypes by combining inflammatory mechanisms investigated by VOC profiles in exhaled air and clinical information of asthma patients.MethodsBreath samples were analyzed for VOC profiles by gas chromatography¿mass spectrometry from asthma patients (n¿=¿195) and healthy controls (n¿=¿40). A total of 945 determined compounds were subjected to discriminant analysis to find those that could discriminate healthy from asthmatic subjects. 2-step cluster analysis based on clinical information and VOCs in exhaled air were used to form asthma endotypes.ResultsWe identified 16 VOCs, which could distinguish between healthy and asthma subjects with a sensitivity of 100% and a specificity of 91.1%. Cluster analysis based on VOCs in exhaled air and the clinical parameters FEV1, FEV1 change after 3 weeks of hospitalization, allergic sensitization, Junipers symptoms score and asthma medications resulted in the formation of 7 different asthma endotype clusters. We identified asthma clusters with different VOC profiles but similar clinical characteristics and endotypes with similar VOC profiles, but distinct clinical characteristics.ConclusionThis study demonstrates that both, clinical presentation of asthma and inflammatory mechanisms in the airways should be considered for classification of asthma subtypes. PMID:25431084

Meyer, Norbert; Dallinga, Jan W; Nuss, Sarah; Moonen, Edwin; van Berkel, Joep; Akdis, Cezmi; van Schooten, Frederik; Menz, Günter

2014-11-28

377

Clinical features of crimean-congo haemorrhagic fever in the united arab emirates  

Microsoft Academic Search

Summary Crimean-Congo haemorrhagic fever (C-CHF) re-emerged recently in the United Arab Emirates. The clinical outcome of 11 cases of viral haemorrhagic fever patients admitted to hospital between June 1994 and January 1995 is described. Four cases were laboratory confirmed retrospectively as C-CHF, the other patients were diagnosed likely to have the same disease on epidemiological and clinical grounds. In 72.7%

T. F. Schwarz; H. Nsanze; A. M. Ameen

1997-01-01

378

Clinical Features of Wrist Drop Caused by Compressive Radial Neuropathy and Its Anatomical Considerations  

PubMed Central

Objective Posture-induced radial neuropathy, known as Saturday night palsy, occurs because of compression of the radial nerve. The clinical symptoms of radial neuropathy are similar to stroke or a herniated cervical disk, which makes it difficult to diagnose and sometimes leads to inappropriate evaluations. The purpose of our study was to establish the clinical characteristics and diagnostic assessment of compressive radial neuropathy. Methods Retrospectively, we reviewed neurophysiologic studies on 25 patients diagnosed with radial nerve palsy, who experienced wrist drop after maintaining a certain posture for an extended period. The neurologic presentations, clinical prognosis, and electrophysiology of the patients were obtained from medical records. Results Subjects were 19 males and 6 females. The median age at diagnosis was 46 years. The right arm was affected in 13 patients and the left arm in 12 patients. The condition was induced by sleeping with the arms hanging over the armrest of a chair because of drunkenness, sleeping while bending the arm under the pillow, during drinking, and unknown. The most common clinical presentation was a wrist drop and paresthesia on the dorsum of the 1st to 3rd fingers. Improvement began after a mean of 2.4 weeks. Electrophysiologic evaluation was performed after 2 weeks that revealed delayed nerve conduction velocity in all patients. Conclusion Wrist drop is an entrapment syndrome that has a good prognosis within several weeks. Awareness of its clinical characteristics and diagnostic assessment methods may help clinicians make diagnosis of radial neuropathy and exclude irrelevant evaluations. PMID:24851150

Han, Bo Ram; Yang, Jin Seo; Kang, Suk Hyung; Choi, Hyuk Jai

2014-01-01

379

Antiphospholipid syndrome in northwest Italy (APS Piedmont Cohort): demographic features, risk factors, clinical and laboratory profile.  

PubMed

We report the experience from the Antiphospholipid Antibodies (aPL) Regional Consortium in northwest Italy, meant to support clinical research and foster collaboration among health professionals regarding the diagnosis and management of antiphospholipid syndrome (APS) patients. This cohort-study (APS Piedmont Cohort) was designed to register the clinical characteristics at inception and associated immunological manifestations at diagnosis (if any) of patients who strictly fulfilled the current criteria for APS, all recruited at the Piedmont and Valle d'Aosta regions. Clinical and laboratory data from 217 APS patients (171 with vascular events, 33 with pregnancy morbidity and 13 with both), from 16 centres within the geographical area were collected. Venous thrombosis was recorded in 45.6% of patients, arterial thrombosis in 35%, small-vessel thrombosis in 1.12% and mixed arterial and venous thrombosis in the remaining 19.4% of the cases. Pregnancy morbidity included 19 patients with unexplained fetal death beyond the 10th week of pregnancy, 17 with premature birth before the 34th week and 10 with three or more unexplained spontaneous abortions before the 10th week of gestation. This consortium represents an instrument by which to audit clinical practice, to provide counselling to local centres and to sustain future basic and clinical APS research. PMID:22635240

Bertero, M T; Bazzan, M; Carignola, R; Montaruli, B; Silvestro, E; Sciascia, S; Vaccarino, A; Baldovino, S; Roccatello, D

2012-06-01

380

Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson's disease.  

PubMed

The authors report a 44-year-old man with a history of attention deficit and hyperactivity disorder, obsessive compulsive behaviour, vocal tics, depression, and anxiety, in whom a compound heterozygous ATP7B mutation was found, associated with hypoceruloplasminemia, but without clinical or pathological manifestation of Wilson's disease (WD). Genetic testing revealed a compound heterozygous ATP7B mutation already described in WD, p.Met645Arg (C1934TG/c.51+4A?T). Hypoceruloplasminaemia was detected but no clinical manifestations (hepatic or central nervous system) of WD were present. The authors conclude that patients can carry a heterozygous mutation of the ATP7B gene that is associated with hypoceruloplasminaemia and display no overt clinical hepatic and/or central nervous system manifestations of WD. PMID:23962630

Arruda, Walter O; Munhoz, Renato P; de Bem, Ricardo S; Deguti, Marta M; Barbosa, Egberto Reis; Zavala, Jorge A; Teive, Hélio A G

2014-02-01

381

Epiploic appendagitis: A case report highlighting correlation between clinical features, computed tomography images and laparoscopic findings  

Microsoft Academic Search

We present a case of a 72 year old male patient, who presented to the emergency department with a 2 day history of right iliac fossa pain. On examination he was apyrexial and haemodynamically stable, yet displayed signs of right iliac fossa peritonism. Inflammatory markers were mildly raised.Computed tomography and diagnostic laparoscopy both demonstrated typical features of epiploic appendagitis.Epiploic appendagitis

J. Bunni; A. Corrigan; K. Jacob; M. Schuijtvlot

2010-01-01

382

Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is  

E-print Network

or congenital onset) Males with moderate to severe, non-specific mental retardation and encephalopathy Males with features similar to classic Rett syndrome Families with X-linked mental retardation o ~2% of males with X-linked mental retardation have mutations in MeCP2 [4] o Four male patients with severe mental retardation

Ober, Carole

383

Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is  

E-print Network

or congenital onset) · Males with moderate to severe, non-specific mental retardation and encephalopathy · Males with features similar to classic Rett syndrome · Families with X-linked mental retardation o ~2% of males with X-linked mental retardation have mutations in MeCP2 [4] o Four male patients with severe mental retardation

Gilad, Yoav

384

Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is  

E-print Network

or congenital onset) Males with moderate to severe, non-specific mental retardation and encephalopathy Males with features similar to classic Rett syndrome Families with X-linked mental retardation o ~2% of males with X-linked mental retardation have mutations in MeCP2 (4) o Four male patients with severe mental retardation

Das, Soma

385

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

386

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

387

Childhood Behcet's disease: clinical features and comparison with adult- onset disease  

Microsoft Academic Search

Objective. To study the clinical spectrum of Behcet's disease (BD) in childhood, in comparison to adult-onset disease. Methods. Nineteen children, who fulfilled disease criteria up to the age of 16 yr, were studied. The results were compared to those of 34 adult patients with BD. An activity index and severity score were calculated for both study groups. Results. The mean

I. Krause; Y. Uziel; D. Guedj; M. Mukamel; L. Harel; Y. Molad; A. Weinberger

1999-01-01

388

Clinical features of Behçet's disease in children: An international collaborative study of 86 cases  

Microsoft Academic Search

Objectives: The objective of this study was to characterize the clinical picture of Behçet's disease (BD) in children. Study design: A questionnaire was completed by five BD specialists from Turkey, France, Iran, or Saudi Arabia. We first reviewed 86 cases retrospectively with a specially designed computerized database and then selected 65 who met the criteria of the International Study Group

Isabelle Koné-Paut; Sebahattin Yurdakul; Sultan A. Bahabri; Nahid Shafae; Seza Ozen; Huri Özdogan; Jean Louis Bernard

1998-01-01

389

Neck circumference and other clinical features in the diagnosis of the obstructive sleep apnoea syndrome  

Microsoft Academic Search

BACKGROUND: Neck circumference has been suggested to be more predictive of obstructive sleep apnoea than general obesity, but the statistical validity of this conclusion has been questioned. Combining neck circumference with other signs and symptoms may allow the clinical diagnosis or exclusion of sleep apnoea to be made with reasonable confidence. This study examines these issues. METHODS: One hundred and

R J Davies; N J Ali; J R Stradling

1992-01-01

390

Emergence of vancomycin-intermediate Staphylococcus aureus in a Belgian hospital: microbiological and clinical features  

Microsoft Academic Search

In 1999, all clinical Staphylococcus aureus isolates from patients admitted to a Belgian University hospital were tested for decreased vancomycin susceptibility. Three vancomycin- intermediate Staphylococcus aureus (VISA) and four hetero-VISA strains were detected among 2145 isolates tested. They emerged from strains that belonged to locally endemic methicillin- resistant S. aureus (MRSA) genotypes in three patients who had received repeated courses

Olivier Denis; Claire Nonhoff; Baudouin Byl; Christiane Knoop; Sophie Bobin-Dubreux; Marc J. Struelens

391

Clinical Characteristics, Outcomes, and Microbiologic Features Associated with Methicillin-Resistant Staphylococcus aureus Bacteremia in Pediatric Patients Treated with Vancomycin ?  

PubMed Central

Vancomycin is the first-line therapy for methicillin-resistant Staphylococcus aureus (MRSA) bacteremia, but its efficacy in adult patients has been questioned. Less is known about the outcomes of MRSA bacteremia treated with vancomycin in pediatric patients. This study reviews the outcomes and clinical characteristics of MRSA bacteremia in children treated with vancomycin and characterizes the microbiologic and molecular features of the bloodstream isolates. A retrospective cohort study was conducted among pediatric patients with MRSA bacteremia treated with vancomycin for >5 days from 1 August 2005 to 31 May 2007 in a large tertiary care center. MRSA bloodstream isolates were characterized by antimicrobial susceptibility testing, PCR analysis of virulence genes, and Diversilab typing. Clinical records were reviewed for outcomes and comorbidities. A total of 22 pediatric patients with MRSA bacteremia were identified. Eleven cases (50.0%) were considered vancomycin treatment failures. Features significantly associated with vancomycin treatment failure were prematurity (P = 0.02) and isolates positive for Panton-Valentine leukocidin (PVL) (P = 0.008). Features typically associated with community-associated MRSA strains were identified in hospital-associated isolates. A dominant clone was not responsible for the high number of treatment failures. Further studies are needed to determine if vancomycin should be the first-line treatment for MRSA bacteremia in premature infants and for PVL-positive isolates. PMID:20089758

Welsh, Kerry J.; Abbott, April N.; Lewis, Evan M.; Gardiner, Jeanelle M.; Kruzel, Mark C.; Lewis, Cole T.; Mohr, John F.; Wanger, Audrey; Armitige, Lisa Y.

2010-01-01

392

A severe course of Cronkhite-Canada syndrome and the review of clinical features and therapy in 49 Chinese patients.  

PubMed

We describe a severe case of Cronkhite-Canada syndrome and review the clinical features and therapy in 49 Chinese patients. A 67-year-old man who underwent severe chronic diarrhea had typical clinical manifestations of hyperpigmentation, hair loss, and dystrophic changes in the fingernails. Although sufficient nutrition support and other therapies reported in the literature were provided, the patient died of systemic failure one year later. Cronkhite-Canada syndrome is characterized by generalized gastrointestinal polyps associated with hyperpigmentation, hair loss, and onycholysis. Anemia, positive stool occult blood, serum electrolyte disturbances, and low serum proteins are the main clinical features of patients with Cronkhite-Canada syndrome. Most patients were diagnosed by esophagogastroduodenoscopy and/or colonoscopy, and polyps were found in the entire alimentary tract, except the notable exception of the esophagus. The polyp-like samples of mucosa, hyperplasia, and adenoma were characterized by acute/chronic inflammation. Four cases were complicated with cancer. The treatment of Cronkhite-Canada syndrome includes symptomatic and support therapy, administration of corticosteroids, antibiotics and acid inhibitors, therapeutic endoscopy, and surgery. While the mortality rate was reported as 47.3% (9/19), some patients may live a long life with controlled symptoms. PMID:24226722

She, Qiang; Jiang, Jian-Xia; Si, Xin-Min; Tian, Xue-Ying; Shi, Rui-Hua; Zhang, Guo-Xin

2013-01-01

393

Plasma cell balanitis: clinical and histopathological features--response to circumcision.  

PubMed Central

OBJECTIVE--To evaluate the clinicopathological features and response to circumcision in patients with plasma cell balanitis. SUBJECTS AND METHOD--32 uncircumcised men with penile lesions typical of plasma cell balanitis. Twenty specimens were available for histopathology. RESULTS--Lesions involved prepuce and glans in 17, prepuce only in 10 and in 5 were localised to glans alone or extended to coronal sulcus. Histopathology showed variable features but were consistent with the diagnosis of plasma cell balanitis. Haemosiderin pigment could be detected in only three specimens of patients with shorter duration of the disease. Twenty seven patients were treated with circumcision and no recurrence was noticed in 3 years of follow up. CONCLUSION--Circumcision is an effective treatment modality in plasma cell balanitis. Absence of haemosiderin pigment in majority of tissue sections is difficult to explain but may be related to longer duration of the disease. Images PMID:7750950

Kumar, B; Sharma, R; Rajagopalan, M; Radotra, B D

1995-01-01

394

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. PMID:25232315

Fujimura, Taku; Tagami, Hachiro; Aiba, Setsuya

2014-01-01

395

Gastric Intestinal Metaplasia in an Underserved Population in the USA: Prevalence, Epidemiologic and Clinical Features  

PubMed Central

Gastric intestinal metaplasia is an important stage in the development of gastric cancer. Limited data is available regarding the prevalence of gastric intestinal metaplasia in the United States. We conducted a retrospective review of esophagogastroduodenoscopies performed in our endoscopy unit between the months of April and October 2010 to evaluate the prevalence and the epidemiologic and endoscopic features of gastric intestinal metaplasia in an underserved population in the United States. PMID:24235966

2013-01-01

396

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

397

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

398