Trisomy 18 mosaicism in a woman with normal intelligence, pigmentary dysplasia, and an 18 trisomic daughter

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ukita, Masahiko; Hasegawa, Masaaki; Nakahori, Takashi

1997-01-20

Survival beyond the age of 10 years is rare among 18-trisomic individuals. Most of these long-term survivors, when more than one tissue is studied, are normal/trisomy mosaics. They are usually mentally severely retarded with a variety of anomalies. There is another group of mosaic individuals: 7 women and a 13-year-old girl, with a low frequency of 18-trisomic cells, normal or mildly retarded intelligence, and minor anomalies. Two of them were diagnosed after delivering malformed stillborn infants. One of them was the mother of a trisomy 18 patient who was coincidentally found to have trisomy 18 mosaicism. Pigmentary dysplasia, previously calledmore » hypomelanosis of Ito, is a disorder with linear, swirly, or patchy, hypo- or hyperpigmented areas of skin, resulting from migration and interaction of melanoblasts of different pigmentary potential. The disorder is often accompanied by mosaic chromosomal abnormalities, including mosaic trisomy 18. Here we report a 26-year-old woman with low frequency trisomy 18 mosaicism, normal intelligence, and pigmentary dysplasia, who gave birth to an 18-trisomic girl. 12 refs., 1 fig.« less

Development of a quantitative assessment method of pigmentary skin disease using ultraviolet optical imaging.

PubMed

Lee, Onseok; Park, Sunup; Kim, Jaeyoung; Oh, Chilhwan

2017-11-01

The visual scoring method has been used as a subjective evaluation of pigmentary skin disorders. Severity of pigmentary skin disease, especially melasma, is evaluated using a visual scoring method, the MASI (melasma area severity index). This study differentiates between epidermal and dermal pigmented disease. The study was undertaken to determine methods to quantitatively measure the severity of pigmentary skin disorders under ultraviolet illumination. The optical imaging system consists of illumination (white LED, UV-A lamp) and image acquisition (DSLR camera, air cooling CMOS CCD camera). Each camera is equipped with a polarizing filter to remove glare. To analyze images of visible and UV light, images are divided into frontal, cheek, and chin regions of melasma patients. Each image must undergo image processing. To reduce the curvature error in facial contours, a gradient mask is used. The new method of segmentation of front and lateral facial images is more objective for face-area-measurement than the MASI score. Image analysis of darkness and homogeneity is adequate to quantify the conventional MASI score. Under visible light, active lesion margins appear in both epidermal and dermal melanin, whereas melanin is found in the epidermis under UV light. This study objectively analyzes severity of melasma and attempts to develop new methods of image analysis with ultraviolet optical imaging equipment. Based on the results of this study, our optical imaging system could be used as a valuable tool to assess the severity of pigmentary skin disease. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Pigmentary maculopathy in a patient with Wolfram syndrome.

PubMed

Dhalla, Mandeep S; Desai, Uday R; Zuckerbrod, Daniel S

2006-02-01

We describe a rare association of pigmentary maculopathy with Wolfram syndrome not previously reported in the literature. A 12-year-old boy presented to the retina service with a diagnosis of Wolfram syndrome and a history of poor central vision. The patient was found to have bilateral atrophic pigmentary maculopathy that was confirmed with fluorescein angiography. Wolfram syndrome may present with a pigmentary maculopathy and this rare finding may assist the clinician in making appropriate genetic referral when this diagnosis is suspected.

Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation.

PubMed

Sue, C M; Mitchell, P; Crimmins, D S; Moshegov, C; Byrne, E; Morris, J G

1997-10-01

Fourteen patients from four unrelated families were studied to determine the prevalence of retinal pigmentary abnormalities associated with the MELAS A to G 3243 point mutation. Neurologic and ophthalmic examinations, retinal photography, pattern shift visual evoked potentials, and electroretinography were performed in all patients. Eight of the 14 patients had retinal pigmentary abnormalities characterized by symmetric areas of depigmentation involving predominantly the posterior pole and midperipheral retina. None of the patients had optic atrophy and only one patient with pigmentary retinal abnormalities had impaired visual acuity. None of the diabetic subjects (n = 6) had signs of diabetic retinopathy. Fluorescein angiography demonstrated mottled hyper- and hypofluorescent areas indicating multiple window defects in the retinal pigmentary epithelium. Visual evoked potentials showed delayed P100 responses in four of the eight patients with retinal pigmentary abnormalities. We conclude that there is a high prevalence of retinal pigmentary abnormalities in patients with MELAS A to G 3243 point mutation. These abnormalities are usually asymptomatic and best detected by retinal photography.

What is the risk of developing pigmentary glaucoma from pigment dispersion syndrome?

PubMed

Siddiqui, Yasmin; Ten Hulzen, Richard D; Cameron, J Douglas; Hodge, David O; Johnson, Douglas H

2003-06-01

To determine the probability of converting from pigment dispersion syndrome to pigmentary glaucoma. Retrospective community-based study of all newly diagnosed cases of pigment dispersion syndrome or pigmentary glaucoma. Subjects were patients newly diagnosed with pigment dispersion syndrome or pigmentary glaucoma from 1976 to 1999 in Olmsted County, Minnesota. Criteria for pigment dispersion syndrome were two of three signs: midperipheral, radial iris transillumination defects; Krukenberg spindle; heavy trabecular meshwork pigmentation. Criteria for pigmentary glaucoma were pigment dispersion syndrome and two of three findings: intraocular pressure (IOP) greater than 21 mm, optic nerve damage, or visual field loss. Kaplan-Meier survival curves were used to determine the probability of conversion to pigmentary glaucoma. A total of 113 patients were newly diagnosed with pigment dispersion syndrome over the 24-year period. Of these, 9 persons developed pigmentary glaucoma or elevated IOP requiring therapy. The probability of converting to pigmentary glaucoma was 10% at 5 years and 15% at 15 years. An additional 23 patients were found to have pigmentary glaucoma at their initial examination. The mean age at diagnosis of pigmentary glaucoma was 42 +/- 12 years; 78% of patients were male, whereas 58% of patients with pigmentary dispersion syndrome glaucoma were male. The most significant risk factor for conversion to pigmentary glaucoma was an IOP greater than 21 mm Hg at initial examination, whereas age, refractive error, and family history of glaucoma were not correlated with conversion. The risk of developing pigmentary glaucoma from pigment dispersion syndrome was 10% at 5 years and 15% at 15 years. Young, myopic men were most likely to have pigmentary glaucoma. An IOP greater than 21 mm Hg at initial examination was associated with an increased risk of conversion.

Peripheral iridotomy for pigmentary glaucoma

PubMed Central

Michelessi, Manuele; Lindsley, Kristina

2016-01-01

Background Glaucoma is a chronic optic neuropathy characterized by retinal ganglion cell death resulting in damage to the optic nerve head and the retinal nerve fiber layer. Pigment dispersion syndrome is characterized by a structural disturbance in the iris pigment epithelium (the densely pigmented posterior surface of the iris) that leads to dispersion of the pigment and its deposition on various structures within the eye. Pigmentary glaucoma is a specific form of open-angle glaucoma found in patients with pigment dispersion syndrome. Topcial medical therapy is usually the first-line treatment; however, peripheral laser iridotomy has been proposed as an alternate treatment. Peripheral laser iridotomy involves creating an opening in the iris tissue to allow drainage of fluid from the posterior chamber to the anterior chamber and vice versa. Equalizing the pressure within the eye may help to alleviate the friction that leads to pigment dispersion and prevent visual field deterioration. However, the effectiveness of peripheral laser iridotomy in reducing the development or progression of pigmentary glaucoma is unknown. Objectives The objective of this review was to assess the effects of peripheral laser iridotomy compared with other interventions, including medication, trabeculoplasty, and trabeculectomy, or no treatment, for pigment dispersion syndrome and pigmentary glaucoma. Search methods We searched a number of electronic databases including CENTRAL, MEDLINE and EMBASE and clinical trials websites such as (mRCT) and ClinicalTrials.gov. We last searched the electronic databases on 2 November 2015. Selection criteria We included randomized controlled trials (RCTs) that had compared peripheral laser iridotomy versus no treatment or other treatments for pigment dispersion syndrome and pigmentary glaucoma. Data collection and analysis We used standard methodological procedures for systematic reviews. Two review authors independently screened articles for eligibility

[Retinal pigmentary degeneration--clinical features, diagnostics and possibilities of treatment].

PubMed

Grześk, Magdalena; Malukiewicz-Wiśniewska, Grazyna

2007-01-01

The purpose of this study was to evaluate clinical course of retinitis pigmentosa taking into consideration models of inheritance and possible treatment. Retinitis pigmentosa belongs to heterogeneous group of hereditary disorders, which are connected with gradual loss of the photoreceptor function, firstly rod cells subsequently cones, which is accompanied by the retinal pigmentary epithelium disorder. Retinitis pigmentosa connected with X chromosome is one of the most severe form of this disease that in polish population takes place with frequency at average 10-15% which is similar to ADRP--10-20%. Course of RP, despite many similarities may differ from each other and prognosis depends on model of inheritance. Unfortunately, in spite of many efforts, nowadays medicine do not have successful treatment for patients with RP.

9 CFR 311.13 - Pigmentary conditions; melanosis, xanthosis, ochronosis, etc.

Code of Federal Regulations, 2010 CFR

2010-01-01

... 9 Animals and Animal Products 2 2010-01-01 2010-01-01 false Pigmentary conditions; melanosis, xanthosis, ochronosis, etc. 311.13 Section 311.13 Animals and Animal Products FOOD SAFETY AND INSPECTION... ADULTERATED CARCASSES AND PARTS § 311.13 Pigmentary conditions; melanosis, xanthosis, ochronosis, etc. (a...

Bilateral nanophthalmos and pigmentary retinal dystrophy--an unusual syndrome.

PubMed

Proença, Helena; Castanheira-Dinis, A; Monteiro-Grillo, M

2006-09-01

To report the clinical picture of the rare association of nanophthalmos and pigmentary retinal dystrophy and its cataract surgery outcome. We report a case of a 60-year-old female who presented with bilateral slowly progressive visual loss. The patient presented with bilateral light perception visual acuity, exotropia, brunescent cataract hindering fundus examination and hypodontia. Ultrasonography revealed bilateral nanophthalmos. A visual-evoked potential was also performed preoperatively. Cataract surgery with +40D IOL implantation was uneventful. Postoperative fundus examination revealed pigmentary retinal dystrophy, confirmed by electrophysiologic tests. Glycosaminoglycan urinary excretion was normal. Congenital bilateral nanophthalmos may rarely be associated with pigmentary retinal dystrophy. We suggest thorough preoperative evaluation in nanophthalmic eyes for the exclusion of significant features concerning visual prognosis.

Retinal pigmentary changes in chronic uveitis mimicking retinitis pigmentosa.

PubMed

Sevgi, D Damla; Davoudi, Samaneh; Comander, Jason; Sobrin, Lucia

2017-09-01

To present retinal pigmentary changes mimicking retinitis pigmentosa (RP) as a finding of advanced uveitis. We retrospectively reviewed charts of patients without a family history of inherited retinal degenerations who presented with retinal pigment changes and signs of past or present intraocular inflammation. Comprehensive eye examination including best-corrected visual acuity, slit-lamp examination and dilated fundus examination was performed on all patients in addition to color fundus photography, optical coherence tomography, fluorescein angiography (FA), and full-field electroretinogram testing. We identified five patients with ages ranging from 33 to 66 years, who presented with RP-like retinal pigmentary changes which were eventually attributed to longstanding uveitis. The changes were bilateral in three cases and unilateral in two cases. Four of five cases presented with active inflammation, and the remaining case showed evidence of active intraocular inflammation during follow-up. This study highlights the overlapping features of advanced uveitis and RP including the extensive pigmentary changes. Careful review of possible past uveitis history, detailed examination of signs of past or present inflammation and ancillary testing, with FA often being most helpful, are required for the correct diagnosis. This is important, because intervention can prevent further damage if the cause of the pigmentary changes is destructive inflammation.

Curvilinear pigmentary lesions in a rod-cone dystrophy.

PubMed

Tamaki, Y; Sawa, M; Yannuzzi, L A

2005-01-01

To report a peculiar curvilinear pigmentary lesion in the peripheral fundus in a rod-cone dystrophy. Observational case report. Fundus examination of a 57-year-old woman who was known to have a generalized rod-cone dystrophy since she was 8 years old. The peripheral fundus examination revealed a curvilinear lesion which resembles a well-known finding associated with a presumed ocular histoplasmosis syndrome or multifocal choroiditis. The differential diagnosis of a peculiar curvilinear pigmentary lesion in the peripheral fundus may be expanded to include a generalized rod-cone dystrophy.

Determination Of Association Of Pigmentary Glaucoma With Pigment Dispersion Syndrome.

PubMed

Shah, Imtiaz Ali; Shah, Shujaat Ali; Nagdev, Partab Rai; Abbasi, Safdar Ali; Abbasi, Naeem Ali; Katpar, Safdar Akhtar

2017-01-01

Pigment Dispersion Syndrome (PDS) is an autosomal dominant disorder of white males between 20 to 40 years of age characterized by deposition of pigment on the lens, zonules of lens, trabecular meshwork and corneal endothelium (Krukenberg's spindle) in addition to radial, spoke like transillumination defects in the mid peripheral iris. This study was conducted to determine the frequency of occurrence of Pigmentary Glaucoma in patients with Pigment Dispersion Syndrome (PDS). This longitudinal follow up study included patients presenting with Krukenberg's spindle on the endothelial side of cornea and pigmentation of angle of anterior chamber seen on slit lamp examination and gonioscopy. Seventy-two cases of PDS were included in the study, amongst them 63 (87.50%) were males. Mean age was 35.00±6.54 years (range 24-46 years). Forty-seven (65.28%) patients had an IOP in the range of 10-14 mmHg, 22 (30.56%) patients had an IOP in the range of 15-18 mmHg and 3 (4.17%) patients developed an IOP of greater than 19 mmHg. Fundoscopy showed myopic degeneration in 49 (68.06%) patients and optic disc cupping in 3 (4.17%) patients. Four (5.56%) patients had refractive error between +1D to +3D, 9 (12.50%) patients had refractive error between -1D to -4D, 21 (29.17%) patients had refractive error between -5 D to -8 D and 38 (52.78%) patients had refractive error between -9 D to -12 D. Our study showed that one patient having PDS developed glaucoma at 5 years of follow up and three patients developed glaucoma at 14 years of follow up. On the basis of this study we conclude that early onset primary open angle glaucoma associated with PDS or Juvenile glaucoma associated with PDS might have been mistaken as Pigmentary Glaucoma in Pakistani patients and a distinct entity in the form of Pigmentary Glaucoma may be non-existent.

Pigment dispersion syndrome and pigmentary glaucoma--a major review.

PubMed

Niyadurupola, Nuwan; Broadway, David C

2008-12-01

Pigment dispersion syndrome (PDS) is an interesting condition that can lead to secondary open angle glaucoma. Pigmentary glaucoma is primarily a disease of young people, myopes and men. PDS is characterized by the presence of Krukenberg spindles, iris trans-illumination defects, trabecular meshwork pigmentation and backward bowing of the iris. Posterior bowing of the iris causes rubbing of the pigmented iris epithelium against lens structures, liberation of pigment and trabecular meshwork changes that result in reduced aqueous outflow with the risk of glaucoma. Peripheral laser iridotomy can reverse backward bowing of the iris and may prevent progression of pigmentary glaucoma.

[Acquired disorders of color vision].

PubMed

Lascu, Lidia; Balaş, Mihaela

2002-01-01

This article is a general view of acquired disorders of color vision. The revision of the best known methods and of the etiopathogenic classification is not very important in ophthalmology but on the other hand, the detection of the blue defect advertise and associated ocular pathology. There is a major interest in serious diseases as multiple sclerosis, AIDS, diabetes melitus, when the first ocular sign can be a defect in the color vision.

Disparity in Cutaneous Pigmentary Response to LED vs Halogen Incandescent Visible Light: Results from a Single Center, Investigational Clinical Trial Determining a Minimal Pigmentary Visible Light Dose.

PubMed

Soleymani, Teo; Cohen, David E; Folan, Lorcan M; Okereke, Uchenna R; Elbuluk, Nada; Soter, Nicholas A

2017-11-01

Background: While most of the attention regarding skin pigmentation has focused on the effects of ultraviolet radiation, the cutaneous effects of visible light (400 to 700nm) are rarely reported. The purpose of this study was to investigate the cutaneous pigmentary response to pure visible light irradiation, examine the difference in response to different sources of visible light irradiation, and determine a minimal pigmentary dose of visible light irradiation in melanocompetent subjects with Fitzpatrick skin type III - VI. The study was designed as a single arm, non-blinded, split-side dual intervention study in which subjects underwent visible light irradiation using LED and halogen incandescent light sources delivered at a fluence of 0.14 Watts/cm2 with incremental dose progression from 20 J/cm2 to 320 J/cm2. Pigmentation was assessed by clinical examination, cross-polarized digital photography, and analytic colorimetry. Immediate, dose-responsive pigment darkening was seen with LED light exposure in 80% of subjects, beginning at 60 Joules. No pigmentary changes were seen with halogen incandescent light exposure at any dose in any subject. This study is the first to report a distinct difference in cutaneous pigmentary response to different sources of visible light, and the first to demonstrate cutaneous pigment darkening from visible LED light exposure. Our findings raise the concern that our increasing daily artificial light surroundings may have clandestine effects on skin biology.

J Drugs Dermatol. 2017;16(11):1105-1110.

RADIOPHOSPHORUS IN THE DIFFERENTIAL DIAGNOSIS OF PIGMENTARY NEOPLASMS OF THE EYE (in Russian)

DOE Office of Scientific and Technical Information (OSTI.GOV)

Voznyuk, E.I.; Grusha, O.V.

Radiophosphorus was used for the diagnosis of pigmentary formattons of the eye tn 38 patients. A negative radiological test was obtatned tn 24 patients. Dynamic clinical observations confirmed the absence of malignization of the pigmentary formation. In 15 patients the radiological test was positive. It ts concluded that the technique may be useful for the detection of early forms of malignization of the nevus. (auth)

Disease course of patients with unilateral pigmentary retinopathy.

PubMed

Potsidis, Emorfily; Berson, Eliot L; Sandberg, Michael A

2011-11-29

To evaluate the change in ocular function by eye in patients with unilateral pigmentary retinopathy. Longitudinal regression was used to estimate mean exponential rates of change in Goldmann visual field area (V4e white test light) and in full-field electroretinogram (ERG) amplitudes to 0.5- and 30-Hz white flashes in 15 patients with unilateral pigmentary retinopathy. Snellen visual acuity was assessed case by case. Mean annual rates of change for the affected eyes were -4.9% for visual field area, -4.7% for ERG amplitude to 0.5-Hz flashes, and -4.6% for ERG amplitude to 30-Hz flashes. All three rates were faster than the corresponding age-related rates of change for the fellow normal eyes (P = 0.0006, P = 0.003, P = 0.03, respectively). An initial cone ERG implicit time to 30-Hz flashes in affected eyes ≥ 40 ms predicted a faster mean rate of decline of visual field area and of ERG amplitude to 0.5- and 30-Hz flashes (P < 0.0001 for all three measures). The visual acuity of affected eyes was more likely to decrease in patients presenting at >35 years of age than in patients presenting at a younger age (P = 0.0004). The affected eye in unilateral pigmentary retinopathy shows a progressive loss of peripheral retinal function that cannot be attributed to aging alone and that is faster in eyes with a more prolonged initial cone ERG implicit time. Patients presenting at >35 years of age are at greater risk for losing visual acuity.

A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.

PubMed

Abdel-Salam, Ghada M H; Miyake, Noriko; Eid, Maha M; Abdel-Hamid, Mohamed S; Hassan, Nihal A; Eid, Ola M; Effat, Laila K; El-Badry, Tarek H; El-Kamah, Ghada Y; El-Darouti, Mohamed; Matsumoto, Naomichi

2011-11-01

The designation microcephalic osteodysplastic primordial dwarfism (MOPD) refers to a group of autosomal recessive disorders, comprising microcephaly, growth retardation, and a skeletal dysplasia. The different types of MOPD have been delineated on the basis of clinical, radiological, and genetic criteria. We describe two brothers, born to healthy, consanguineous parents, with intrauterine and postnatal growth retardation, microcephaly with abnormal gyral pattern and partial agenesis of corpus callosum, and skeletal anomalies reminiscent of those described in MOPD type I. This was confirmed by the identification of the homozygous g.55G > A mutation of RNU4ATAC encoding U4atac snRNA. The sibs had yellowish-gray hair, fair skin, and deficient retinal pigmentation. Skin biopsy showed abnormal melanin function but OCA genes were normal. The older sib had an intracranial hemorrhage at 1 week after birth, the younger developed chilblains-like lesions at the age 2½ years old but analysis of the SAMHD1 and TREX1 genes did not show any mutations. To the best of our knowledge, vasculopathy and pigmentary disorders have not been reported in MOPD I. Copyright © 2011 Wiley Periodicals, Inc.

Posterior microphthalmos pigmentary retinopathy syndrome.

PubMed

Pehere, Niranjan; Jalali, Subhadra; Deshmukh, Himanshu; Kannabiran, Chitra

2011-04-01

Posterior Microphthalmos Pigmentary Retinopathy Syndrome (PMPRS). Posterior microphthalmos (PM) is a relatively infrequent type of microphthalmos where posterior segment is predominantly affected with normal anterior segment measurements. Herein, we report two siblings with posterior microphthalmos retinopathy syndrome with postulated autosomal recessive mode of inheritance. A 13-year-old child had PM and retinitis pigmentosa (RP) and his 7-year-old sister had PM, RP, and foveoschisis. The genetics of this syndrome and variable phenotype is discussed. Importance of being aware of posterior microphthalmos and its posterior segment associations is highlighted.

Disease Course of Patients with Unilateral Pigmentary Retinopathy

PubMed Central

Potsidis, Emorfily; Berson, Eliot L.

2011-01-01

Purpose. To evaluate the change in ocular function by eye in patients with unilateral pigmentary retinopathy. Methods. Longitudinal regression was used to estimate mean exponential rates of change in Goldmann visual field area (V4e white test light) and in full-field electroretinogram (ERG) amplitudes to 0.5- and 30-Hz white flashes in 15 patients with unilateral pigmentary retinopathy. Snellen visual acuity was assessed case by case. Results. Mean annual rates of change for the affected eyes were −4.9% for visual field area, −4.7% for ERG amplitude to 0.5-Hz flashes, and −4.6% for ERG amplitude to 30-Hz flashes. All three rates were faster than the corresponding age-related rates of change for the fellow normal eyes (P = 0.0006, P = 0.003, P = 0.03, respectively). An initial cone ERG implicit time to 30-Hz flashes in affected eyes ≥40 ms predicted a faster mean rate of decline of visual field area and of ERG amplitude to 0.5- and 30-Hz flashes (P < 0.0001 for all three measures). The visual acuity of affected eyes was more likely to decrease in patients presenting at >35 years of age than in patients presenting at a younger age (P = 0.0004). Conclusions. The affected eye in unilateral pigmentary retinopathy shows a progressive loss of peripheral retinal function that cannot be attributed to aging alone and that is faster in eyes with a more prolonged initial cone ERG implicit time. Patients presenting at >35 years of age are at greater risk for losing visual acuity. PMID:21989720

Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis

DOE Office of Scientific and Technical Information (OSTI.GOV)

Gedeon, A.K.; Mulley, J.C.; Kozman, H.

1994-08-01

X-linked reticulate pigmentary disorder (PDR), previously reported as X-linked cutaneous amyloidosis (MIM No. 301220), is characterized by brown pigmentation of the skin which follows the lines of Blaschko in females but appears as reticulate sheets in males. Males may suffer severe gastrointestinal disorders in infancy with failure to thrive and early death. Nowadays symptomatic treatment allows survival and other manifestations may appear such as corneal dystrophy with severe photophobia or chronic respiratory disease. Amyloid deposition in the skin may be no more than an age-dependent secondary manifestation. The PDR gene was localized by linkage analysis to Xp21-p22. The background geneticmore » map is Xpter-DXS996-22.5-DXS207-3.3-DXS999-3.3-DXS365-14.2-DXS989-4.1-3`DMD-3.5-DXS997-1.0-STR44-9.3-DYSI-2.3-DXS1068-11.0-DXS228 with distances between markers given in cM. Recombinants detected with DXS999 distally and DXS228 proximally, define the limits to the localization. Linkage was found with several markers within this interval. Peak lod scores of 3.21 at {theta} = 0.0 were obtained between PDR and DXS989 and between PDR and 5`DYSI within the dystrophin locus. 29 refs., 2 figs., 2 tabs.« less

Motives for Acquiring and Saving in Hoarding Disorder, OCD, and Community Controls

PubMed Central

Frost, Randy O.; Steketee, Gail; Tolin, David F.; Sinopoli, Nicole; Ruby, Dylan

2015-01-01

Hoarding Disorder (HD) was classified as a separate disorder in DSM-5 (APA, 2013). However, only recently has research on hoarding begun in earnest, and as of yet, very little research exists on the motivation to acquire and save the excessive volume of possessions seen in patients with this disorder. This investigation examined the frequency of four motives for acquiring and saving possessions that are often reported anecdotally by people with HD (information, emotional reasons, avoid waste, and aesthetic reasons). Comparisons in a sample of 443 participants indicated that those with HD reported higher frequencies of each of these four motives for acquiring and saving compared to OCD participants and community controls. The intention to avoid waste emerged as the most prominent motive in people with HD. Understanding waste avoidance may be key to better understanding and treating HD. PMID:25729641

Pigmentary and photonic coloration mechanisms reveal taxonomic relationships of the Cattlehearts (Lepidoptera: Papilionidae: Parides)

PubMed Central

2014-01-01

Background The colorful wing patterns of butterflies, a prime example of biodiversity, can change dramatically within closely related species. Wing pattern diversity is specifically present among papilionid butterflies. Whether a correlation between color and the evolution of these butterflies exists so far remained unsolved. Results We here investigate the Cattlehearts, Parides, a small Neotropical genus of papilionid butterflies with 36 members, the wings of which are marked by distinctly colored patches. By applying various physical techniques, we investigate the coloration toolkit of the wing scales. The wing scales contain two different, wavelength-selective absorbing pigments, causing pigmentary colorations. Scale ridges with multilayered lamellae, lumen multilayers or gyroid photonic crystals in the scale lumen create structural colors that are variously combined with these pigmentary colors. Conclusions The pigmentary and structural traits strongly correlate with the taxonomical distribution of Parides species. The experimental findings add crucial insight into the evolution of butterfly wing scales and show the importance of morphological parameter mapping for butterfly phylogenetics. PMID:25064167

Tunable Amorphous Photonic Materials with Pigmentary Colloidal Nanostructures

DOE PAGES

Han, Jinkyu; Lee, Elaine; Dudoff, Jessica K.; ...

2017-01-31

Amorphous photonic structures using pigmentary α-Fe 2O 3/SiO 2 core–shell nanoparticles are succesfully fabricated. The resulting non-iridicent brilliant colors can be manipulated by shell thickness, particle concentration, and external electrical stimuli using electrophoretic deposition process. In conclusion, fully reversible and instantaneous color changes as well as noticeable difference between transmitted and reflected colors is observed.

Precise colocalization of interacting structural and pigmentary elements generates extensive color pattern variation in Phelsuma lizards

PubMed Central

2013-01-01

Background Color traits in animals play crucial roles in thermoregulation, photoprotection, camouflage, and visual communication, and are amenable to objective quantification and modeling. However, the extensive variation in non-melanic pigments and structural colors in squamate reptiles has been largely disregarded. Here, we used an integrated approach to investigate the morphological basis and physical mechanisms generating variation in color traits in tropical day geckos of the genus Phelsuma. Results Combining histology, optics, mass spectrometry, and UV and Raman spectroscopy, we found that the extensive variation in color patterns within and among Phelsuma species is generated by complex interactions between, on the one hand, chromatophores containing yellow/red pteridine pigments and, on the other hand, iridophores producing structural color by constructive interference of light with guanine nanocrystals. More specifically, we show that 1) the hue of the vivid dorsolateral skin is modulated both by variation in geometry of structural, highly ordered narrowband reflectors, and by the presence of yellow pigments, and 2) that the reflectivity of the white belly and of dorsolateral pigmentary red marks, is increased by underlying structural disorganized broadband reflectors. Most importantly, these interactions require precise colocalization of yellow and red chromatophores with different types of iridophores, characterized by ordered and disordered nanocrystals, respectively. We validated these results through numerical simulations combining pigmentary components with a multilayer interferential optical model. Finally, we show that melanophores form dark lateral patterns but do not significantly contribute to variation in blue/green or red coloration, and that changes in the pH or redox state of pigments provide yet another source of color variation in squamates. Conclusions Precisely colocalized interacting pigmentary and structural elements generate extensive

Retinitis pigmentosa, pigmentary retinopathies, and neurologic diseases.

PubMed

Bhatti, M Tariq

2006-09-01

Retinitis pigmentosa (RP) refers to a group of inherited retinal diseases with phenotypic and genetic heterogeneity. The pathophysiologic basis of the progressive visual loss in patients with RP is not completely understood but is felt to be due to a primary retinal photoreceptor cell degenerative process mainly affecting the rods of the peripheral retina. In most cases RP is seen in isolation (nonsyndromic), but in some other cases it may be a part of a genetic, metabolic, or neurologic syndrome or disorder. Nyctalopia, or night blindness, is the most common symptom of RP. The classic fundus appearance of RP includes retinal pigment epithelial cell changes resulting in retinal hypo- or hyperpigmentation ("salt-and-pepper"), retinal granularity, and bone spicule formation. The retinal vessels are often narrowed or attenuated and there is a waxy pallor appearance of the optic nerve head. Electroretinography will demonstrate rod and cone photoreceptor cell dysfunction and is a helpful test in the diagnosis and monitoring of patients with RP. A detailed history with pedigree analysis, a complete ocular examination, and the appropriate paraclinical testing should be performed in patients complaining of visual difficulties at night or in dim light. This review discusses the clinical manifestations of RP as well as describing the various systemic diseases, with a special emphasis on neurologic diseases, associated with a pigmentary retinopathy.

Juxtacanalicular tissue in pigmentary and primary open angle glaucoma. The hydrodynamic role of pigment and other constituents.

PubMed

Murphy, C G; Johnson, M; Alvarado, J A

1992-12-01

We tested the hypothesis that obstruction of the juxtacanalicular tissues, by melanin granules in pigmentary glaucoma and by other impermeable material in primary open angle glaucoma, leads to the development of a chronic glaucomatous condition. The distribution and concentration of melanin and other impermeable materials in the juxtacanalicular tissues and elsewhere in the trabecular meshwork was determined in 13 specimens. Six specimens were from patients with pigmentary glaucoma, two from patients with pigment dispersion syndrome, and three from patients with primary open angle glaucoma, as well as two from normal subjects. The effect of these materials on flow resistance was estimated using two hydrodynamic models. In model A, the electron-lucent spaces of the juxtacanalicular tissue were assumed to be open spaces, while in model B, these spaces and spaces filled with ground substance were assumed to be gel filled. In pigmentary glaucoma, 3.5% of the pigment was found in the juxtacanalicular tissue, while 96.5% was found in the corneoscleral and uveoscleral tissues. Permeabilities calculated according to model A were much higher than those expected from estimates of outflow facility in all groups, in agreement with the previous report of Ethier et al. The gel-filled spaces available for fluid flow, as determined by model B, showed no statistically demonstrable differences (pigmentary glaucoma, 32.9%; primary open angle glaucoma, 36.6%; pigment dispersion syndrome, 43.4%; normal, 44.1%). Furthermore, the amount of pigment present in the juxtacanalicular tissue was determined to have a negligible influence on permeability. Thus, the development of the chronic glaucomatous condition cannot be directly attributed to pigment accumulation in the juxtacanalicular tissue in pigmentary glaucoma.

Estimating the attributable fraction for melanoma: a meta-analysis of pigmentary characteristics and freckling.

PubMed

Olsen, Catherine M; Carroll, Heidi J; Whiteman, David C

2010-11-15

Epidemiologic research has demonstrated convincingly that certain pigmentary characteristics are associated with increased relative risks of melanoma; however there has been no comprehensive review to rank these characteristics in order of their importance on a population level. We conducted a systematic review of the literature and meta-analysis to quantify the contribution of pigmentary characteristics to melanoma, estimated by the population-attributable fraction (PAF). Eligible studies were those that permitted quantitative assessment of the association between histologically confirmed melanoma and hair colour, eye colour, skin phototype and presence of freckling; we identified 66 such studies using citation databases, followed by manual review of retrieved references. We calculated summary relative risks using weighted averages of the log RR, taking into account random effects, and used these to estimate the PAF. The pooled RRs for pigmentary characteristics were: 2.64 for red/red-blond, 2.0 for blond and 1.46 for light brown hair colour (vs. dark); 1.57 for blue/blue-grey and 1.51 for green/grey/hazel eye colour (vs. dark); 2.27, 1.99 and 1.35 for skin phototypes I, II and III respectively (vs. IV); and 1.99 for presence of freckling. The highest PAFs were observed for skin phototypes 1/II (0.27), presence of freckling (0.23), and blond hair colour (0.23). For eye colour, the PAF for blue/blue-grey eye colour was higher than for green/grey/hazel eye colour (0.18 vs. 0.13). The PAF of melanoma associated with red hair colour was 0.10. These estimates of melanoma burden attributable to pigmentary characteristics provide a basis for designing prevention strategies for melanoma.

Acquired pendular nystagmus

PubMed Central

Kang, Sarah; Shaikh, Aasef G.

2017-01-01

Acquired pendular nystagmus is comprised of quasi-sinusoidal oscillations of the eyes significantly affecting gaze holding and clarity of vision. The most common causes of acquired pendular nystagmus include demyelinating disorders such as multiple sclerosis and the syndrome of ocular palatal tremor. However, several other deficits, such as pharmacological intoxication, metabolic and genetic disorders, and granulomatous disorders can lead to syndromes mimicking acquired pendular nystagmus. Study of the kinematic features of acquired pendular nystagmus has suggested a putative pathophysiology of an otherwise mysterious neurological disorder. Here we review clinical features of neurological deficits that co-occur with acquired pendular nystagmus. Subsequent discussion of the pathophysiology of individual forms of pendular nystagmus speculates on mechanisms of the underlying disease while providing insights into pharmacotherapy of nystagmus. PMID:28320194

Acquired pendular nystagmus.

PubMed

Kang, Sarah; Shaikh, Aasef G

2017-04-15

Acquired pendular nystagmus is comprised of quasi-sinusoidal oscillations of the eyes significantly affecting gaze holding and clarity of vision. The most common causes of acquired pendular nystagmus include demyelinating disorders such as multiple sclerosis and the syndrome of ocular palatal tremor. However, several other deficits, such as pharmacological intoxication, metabolic and genetic disorders, and granulomatous disorders can lead to syndromes mimicking acquired pendular nystagmus. Study of the kinematic features of acquired pendular nystagmus has suggested a putative pathophysiology of an otherwise mysterious neurological disorder. Here we review clinical features of neurological deficits that co-occur with acquired pendular nystagmus. Subsequent discussion of the pathophysiology of individual forms of pendular nystagmus speculates on mechanisms of the underlying disease while providing insights into pharmacotherapy of nystagmus. Copyright © 2017 Elsevier B.V. All rights reserved.

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1.

PubMed

Benomar, A; Krols, L; Stevanin, G; Cancel, G; LeGuern, E; David, G; Ouhabi, H; Martin, J J; Dürr, A; Zaim, A

1995-05-01

Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy (ADCA type II) is a rare neurodegenerative disorder with marked anticipation. We have mapped the ADCA type II locus to chromosome 3 by linkage analysis in a genome-wide search and found no evidence for genetic heterogeneity among four families of different geographic origins. Haplotype reconstruction initially restricted the locus to the 33 cM interval flanked by D3S1300 and D3S1276 located at 3p12-p21.1. Combined multipoint analysis, using the Zmax-1 method, further reduced the candidate interval to an 8 cM region around D3S1285. Our results show that ADCA type II is a genetically homogenous disorder, independent of the heterogeneous group of type I cerebellar ataxias.

Telerehabilitation, virtual therapists, and acquired neurologic speech and language disorders.

PubMed

Cherney, Leora R; van Vuuren, Sarel

2012-08-01

Telerehabilitation (telerehab) offers cost-effective services that potentially can improve access to care for those with acquired neurologic communication disorders. However, regulatory issues including licensure, reimbursement, and threats to privacy and confidentiality hinder the routine implementation of telerehab services into the clinical setting. Despite these barriers, rapid technological advances and a growing body of research regarding the use of telerehab applications support its use. This article reviews the evidence related to acquired neurologic speech and language disorders in adults, focusing on studies that have been published since 2000. Research studies have used telerehab systems to assess and treat disorders including dysarthria, apraxia of speech, aphasia, and mild Alzheimer disease. They show that telerehab is a valid and reliable vehicle for delivering speech and language services. The studies represent a progression of technological advances in computing, Internet, and mobile technologies. They range on a continuum from working synchronously (in real-time) with a speech-language pathologist to working asynchronously (offline) with a stand-in virtual therapist. One such system that uses a virtual therapist for the treatment of aphasia, the Web-ORLA™ (Rehabilitation Institute of Chicago, Chicago, IL) system, is described in detail. Future directions for the advancement of telerehab for clinical practice are discussed. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

5-HT1A/1B Receptors as Targets for Optimizing Pigmentary Responses in C57BL/6 Mouse Skin to Stress

PubMed Central

Wu, Hua-Li; Pang, Si-Lin; Liu, Qiong-Zhen; Wang, Qian; Cai, Min-Xuan; Shang, Jing

2014-01-01

Stress has been reported to induce alterations of skin pigmentary response. Acute stress is associated with increased turnover of serotonin (5-hydroxytryptamine; 5-HT) whereas chronic stress causes a decrease. 5-HT receptors have been detected in pigment cells, indicating their role in skin pigmentation. To ascertain the precise role of 5-HT in stress-induced pigmentary responses, C57BL/6 mice were subjected to chronic restraint stress and chronic unpredictable mild stress (CRS and CUMS, two models of chronic stress) for 21 days, finally resulting in abnormal pigmentary responses. Subsequently, stressed mice were characterized by the absence of a black pigment in dorsal coat. The down-regulation of tyrosinase (TYR) and tyrosinase-related proteins (TRP1 and TRP2) expression in stressed skin was accompanied by reduced levels of 5-HT and decreased expression of 5-HT receptor (5-HTR) system. In both murine B16F10 melanoma cells and normal human melanocytes (NHMCs), 5-HT had a stimulatory effect on melanin production, dendricity and migration. When treated with 5-HT in cultured hair follicles (HFs), the increased expression of melanogenesis-related genes and the activation of 5-HT1A, 1B and 7 receptors also occurred. The serum obtained from stressed mice showed significantly decreased tyrosinase activity in NHMCs compared to that from nonstressed mice. The decrease in tyrosinase activity was further augmented in the presence of 5-HTR1A, 1B and 7 antagonists, WAY100635, SB216641 and SB269970. In vivo, stressed mice received 5-HT precursor 5-hydroxy-l-tryptophan (5-HTP), a member of the class of selective serotonin reuptake inhibitors (fluoxetine; FX) and 5-HTR1A/1B agonists (8-OH-DPAT/CP94253), finally contributing to the normalization of pigmentary responses. Taken together, these data strongly suggest that the serotoninergic system plays an important role in the regulation of stress-induced depigmentation, which can be mediated by 5-HT1A/1B receptors. 5-HT and 5-HTR1A

Nonsuicidal self-injury and disordered eating: Differences in acquired capability and suicide attempt severity.

PubMed

Brausch, Amy M; Perkins, Natalie M

2018-05-21

Nonsuicidal self-injury (NSSI) and eating disorders are both strongly related to suicide behaviors, and both can be conceptualized as painful and provocative events that associate with acquired capability for suicide. Individuals who self-injure report greater acquired capability than those who do not engage in these behaviors, but results are mixed in eating disorder samples. Given that NSSI and disordered eating (DE) commonly co-occur, it is important to examine how acquired capability for suicide and suicide attempt severity may differ between individuals who engage in either, both, or neither of these behaviors. It was expected that individuals with both NSSI and DE would report the greatest acquired capability, assessed by fearlessness about death and fear about suicide, and suicide attempt severity, compared to NSSI only, DE only, and controls. In a sample of 1179 undergraduates, results indicated no differences on fearlessness about death, but the NSSI + DE group reported the lowest scores on fear of suicide and greatest suicide attempt severity compared to the other groups. Differences between fearlessness about death and fear about suicide are discussed, as well as the possible additive effect of engaging in both direct (NSSI) and indirect (DE) self-harm on fear about suicide and suicide risk. Copyright © 2018 Elsevier B.V. All rights reserved.

Unilateral pigmentary degeneration of the retina associated with heterochromia iridis.

PubMed

Grisanti, S; Diestelhorst, M; Lebek, J; Walter, P; Heimann, K

1998-12-01

For the past 5 years, a 56-year-old patient has been displaying monocular progressive pigmentary changes in the left eye. Heterochromy of the left eye has been known since childhood. The other eye is clinically and functionally normal. The patient was adopted and he has no children. Therefore, we have no family history. The patient was examined clinically and by means of electroretinography, electrooculography, perimetry, computer tomography, pulsatile ocular blood flow (POBF) measurement, serology and Doppler sonography. Electrophysiology displayed a considerable reduction of scotopic and photopic ERGs, a reduced dark-through, and a reduced light-rise in the left eye, whereas the fellow eye was normal. The visual field was limited to 5 deg around the fixation point, and a peripheral crescent-shaped arch encircled the temporal-inferior quadrant concomitant to the pigmentary changes. By computer tomography and Doppler sonography a vascular affection was excluded. The left eye displayed lower POBF values. All serological tests were found negative. The clinical picture and negative exclusion criteria indicate a unilateral retinitis pigmentosa. However, with regard to the literature an unequivocal diagnosis can only be made upon hereditary evidence.

Pigmentary glaucoma accompanied by Usher syndrome.

PubMed

Koucheki, Behrooz; Jalali, Kamran Hodjat

2012-08-01

To report a case of pigmentary glaucoma (PG) accompanied by Usher syndrome. Case report. The results were presented after standard ocular examination, visual field test, anterior segment and fundus photography, electroretinography, and otolaryngology consultation were conducted. Typical retinitis pigmentosa, flat electroretinography, congenital sensorineural hearing loss, high intraocular pressure, Krukenberg spindle, iris concavity, radial iris transillumination defect, severe pigment deposition on the trabecular meshwork, and glaucomatous optic nerve damage were indicative of PG accompanied by Usher syndrome. In some rare cases, PG may coexist with Usher syndrome. Common findings of Usher syndrome, including night blindness, impaired vision, visual field defects, and retinal changes may distract the clinician from considering the diagnosis of glaucoma. Such association should be borne in mind to make a timely diagnosis and treatment possible.

Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma--a new syndrome?

PubMed Central

Ghose, S; Sachdev, M S; Kumar, H

1985-01-01

An unusual case of bilateral nanophthalmos with pigmentary retinal dystrophy and angle closure glaucoma is presented. This is probably the first published report of the established association of all these three entities in the same patient. The aetiological possibilities and clinical significance are discussed. Images PMID:4016062

Comparison between visual field defect in pigmentary glaucoma and primary open-angle glaucoma.

PubMed

Nilforushan, Naveed; Yadgari, Maryam; Jazayeri, Anisalsadat

2016-10-01

To compare visual field defect patterns between pigmentary glaucoma and primary open-angle glaucoma. Retrospective, comparative study. Patients with diagnosis of primary open-angle glaucoma (POAG) and pigmentary glaucoma (PG) in mild to moderate stages were enrolled in this study. Each of the 52 point locations in total and pattern deviation plot (excluding 2 points adjacent to blind spot) of 24-2 Humphrey visual field as well as six predetermined sectors were compared using SPSS software version 20. Comparisons between 2 groups were performed with the Student t test for continuous variables and the Chi-square test for categorical variables. Thirty-eight eyes of 24 patients with a mean age of 66.26 ± 11 years (range 48-81 years) in the POAG group and 36 eyes of 22 patients with a mean age of 50.52 ± 11 years (range 36-69 years) in the PG group were studied. (P = 0.00). More deviation was detected in points 1, 3, 4, and 32 in total deviation (P = 0.03, P = 0.015, P = 0.018, P = 0.023) and in points 3, 4, and 32 in pattern deviation (P = 0.015, P = 0.049, P = 0.030) in the POAG group, which are the temporal parts of the field. It seems that the temporal area of the visual field in primary open-angle glaucoma is more susceptible to damage in comparison with pigmentary glaucoma.

Presumed atypical HDR syndrome associated with Band Keratopathy and pigmentary retinopathy.

PubMed

Kim, Cinoo; Cheong, Hae Il; Kim, Jeong Hun; Yu, Young Suk; Kwon, Ji Won

2011-01-01

This report describes presumed atypical hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome associated with unexpected ocular findings. The patient had exotropia, bilateral band keratopathy, and pigmentary retinopathy, including attenuated retinal vessels and atrophy of the retinal pigment epithelium. Even though the calcific plaques were successfully removed, visual acuity in both eyes gradually decreased and electroretinography was extinguished. Copyright 2009, SLACK Incorporated.

Treatment of hyperpigmentation.

PubMed

Rossi, Anthony M; Perez, Maritza I

2011-05-01

Disorders of hyperpigmentation encompass a plethora of pigmentary problems that can range from inherited to acquired. This article focuses on two prevalent disorders of hyperpigmentation and their treatment: melasma and postinflammatory hyperpigmentation. Each represents an acquired disorder of dyspigmentation with multifactorial etiology, which preferentially affects darker phototypes. Treatment can require a combination of medical, surgical, and laser modalities, as well as patience by both physician and patient. Treatment is limited mainly by the skin phototype of the patient, as darker skin types are more susceptible to adverse effects of treatment. Copyright © 2011 Elsevier Inc. All rights reserved.

Pigment deposition on the central aspect of the posterior lens capsule in pigmentary dispersion.

PubMed

Nagarajaiah, Shubha; Shun-Shin, Georges Adrien

2011-01-01

We describe a case of an increasing pigmentary plaque on the posterior surface of the lens during follow-up of a case of pigment dispersion syndrome and suggest that this is a new sign of pigment dispersion.

Acquired platelet function defect

MedlinePlus

... Some cases cannot be prevented. Alternative Names Acquired qualitative platelet disorders; Acquired disorders of platelet function Images ... Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare ...

Self-reported pigmentary phenotypes and race are significant but incomplete predictors of Fitzpatrick skin phototype in an ethnically diverse population.

PubMed

He, Steven Y; McCulloch, Charles E; Boscardin, W John; Chren, Mary-Margaret; Linos, Eleni; Arron, Sarah T

2014-10-01

Fitzpatrick skin phototype (FSPT) is the most common method used to assess sunburn risk and is an independent predictor of skin cancer risk. Because of a conventional assumption that FSPT is predictable based on pigmentary phenotypes, physicians frequently estimate FSPT based on patient appearance. We sought to determine the degree to which self-reported race and pigmentary phenotypes are predictive of FSPT in a large, ethnically diverse population. A cross-sectional survey collected responses from 3386 individuals regarding self-reported FSPT, pigmentary phenotypes, race, age, and sex. Univariate and multivariate logistic regression analyses were performed to determine variables that significantly predict FSPT. Race, sex, skin color, eye color, and hair color are significant but weak independent predictors of FSPT (P<.0001). A multivariate model constructed using all independent predictors of FSPT only accurately predicted FSPT to within 1 point on the Fitzpatrick scale with 92% accuracy (weighted kappa statistic 0.53). Our study enriched for responses from ethnic minorities and does not fully represent the demographics of the US population. Patient self-reported race and pigmentary phenotypes are inaccurate predictors of sun sensitivity as defined by FSPT. There are limitations to using patient-reported race and appearance in predicting individual sunburn risk. Copyright © 2014 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

Negative electroretinograms in pericentral pigmentary retinal degeneration.

PubMed

Hotta, Kazuki; Kondo, Mineo; Nakamura, Makoto; Hotta, Junko; Terasaki, Hiroko; Miyake, Yozo; Hida, Tetsuo

2006-01-01

The clinical presentation and electrophysiological findings are described of three consecutive cases with pericentral pigmentary retinal degeneration. The responses to bright flashes after dark adaptation showed negative waveform shape in all cases. Rod responses were strongly reduced compared with cone responses. Cone electroretinograms elicited by long-duration stimuli showed greater loss of the on-response than the off-response. The ratio of the on-response amplitude to off-response amplitude of these patients (0.52 +/- 0.12; mean +/- SD, n = 6) was significantly smaller than that of normal subject (0.83 +/- 0.21; mean +/- SD, n = 8) (Mann-Whitney U-test, P < 0.01). The electrophysiological findings of these cases suggest a greater defect of inner retinal function, especially in transmission between photoreceptors and depolarizing bipolar cells.

Community-Acquired Pneumonia Hospitalization among Children with Neurologic Disorders.

PubMed

Millman, Alexander J; Finelli, Lyn; Bramley, Anna M; Peacock, Georgina; Williams, Derek J; Arnold, Sandra R; Grijalva, Carlos G; Anderson, Evan J; McCullers, Jonathan A; Ampofo, Krow; Pavia, Andrew T; Edwards, Kathryn M; Jain, Seema

2016-06-01

To describe and compare the clinical characteristics, outcomes, and etiology of pneumonia among children hospitalized with community-acquired pneumonia (CAP) with neurologic disorders, non-neurologic underlying conditions, and no underlying conditions. Children <18 years old hospitalized with clinical and radiographic CAP were enrolled at 3 US children's hospitals. Neurologic disorders included cerebral palsy, developmental delay, Down syndrome, epilepsy, non-Down syndrome chromosomal abnormalities, and spinal cord abnormalities. We compared the epidemiology, etiology, and clinical outcomes of CAP in children with neurologic disorders with those with non-neurologic underlying conditions, and those with no underlying conditions using bivariate, age-stratified, and multivariate logistic regression analyses. From January 2010-June 2012, 2358 children with radiographically confirmed CAP were enrolled; 280 (11.9%) had a neurologic disorder (52.1% of these individuals also had non-neurologic underlying conditions), 934 (39.6%) had non-neurologic underlying conditions only, and 1144 (48.5%) had no underlying conditions. Children with neurologic disorders were older and more likely to require intensive care unit (ICU) admission than children with non-neurologic underlying conditions and children with no underlying conditions; similar proportions were mechanically ventilated. In age-stratified analysis, children with neurologic disorders were less likely to have a pathogen detected than children with non-neurologic underlying conditions. In multivariate analysis, having a neurologic disorder was associated with ICU admission for children ≥2 years of age. Children with neurologic disorders hospitalized with CAP were less likely to have a pathogen detected and more likely to be admitted to the ICU than children without neurologic disorders. Published by Elsevier Inc.

48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis.

PubMed

Zantour, Baha; Sfar, Mohamed Habib; Younes, Samia; Alaya, Wafa; Kamoun, Mahdi; Mkaouar, Emna; Jerbi, Saida

2010-01-01

A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, metabolic syndrome, unilateral renal aplasia, and hypergonadotropic hypogonadism, and ruled out mitochondrial cytopathy and leucodystrophy. Karyotype study showed a 48XXYY chromosomal type. Renal aplasia and pigmentary retinitis have not been described in 48XXYY patients. They may be related to the chromosomal sex aneuploidy, or caused by other genetic aberrations in light of the high consanguinity rate in the patient's family.

48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis

PubMed Central

Zantour, Baha; Sfar, Mohamed Habib; Younes, Samia; Alaya, Wafa; Kamoun, Mahdi; Mkaouar, Emna; Jerbi, Saida

2010-01-01

A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, metabolic syndrome, unilateral renal aplasia, and hypergonadotropic hypogonadism, and ruled out mitochondrial cytopathy and leucodystrophy. Karyotype study showed a 48XXYY chromosomal type. Renal aplasia and pigmentary retinitis have not been described in 48XXYY patients. They may be related to the chromosomal sex aneuploidy, or caused by other genetic aberrations in light of the high consanguinity rate in the patient's family. PMID:20827436

Pigmentary Markers in Danes – Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome

PubMed Central

Johansen, Peter; Andersen, Jeppe Dyrberg; Madsen, Linnea Nørgård; Ullum, Henrik; Glud, Martin; Børsting, Claus; Gniadecki, Robert; Morling, Niels

2016-01-01

To investigate whether pigmentation genes involved in the melanogenic pathway (melanogenesis) contributed to melanoma predisposition, we compared pigmentary genetics with quantitative skin pigmentation measurements, the number of atypical nevi, the total nevus count, and the familial atypical multiple mole and melanoma (FAMMM) syndrome. We typed 32 pigmentary SNP markers and sequenced MC1R in 246 healthy individuals and 116 individuals attending periodic control for malignant melanoma development, 50 of which were diagnosed with FAMMM. It was observed that individuals with any two grouped MC1R variants (missense, NM_002386:c. 456C > A (p.TYR152*), or NM_002386:c.83_84insA (p.Asn29Glnfs*14) had significantly (p<0.001) lighter skin pigmentation of the upper-inner arm than those with none or one MC1R variant. We did not observe any significant association of the MC1R variants with constitutive pigmentation measured on the buttock area. We hypothesize that the effect of MC1R variants on arm pigmentation is primarily reflecting the inability to tan when subjected to UVR. A gender specific effect on skin pigmentation was also observed, and it was found that the skin pigmentation of females on average were darker than that of males (p<0.01). We conclude that MC1R variants are associated with quantitative skin colour in a lightly pigmented Danish population. We did not observe any association between any pigmentary marker and the FAMMM syndrome. We suggest that the genetics of FAMMM is not related to the genetics of the pigmentary pathway. PMID:26938746

Stereotypic movement disorder after acquired brain injury.

PubMed

McGrath, Cynthia M; Kennedy, Richard E; Hoye, Wayne; Yablon, Stuart A

2002-05-01

Stereotypic movement disorder (SMD) consists of repetitive, non-functional motor behaviour that interferes with daily living or causes injury to the person. It is most often described in patients with mental retardation. However, recent evidence indicates that this condition is common among otherwise normal individuals. This case study describes a patient with new-onset SMD occurring after subdural haematoma and brain injury. SMD has rarely been reported after acquired brain injury, and none have documented successful treatment. The current psychiatric literature regarding neurochemistry, neuroanatomy, and treatment of SMD are reviewed with particular application to one patient. Treatment options include serotonin re-uptake inhibitors, opioid antagonists and dopamine antagonists. SMD has been under-appreciated in intellectually normal individuals, and may also be unrecognized after brain injury. Further investigation is needed in this area, which may benefit other individuals with SMD as well.

Effect of epithalon on age-specific changes in the retina in rats with hereditary pigmentary dystrophy.

PubMed

Khavinson, V Kh; Razumovskii, M I; Trofimova, S V; Grigor'yan, R A; Chaban, T V; Oleinik, T L; Razumovskaya, A M

2002-01-01

The effect of peptide bioregulator Epithalon on the course of hereditary pigmentary retinal degeneration was studied in Campbell rats. Administration of epithalon starting from birth protected morphological structure, increased its bioelectrical activity, and improved its function.

The genetics of pigment dispersion syndrome and pigmentary glaucoma.

PubMed

Lascaratos, Gerassimos; Shah, Ameet; Garway-Heath, David F

2013-01-01

We review the inheritance patterns and recent genetic advances in the study of pigment dispersion syndrome (PDS) and pigmentary glaucoma (PG). Both conditions may result from combinations of mutations in more than one gene or from common variants in many genes, each contributing small effects. We discuss the currently known genetic loci that may be related with PDS/PG in humans, the role of animal models in expanding our understanding of the genetic basis of PDS, the genetic factors underlying the risk for conversion from PDS to PG and the relationship between genetic and environmental--as well as anatomical--risk factors. Copyright © 2013 Elsevier Inc. All rights reserved.

The Relationship between Body Dysmorphic Disorder Behaviors and the Acquired Capability for Suicide

ERIC Educational Resources Information Center

Witte, Tracy K.; Didie, Elizabeth R.; Menard, William; Phillips, Katharine A.

2012-01-01

In a sample of 200 individuals diagnosed with body dysmorphic disorder (BDD), we utilized the interpersonal-psychological theory for suicide as a framework to examine BDD behaviors that might be associated with suicide risk, insofar as they might increase the acquired capability for suicide. We predicted that physically painful BDD behaviors…

Trabeculotomy ab interno with Trabectome as surgical management for systemic fluoroquinolone-induced pigmentary glaucoma

PubMed Central

Den Beste, Kyle A.; Okeke, Constance

2017-01-01

Abstract Rationale: Bilateral acute iris transillumination (BAIT) is a poorly-understood ocular syndrome in which patients present with acute iridocyclitis and pigmentary dispersion with or without ocular hypertension. The etiology of the disease remains unknown, though recent reports suggest an antecedent upper respiratory tract infection or systemic antibiotic administration may trigger the clinical syndrome. Patient concerns: A 55-year-old female was referred for a second opinion regarding her bilateral ocular pain, photophobia, and ocular hypertension. Her medical history was notable for a diagnosis of pneumonia managed with oral moxifloxacin several weeks prior to her initial presentation. Diagnoses: Visual acuity was 20/40 with an intraocular pressure (IOP) of 30 mmHg in the affected eye despite maximal tolerated medical therapy. The patient had severe bilateral iris transillumination defects with posterior synechiae formation and 3+ pigment with rare cell in the anterior chamber. This constellation of findings was consistent with a diagnosis of BAIT. Interventions: A peripheral iridotomy was placed, which mildly relieved the iris bowing, but did not affect the IOP or inflammatory reaction. The patient then underwent cataract extraction with posterior synechiolysis and ab interno trabeculotomy of the left eye with the Trabectome. Outcomes: The patient's IOP on the first post-operative day was 13 mmHg, and anterior chamber inflammation was noted to be significantly reduced at post-operative week 2. The patient was recently seen at a 1-year post-operative visit and her IOP remains in the low teens on a low-dose combination topical agent. Lessons: Ophthalmologists should remain aware of the association between systemic fluoroquinolones and acute pigmentary dispersion that can progress to glaucoma. The Trabectome remains a viable option for management of pigmentary and uveitic glaucoma resistant to medical treatment. PMID:29068979

Energy-based device treatment of melasma: An update and review of the literature.

PubMed

Dunbar, Scott; Posnick, David; Bloom, Bradley; Elias, Charles; Zito, Patrick; Goldberg, David J

2017-02-01

Melasma is an acquired pigmentary disorder commonly seen in sun-exposed areas. Predominantly affecting women of childbearing age, melasma can be difficult to treat for many patients. A variety of options currently exist; however, definitive treatment remains elusive. This article provides a review of the current literature and examines in detail the various energy-based devices used to treat melasma.

An Overlap Syndrome of Pigment Dispersion and Pigmentary Glaucoma accompanied by Marfan Syndrome: Case Report with Literature Review.

PubMed

Chakravarti, Tutul; Spaeth, George

2013-01-01

'Overlap syndrome' describes the situation in which two or more 'independent' conditions are present, either one of which could cause a particular finding. This current presentation reports a case with bilateral pigment dispersion syndrome (PDS), advanced pigmentary glaucoma (PG), and the Marfan syndrome, with bilateral subluxation of the lenses, and large short-term and long-term fluctuations of intraocular pressure. It is interesting to consider whether the associated advanced glaucomatous nerve damage could be a manifestation of just the PDS, just the Marfan syndrome, or rather a combination of these two overlapping independent conditions. How to cite this article: Chakravarti T, George S. An Overlap Syndrome of Pigment Dispersion and Pigmentary Glaucoma accompanied by Marfan Syndrome: Case Report with Literature Review. J Current Glau Prac 2013;7(2):91-95.

Pigment dispersion syndrome and pigmentary glaucoma: a review and update.

PubMed

Scuderi, Gianluca; Contestabile, Maria Teresa; Scuderi, Luca; Librando, Aloisa; Fenicia, Vito; Rahimi, Siavash

2018-05-02

Potential factors influencing stereopsis were investigated in patients with both refractive accommodative esotropia (RAE) and amblyopia. Pigment dispersion syndrome (PDS) is a condition where anomalous iridozonular contact leads to pigment dispersion throughout the anterior segment and the released pigment is abnormally deposited on various ocular structures. The clinical presentation of PDS is defined by the presence of pigmented cells on the corneal endothelium, an increase of pigmentation of the trabecular meshwork, and mid-periphery transillumination defects of the iris. This syndrome, more common in myopes, is usually bilateral and can be associated with ocular hypertension or glaucoma. Secondary open-angle pigmentary glaucoma (PG) can develop due to reduction of the outflow of aqueous humour and consequent increase in intraocular pressure leading to glaucomatous optic neuropathy. Diagnosis of PG is commonly between 40 and 50 years of age, occurring more frequently in men. The advent of ultrasound biomicroscopy and anterior segment optical coherence tomography has contributed to enhancing our knowledge on the condition. Typical alterations of the anterior segment are the posterior insertion of the iris and iris concavity. Treatment of PG should be initiated early to hinder disease progression, glaucomatous damage, and vision loss. Management is based on medical therapy, laser iridotomy, selective laser trabeculoplasty, and filtration procedures. The differential diagnosis of PDS with other disorders can be challenging and awareness of the condition together with meticulous ophthalmologic examination allows early diagnosis followed by appropriate management strategies. The present review is a comprehensive report on the clinical characteristics, pathogenesis, current management, and status quo of PDS and PG.

Gastrostomy Tube Feeding in Children With Developmental or Acquired Disorders: A Longitudinal Comparison on Healthcare Provision and Eating Outcomes 4 Years After Gastrostomy.

PubMed

Backman, Ellen; Karlsson, Ann-Kristin; Sjögreen, Lotta

2018-03-30

Studies on long-term feeding and eating outcomes in children requiring gastrostomy tube feeding (GT) are scarce. The aim of this study was to describe children with developmental or acquired disorders receiving GT and to compare longitudinal eating and feeding outcomes. A secondary aim was to explore healthcare provision related to eating and feeding. This retrospective cohort study reviewed medical records of children in 1 administrative region of Sweden with GT placement between 2005 and 2012. Patient demographics, primary diagnoses, age at GT placement, and professional healthcare contacts prior to and after GT placement were recorded and compared. Feeding and eating outcomes were assessed 4 years after GT placement. The medical records of 51 children, 28 boys and 23 girls, were analyzed and grouped according to "acquired" (n = 13) or "developmental" (n = 38) primary diagnoses. At 4 years after GT placement, 67% were still using GT. Only 6 of 37 (16%) children with developmental disorders transferred to eating all orally, as opposed to 10 of 11 (91%) children with acquired disorders. Children with developmental disorders were younger at the time of GT placement and displayed a longer duration of GT activity when compared with children with acquired disorders. This study demonstrates a clear difference between children with developmental or acquired disorders in duration of GT activity and age at GT placement. The study further shows that healthcare provided to children with GT is in some cases multidisciplinary, but primarily focuses on feeding rather than eating. © 2018 American Society for Parenteral and Enteral Nutrition.

Pigmentary characteristics and moles in relation to melanoma risk.

PubMed

Titus-Ernstoff, Linda; Perry, Ann E; Spencer, Steven K; Gibson, Jennifer J; Cole, Bernard F; Ernstoff, Marc S

2005-08-10

Although benign and atypical moles are considered key melanoma risk factors, previous studies of their influence were small and/or institution-based. We conducted a population-based case-control study in the state of New Hampshire. Individuals of ages 20-69 with an incident diagnosis of first primary cutaneous melanoma were ascertained through the New Hampshire State Cancer Registry. Controls were identified through New Hampshire driver's license lists and frequency-matched by age and gender to cases. We interviewed 423 eligible cases and 678 eligible controls. Host characteristics, including mole counts, were evaluated using logistic regression analyses. Our results showed that pigmentary factors, including eye color (OR = 1.57 for blue eyes compared to brown), hair color (OR = 1.85 for blonde/red hair color compared to brown/black), freckles before age 15 (OR = 2.39 for freckles present compared to absent) and sun sensitivity (OR = 2.25 for peeling sunburn followed by no tan or a light tan and 2.42 for sunburn followed by tan compared to tanning immediately), were related to melanoma risk; these associations held after adjustment for sun-related factors and for moles. In analyses confined to skin examination participants, the covariate-adjusted effects of benign and atypical moles were moderately strong. Compared to 0-4 benign moles, risk increased steadily for 5-14 moles (OR = 1.71), 15-24 moles (OR = 3.55) and >or= 25 moles (OR = 4.33). Risk also increased with the number of atypical moles; compared to none, the ORs for having 1, 2-3, or >or= 4 atypical moles were 2.08, 1.84 and 3.80, respectively. Although risk was highest for those with multiple benign and atypical moles, the interaction was not of statistical significance. Our findings, arising from the first population- and incidence-based study to evaluate atypical moles in relation to melanoma risk, confirm the importance of host susceptibility, represented by pigmentary factors and the tendency to

Acquiring a Pet Dog Significantly Reduces Stress of Primary Carers for Children with Autism Spectrum Disorder: A Prospective Case Control Study

ERIC Educational Resources Information Center

Wright, H. F.; Hall, S.; Hames, A.; Hardiman, J.; Mills, R.; Mills, D. S.

2015-01-01

This study describes the impact of pet dogs on stress of primary carers of children with Autism Spectrum Disorder (ASD). Stress levels of 38 primary carers acquiring a dog and 24 controls not acquiring a dog were sampled at: Pre-intervention (17 weeks before acquiring a dog), post-intervention (3-10 weeks after acquisition) and follow-up…

Acquired auditory neuropathy spectrum disorder after an attack of chikungunya: case study.

PubMed

Prabhu, Prashanth

2016-01-01

Auditory neuropathy spectrum disorder (ANSD) is a retrocochlear disorder in which the cochlear functioning is normal but the transmission in the auditory neural pathway is affected. The present study reports of a 14-year-old teenager with acquired ANSD after an attack of chikungunya. He reported symptoms of difficulty in understanding speech, tinnitus and vertigo when exposed to loud sounds. The audiological characteristics suggested auditory neuropathy spectrum disorder with raising audiogram configuration. The results of tinnitus evaluation showed low-pitched tinnitus and it was persistent causing significant handicap to him based on self report tinnitus handicap questionnaire results. The results of depression, anxiety and stress scale also suggested symptoms of mild depression and anxiety. Chikungunya virus is suspected to be neurotropic in nature which can damage auditory nerve cells and may have caused ANSD. The result also shows presence of tullio's phenomenon and absence of cervical vestibular evoked myogenic potentials suggesting damage to the vestibular neuronal system. The possible pathophysiology of chikungunya virus causing ANSD and vestibular symptoms needs to be explored further in future studies.

Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians

PubMed Central

Nan, Hongmei; Kraft, Peter; Hunter, David J.; Han, Jiali

2009-01-01

Human pigmentation is a polygenic quantitative trait with high heritability. Although a large number of single nucleotide polymorphisms (SNPs) have been identified in pigmentation genes, very few SNPs have been examined in relation to human pigmentary phenotypes and skin cancer risk. We evaluated the associations between fifteen SNPs in eight candidate pigmentation genes (TYR, TYRP1, OCA2, SLC24A5, SLC45A2, POMC, ASIP, and ATRN) and both pigmentary phenotypes (hair color, skin color, and tanning ability) and skin cancer risk in a nested case-control study of Caucasians within the Nurses’ Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 870 common controls. We found that the TYR Arg402Gln variant was significantly associated with skin color (p-value =7.7×10−4) and tanning ability (p-value =7.3×10−4); the SLC45A2 Phe374Leu variant was significantly associated with hair color (black to blonde) (p-value =2.4×10−7), skin color (p-value =1.1×10−7), and tanning ability (p-value =2.5×10−4). These associations remained significant after controlling for MC1R variants. No significant associations were found between these polymorphisms and the risk of skin cancer. We observed that the TYRP1 rs1408799 and SLC45A2 -1721 C>G were associated with melanoma risk (OR, 0.77; 95% CI, 0.60–0.98 and OR, 0.75; 95% CI, 0.60–0.95, respectively). The TYR Ser192Tyr was associated with SCC risk (OR, 1.23; 95% CI, 1.00–1.50). The TYR haplotype carrying only the Arg402Gln variant allele was significantly associated with SCC risk (OR, 1.35; 95% CI, 1.04–1.74). The OCA2 Arg419Gln and ASIP g.8818 A>G were associated with BCC risk (OR, 1.50; 95% CI, 1.06–2.13 and OR, 0.73; 95% CI, 0.53–1.00, respectively). The haplotype near ASIP (rs4911414[T] and rs1015362[G]) was significantly associated with fair skin color (OR, 2.28; 95% CI, 1.46–3.57) as well as the risks of melanoma (OR, 1.68; 95% CI

Systematic review of vestibular disorders related to human immunodeficiency virus and acquired immunodeficiency syndrome.

PubMed

Heinze, B; Swanepoel, D W; Hofmeyr, L M

2011-09-01

Disorders of the auditory and vestibular system are often associated with human immunodeficiency virus infection and acquired immunodeficiency syndrome. However, the extent and nature of these vestibular manifestations are unclear. To systematically review the current peer-reviewed literature on vestibular manifestations and pathology related to human immunodeficiency virus and acquired immunodeficiency syndrome. Systematic review of peer-reviewed articles related to vestibular findings in individuals with human immunodeficiency virus infection and acquired immunodeficiency syndrome. Several electronic databases were searched. We identified 442 records, reduced to 210 after excluding duplicates and reviews. These were reviewed for relevance to the scope of the study. We identified only 13 reports investigating vestibular functioning and pathology in individuals affected by human immunodeficiency virus and acquired immunodeficiency syndrome. This condition can affect both the peripheral and central vestibular system, irrespective of age and viral disease stage. Peripheral vestibular involvement may affect up to 50 per cent of patients, and central vestibular involvement may be even more prevalent. Post-mortem studies suggest direct involvement of the entire vestibular system, while opportunistic infections such as oto- and neurosyphilis and encephalitis cause secondary vestibular dysfunction resulting in vertigo, dizziness and imbalance. Patients with human immunodeficiency virus and acquired immunodeficiency syndrome should routinely be monitored for vestibular involvement, to minimise functional limitations of quality of life.

Genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry

PubMed Central

Rawofi, Lida; Edwards, Melissa; Krithika, S; Le, Phuong; Cha, David; Yang, Zhaohui; Ma, Yanyun; Wang, Jiucun; Su, Bing; Jin, Li; Norton, Heather L.

2017-01-01

Background Currently, there is limited knowledge about the genetics underlying pigmentary traits in East Asian populations. Here, we report the results of the first genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry. Methods We obtained quantitative skin pigmentation measures (M-index) in the inner upper arm of the participants using a portable reflectometer (N = 305). Quantitative measures of iris color (expressed as L*, a* and b* CIELab coordinates) were extracted from high-resolution iris pictures (N = 342). We also measured the color differences between the pupillary and ciliary regions of the iris (e.g., iris heterochromia). DNA samples were genotyped with Illumina’s Infinium Multi-Ethnic Global Array (MEGA) and imputed using the 1000 Genomes Phase 3 samples as reference haplotypes. Results For skin pigmentation, we did not observe any genome-wide significant signal. We followed-up in three independent Chinese samples the lead SNPs of five regions showing multiple common markers (minor allele frequency ≥ 5%) with good imputation scores and suggestive evidence of association (p-values < 10−5). One of these markers, rs2373391, which is located in an intron of the ZNF804B gene on chromosome 7, was replicated in one of the Chinese samples (p = 0.003). For iris color, we observed genome-wide signals in the OCA2 region on chromosome 15. This signal is driven by the non-synonymous rs1800414 variant, which explains 11.9%, 10.4% and 6% of the variation observed in the b*, a* and L* coordinates in our sample, respectively. However, the OCA2 region was not associated with iris heterochromia. Discussion Additional genome-wide association studies in East Asian samples will be necessary to further disentangle the genetic architecture of pigmentary traits in East Asian populations. PMID:29109912

Genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry.

PubMed

Rawofi, Lida; Edwards, Melissa; Krithika, S; Le, Phuong; Cha, David; Yang, Zhaohui; Ma, Yanyun; Wang, Jiucun; Su, Bing; Jin, Li; Norton, Heather L; Parra, Esteban J

2017-01-01

Currently, there is limited knowledge about the genetics underlying pigmentary traits in East Asian populations. Here, we report the results of the first genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry. We obtained quantitative skin pigmentation measures (M-index) in the inner upper arm of the participants using a portable reflectometer ( N  = 305). Quantitative measures of iris color (expressed as L*, a* and b* CIELab coordinates) were extracted from high-resolution iris pictures ( N  = 342). We also measured the color differences between the pupillary and ciliary regions of the iris (e.g., iris heterochromia). DNA samples were genotyped with Illumina's Infinium Multi-Ethnic Global Array (MEGA) and imputed using the 1000 Genomes Phase 3 samples as reference haplotypes. For skin pigmentation, we did not observe any genome-wide significant signal. We followed-up in three independent Chinese samples the lead SNPs of five regions showing multiple common markers (minor allele frequency ≥ 5%) with good imputation scores and suggestive evidence of association ( p -values < 10 -5 ). One of these markers, rs2373391, which is located in an intron of the ZNF804B gene on chromosome 7, was replicated in one of the Chinese samples ( p  = 0.003). For iris color, we observed genome-wide signals in the OCA2 region on chromosome 15. This signal is driven by the non-synonymous rs1800414 variant, which explains 11.9%, 10.4% and 6% of the variation observed in the b*, a* and L* coordinates in our sample, respectively. However, the OCA2 region was not associated with iris heterochromia. Additional genome-wide association studies in East Asian samples will be necessary to further disentangle the genetic architecture of pigmentary traits in East Asian populations.

Pigment Dispersion Syndrome Progression to Pigmentary Glaucoma in a Latin American Population.

PubMed

Gomez Goyeneche, Hector Fernando; Hernandez-Mendieta, Diana Patricia; Rodriguez, Diego Andres; Sepulveda, Ana Irene; Toledo, Jose Daniel

2015-01-01

To determine the progression of pigment dispersion syndrome (PDS) into pigmentary glaucoma (PG) in a population at the Central Military Hospital in Bogotá, Colombia. A retrospective study was conducted, based on a review of medical records of patients with PDS evaluated in the Glaucoma Clinic. Data were collected in a database in excel and subsequently analyzed with the software Statistical Package for the Social Sciences (SPSS), performing Chi-square test analysis and Spearman's rho test. Forty-eight eyes of 24 patients were included. Forty-two percent were women and 58% were men. Pigmentation of the trabecular meshwork was the most frequent clinical sign (100%), followed by Krukenberg's spindle (91.7%), the least frequent were the iris concavity and iris heterochromia (4.2%), the average of the spherical equivalent was of - 1.33 (SD 2.07). The rate of conversion of PDS to PG was 37.5%, after an average follow-up of 50.7 months. Having an intraocular pressure (IOP) greater than 21 mm Hg was statistically the only significant risk factor for conversion. We found several differences in frequency and clinical signs in these patients in contrast to previous data, probably due to different racial characteristics. The rate of progression is similar to previous reports despite of heterogeneity of these. Having IOP > 21 mm Hg was the only risk factor associated with progression in this sample. How to cite this article: Gomez Goyeneche HF, Hernandez-Mendieta DP, Rodriguez DA, Sepulveda AI, Toledo JD. Pigment Dispersion Syndrome Progression to Pigmentary Glaucoma in a Latin American Population. J Curr Glaucoma Pract 2015;9(3):69-72.

Pigment Dispersion Syndrome Progression to Pigmentary Glaucoma in a Latin American Population

PubMed Central

Hernandez-Mendieta, Diana Patricia; Rodriguez, Diego Andres; Sepulveda, Ana Irene; Toledo, Jose Daniel

2015-01-01

ABSTRACT Objective: To determine the progression of pigment dispersion syndrome (PDS) into pigmentary glaucoma (PG) in a population at the Central Military Hospital in Bogotá, Colombia. Materials and methods: A retrospective study was conducted, based on a review of medical records of patients with PDS evaluated in the Glaucoma Clinic. Data were collected in a database in excel and subsequently analyzed with the software Statistical Package for the Social Sciences (SPSS), performing Chi-square test analysis and Spearman’s rho test. Results: Forty-eight eyes of 24 patients were included. Forty-two percent were women and 58% were men. Pigmentation of the trabecular meshwork was the most frequent clinical sign (100%), followed by Krukenberg’s spindle (91.7%), the least frequent were the iris concavity and iris heterochromia (4.2%), the average of the spherical equivalent was of - 1.33 (SD 2.07). The rate of conversion of PDS to PG was 37.5%, after an average follow-up of 50.7 months. Having an intraocular pressure (IOP) greater than 21 mm Hg was statistically the only significant risk factor for conversion. Conclusion: We found several differences in frequency and clinical signs in these patients in contrast to previous data, probably due to different racial characteristics. The rate of progression is similar to previous reports despite of heterogeneity of these. Having IOP > 21 mm Hg was the only risk factor associated with progression in this sample. How to cite this article: Gomez Goyeneche HF, Hernandez-Mendieta DP, Rodriguez DA, Sepulveda AI, Toledo JD. Pigment Dispersion Syndrome Progression to Pigmentary Glaucoma in a Latin American Population. J Curr Glaucoma Pract 2015;9(3):69-72. PMID:26997839

Role of Radiologic Imaging in Genetic and Acquired Neuromuscular Disorders.

PubMed

Ortolan, Paolo; Zanato, Riccardo; Coran, Alessandro; Beltrame, Valeria; Stramare, Roberto

2015-03-11

Great technologic and clinical progress have been made in the last two decades in identifying genetic defects of several neuromuscular diseases, as Spinal Muscular Atrophy, genetic muscular dystrophies and other genetic myopathies. The diagnosis is usually challenging, due to great variability in genetic abnormalities and clinical phenotypes and the poor specificity of complementary analyses, i.e., serum creatine kinase (CK) and electrophysiology. Muscle biopsy represents the gold standard for the diagnosis of genetic neuromuscular diseases, but clinical imaging of muscle tissue is an important diagnostic tool to identify and quantifyies muscle damage. Radiologic imaging is, indeed, increasingly used as a diagnostic tool to describe patterns and the extent of muscle involvement, thanks to modern techniques that enable to definethe definition of degrees of muscle atrophy and changes in connective tissue. They usually grade the severity of the disease process with greater accuracy than clinical scores. Clinical imaging is more than complementary to perform muscle biopsy, especially as ultrasound scans are often mandatory to identify the muscle to be biopsied. We will here detail and provideWe will herein provide detailed examples of the radiologic methods that can be used in genetic and acquired neuromuscular disorders, stressing pros and cons. Muscle Imaging, MRI, CT, genetic muscle disorders, myopathies, dystrophies.

Role of Radiologic Imaging in Genetic and Acquired Neuromuscular Disorders

PubMed Central

Zanato, Riccardo; Coran, Alessandro; Beltrame, Valeria; Stramare, Roberto

2015-01-01

Great technologic and clinical progress have been made in the last two decades in identifying genetic defects of several neuromuscular diseases, as Spinal Muscular Atrophy, genetic muscular dystrophies and other genetic myopathies. The diagnosis is usually challenging, due to great variability in genetic abnormalities and clinical phenotypes and the poor specificity of complementary analyses, i.e., serum creatine kinase (CK) and electrophysiology. Muscle biopsy represents the gold standard for the diagnosis of genetic neuromuscular diseases, but clinical imaging of muscle tissue is an important diagnostic tool to identify and quantifyies muscle damage. Radiologic imaging is, indeed, increasingly used as a diagnostic tool to describe patterns and the extent of muscle involvement, thanks to modern techniques that enable to definethe definition of degrees of muscle atrophy and changes in connective tissue. They usually grade the severity of the disease process with greater accuracy than clinical scores. Clinical imaging is more than complementary to perform muscle biopsy, especially as ultrasound scans are often mandatory to identify the muscle to be biopsied. We will here detail and provideWe will herein provide detailed examples of the radiologic methods that can be used in genetic and acquired neuromuscular disorders, stressing pros and cons. Key Words: Muscle Imaging, MRI, CT, genetic muscle disorders, myopathies, dystrophies PMID:26913153

Follicular Dowling Degos disease: a rare variant of an evolving dermatosis.

PubMed

Singh, Saurabh; Khandpur, Sujay; Verma, Parul; Singh, Manoj

2013-01-01

Dowling Degos disease is a rare, reticulate pigmentary disorder with variable phenotypic expression that manifests as hyperpigmented macules and reticulate pigmentary anomaly of the flexures. Many variants of this condition and its overlap with other reticulate pigmentary disorders have been reported in the literature. We present here two cases of DDD with follicular localization, both clinically and histologically. It was associated with ichthyosis vulgaris in one case. Follicular DDD is an uncommon variant of this evolving dermatosis. Our report supports the possible role for disordered follicular keratinisation in its pathogenesis.

Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.

PubMed

Yang, T; Li, X; Huang, Q; Li, L; Chai, Y; Sun, L; Wang, X; Zhu, Y; Wang, Z; Huang, Z; Li, Y; Wu, H

2013-01-01

Waardenburg syndrome (WS) is characterized by sensorineural hearing loss and pigmentary defects of the hair, skin, and iris. Heterozygous mutations of MITF and its transactivator gene PAX3 are associated with Waardenburg syndrome type II (WS2) and type I (WS1), respectively. Most patients with MITF or PAX3 mutations, however, show variable penetrance of WS-associated phenotypes even within families segregating the same mutation, possibly mediated by genetic background or specific modifiers. In this study, we reported a rare Waardenburg syndrome simplex family in which a pair of WS parents gave birth to a child with double heterozygous mutations of MITF and PAX3. Compared to his parents who carried a single mutation in either MITF or PAX3, this child showed increased penetrance of pigmentary defects including white forelock, white eyebrows and eyelashes, and patchy facial depigmentation. This observation suggested that the expression level of MITF is closely correlated to the penetrance of WS, and variants in transcription regulator genes of MITF may modify the relevant clinical phenotypes. © 2012 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd.

A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness.

PubMed

Crimi, M; Galbiati, S; Perini, M P; Bordoni, A; Malferrari, G; Sciacco, M; Biunno, I; Strazzer, S; Moggio, M; Bresolin, N; Comi, G P

2003-04-08

We have identified a heteroplasmic G to A mutation at position 12,183 of the mitochondrial transfer RNA Histidine (tRNA(His)) gene in three related patients. These phenotypes varied according to mutation heteroplasmy: one had severe pigmentary retinopathy, neurosensorial deafness, testicular dysfunction, muscle hypotrophy, and ataxia; the other two had only retinal and inner ear involvement. The mutation is in a highly conserved region of the T(psi)C stem of the tRNA(His) gene and may alter secondary structure formation. This is the first described pathogenic, maternally inherited mutation of the mitochondrial tRNA(His) gene.

Characteristics of, prevalence of, and risk factors for corneal pigmentation (pigmentary keratopathy) in Pugs.

PubMed

Labelle, Amber L; Dresser, Christine B; Hamor, Ralph E; Allender, Matthew C; Disney, Julia L

2013-09-01

To determine the characteristics of, prevalence of, and risk factors for corneal pigmentation (CP) in Pugs. Prospective cross-sectional study. 295 Pugs > 16 weeks old. Ophthalmic examination of the anterior segment of each eye was performed, including determination of tear film characteristics (Schirmer tear test and tear film breakup time) and corneal sensitivity. Digital photographs of the head and each eye were obtained. Corneal pigmentation of eyes was graded as absent, very mild, mild, moderate, or severe. Signalment and medical history information and American Kennel Club registration status were recorded. Results-CP was detected in at least 1 eye of 243 of the 295 (82.4%) Pugs; CP was typically very mild or mild. Detection of CP was not significantly associated with coat color, age, eyelid conformation, or tear film characteristics but was significantly associated with sex of dogs. The severity of CP was not significantly associated with American Kennel Club registration status or age, but was significantly associated with sex, tear film characteristics, and coat color. Iris hypoplasia was detected in 72.1% of the Pugs. Iris-to-iris persistent pupillary membranes were detected in 85.3% of the Pugs. Prevalence of CP in Pugs in this study was high. Unexpectedly high prevalences of iris hypoplasia and persistent pupillary membranes were also identified. The condition identified in these Pugs was a pigmentary keratopathy, rather than pigmentary keratitis or corneal melanosis. This condition may have a genetic basis, and further studies are warranted to determine etiology.

Presentation of an acquired urea cycle disorder post liver transplantation.

PubMed

Ghabril, Marwan; Nguyen, Justin; Kramer, David; Genco, Trina; Mai, Martin; Rosser, Barry G

2007-12-01

The liver's role as the largest organ of metabolism and the unique and often critical function of liver-specific enzyme pathways imply a greater risk to the recipient of acquiring a donor metabolic disease with liver transplants versus other solid organ transplants. With clinical consequences rarely reported, the frequency of solid organ transplant transfer of metabolic disease is not known. Ornithine transcarbamylase deficiency (OTCD), although rare, is the most common of the urea cycle disorders (UCDs). Because of phenotypic heterogeneity, OTCD may go undiagnosed into adulthood. With over 5000 liver transplant procedures annually in the United States, the likelihood of unknowingly transmitting OTCD through liver transplantation is very low. We describe the clinical course of a liver transplant recipient presenting with acute hyperammonemia and encephalopathy after receiving a liver graft form a donor with unrecognized OTCD. Copyright (c) 2007 AASLD.

Pigment dispersion syndrome and pigmentary glaucoma after secondary sulcus transscleral fixation of single-piece foldable posterior chamber intraocular lenses in Chinese aphakic patients.

PubMed

Tong, Nianting; Liu, Fuling; Zhang, Ting; Wang, Liangyu; Zhou, Zhanyu; Gong, Huimin; Yuan, Fuxiang

2017-05-01

To describe secondary pigment dispersion syndrome (PDS) and pigmentary glaucoma after secondary sulcus transscleral fixation of 1-piece hydrophobic acrylic foldable posterior chamber intraocular lenses (PC IOLs) in aphakic patients in a Chinese population. Department of Ophthalmology, Qingdao Municipal Hospital, Qingdao, China. Retrospective case series. This chart review included eyes that had secondary sulcus transscleral fixation of a 1-piece hydrophobic acrylic foldable PC IOL (Tecnis ZCB00) between March 2011 and March 2014. The patients' demographic data, clinical data, postoperative complications, intervals between initial surgery and the onset of PDS, pigmentary glaucoma occurrences, and findings on slitlamp biomicroscopy, gonioscopy, and ultrasound biomicroscopy (UBM) were recorded. The study comprised 23 consecutive eyes of 21 patients. Seventeen eyes of 16 patients were diagnosed with PDS, and 7 eyes of 6 patients were diagnosed with pigmentary glaucoma. The slitlamp examination and UBM showed that the location between the IOL optic and the posterior surface of the iris was very close. Slitlamp examination of the anterior chamber angle using a gonioscope showed dense pigment deposition on the IOL surfaces. A reverse pupillary block was found in 10 eyes of 9 patients. Other postoperative complications included intraocular hemorrhage, pupillary capture of the IOL optic, IOL tilt, IOL decentration, IOL dislocation, and suture erosion. The 1-piece hydrophobic acrylic foldable PC IOL was not suitable for sulcus transscleral fixation because of a high incidence of PDS and pigmentary glaucoma after surgery in a Chinese population. Copyright © 2017 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

"… Trial and error …": Speech-language pathologists' perspectives of working with Indigenous Australian adults with acquired communication disorders.

PubMed

Cochrane, Frances Clare; Brown, Louise; Siyambalapitiya, Samantha; Plant, Christopher

2016-10-01

This study explored speech-language pathologists' (SLPs) perspectives about factors that influence clinical management of Aboriginal and Torres Strait Islander adults with acquired communication disorders (e.g. aphasia, motor speech disorders). Using a qualitative phenomenological approach, seven SLPs working in North Queensland, Australia with experience working with this population participated in semi-structured in-depth interviews. Qualitative content analysis was used to identify categories and overarching themes within the data. Four categories, in relation to barriers and facilitators, were identified from participants' responses: (1) The Practice Context; (2) Working Together; (3) Client Factors; and (4) Speech-Language Pathologist Factors. Three overarching themes were also found to influence effective speech pathology services: (1) Aboriginal and Torres Strait Islander Cultural Practices; (2) Information and Communication; and (3) Time. This study identified many complex and inter-related factors which influenced SLPs' effective clinical management of this caseload. The findings suggest that SLPs should employ a flexible, holistic and collaborative approach in order to facilitate effective clinical management with Aboriginal and Torres Strait Islander people with acquired communication disorders.

[Selective retina therapy in central serous chorioretinopathy with detachment of the pigmentary epithelium].

PubMed

Klatt, C; Elsner, H; Pörksen, E; Brinkmann, R; Bunse, A; Birngruber, R; Roider, J

2006-10-01

Selective Retina Therapy (SRT) is a new and innovative laser treatment modality that selectively treats the retinal pigmentary epithelium while sparing the photoreceptors. This therapeutic concept appears to be particularly suitable for treating patients with acute or chronic central serous chorioretinopathy (CSC). We present preliminary results obtained in five patients who had CSC associated with pigmentary epithelium detachment (PED) and serous subretinal fluid (SRF) and who were treated with SRT. This case series was made up of five male patients (mean age 47 years) with chronic CSC and SRF resulting from PED. Examinations performed before and at 1 month and 3 months after the treatment were: BCVA, FLA, OCT (Zeiss OCT III). For SRT, confluent treatment of the PED (area of leakage) was carried out using a pulsed frequency-doubled, Q-switched Nd-YLF prototype laser (lambda=527 nm, t= 1.7 s, 100 Hz, energy = 150-250 J). Best corrected visual acuity at baseline was 0.53, while after 4 weeks it was 0.56 and after 12 weeks, 0.5. At baseline leakage was seen at the PED on fluorescein angiography in all patients. After 4 weeks leakage activity was no longer noted on angiography in 4 of 5 patients. OCT at baseline showed SRF at the edge of the PED in all patients, but in 4 of the 5 patients this was no longer detectable after 4 weeks. SRT is a safe and effective treatment for patients with CSC in which PED has caused SRF. Not a single case of rip syndrome was observed in this study, even though the PED was treated confluently. Since SRT spares the photoreceptors it is particularly suitable for the treatment of CSC, especially when the origin of leakage is located close to the fovea. The results indicate that SRT leads to reconstruction of the outer blood-retina barrier.

The inhibition of acquired fear.

PubMed

Izquierdo, Iván; Cammarota, Martín; Vianna, Mónica M R; Bevilaqua, Lía R M

2004-01-01

A conditioned stimulus (CS) associated with a fearsome unconditioned stimulus (US) generates learned fear. Acquired fear is at the root of a variety of mental disorders, among which phobias, generalized anxiety, the posttraumatic stress disorder (PTSD) and some forms of depression. The simplest way to inhibit learned fear is to extinguish it, which is usually done by repeatedly presenting the CS alone, so that a new association, CS-"no US", will eventually overcome the previously acquired CS-US association. Extinction was first described by Pavlov as a form of "internal inhibition" and was recommended by Freud and Ferenczi in the 1920s (who called it "habituation") as the treatment of choice for phobic disorders. It is used with success till this day, often in association with anxiolytic drugs. Extinction has since then been applied, also successfully and also often in association with anxiolytics, to the treatment of panic, generalized anxiety disorders and, more recently, PTSD. Extinction of learned fear involves gene expression, protein synthesis, N-methyl-D-aspartate (NMDA) receptors and signaling pathways in the hippocampus and the amygdala at the time of the first CS-no US association. It can be enhanced by increasing the exposure to the "no US" component at the time of behavioral testing, to the point of causing the complete uninstallment of the original fear response. Some theorists have recently proposed that reiteration of the CS alone may induce a reconsolidation of the learned behavior instead of its extinction. Reconsolidation would preserve the original memory from the labilization induced by its retrieval. If true, this would of course be disastrous for the psychotherapy of fear-motivated disorders. Here we show that neither the CS nor retrieval cause anything remotely like reconsolidation, but just extinction. In fact, our findings indicate that the reconsolidation hypothesis is essentially incorrect, at least for the form of contextual fear most

Molecular Genetics of Pigment Dispersion Syndrome and Pigmentary Glaucoma: New Insights into Mechanisms

PubMed Central

2018-01-01

We explore the ideas and advances surrounding the genetic basis of pigment dispersion syndrome (PDS) and pigmentary glaucoma (PG). As PG is the leading cause of nontraumatic blindness in young adults and current tailored interventions have proven ineffective, a better understanding of the underlying causes of PDS, PG, and their relationship is essential. Despite PDS being a subclinical disease, a large proportion of patients progress to PG with associated vision loss. Decades of research have supported a genetic component both for PDS and conversion to PG. We review the body of evidence supporting a genetic basis in humans and animal models and reevaluate classical mechanisms of PDS/PG considering this new evidence. PMID:29780638

Molecular Genetics of Pigment Dispersion Syndrome and Pigmentary Glaucoma: New Insights into Mechanisms.

PubMed

Lahola-Chomiak, Adrian A; Walter, Michael A

2018-01-01

We explore the ideas and advances surrounding the genetic basis of pigment dispersion syndrome (PDS) and pigmentary glaucoma (PG). As PG is the leading cause of nontraumatic blindness in young adults and current tailored interventions have proven ineffective, a better understanding of the underlying causes of PDS, PG, and their relationship is essential. Despite PDS being a subclinical disease, a large proportion of patients progress to PG with associated vision loss. Decades of research have supported a genetic component both for PDS and conversion to PG. We review the body of evidence supporting a genetic basis in humans and animal models and reevaluate classical mechanisms of PDS/PG considering this new evidence.

Post-traumatic seizure disorder following acquired brain injury.

PubMed

Teasell, Robert; Bayona, Nestor; Lippert, Corbin; Villamere, James; Hellings, Chelsea

2007-02-01

The present study aimed to evaluate the effectiveness of prophylactic anticonvulsant pharmacological strategies for the prevention of seizure disorders following acquired brain injury (ABI) to provide guidance for clinical practice based on the best available evidence. A systematic review of the literature from 1980-2005 was conducted focusing on treatment interventions available for post-traumatic seizures following ABI. The evidence for the efficacy of a given intervention was ranked as strong (supported by at least two randomized controlled trials (RCTs), moderate (supported by a single RCT), or limited (supported by other types of studies in the absence of RCTs). Based on a previous meta-analysis and the findings of this review, there is strong evidence that prophylactic anticonvulsant therapy decreases the occurrence of early seizures but only within the first week post-injury. Moreover, the evidence indicates that prophylactic anticonvulsant therapy does not decrease the incidence of seizure onset more than one week post-injury. In children, there is moderate evidence that prophylactic phenytoin does not reduce the incidence of early or late seizures. The efficacy of anticonvulsants after the development of seizures has not been specifically studied in ABI. Prophylactic anti-convulsants are effective in reducing seizures in the first week post-injury in adults. However, they do not reduce the occurrence of seizures after the first week.

Laugier-Hunziker syndrome: A case report and review of the literature.

PubMed

Rangwala, Sophia; Doherty, Christy B; Katta, Rajani

2010-12-15

Laugier-Hunziker syndrome (LHS) is a rare acquired disorder characterized by diffuse macular hyperpigmentation of the oral mucosa and, at times, longitudinal melanonychia. Although LHS is considered a benign disease with no systemic manifestations or malignant potential, it is important to rule out other mucocutaneous pigmentary disorders that do require medical management. Prompt clinical recognition also averts the need for excessive and invasive procedures and treatments. To date, only four cases have been reported in the United States. We present a 77-year-old man who had clinical features typical of LHS and we then provide a review of the literature on LHS and its mimickers.

Comparison of a therapeutic-only versus prophylactic platelet transfusion policy for people with congenital or acquired bone marrow failure disorders

PubMed Central

Ashraf, Asma; Hadjinicolaou, Andreas V; Doree, Carolyn; Hopewell, Sally; Trivella, Marialena; Estcourt, Lise J

2016-01-01

This is the protocol for a review and there is no abstract. The objectives are as follows: To compare a therapeutic-only versus prophylactic platelet transfusion policy for people with myelodysplasia, inherited or acquired aplastic anaemia, and other congenital bone marrow failure disorders. PMID:27660553

Leopard spot retinal pigmentation in infancy indicating a peroxisomal disorder.

PubMed

Lyons, C J; Castano, G; McCormick, A Q; Applegarth, D

2004-02-01

Neonatal adrenoleucodystrophy (NALD) is a rare disorder resulting from abnormal peroxisomal biogenesis. Affected patients present in infancy with developmental delay, hypotonia, and seizures. Blindness and nystagmus are prominent features. The authors suggest a characteristic leopard spot pigmentary pattern in the peripheral retina to be diagnostic. Three patients are reported with this presentation; the characteristic retinal appearance resulted in early diagnosis for one of these. Leopard spot retinopathy in an infant with hypotonia, seizures, developmental delay, with or without dysmorphic features and hearing impairment, is a clue to the diagnosis of NALD.

A Patient with Keratoconus, Nanophthalmos, Lipodermoids, and Pigmentary Retinopathy.

PubMed

Sammouh, Fady K; Baban, Tania A; Warrak, Elias L

2016-06-01

A 44-year-old male with no pertinent history other than poor vision for more than 25 years was examined. Best corrected visual acuity was 20/80 OD [MR: +14.25 +1.00 × 15°] and 20/200 OS [MR: +15.00 +1.50 × 175°]. Significant limitation in ocular movements and the presence of an orbital lipodermoid in the infero-temporal aspect of each eye were noted. Forced duction test was positive for the same directions of limitation indicating possible extraocular muscle fibrosis. Ophthalmoscopy was remarkable for the presence of peripheral bony spicules. Corneal topography was compatible with keratoconus (Kmax = 55.04D OD and 52.87D OS). A-scan revealed axial lengths of 16.96 mm OD and 16.32 mm OS, compatible with a diagnosis of nanophthalmos. OCT revealed diffuse macular thickening for both eyes with foveal thickness of 350 µm OD and 353 µm OS. Over the next 12 years the patient had stable visual acuity, manifest refractions and anterior segment examination. Ophthalmoscopy revealed only minimal progression of pigmentary changes. We report the first case of these simultaneous multiple findings which may refer to a possible syndromic association of congenital or early childhood onset.

Aetiological profile of acquired anaemia in a paediatric tertiary care setting.

PubMed

Bibi, Saima; Gilani, Syed Yasir Hussain; Shah, Syed Raza Ali; Bibi, Shawana

2011-01-01

Anaemia is the commonest haematological disorder frequently faced by clinicians worldwide. The multi-factorial aetiology of the disorder warrants a comprehensive search for the different causes as management plans differ for different disorders. The objective of this study was to identify the different acquired causes of anaemia in our paediatric population. The study was conducted at the Department of Paediatrics, Ayub Teaching Hospital from April 2009 to April 2010. It was a cross-sectional study. A total of 110 patients were included in the study who presented with anaemia secondary to acquired aetiologies and were assessed clinically using general physical and systemic examination. The salient clinical and laboratory data was retrieved in designed protocol. Out of a total of 110 patients, 61 (55.5%) were male and 49 (44.5%) were female. Mean age of the participants was 48 months. Nutritional anaemia comprising iron deficiency anaemia and megaloblastic anaemia was the leading cause being present in 49 (44.5%) patients followed by Visceral Leishmaniasis in 28 (25.5%) patients. Mean haemoglobin was 4.36 g/dl. Anaemia secondary to acquired causes is a disorder with grave consequences ranging from cognitive and psychomotor dysfunction to mortality in severe cases. Identification of the different acquired causes is important in preventing the disorder by guiding appropriate interventions.

Pigmentary traits, family history of melanoma and the risk of endometriosis: a cohort study of US women.

PubMed

Kvaskoff, Marina; Han, Jiali; Qureshi, Abrar A; Missmer, Stacey A

2014-02-01

Endometriosis has been associated with a higher risk of cutaneous melanoma, but the mechanisms underlying this association are unknown.Some constitutional factors known to influence melanoma risk have been associated with endometriosis in some retrospective studies. However, prospective data are scarce, and more research is needed to confirm this potentially novel endometriosis risk profile. To investigate the relationships between pigmentary traits, family history of melanoma and endometriosis risk, we analysed data from the Nurses’ Health Study II, a cohort of 116 430 female US nurses aged 25–42 years at inclusion in 1989. Data were collected every 2 years with 20 years of follow-up for these analyses. We used Cox proportional hazards regression models to compute relative risks(RRs) and 95% confidence intervals (CIs). During 1 212 499 woman-years of follow-up, 4763 cases of laparoscopically-confirmed endometriosis were reported among premenopausal Caucasian women. Endometriosis risk was increased with presence of naevi on the lower legs (RR=1.08, 95% CI=1.021.14) and higher level of skin’s burning reaction to sun exposure in childhood/adolescence (‘burn with blisters’: RR=1.20,95% CI=1.061.36) compared with ‘practically none’;P(trend)=0.0006) and family history of melanoma (RR=1.13, 95%CI=1.011.26). This assessment reports modest associations between several pigmentary traits, family history of melanoma and endometriosis risk,corroborating the results from previous retrospective studies. Our findings call for further research to better understand the mechanisms under lying these associations.

Spectrally tuned structural and pigmentary coloration of birdwing butterfly wing scales.

PubMed

Wilts, Bodo D; Matsushita, Atsuko; Arikawa, Kentaro; Stavenga, Doekele G

2015-10-06

The colourful wing patterns of butterflies play an important role for enhancing fitness; for instance, by providing camouflage, for interspecific mate recognition, or for aposematic display. Closely related butterfly species can have dramatically different wing patterns. The phenomenon is assumed to be caused by ecological processes with changing conditions, e.g. in the environment, and also by sexual selection. Here, we investigate the birdwing butterflies, Ornithoptera, the largest butterflies of the world, together forming a small genus in the butterfly family Papilionidae. The wings of these butterflies are marked by strongly coloured patches. The colours are caused by specially structured wing scales, which act as a chirped multilayer reflector, but the scales also contain papiliochrome pigments, which act as a spectral filter. The combined structural and pigmentary effects tune the coloration of the wing scales. The tuned colours are presumably important for mate recognition and signalling. By applying electron microscopy, (micro-)spectrophotometry and scatterometry we found that the various mechanisms of scale coloration of the different birdwing species strongly correlate with the taxonomical distribution of Ornithoptera species. © 2015 The Author(s).

Spectrally tuned structural and pigmentary coloration of birdwing butterfly wing scales

PubMed Central

Wilts, Bodo D.; Matsushita, Atsuko; Arikawa, Kentaro; Stavenga, Doekele G.

2015-01-01

The colourful wing patterns of butterflies play an important role for enhancing fitness; for instance, by providing camouflage, for interspecific mate recognition, or for aposematic display. Closely related butterfly species can have dramatically different wing patterns. The phenomenon is assumed to be caused by ecological processes with changing conditions, e.g. in the environment, and also by sexual selection. Here, we investigate the birdwing butterflies, Ornithoptera, the largest butterflies of the world, together forming a small genus in the butterfly family Papilionidae. The wings of these butterflies are marked by strongly coloured patches. The colours are caused by specially structured wing scales, which act as a chirped multilayer reflector, but the scales also contain papiliochrome pigments, which act as a spectral filter. The combined structural and pigmentary effects tune the coloration of the wing scales. The tuned colours are presumably important for mate recognition and signalling. By applying electron microscopy, (micro-)spectrophotometry and scatterometry we found that the various mechanisms of scale coloration of the different birdwing species strongly correlate with the taxonomical distribution of Ornithoptera species. PMID:26446560

Incidence and Long-term Outcomes of the HIV-Neuroretinal Disorder in Patients with the Acquired Immunodeficiency Syndrome

PubMed Central

Jabs, Douglas A.; Drye, Lea; Van Natta, Mark L.; Thorne, Jennifer E.; Holland, Gary N.

2014-01-01

Objectives Patients with the acquired immunodeficiency syndrome (AIDS) have an abnormality of retina/optic nerve function, manifested as decreased contrast sensitivity (in the absence of ocular opportunistic infections or media opacity), abnormalities on automated perimetry, and loss of retinal nerve fiber layer, even among those with good visual acuity, termed the HIV-neuroretinal disorder. The objectives of this study were to determine the prevalence, incidence, risk factors for, and outcomes of HIV-neuroretinal disorder. Design Prospective cohort study Participants 1822 patients with AIDS without ocular infections or media opacities. Methods Patients with HIV-neuroretinal disorder were identified by a contrast sensitivity < 1.50 log units in either eye in the absence of ocular opportunistic infections or media opacity. Main outcome measures Incidence of HIV-neuroretinal disorder, mortality, visual impairment (visual acuity 20/50 or worse), and blindness (20/200 or worse) on logarithmic visual acuity charts. Results Sixteen percent of participants had HIV-neuroretinal disorder at enrollment. The estimated cumulative incidence by 20 years after AIDS diagnosis was 51% (95% confidence interval [CI] 46%–55%). HIV-neuroretinal disorder was more common in women and African American persons. Risk factors for it included hepatitis C infection, low CD4+ T cells, and detectable HIV RNA in the blood. Patients with HIV neuroretinal disorder had a 70% excess mortality vs. those without it, even after adjusting for CD4+ T cells and HIV load (hazard ratio=1.7, 95% CI= 1.3–2.1, P<0.0001). Patients with HIV-neuroretinal disorder had increased risks of bilateral visual impairment (hazard ratio=6.5, 95% CI=2.6–10.6, P<0.0001) and blindness (hazard ratio=5.9, 95% CI=2.8–13.7, P=0.01) vs. those without HIV neuroretinal disorder. Conclusions HIV-neuroretinal disorder is a common finding among patients with AIDS, and it is associated with an increased mortality and an increased

Nevus count associations with pigmentary phenotype, histopathological melanoma characteristics and survival from melanoma

PubMed Central

Taylor, Nicholas J.; Thomas, Nancy E.; Anton-Culver, Hoda; Armstrong, Bruce K.; Begg, Colin B.; Busam, Klaus J.; Cust, Anne E.; Dwyer, Terence; From, Lynn; Gallagher, Richard P.; Gruber, Stephen B.; Nishri, Diane E.; Orlow, Irene; Rosso, Stefano; Venn, Alison J.; Zanetti, Roberto; Berwick, Marianne; Kanetsky, Peter A.

2016-01-01

Although nevus count is an established risk factor for melanoma, relationships between nevus number and patient and tumor characteristics have not been well studied and the influence of nevus count on melanoma-specific survival is equivocal. Using data from the Genes, Environment, and Melanoma (GEM) study, a large population-based study of primary cutaneous melanoma, we evaluated associations between number of nevi and patient features, including sun-sensitivity summarized in a phenotypic index, and tumor characteristics, and we assessed the association of nevus count with melanoma-specific survival. Higher nevus counts were independently and positively associated with male gender and younger age at diagnosis and inversely associated with lentigo maligna histology. We observed a borderline significant trend of poorer melanoma-specific survival with increasing quartile of nevus count, but little or no association between number of nevi and pigmentary phenotypic characteristics or prognostic tumor features. PMID:27101944

Predictors of Outcome following Acquired Brain Injury in Children

ERIC Educational Resources Information Center

Johnson, Abigail R.; DeMatt, Ellen; Salorio, Cynthia F.

2009-01-01

Acquired brain injury (ABI) in children and adolescents can result from multiple causes, including trauma, central nervous system infections, noninfectious disorders (epilepsy, hypoxia/ischemia, genetic/metabolic disorders), tumors, and vascular abnormalities. Prediction of outcomes is important, to target interventions, allocate resources,…

Additional Evidence Is Needed to Recommend Acquiring a Dog to Families of Children with Autism Spectrum Disorder: A Response to Wright and Colleagues

ERIC Educational Resources Information Center

Crossman, Molly K.; Kazdin, Alan E.

2016-01-01

Caregivers of children with autism spectrum disorder are vulnerable to overstated benefits of interventions, and such overstatements are common with interventions involving animals. This response to Wright, Hall, Hames, Hardmin, Mills, the Paws Team, and Mills' (2015) article, "Acquiring a Pet Dog Significantly Reduces Stress of Primary…

Laugier-Hunziker-Baran syndrome.

PubMed

Yago, Kaori; Tanaka, Yoichi; Asanami, Soichiro

2008-08-01

Laugier-Hunziker-Baran syndrome represents a rare acquired pigmentary disorder which has no relevance to internal disorders and has no familial association. There are few reports on histopathologic studies of this syndrome concerning Japanese individuals. The differential diagnosis of oral and pigmented lesions between Laugier-Hunziker-Baran syndrome and other disorders, Peutz-Jeghers syndrome in particular, requires our utmost consideration. Biopsy specimens of 2 cases were taken from pigmented maculae on the lower lips, buccal mucosa, tongue, and palate. Similar histopathologic findings were observed for all locations. The histopathologic examination showed that there was an accumulation of melanin in the basal layer as well as an increase in the number of melanophages in the subepithelial area. Oral scientists and clinicians must be familiar with Laugier-Hunziker-Baran syndrome, because this syndrome is probably more common than is generally recognized.

Interventions for eye movement disorders due to acquired brain injury.

PubMed

Rowe, Fiona J; Hanna, Kerry; Evans, Jennifer R; Noonan, Carmel P; Garcia-Finana, Marta; Dodridge, Caroline S; Howard, Claire; Jarvis, Kathryn A; MacDiarmid, Sonia L; Maan, Tallat; North, Lorraine; Rodgers, Helen

2018-03-05

Acquired brain injury can cause eye movement disorders which may include: strabismus, gaze deficits and nystagmus, causing visual symptoms of double, blurred or 'juddery' vision and reading difficulties. A wide range of interventions exist that have potential to alleviate or ameliorate these symptoms. There is a need to evaluate the effectiveness of these interventions and the timing of their implementation. We aimed to assess the effectiveness of any intervention and determine the effect of timing of intervention in the treatment of strabismus, gaze deficits and nystagmus due to acquired brain injury. We considered restitutive, substitutive, compensatory or pharmacological interventions separately and compared them to control, placebo, alternative treatment or no treatment for improving ocular alignment or motility (or both). We searched the Cochrane Central Register of Controlled Trials (CENTRAL) (containing the Cochrane Eyes and Vision Trials Register) (2017, Issue 5), MEDLINE Ovid, Embase Ovid, CINAHL EBSCO, AMED Ovid, PsycINFO Ovid, Dissertations & Theses (PQDT) database, PsycBITE (Psychological Database for Brain Impairment Treatment Efficacy), ISRCTN registry, ClinicalTrials.gov, Health Services Research Projects in Progress (HSRProj), National Eye Institute Clinical Studies Database and the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP). The databases were last searched on 26 June 2017. No date or language restrictions were used in the electronic searches for trials. We manually searched the Australian Orthoptic Journal, British and Irish Orthoptic Journal, and ESA, ISA and IOA conference proceedings. We contacted researchers active in this field for information about further published or unpublished studies. We included randomised controlled trials (RCTs) of any intervention for ocular alignment or motility deficits (or both) due to acquired brain injury. Two review authors independently selected studies and

Peripheral Reticular Pigmentary Degeneration and Choroidal Vascular Insufficiency, Studied by Ultra Wide-Field Fluorescein Angiography

PubMed Central

Bae, Kunho; Cho, Kyuyeon; Kang, Se Woong; Kim, Sang Jin; Kim, Jong Min

2017-01-01

Purpose To explore the pathogenesis of peripheral reticular pigmentary degeneration (PRPD) and its clinical significance. Methods This cross-sectional, observational study (conducted between January 2010 and May 2015) enrolled 441 eyes of 229 subjects, including 35 eyes with PRPD and 406 eyes without PRPD, which was identified by ultra-wide-field fluorescein angiography (UWFA). The distribution and angiographic circulation time of PRPD were assessed by UWFA. The frequencies of systemic and ophthalmologic comorbidities were compared between groups. Univariate and multivariate generalized estimation equation methods were used to determine the risk factors for PRPD. Results The patients with PRPD had a mean age of 75.7 ± 8.5 years (range, 59–93 years), whereas the patients without PRPD had a mean age of 60.1 ± 14.9 years (range, 9–92 years). All eyes with PRPD manifested the lesion in the superior nasal periphery with or without circumferential extension. Among those, only 16 eyes (45.7%) in the PRPD group showed distinctive features in the same location on fundus photographs. There was significant choroidal filling delay in the PRPD group when compared with the control group (1.42±1.22 vs. -0.02±1.05 seconds, P < 0.001). Multivariate regression analysis revealed that older age (P < 0.001), stroke (P = 0.018), ischemic optic neuropathy (P < 0.001), and age-related macular degeneration (P = 0.022) were significantly associated with PRPD. Conclusions UWFA may enhance the diagnostic sensitivity of PRPD. Choroidal vascular insufficiency with compromised systemic circulation in the elderly was related to the manifestation of PRPD. These results help to better understand the pathophysiology of PRPD. Co-existence of systemic and ophthalmic circulatory disorders should be considered in patients with PRPD. PMID:28114409

[Acquired angioedema – clinical characteristic of the patients diagnosed in 2012-2016 with acquired C1 inhibitor deficiency].

PubMed

Stobiecki, Marcin; Czarnobilska, Ewa; Obtułowicz, Krystyna

Acquired angioedema is a rare disease caused by a deficiency of C1 esterase inhibitor with recurrent swelling symptoms. It may occur in the course of lymphoproliferative disorders or autoimmune diseases. Symptoms resemble hereditary angioedema, and the only differentiating features is negative family history, late onset of symptoms and accompanying lymphoproliferative disorder. The aim of the study was to analyze the cases of acquired angioedema. The retrospective analysis of 341 patients from the registry of patients with C1 inhibitor deficiency. Results: We identified 4 patients among 119 with HAE (3.57%) diagnosed in this same period of time 2012-2016 who fulfilled the criteria of acquired edema. In two cases the primary reason of angioedema was lymphoproliferive disease, in two monoclonal gammapathy of unknown reason. We analyzed also the results of laboratory tests C4, C1 inhibitor, C1q. In all cases the face was dominated localization. After the treatment of primary lymphoproliferive disease, in two cases, we observed total remission of angioedema. Only one patient with gammapathy require treatment with C1 inhibitor during the attacks. In these case we observed both plasma deriver, and recombinant C1 inhibitor were effective.

Isolated acquired factor VII deficiency: review of the literature.

PubMed

Mulliez, Sylvie M N; Devreese, Katrien M J

2016-04-01

Isolated acquired factor VII (FVII) deficiency is a rare haemorrhagic disorder. We report what is currently known about the pathogenesis, clinical features, diagnosis, treatment and prognosis of acquired FVII deficiency. We performed a literature search and included all articles published between 1980 and August 2015. Acquired FVII deficiency has been reported in 42 patients. There are well-established clinical diseases associated with acquired FVII deficiency, most notably infections, malignancy and haematological stem cell transplantation. The exact pathogenesis of the diseases is still unknown, but different pathophysiological hypotheses have been suggested. The clinical manifestation of acquired FVII deficiency varies greatly in severity; asymptomatic course as well as severe life-threatening bleeding diathesis and fatal bleedings have been described.

Galvanic zinc-copper microparticles inhibit melanogenesis via multiple pigmentary pathways.

PubMed

Won, Yen-Kim; Lin, Connie B; Seiberg, Miri; Chen, Nannan; Hu, Yaping; Rossetti, Dianne; Saliou, Claude; Loy, Chong-Jin

2014-01-01

The endogenous electrical field of human skin plays an important role in many skin functions. However, the biological effects and mechanism of action of externally applied electrical stimulation on skin remain unclear. Recent study showed that galvanic zinc-copper microparticles produce electrical stimulation and reduce inflammatory and immune responses in intact skin, suggesting the important role of electrical stimulation in non-wounded skin. The objective of this study is to investigate the biological effect of galvanic zinc-copper microparticles on skin pigmentation. Our findings showed that galvanic zinc-copper microparticles inhibited melanogenesis in a human melanoma cell line (MNT-1), human keratinocytes and melanoma cells co-cultures, and in pigmented epidermal equivalents. Treatment of galvanic zinc-copper microparticles inhibited melanogenesis by reducing the promoter transactivation of tyrosinase and tyrosinase-related protein-1 in human melanoma cells. In a co-culture Transwell system of keratinocytes and melanoma cells, galvanic zinc-copper microparticles reduced melanin production via downregulation of endothelin-1 secretion from keratinocytes and reduced tyrosinase gene expression in melanoma cells. In addition, exposure of pigmented epidermal equivalents to galvanic zinc-copper microparticles resulted in reduced melanin deposition. In conclusion, our data demonstrated for the first time that galvanic zinc-copper microparticles reduced melanogenesis in melanoma cells and melanin deposition in pigmented epidermal equivalents by affecting multiple pigmentary pathways.

The use of electropalatography in the assessment and treatment of acquired motor speech disorders in adults: current knowledge and future directions.

PubMed

McAuliffe, Megan J; Ward, Elizabeth C

2006-01-01

Electropalatography (EPG) has been employed to measure speech articulation since the mid-1970s. This technique has predominately been used in experimental phonetic research and in the diagnosis and treatment of articulation disorders in children. However, there is a growing body of research employing EPG to diagnose and treat articulatory impairment associated with acquired motor speech disorder (MSD) in adults. The purpose of this paper was to (1) review the findings of studies pertaining to the assessment and treatment of MSDs in adults using EPG, (2) highlight current methodologies employed, and (3) discuss the potential limitations of EPG in the assessment and treatment of MSDs and examine directions for future applied research and treatment studies.

Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.

PubMed

Wilkin, Justin; Kerr, Natalie C; Byrd, Kathryn W; Ward, Jewell C; Iannaccone, Alessandro

2016-06-01

To report longitudinal phenotypic findings in a patient with Sanfilippo syndrome type IIIA, harboring SGSH mutations, one of which is novel. Heparan-N-sulfatidase enzyme function testing in skin fibroblasts and white blood cells and SGSH gene sequencing were obtained. Clinical office examinations, examinations under anesthesia, electroretinogram, spectral domain optical coherence tomography (SD-OCT), and fundus photography were performed over a 5-year period. Fundus examination revealed a progressive breadcrumb-like pigmentary retinopathy with perifoveal pigmentary involvement. SD-OCT showed loss of normal neuroretinal lamination and cystic macular changes responsive to treatment with carbonic anhydrase inhibitors. Electroretinography exhibited complex characteristics indicative of a generalized retinal rod > cone dysfunction with significant ON > OFF postreceptoral response compromise. Sequencing revealed compound heterozygous mutations in the SGSH gene, the novel c.88G > C (p.A30P) change and a second, previously reported one (c.734G > A, p.R245H). We have identified ocular features of a patient with Sanfilippo syndrome type IIIA harboring a novel SGHS mutation that were not previously known to occur in this disease - namely, a progressive retinopathy with distinctive features, cystic macular changes responsive to carbonic anhydrase inhibitors, and complex electroretinographic abnormalities consistent with postreceptoral dysfunction. SD-OCT imaging revealed retinal lamination changes consistent with previously reported histologic studies. Both the SD-OCT and the electroretinogram changes appear attributable to intraretinal deposition of heparan sulfate.

Retention of the cyanobacterial neurotoxin beta-N-methylamino-l-alanine in melanin and neuromelanin-containing cells--a possible link between Parkinson-dementia complex and pigmentary retinopathy.

PubMed

Karlsson, Oskar; Berg, Cecilia; Brittebo, Eva B; Lindquist, Nils Gunnar

2009-02-01

beta-N-methylamino-l-alanine (BMAA), a neurotoxic amino acid produced by cyanobacteria, has been suggested to be involved in the etiology of a neurodegenerative disease complex which includes Parkinson-dementia complex (PDC). In PDC, neuromelanin-containing neurons in substantia nigra are degenerated. Many PDC patients also have an uncommon pigmentary retinopathy. The aim of this study was to investigate the distribution of (3)H-BMAA in mice and frogs, with emphasis on pigment-containing tissues. Using autoradiography, a distinct retention of (3)H-BMAA was observed in melanin-containing tissues such as the eye and neuromelanin-containing neurons in frog brain. Analysis of the binding of (3)H-BMAA to Sepia melanin in vitro demonstrated two apparent binding sites. In vitro-studies with synthetic melanin revealed a stronger interaction of (3)H-BMAA with melanin during synthesis than the binding to preformed melanin. Long-term exposure to BMAA may lead to bioaccumulation in melanin- and neuromelanin-containing cells causing high intracellular levels, and potentially changed melanin characteristics via incorporation of BMAA into the melanin polymer. Interaction of BMAA with melanin may be a possible link between PDC and pigmentary retinopathy.

Acquired Auditory Verbal Agnosia and Seizures in Childhood

ERIC Educational Resources Information Center

Cooper, Judith A.; Ferry, Peggy C.

1978-01-01

The paper presents a review of cases of children with acquired aphasia with convulsive disorder and discusses clinical features of three additional children in whom the specific syndrome of auditory verbal agnosia was identified. (Author/CL)

Acquired Aplastic Anemia in Children

PubMed Central

Hartung, Helge D.; Olson, Timothy S.; Bessler, Monica

2013-01-01

SYNOPSIS This article provides a practice-based and concise review of the etiology, diagnosis, and management of acquired aplastic anemia in children. Bone marrow transplantation, immunosuppressive therapy, and supportive care are discussed in detail. The aim is to provide the clinician with a better understanding of the disease and to offer guidelines for the management of children with this uncommon yet serious disorder. PMID:24237973

Acquired dyslexia in a Turkish-English speaker.

PubMed

Raman, Ilhan; Weekes, Brendan S

2005-06-01

The Turkish script is characterised by completely transparent bidirectional mappings between orthography and phonology. To date, there has been no reported evidence of acquired dyslexia in Turkish speakers leading to the naïve view that reading and writing problems in Turkish are probably rare. We examined the extent to which phonological impairment and orthographic transparency influence reading disorders in a native Turkish speaker. BRB is a bilingual Turkish-English speaker with deep dysphasia accompanied by acquired dyslexia in both languages. The main findings are an effect of imageability on reading in Turkish coincident with surface dyslexia in English and preserved nonword reading. BRB's acquired dyslexia suggests that damage to phonological representations might have a consequence for learning to read in Turkish. We argue that BRB's acquired dyslexia has a common locus in chronic underactivation of phonological representations in Turkish and English. Despite a common locus, reading problems manifest themselves differently according to properties of the script and the type of task.

Body integrity identity disorder: the persistent desire to acquire a physical disability.

PubMed

First, Michael B; Fisher, Carl E

2012-01-01

Body integrity identity disorder (BIID) is a rare and unusual psychiatric condition characterized by a persistent desire to acquire a physical disability (e.g., amputation, paraplegia) since childhood that to date has not been formally described in the psychiatric nosology. Most BIID sufferers experience a chronic and dysphoric sense of inappropriateness regarding their being able-bodied, and many have been driven to actualize their desired disability through surreptitious surgical or other more dangerous methods. This review aims to characterize the history and phenomenology of this condition, to present its differential diagnosis, and to consider possible etiologies, treatment options, and ethical considerations. Review of the psychiatric and neurological literature. A growing body of data suggests the existence of a discrete entity with onset by early adolescence and a negative impact on functioning. Parallel neurological conditions and preliminary experimental investigations suggest a possible neurobiological component in at least a portion of cases. While attempts at treatment have been described, no systematic evidence for efficacy has emerged. BIID is a unique nosological entity with significant consequences for its sufferers and as such may warrant inclusion in some form in the forthcoming DSM-5 and ICD-11. Copyright © 2011 S. Karger AG, Basel.

"Surgical" abdomen in a patient with chronic lymphocytic leukemia: a case of acquired angioedema.

PubMed

Jung, Moonjung; Rice, Lawrence

2011-12-01

Acquired angioedema (AAE), an acquired deficiency of C1esterase inhibitor, is a medically treatable condition which can cause severe abdominal pain mimicking an acute surgical abdomen. This disorder is strongly associated with chronic lymphocytic leukemia (CLL) and other indolent lymphoplasmacytic disorders. We describe a patient with known CLL who developed incapacitating, recurrent severe abdominal pains, culminating in partial bowel resection. Signs, symptoms, laboratory and pathologic findings demonstrated AAE. Wider appreciation of the possibility of AAE, particularly in patients with lymphoproliferative disorders, could lead to preventive therapy and spare unnecessary surgery. This is more important now that more effective medical therapies are available.

Dnmt2 mediates intergenerational transmission of paternally acquired metabolic disorders through sperm small non-coding RNAs.

PubMed

Zhang, Yunfang; Zhang, Xudong; Shi, Junchao; Tuorto, Francesca; Li, Xin; Liu, Yusheng; Liebers, Reinhard; Zhang, Liwen; Qu, Yongcun; Qian, Jingjing; Pahima, Maya; Liu, Ying; Yan, Menghong; Cao, Zhonghong; Lei, Xiaohua; Cao, Yujing; Peng, Hongying; Liu, Shichao; Wang, Yue; Zheng, Huili; Woolsey, Rebekah; Quilici, David; Zhai, Qiwei; Li, Lei; Zhou, Tong; Yan, Wei; Lyko, Frank; Zhang, Ying; Zhou, Qi; Duan, Enkui; Chen, Qi

2018-05-01

The discovery of RNAs (for example, messenger RNAs, non-coding RNAs) in sperm has opened the possibility that sperm may function by delivering additional paternal information aside from solely providing the DNA 1 . Increasing evidence now suggests that sperm small non-coding RNAs (sncRNAs) can mediate intergenerational transmission of paternally acquired phenotypes, including mental stress 2,3 and metabolic disorders 4-6 . How sperm sncRNAs encode paternal information remains unclear, but the mechanism may involve RNA modifications. Here we show that deletion of a mouse tRNA methyltransferase, DNMT2, abolished sperm sncRNA-mediated transmission of high-fat-diet-induced metabolic disorders to offspring. Dnmt2 deletion prevented the elevation of RNA modifications (m 5 C, m 2 G) in sperm 30-40 nt RNA fractions that are induced by a high-fat diet. Also, Dnmt2 deletion altered the sperm small RNA expression profile, including levels of tRNA-derived small RNAs and rRNA-derived small RNAs, which might be essential in composing a sperm RNA 'coding signature' that is needed for paternal epigenetic memory. Finally, we show that Dnmt2-mediated m 5 C contributes to the secondary structure and biological properties of sncRNAs, implicating sperm RNA modifications as an additional layer of paternal hereditary information.

Increased Small-World Network Topology Following Deployment-Acquired Traumatic Brain Injury Associated with the Development of Post-Traumatic Stress Disorder.

PubMed

Rowland, Jared A; Stapleton-Kotloski, Jennifer R; Dobbins, Dorothy L; Rogers, Emily; Godwin, Dwayne W; Taber, Katherine H

2018-05-01

Cross-sectional and longitudinal studies in active duty and veteran cohorts have both demonstrated that deployment-acquired traumatic brain injury (TBI) is an independent risk factor for developing post-traumatic stress disorder (PTSD), beyond confounds such as combat exposure, physical injury, predeployment TBI, and pre-deployment psychiatric symptoms. This study investigated how resting-state brain networks differ between individuals who developed PTSD and those who did not following deployment-acquired TBI. Participants included postdeployment veterans with deployment-acquired TBI history both with and without current PTSD diagnosis. Graph metrics, including small-worldness, clustering coefficient, and modularity, were calculated from individually constructed whole-brain networks based on 5-min eyes-open resting-state magnetoencephalography (MEG) recordings. Analyses were adjusted for age and premorbid IQ. Results demonstrated that participants with current PTSD displayed higher levels of small-worldness, F(1,12) = 5.364, p < 0.039, partial eta squared = 0.309, and Cohen's d = 0.972, and clustering coefficient, F(1, 12) = 12.204, p < 0.004, partial eta squared = 0.504, and Cohen's d = 0.905, than participants without current PTSD. There were no between-group differences in modularity or the number of modules present. These findings are consistent with a hyperconnectivity hypothesis of the effect of TBI history on functional networks rather than a disconnection hypothesis, demonstrating increased levels of clustering coefficient rather than a decrease as might be expected; however, these results do not account for potential changes in brain structure. These results demonstrate the potential pathological sequelae of changes in functional brain networks following deployment-acquired TBI and represent potential neurobiological changes associated with deployment-acquired TBI that may increase the risk of subsequently developing PTSD.

Inherited and acquired disorders of myelin: the underling myelin pathology

PubMed Central

Duncan, Ian D.; Radcliff, Abigail B.

2016-01-01

Remyelination is a major therapeutic goal in human myelin disorders, serving to restore function to demyelinated axons and providing neuroprotection. The target disorders that might be amenable to the promotion of this repair process are diverse and increasing in number. They range primarily from those of genetic, inflammatory to toxic origin. In order to apply remyelinating strategies to these disorders, it is essential to know whether the myelin damage results from a primary attack on myelin or the oligodendrocyte or both, and whether indeed these lead to myelin breakdown and demyelination. In some disorders, myelin sheath abnormalities are prominent but demyelination does not occur. This review explores the range of human and animal disorders where myelin pathology exists and focusses on defining the myelin changes in each and their cause, to help define whether they are targets for myelin repair therapy. PMID:27068622

Characterization of Structural and Pigmentary Colors in Common Emigrant (Catopsilia Pomona) Butterfly

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ghate, Ekata; Kulkarni, G. R.; Bhoraskar, S. V.

2011-10-20

Study of structural colors in case of insects and butterflies is important for their biomimic and biophotonics applications. Structural color is the color which is produced by physical structures and their interaction with light while pigmentary color is produced by absorption of light by pigments. Common Emigrant butterfly is widely distributed in India. It is of moderate size with wing span of about 60-80 mm. The wings are broadly white with yellow or sulphur yellow coloration at places as well as few dark black patches. It belongs to family Pieridae. A study of structural color in case of Common Emigrantmore » butterfly has been carried out in the present work. The characterization of wing color was performed using absorption spectroscopy. Scanning electron microscopic study of the wings of Common Emigrant butterfly showed that three different types of scales are present on the wing surface dorsally. Diffracting structures are present in certain parts of the surfaces of the various scales. Bead like structures are embedded in the intricate structures of the scales. Absorption spectra revealed that a strong absorption peak is seen in the UV-range. Crystalline structure of beads was confirmed by the X-ray diffraction analysis.« less

Neuromuscular disorders in the intensive care unit.

PubMed

Marinelli, William A; Leatherman, James W

2002-10-01

Neuromuscular disorders encountered in the ICU can be categorized as muscular diseases that lead to ICU admission and those that are acquired in the ICU. This article discusses three neuromuscular disorders can lead to ICU admission and have a putative immune-mediated pathogenesis: the Guillian-Barré syndrome, myasthenia gravis, and dermatomyositis/polymyositis. It also reviews critical care polyneuropathy and ICU acquired myopathy, two disorders that, alone or in combination, are responsible for nearly all cases of severe ICU acquired muscle weakness.

Additional Evidence is Needed to Recommend Acquiring a Dog to Families of Children with Autism Spectrum Disorder: A Response to Wright and Colleagues.

PubMed

Crossman, Molly K; Kazdin, Alan E

2016-01-01

Caregivers of children with autism spectrum disorder are vulnerable to overstated benefits of interventions, and such overstatements are common with interventions involving animals. This response to Wright, Hall, Hames, Hardmin, Mills, the Paws Team, and Mills' (2015) article, "Acquiring a Pet Dog Significantly Reduces Stress of Primary Careers for Children with Autism Spectrum Disorder: A Prospective Case Control Study," details why that study's conclusions are premature. Specific limitations of the study are detailed, including overstatements of the supportive literature, problems with the design, and mismatch between the findings and conclusions. The purpose is not to challenge the benefits of pet ownership, but to point out that those benefits have not yet been established.

Experiences and expectations of return-to-work programs for nurses and midwives who have acquired a musculoskeletal disorder in the workplace: a qualitative systemic review protocol.

PubMed

Weckert, Christine; Stern, Cindy; Porritt, Kylie

2017-05-01

The objective of this systematic review is to identify and synthesize the best available evidence on the experiences and expectations of being involved in a program that aims to return nurses and midwives, who have acquired a musculoskeletal disorder (MSD) in the workplace, to work.The specific review questions are.

Connectionist neuropsychology: uncovering ultimate causes of acquired dyslexia.

PubMed

Woollams, Anna M

2014-01-01

Acquired dyslexia offers a unique window on to the nature of the cognitive and neural architecture supporting skilled reading. This paper provides an integrative overview of recent empirical and computational work on acquired dyslexia within the context of the primary systems framework as implemented in connectionist neuropsychological models. This view proposes that damage to general visual, phonological or semantic processing abilities are the root causes of different forms of acquired dyslexia. Recent case-series behavioural evidence concerning pure alexia, phonological dyslexia and surface dyslexia that supports this perspective is presented. Lesion simulations of these findings within connectionist models of reading demonstrate the viability of this approach. The commitment of such models to learnt representations allows them to capture key aspects of performance in each type of acquired dyslexia, particularly the associated non-reading deficits, the role of relearning and the influence of individual differences in the premorbid state of the reading system. Identification of these factors not only advances our understanding of acquired dyslexia and the mechanisms of normal reading but they are also relevant to the complex interactions underpinning developmental reading disorders.

Laugier-Hunziker syndrome: a case of asymptomatic mucosal and acral hyperpigmentation.

PubMed

Cusick, Elizabeth H; Marghoob, Ashfaq A; Braun, Ralph P

2017-04-01

Laugier-Hunziker syndrome (LHS) is a rare condition characterized by acquired hyperpigmentation involving the lips, oral mucosa, acral surfaces, nails and perineum. While patients with LHS may manifest pigmentation in all of the aforementioned areas, most present with pigmentation localized to only a few of these anatomical sites. We herein report a patient exhibiting the characteristic pigment distribution pattern associated with LHS. Since LHS is a diagnosis based on exclusion, we discuss the differential diagnosis of mucocutaneous hyperpigmentation. Due to the benign nature of the disease, it is critical to differentiate this disorder from conditions with similar mucocutaneous pigmentary changes with somatic abnormalities that require medical management. We also explore potential mechanisms that may explain the pathogenesis of LHS.

Evidence for pigmentary hematite on Mars based on optical, magnetic, and Moessbauer studies of superparamagnetic (nanocrystalline) hematite

NASA Technical Reports Server (NTRS)

Morris, Richard V.; Agresti, David G.; Newcomb, Jeffery A.; Shelfer, Tad D.; Lauer, Howard V., Jr.

1989-01-01

Samples containing variable amounts of superparamagnetic hematite (sp-Hm) were prepared by a method in which the sp-Hm particles were dispersed throughout larger particles of silica gel, and the optical and magnetic properties of these samples were compared with those of larger-diameter hematite (bulk-Hm). It is shown that the optical properties of sp-Hm are different from those of bulk-Hm. Implications of the results for mineralogical interpretations of spectral data for the Martian surface and its terrestrial analogues are discussed. It is concluded that features resulting from ferric iron in the Martian spectral data and the results of the Viking magnetic properties experiment are both consistent with hematite present as both sp-Hm and bulk-Hm; the hematite particles most likely occur in pigmentary form, i.e., as particles dispersed throughout the volume of a spectrally neutral material.

[Comparative evaluation of the effectiveness of various treatment modalities for accommodation disorders and acquired progressive myopia].

PubMed

Tarutta, E P; Tarasova, N A

2015-01-01

To evaluate the effectiveness of non-surgical treatment of accommodation disorders and progressive myopia in children. A total of 190 patients (380 eyes) with myopia aged from 6 to 18 years (10.79±0.18 years on average) were enrolled and divided into 9 groups depending on the treatment prescribed. Comparative evaluation of different hardware-based treatment modalities for progressive myopia allowed to work out their optimal combination: "Visotronic", "MACDEL 09", and magnetophoresis of Taufon 4%. Such courses, provided twice a year, were associated with optimization of accommodative response and 1.9-2.8 times reduction of the rate of myopia progression. On the contrary, pleoptic therapy showed a negative effect on accommodative tonus and the rate of progression of acquired myopia. Comparative evaluation of different hardware-based treatment modalities for progressive myopia and accommodation disorders allowed to work out their optimal combination: "Visotronic", "MACDEL 09" and magnetophoresis of Taufon 4%. This treatment, provided twice a year, allows to increase accommodative reserves and volume, improve objective accommodative response, and reduce accommodative hypertonus as well as the rate of myopia progression (1.9-2.8 times over a 1.5-year period). Under pleoptic therapy (specialized software, near field speckles, color pulse therapy, Ambliokor device), both accommodative tonus and the rate of myopia progression increased (1.3-1.5 and 1.6 times correspondingly).

[Acquired amegacaryocytic thrombocytopenic purpura hiding acute myeloid leukemia].

PubMed

Eddou, Hicham; Zinebi, Ali; Khalloufi, Abdelaziz; Sina, Mohammed; Mahtat, Mehdi; Doghmi, Kamal; Mikdame, Mohammed; Moudden, Mohammed Karim; Baaj, Mohammed El

2017-01-01

Acquired amegakaryocytic thrombocytopenic purpura is a very rare condition characterized by severe thrombocytopenia linked to the reduction or disappearance of megakaryocytes in the bone marrow. It may be primary idiopathic or secondary to many pathological conditions including hematologic disorders. We report the case of a 24-year-old patient admitted for haemorrhagic syndrome caused by immunological thrombocytopenic purpura. The diagnosis was acquired amegakaryocytosis after the failure of corticotherapy and the performance of myelography. The patient was treated with ciclosporin with rapid progression to acute myeloblastic leukemia. The progression of acquired amegakaryocytosis to acute leukemia is reported but it is generally not so rapid and above all it is preceded by myelodysplastic syndrome or medullary aplasia. This study highlights the importance of a close follow-up of these pathologies with a benign-like appearance.

Alcohol Use Disorders and Community-Acquired Pneumococcal Pneumonia: Associated Mortality, Prolonged Hospital Stay and Increased Hospital Spending.

PubMed

Gili-Miner, Miguel; López-Méndez, Julio; Béjar-Prado, Luis; Ramírez-Ramírez, Gloria; Vilches-Arenas, Ángel; Sala-Turrens, José

2015-11-01

The aim of this study was to investigate the impact of alcohol use disorders (AUD) on community-acquired pneumococcal pneumonia (CAPP) admissions, in terms of in-hospital mortality, prolonged stay and increased hospital spending. Retrospective observational study of a sample of CAPP patients from the minimum basic datasets of 87 Spanish hospitals during 2008-2010. Mortality, length of hospital stay and additional spending attributable to AUD were calculated after multivariate covariance analysis for variables such as age and sex, type of hospital, addictions and comorbidities. Among 16,202 non-elective admissions for CAPP in patients aged 18-74years, 2,685 had AUD. Patients admitted with CAPP and AUD were predominantly men with a higher prevalence of tobacco or drug use disorders and higher Charlson comorbidity index. Patients with CAPP and AUD had notably higher in-hospital mortality (50.8%; CI95%: 44.3-54.3%), prolonged length of stay (2.3days; CI95%: 2.0-2.7days) and increased costs (1,869.2€; CI95%: 1,498.6-2,239.8€). According to the results of this study, AUD in CAPP patients was associated with increased in-hospital mortality, length of hospital stay and hospital spending. Copyright © 2014 SEPAR. Published by Elsevier Espana. All rights reserved.

Reversible bull's-eye maculopathy associated with intravitreal fomivirsen therapy for cytomegalovirus retinitis.

PubMed

Stone, T W; Jaffe, G J

2000-08-01

To report two cases in which a bull's eye maculopathy developed after intravitreal injection of fomivirsen. Case reports. A 50-year-old man with acquired immunodeficiency syndrome (AIDS) and refractory cytomegalovirus retinitis developed bull's-eye pigmentary changes in the macula of the right eye after initiating therapy with fomivirsen (Vitravene; CIBA Vision, Atlanta, Georgia) intravitreal injections. These pigmentary changes resolved upon cessation of treatment. A 36-year-old man with AIDS and refractory bilateral cytomegalovirus retinitis developed bull's-eye pigmentary changes in both eyes during bilateral intravitreal treatment with fomivirsen. Vision was not affected. These changes resolved after treatment with fomivirsen was stopped. Fomivirsen, a new medication for the treatment of refractory cytomegalovirus retinitis, may cause a bull's-eye maculopathy in some patients. The bull's-eye maculopathy is reversible and does not appear to affect vision.

The pathophysiology of acquired premature ejaculation

PubMed Central

Jannini, Emmanuele A.; Serefoglu, Ege C.; Hellstrom, Wayne J. G.

2016-01-01

The second Ad Hoc International Society for Sexual Medicine (ISSM) Committee for the Definition of Premature Ejaculation defined acquired premature ejaculation (PE) as a male sexual dysfunction characterized by a the development of a clinically significant and bothersome reduction in ejaculation latency time in men with previous normal ejaculatory experiences, often to about 3 minutes or less, the inability to delay ejaculation on all or nearly all vaginal penetrations, and the presence of negative personal consequences, such as distress, bother, frustration and/or the avoidance of sexual intimacy. The literature contains a diverse range of biological and psychological etiological theories. Acquired PE is commonly due to sexual performance anxiety, psychological or relationship problems, erectile dysfunction (ED), and occasionally prostatitis and hyperthyroidism, consistent with the predominant organic etiology of acquired PE, men with this complaint are usually older, have a higher mean BMI and a greater incidence of comorbid disease including hypertension, sexual desire disorder, diabetes mellitus, chronic prostatitis, and ED compared to lifelong, variable and subjective PE. PMID:27652216

Coagulation disorders in pregnancy: acquired and inherited thrombophilias.

PubMed

Benedetto, Chiara; Marozio, Luca; Tavella, Anna Maria; Salton, Loredana; Grivon, Sara; Di Giampaolo, Francesca

2010-09-01

Both acquired and inherited thrombophilias are associated with an increased risk of pregnancy-related venous thromboembolism (VTE) as well as with adverse pregnancy outcome. However, the extension of attributable risk for each thrombophilia and outcome is still a question of debate. Thrombophilias have been investigated in connection with VTE and pregnancy complications such as: recurrent and nonrecurrent early pregnancy loss, late fetal death, placental abruption, fetal growth restriction, and preeclampsia. This review discusses the evidence of association between thrombophilias and pregnancy outcome together with issues as to clinical management and preventive strategies. © 2010 New York Academy of Sciences.

Connectionist neuropsychology: uncovering ultimate causes of acquired dyslexia

PubMed Central

Woollams, Anna M.

2014-01-01

Acquired dyslexia offers a unique window on to the nature of the cognitive and neural architecture supporting skilled reading. This paper provides an integrative overview of recent empirical and computational work on acquired dyslexia within the context of the primary systems framework as implemented in connectionist neuropsychological models. This view proposes that damage to general visual, phonological or semantic processing abilities are the root causes of different forms of acquired dyslexia. Recent case-series behavioural evidence concerning pure alexia, phonological dyslexia and surface dyslexia that supports this perspective is presented. Lesion simulations of these findings within connectionist models of reading demonstrate the viability of this approach. The commitment of such models to learnt representations allows them to capture key aspects of performance in each type of acquired dyslexia, particularly the associated non-reading deficits, the role of relearning and the influence of individual differences in the premorbid state of the reading system. Identification of these factors not only advances our understanding of acquired dyslexia and the mechanisms of normal reading but they are also relevant to the complex interactions underpinning developmental reading disorders. PMID:24324241

Primary acquired cold urticaria.

PubMed

Lee, Chyh-Woei; Sheffer, Albert L

2003-01-01

Primary acquired cold urticaria (ACU) is the most common type of cold urticaria characterized by rapid onset of pruritic hives, swelling, and possible severe systemic reactions including hypotension and shock after cold exposure. Primary ACU is diagnosed by history of such symptoms, a positive immediate cold-contact stimulation test, and negative laboratory evaluation for underlying systemic disorders. Clinicians should be aware that patients with ACU may be susceptible to life-threatening systemic reactions especially during aquatic activities and that proper patient education is extremely important. This article reviews the clinical presentation, pathogenesis, diagnosis, and management of primary ACU.

Role of Investigating Thrombophilic Disorders in Young Stroke

PubMed Central

Ng, Kay W. P.; Loh, Pei K.; Sharma, Vijay K.

2011-01-01

Our knowledge about various inherited and acquired causes of thrombophilic disorders has increased significantly during the past decade. Technology for various diagnostic tests for these rare disorders has matched the rapid advances in our understanding about the thrombophilic disorders. Inherited thrombophilic disorders predispose young patients for various venous or arterial thrombotic and thromboembolic episodes. Our understanding has also improved about various gene-gene and gene-environment interactions and their impact on the resultant heterogenous clinical manifestations. We describe various thrombophilic disorders, their diagnostic tests, pathogenic potential in isolation or with other concurrent inherited/acquired defects and possible therapeutic and prophylactic strategies. Better understanding, optimal diagnostic and screening protocols are expected to improve the diagnostic yield and help to reduce morbidity, disability, and mortality in relatively younger patients harbouring these inherited and acquired thrombophilic disorders. PMID:21331344

Acquired cutis laxa following urticarial vasculitis associated with IgA myeloma.

PubMed

Turner, Ryan B; Haynes, Harley A; Granter, Scott R; Miller, Danielle M

2009-06-01

Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized clinically by loosely hanging skin folds. There is often preceding cutaneous inflammatory eruption (ie, urticaria, eczema, erythema multiforme), and there is frequently internal organ involvement of the gastrointestinal, urogenital, pulmonary, and cardiovascular systems. Histologically, there are degenerative changes in the dermal elastic fibers. Of the few reports on this rare disorder, authors have speculated about an immune-mediated destruction of elastic fibers, and monoclonal gammopathies, such as multiple myeloma or heavy chain deposition disease, have a recognized association with CL. We report an unusual case of rapidly progressing acquired CL associated with leukocytoclastic vasculitis, IgA myeloma, and an immune complex-mediated glomerulonephritis. Light microscopy of the lax skin revealed complete absence of elastic fibers in areas of vasculitis.

Melasma update

PubMed Central

Sarkar, Rashmi; Arora, Pooja; Garg, Vijay Kumar; Sonthalia, Sidharth; Gokhale, Narendra

2014-01-01

Melasma is an acquired pigmentary disorder characterized by symmetrical hyperpigmented macules on the face. Its pathogenesis is complex and involves the interplay of various factors such as genetic predisposition, ultraviolet radiation, hormonal factors, and drugs. An insight into the pathogenesis is important to devise treatment modalities that accurately target the disease process and prevent relapses. Hydroquinone remains the gold standard of treatment though many newer drugs, especially plant extracts, have been developed in the last few years. In this article, we review the pathogenetic factors involved in melasma. We also describe the newer treatment options available and their efficacy. We carried out a PubMed search using the following terms “melasma, pathogenesis, etiology, diagnosis, treatment” and have included data of the last few years. PMID:25396123

[Waardenburg syndrome. A heterogenic disorder with variable penetrance].

PubMed

Apaydin, F; Bereketoglu, M; Turan, O; Hribar, K; Maassen, M M; Günhan, O; Zenner, H-P; Pfister, M

2004-06-01

Waardenburg syndrome (WS) is an autosomal dominant disorder characterised by pigmentary anomalies of the skin, hairs, eyes and various defects of other neural crest derived tissues. It accounts for over 2% of congenital hearing impairment. At least four types are recognized on the basis of clinical and genetic criteria. Based on a screening of congenitally hearing impaired children, 12 families with WS type II were detected. Of special interest was the phenotype of these families, in particular the reduced penetrance of hearing impairment within the families. In all cases a high variability of the disease phenotype was detected and the penetrance of the clinical traits varied accordingly. Therefore, it is not possible to predict the clinical phenotype even in a single family. Based on these studies, we plan to identify the pathogenetic cause of the disease in order to perform a detailed genotype/phenotype analysis.

Integrating eating disorder-specific risk factors into the acquired preparedness model of dysregulated eating: A moderated mediation analysis.

PubMed

Racine, Sarah E; Martin, Shelby J

2017-01-01

Tests of the acquired preparedness model demonstrate that the personality trait of negative urgency (i.e., the tendency to act impulsively when distressed) predicts the expectation that eating alleviates negative affect, and this eating expectancy subsequently predicts dysregulated eating. Although recent data indicate that eating disorder-specific risk factors (i.e., appearance pressures, thin-ideal internalization, body dissatisfaction, dietary restraint) strengthen negative urgency-dysregulated eating associations, it is unclear whether these risk factors impact associations directly or indirectly (i.e., through eating expectancies). The current study used latent moderated structural equation modeling to test moderated mediation hypotheses in a sample of 313 female college students. Eating expectancies mediated the association between negative urgency and dysregulated eating, and the indirect effect of negative urgency on dysregulated eating through eating expectancies was conditional on level of each eating disorder risk factor. Appearance pressures, thin-ideal internalization, body dissatisfaction, and dietary restraint significantly moderated the association between eating expectancies and dysregulated eating, while only dietary restraint moderated the direct effect of negative urgency on dysregulated eating. Findings suggest that the development of high-risk eating expectancies among individuals with negative urgency, combined with sociocultural pressures for thinness and their consequences, is associated with the greatest risk for dysregulated eating. Copyright © 2016 Elsevier Ltd. All rights reserved.

A Severe Case of Pigmentary Glaucoma in a Child With a Family History of Pigment Dispersion Syndrome.

PubMed

Aragno, Vittoria; Zeboulon, Pierre; Baudouin, Christophe; Labbé, Antoine

2016-08-01

To report a case of severe pigmentary glaucoma (PG) in a 13-year-old boy of a family affected by pigment dispersion syndrome (PDS). A 13-year-old child was referred to our hospital for severe bilateral glaucoma. A complete ophthalmologic evaluation including refraction, intraocular pressure, central corneal thickness, slit-lamp biomicroscopy, gonioscopy, fundus examination, and ultrasound biomicroscopy was performed. Family members were also examined and a family pedigree was obtained. Ophthalmologic examination revealed a severe bilateral PG with Krukenberg spindle and a widely open heavily pigmented iridocorneal angle. Ultrasound biomicroscopy showed a deep anterior chamber with pronounced iris concavity in both eyes. Within his family, his 15-year-old sister and 7-year-old brother were both affected by PDS diagnosed on gonioscopy findings. We report for the first time a severe case of pediatric PG with a family history of PDS. This case demonstrates that accurate screening is necessary in cases of familial PDS and PG, even in the pediatric population.

Dermatopathia pigmentosa reticularis.

PubMed

Brar, Balvinder K; Mehta, Vivek; Kubba, Asha

2007-01-01

Dermatopathia pigmentosa reticularis is a rare inherited pigmentary disorder of the skin characterized by generalized reticulate hyperpigmentation, nonscarring alopecia and onychodystrophy. The reticulate pigmentation occurs at birth or during early childhood. We hereby report a 12-year-old Indian patient with this disorder.

Treatment of flat and elevated pigmented disorders with a 755-nm alexandrite picosecond laser: clinical and histological evaluation.

PubMed

Alegre-Sanchez, Adrian; Jiménez-Gómez, Natalia; Moreno-Arrones, Óscar M; Fonda-Pascual, Pablo; Pérez-García, Bibiana; Jaén-Olasolo, Pedro; Boixeda, Pablo

2018-02-09

The novel picosecond lasers, initially developed for faster tattoo removal, have also shown great efficacy in endogenous pigmentary disorders. To describe the efficacy and safety profile of an alexandrite (755-nm) picosecond laser in a wide range of pigmented flat and elevated cutaneous lesions. A retrospective study was performed in which we collected all the clinical images of patients treated with the 755-nm alexandrite picosecond laser for 12 months (November 2016-November 2017). Clinical features were obtained from their medical charts. Patients treated for tattoo removal were excluded. All the images were analyzed by three blind physicians attending to a visual analogue scale (VAS) from 0 to 5 (0, no change; 1, 1-24% clearance; 2, 25-49% clearance; 3, 50-74% clearance; 4, 75-99% clearance; 5, complete clearance). Patient satisfaction was obtained from a subjective survey including four items: very satisfied, satisfied, non-satisfied, and totally dissatisfied. Thirty-seven patients were included (12 males; 25 females). The mean age of the study was 42.35 years. Twenty-five patients (68%) were treated for different pigmented flat disorders such as solar and mucosal lentigines (5), stasis dermatitis (4), or nevus of Ota (4), among other diagnoses. Twelve patients (32%) were treated for epidermal elevated lesions such as warts (5), epidermal nevi (2), and seborrheic keratosis (3), among other elevated lesions. Mean number of laser treatment was 3.02 sessions while mean follow-up after last laser treatment was 4.02 months. Mean VAS score of the three observers was 3.44 (61% of clearance) for pigmentary flat disorders and 3.60 (67%) for elevated lesions. Adverse effects reported were mild blistering in the first 2-5 days following laser treatment in some of the patients. Overall satisfaction among the patients included was high. The novel 755-nm picosecond alexandrite laser is effective not only for the resolution of pigmented flat lesions of different nature

Comparison of a therapeutic-only versus prophylactic platelet transfusion policy for people with congenital or acquired bone marrow failure disorders.

PubMed

Malouf, Reem; Ashraf, Asma; Hadjinicolaou, Andreas V; Doree, Carolyn; Hopewell, Sally; Estcourt, Lise J

2018-05-14

Bone marrow disorders encompass a group of diseases characterised by reduced production of red cells, white cells, and platelets, or defects in their function, or both. The most common bone marrow disorder is myelodysplastic syndrome. Thrombocytopenia, a low platelet count, commonly occurs in people with bone marrow failure. Platetet transfusions are routinely used in people with thrombocytopenia secondary to bone marrow failure disorders to treat or prevent bleeding. Myelodysplastic syndrome is currently the most common reason for receiving a platelet transfusion in some Western countries. To determine whether a therapeutic-only platelet transfusion policy (transfusion given when patient is bleeding) is as effective and safe as a prophylactic platelet transfusion policy (transfusion given to prevent bleeding according to a prespecified platelet threshold) in people with congenital or acquired bone marrow failure disorders. We searched for randomised controlled trials (RCTs), non-RCTs, and controlled before-after studies (CBAs) in the Cochrane Central Register of Controlled Trials (CENTRAL) (the Cochrane Library 2017, Issue 9), Ovid MEDLINE (from 1946), Ovid Embase (from 1974), PubMed (e-publications only), the Transfusion Evidence Library (from 1950), and ongoing trial databases to 12 October 2017. We included RCTs, non-RCTs, and CBAs that involved the transfusion of platelet concentrates (prepared either from individual units of whole blood or by apheresis any dose, frequency, or transfusion trigger) and given to treat or prevent bleeding among people with congenital or acquired bone marrow failure disorders.We excluded uncontrolled studies, cross-sectional studies, and case-control studies. We excluded cluster-RCTs, non-randomised cluster trials, and CBAs with fewer than two intervention sites and two control sites due to the risk of confounding. We included all people with long-term bone marrow failure disorders that require platelet transfusions, including

The pattern of skin diseases in the Qassim region of Saudi Arabia: What the primary care physician should know.

PubMed

Al Shobaili, Hani A

2010-01-01

Epidemiological studies to determine the burden of skin diseases are important for proper health care planning. The purpose of this study was to find the pattern of skin diseases in our patients attending university-affiliated dermatologic clinics in the Qassim region. We conducted a prospective study of all Saudi patients attending the Qassim University Medical College-affiliated dermatology clinics of the Ministry of Health for a period of 12 months from 1 March 2008 to 28 February 2009. The study included 3051 patients comprising 1786 (58.5%) males and 1265 (41.5%) females. Males outnumbered females (P<.05) (male-to-female ratio, 1.4:1). The mean age (standard error of the mean) of the patients was 25.3 (0.27) years. About 71% of the patients were between 5 and 34 years of age. The top five skin diseases were eczema/ dermatitis (19.5%), viral infections (16.6%), pilosebaceous disorders (14.4%), pigmentary lesions (11.2%) and hair disorders (7.6%). The major disorder in males was viral skin infections (20.0%), while eczema/dermatitis (20.7%) constituted the most prevalent skin disease in females. Seasonal variations were recorded in cases of pigmentary lesions, papulosquamous disorders and protozoal infections. Infectious skin diseases, eczema/dermatitis, pilosebaceous disorders, pigmentary lesions and hair disorders ranked as the top five skin diseases. Appropriate training programs for diagnosing and managing common skin diseases should be initiated for primary health care physicians and other general practitioners so as to decrease referrals to dermatology clinics.

Acquired high titre factor VIII inhibitor with underlying polyarteritis nodosa.

PubMed

Snowden, J A; Hutchings, M; Spearing, R; Patton, W N

1997-05-01

We here present the case of a 70-year-old woman referred to our unit for investigation of bleeding. Investigations confirmed a high titre acquired Factor VIII inhibitor. In association there was relapse of systemic illness associated with anti-neutrophil cytoplasmic antibodies (atypical pattern) for which she had been treated five years previously. Immunosuppression was attempted, but it failed to have an impact both on the inhibitor titre and on the underlying disorder. The patient died from multi-organ failure and massive chest hemorrhage. Post-mortem showed necrotizing vasculitis of medium sized vessels at several sites, including the kidney, consistent with a diagnosis of polyarteritis nodosa. Although it is well recognised that Factor VIII inhibitors are found in conjunction with autoimmune disorders, this case is significant in that it is the first associated with histologically proven polyarteritis nodosa type vasculitis. The case illustrates the difficulties in the investigation and management of patients with acquired high titre Factor VIII inhibitors.

Rethinking responsibility in offenders with acquired paedophilia: punishment or treatment?

PubMed

Gilbert, Frédéric; Focquaert, Farah

2015-01-01

This article reviews the current neurobiological literature on the aetiology of developmental and acquired paedophilia and examines what the consequences could be in terms of responsibility and treatment for the latter. Addressing the question of responsibility and punishment of offenders with acquired paedophilia from a neurobiological perspective is controversial. Consequently it is essential to avoid hasty conclusions based strictly on neurobiological abnormality justifications. This study establishes a distinction between developmental and acquired paedophilia. The article investigates whether offenders who fulfil the diagnosis of acquired paedophilia should be held fully responsible, particularly in cases where the offender's conduct appears to result from volitionally controlled behaviour that is seemingly incompatible with a neurological cause. Moreover, the article explores how responsibility can be compromised when offenders with acquired paedophilia have (partially) preserved moral knowledge despite their sexual disorder. The article then examines the option of offering mandatory treatment as an alternative to imprisonment for offenders with acquired paedophilia. Furthermore, the article addresses the ethical issues related to offering any form of quasi-coercive treatment as a condition of release. This study concludes that decisions to fully or partially excuse an individual who fulfil the diagnosis of acquired paedophilia should take all relevant information into account, both neurobiological and other environmental evidence, and should proceed on a careful case by case analysis before sentencing or offering treatment. Copyright © 2015 Elsevier Ltd. All rights reserved.

Longwing (Heliconius) butterflies combine a restricted set of pigmentary and structural coloration mechanisms.

PubMed

Wilts, Bodo D; Vey, Aidan J M; Briscoe, Adriana D; Stavenga, Doekele G

2017-11-21

Longwing butterflies, Heliconius sp., also called heliconians, are striking examples of diversity and mimicry in butterflies. Heliconians feature strongly colored patterns on their wings, arising from wing scales colored by pigments and/or nanostructures, which serve as an aposematic signal. Here, we investigate the coloration mechanisms among several species of Heliconius by applying scanning electron microscopy, (micro)spectrophotometry, and imaging scatterometry. We identify seven kinds of colored scales within Heliconius whose coloration is derived from pigments, nanostructures or both. In yellow-, orange- and red-colored wing patches, both cover and ground scales contain wavelength-selective absorbing pigments, 3-OH-kynurenine, xanthommatin and/or dihydroxanthommatin. In blue wing patches, the cover scales are blue either due to interference of light in the thin-film lower lamina (e.g., H. doris) or in the multilayered lamellae in the scale ridges (so-called ridge reflectors, e.g., H. sara and H. erato); the underlying ground scales are black. In the white wing patches, both cover and ground scales are blue due to their thin-film lower lamina, but because they are stacked upon each other and at the wing substrate, a faint bluish to white color results. Lastly, green wing patches (H. doris) have cover scales with blue-reflecting thin films and short-wavelength absorbing 3-OH-kynurenine, together causing a green color. The pigmentary and structural traits are discussed in relation to their phylogenetic distribution and the evolution of vision in this highly interesting clade of butterflies.

The Acquired Preparedness Model of Risk for Bulimic Symptom Development

PubMed Central

Combs, Jessica L.; Smith, Gregory T.; Flory, Kate; Simmons, Jean R.; Hill, Kelly K.

2010-01-01

The authors applied person-environment transaction theory to test the acquired preparedness model of eating disorder risk. The model holds that (a) middle school girls high in the trait of ineffectiveness are differentially prepared to acquire high risk expectancies for reinforcement from dieting/thinness; (b) those expectancies predict subsequent binge eating and purging; and (c) the influence of the disposition of ineffectiveness on binge eating and purging is mediated by dieting/thinness expectancies. In a three-wave longitudinal study of 394 middle school girls, they found support for the model. Seventh grade girls’ scores on ineffectiveness predicted their subsequent endorsement of high risk dieting/thinness expectancies, which in turn predicted subsequent increases in binge eating and purging. Statistical tests of mediation supported the hypothesis that the prospective relation between ineffectiveness and binge eating was mediated by dieting/thinness expectancies, as was the prospective relation between ineffectiveness and purging. This application of a basic science theory to eating disorder risk appears fruitful, and the findings suggest the importance of early interventions that address both disposition and learning. PMID:20853933

Ultrasound of Inherited vs. Acquired Demyelinating Polyneuropathies

PubMed Central

Zaidman, Craig M.; Harms, Matthew B.; Pestronk, Alan

2013-01-01

Introduction We compared features of nerve enlargement in inherited and acquired demyelinating neuropathies using ultrasound. Methods We measured median and ulnar nerve cross-sectional areas in proximal and distal regions in 128 children and adults with inherited (Charcot-Marie Tooth-1 (CMT-1) (n=35)) and acquired (Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) (n=55), Guillaine-Barre Syndrome (GBS) (n=21) and Multifocal Motor Neuropathy (MMN) (n=17)) demyelinating neuropathies. We classified nerve enlargement by degree and number of regions affected. We defined patterns of nerve enlargement as: none- no enlargement; mild-nerves enlarged but never more than twice normal; regional- nerves normal at at least one region and enlarged more than twice normal at atleast one region; diffuse- nerves enlarged at all four regions with atleast one region more than twice normal size. Results Nerve enlargement was commonly diffuse (89%) and generally more than twice normal size in CMT-1, but not (p<0.001) in acquired disorders which mostly had either no, mild or regional nerve enlargement (CIDP (64%), GBS (95%), and MMN (100%)). In CIDP, subjects treated within three months of disease onset had less nerve enlargement than those treated later. Discussion Ultrasound identified patterns of diffuse nerve enlargement can be used to screen patients suspected of having CMT-1. Normal, mildly, or regionally enlarged nerves in demyelinating polyneuropathy suggests an acquired etiology. Early treatment in CIDP may impede nerve enlargement. PMID:24101129

Interventions for treating acute bleeding episodes in people with acquired hemophilia A.

PubMed

Zeng, Yan; Zhou, Ruiqing; Duan, Xin; Long, Dan; Yang, Songtao

2014-08-28

Acquired hemophilia A is a rare bleeding disorder caused by autoantibodies to coagulation factor VIII (FVIII). In most cases, bleeding episodes are spontaneous and severe at presentation. The optimal hemostatic therapy is controversial. To determine the efficacy of hemostatic therapies for acute bleeds in people with acquired hemophilia A; and to compare different forms of therapy for these bleeds. We searched the Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library 2014, Issue 4) and MEDLINE (Ovid) (1948 to 30 April 2014). We searched the conference proceedings of the: American Society of Hematology; European Hematology Association; International Society on Thrombosis and Haemostasis (ISTH); and the European Association for Haemophilia and Allied Disorders (EAHAD) (from 2000 to 30 April 2014). In addition to this we searched clinical trials registers. All randomised controlled trials and quasi-randomised trials of hemostatic therapies for people with acquired hemophilia A, with no restrictions on gender, age or ethnicity. No trials matching the selection criteria were eligible for inclusion. No trials matching the selection criteria were eligible for inclusion. No randomised clinical trials of hemostatic therapies for acquired hemophilia A were found. Thus, we are not able to draw any conclusions or make any recommendations on the optimal hemostatic therapies for acquired hemophilia A based on the highest quality of evidence. GIven that carrying out randomized controlled trials in this field is a complex task, the authors suggest that, while planning randomised controlled trials in which patients can be enrolled, clinicians treating the disease continue to base their choices on alternative, lower quality sources of evidence, which hopefully, in the future, will also be appraised and incorporated in a Cochrane Review.

[Ejaculatory disorders except premature ejaculation, orgasmic disorders].

PubMed

Rigot, J-M; Marcelli, F; Giuliano, F

2013-07-01

Disorders of ejaculation and orgasm apart from premature ejaculation are pretty uncommon. Medical literature was reviewed and combined with expert opinion of the authors. The semiology of these disorders is essential: aspermia, hypospermia, retrograde ejaculation, delayed or absent ejaculation with or without orgasm. Whether this is a lifelong or acquired condition, it is essential to assess the side-effects of medications i.e. psychotropic drugs, including antidepressant, neuroleptics, tramadol, alphablockers: tamsulosin and silodosin must always be surveyed. The management is often difficult, especially with a parenthood perspective. The management of lifelong disorders must rely on psychosexual therapies. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Contact leukomelanosis induced by the leaves of Piper betle L. (Piperaceae): a clinical and histopathologic survey.

PubMed

Liao, Y L; Chiang, Y C; Tsai, T F; Lee, R F; Chan, Y C; Hsiao, C H

1999-04-01

In April 1997, an unusual pigmentary disorder was noticed by dermatologists in Taiwan. All patients had a history of using facial dressings with steamed leaves of Piper betle L. (Piperaceae). Our purpose was to clarify the evolution and the origin of this unique leukomelanosis. Fifteen patients with an unusual pigmentary disorder, who visited our clinic in September and October 1997, were asked to complete a questionnaire designed to elicit the history related to the disorder. Eight of these 15 patients underwent skin biopsies: 6 on the mottled hyperpigmented area (group A) and 2 on the hypopigmented area (group B). All 8 specimens were prepared with hematoxylin-eosin, Masson-Fontana, and S-100 stains. The results of the questionnaire revealed that these patients had all experienced a temporary erythematous reaction in the first few days of the use of the facial dressing, and 9 of them also complained of an accompanying stinging sensation. A bleaching effect became noticeable approximately 1 week to 1 month later. Eight patients reported that the hyperpigmentation and confetti-like hypopigmentation occurred after overexposure to the sun. In both groups, histopathologic examination revealed some melanophages in the dermis. Masson-Fontana staining of specimens from group A showed local interspersed depigmentation and hyperpigmentation in the basal epidermis and pigmentary incontinence in the dermis. This picture was different from the homogeneous depigmentation within basal epidermis in specimens from group B. In both groups, S-100 staining was negative for melanocytes in the depigmented area. The clinical course and histopathologic findings suggest that the evolution of this pigmentary disorder can be divided into 3 stages. The first stage is the immediate bleaching stage, when an irritant reaction is usually conspicuous. The second stage consists of prominent hyperpigmentation visible both grossly and microscopically. The final stage is characterized by confetti

Cross-sectional imaging of congenital and acquired abnormalities of the portal venous system

PubMed Central

Özbayrak, Mustafa; Tatlı, Servet

2016-01-01

Knowing the normal anatomy, variations, congenital and acquired pathologies of the portal venous system are important, especially when planning liver surgery and percutaneous interventional procedures. The portal venous system pathologies can be congenital such as agenesis of portal vein (PV) or can be involved by other hepatic disorders such as cirrhosis and malignancies. In this article, we present normal anatomy, variations, and acquired pathologies involving the portal venous system as seen on computed tomography (CT) and magnetic resonance imaging (MRI). PMID:27731302

Cholestasis caused by panhypopituitarism and acquired cytomegalovirus infection in a 2-month-old male infant

PubMed Central

Chan, U; Chan, Wai-Tao; Ting, Wei-Hsin; Ho, Che-Sheng; Liu, Hsi-Che; Lee, Hung-Chang

2017-01-01

Abstract Rationale: Septo-optic dysplasia (SOD) is a rare congenital disorder that may cause jaundice in infants. However, it is usually prone to neglect and misdiagnosis in infants with cholestasis because endocrine disorder such as panhypopituitarism is rare in the cause of infantile cholestasis. We report a case of SOD concurrent with acquired cytomegalovirus (CMV) infection, who presented with prolonged jaundice as the first clinical sign. Patient concerns: The patient was a 2-month-old male infant who presented with cholestasis, combined with fever and panhypopituitarism. Diagnoses: He was diagnosed with SOD and acquired CMV infection. Interventions: He was treated with hormone replacement therapy and ganciclovir. Outcomes: After correction of the pituitary hormone deficiency and ganciclovir treatment, significant improvements of cholestasis, retinal lesions, and growth rate were seen in our patient. Lessons: Although an endocrine disorder such as panhypopituitarism is rare in the cause of neonatal or infantile cholestasis, we must keep this reason in mind. PMID:28445302

Microbe-Induced Inflammatory Signals Triggering Acquired Bone Marrow Failure Syndromes.

PubMed

Espinoza, J Luis; Kotecha, Ritesh; Nakao, Shinji

2017-01-01

Acquired bone marrow failure syndromes encompass a unique set of disorders characterized by a reduction in the effective production of mature cells by the bone marrow (BM). In the majority of cases, these syndromes are the result of the immune-mediated destruction of hematopoietic stem cells or their progenitors at various stages of differentiation. Microbial infection has also been associated with hematopoietic stem cell injury and may lead to associated transient or persistent BM failure, and recent evidence has highlighted the potential impact of commensal microbes and their metabolites on hematopoiesis. We summarize the interactions between microorganisms and the host immune system and emphasize how they may impact the development of acquired BM failure.

Microbe-Induced Inflammatory Signals Triggering Acquired Bone Marrow Failure Syndromes

PubMed Central

Espinoza, J. Luis; Kotecha, Ritesh; Nakao, Shinji

2017-01-01

Acquired bone marrow failure syndromes encompass a unique set of disorders characterized by a reduction in the effective production of mature cells by the bone marrow (BM). In the majority of cases, these syndromes are the result of the immune-mediated destruction of hematopoietic stem cells or their progenitors at various stages of differentiation. Microbial infection has also been associated with hematopoietic stem cell injury and may lead to associated transient or persistent BM failure, and recent evidence has highlighted the potential impact of commensal microbes and their metabolites on hematopoiesis. We summarize the interactions between microorganisms and the host immune system and emphasize how they may impact the development of acquired BM failure. PMID:28286502

Acquired Aplastic Anemia: What Have We Learned and What Is in the Horizon?

PubMed

Savaşan, Süreyya

2018-06-01

Acquired aplastic anemia (aAA) characterized by peripheral pancytopenia and bone marrow aplasia is a rare and serious disorder. Differential diagnosis includes constitutional bone marrow failure syndromes and myelodysplastic disorders. Autoimmune reaction to altered hematopoietic stem cells highlights the underlying mechanism. Matched related donor allogeneic hematopoietic stem cell transplantation is the ideal pediatric treatment; alternative approaches include immunosuppressive therapy and use of eltrombopag. Progression to clonal disorders can occur. Recently, alternative donor hematopoietic stem cell transplantation outcomes have significantly improved. Despite advances, aAA continues to be a challenge for hematologists. Copyright © 2018 Elsevier Inc. All rights reserved.

Effects of porous films on the light reflectivity of pigmentary titanium dioxide particles

NASA Astrophysics Data System (ADS)

Liang, Yong; Qiao, Bing; Wang, Tig-Jie; Gao, Han; Yu, Keyi

2016-11-01

The light reflectivity of the film-coated titanium dioxide particles (TiO2) as a function of the film refractive index was derived and calculated using a plane film model. For the refractive index in the range of 1.00-2.15, the lower the film refractive index is, the higher is the light reflectivity of the film. It is inferred that the lower apparent refractive index of the porous film resulted in the higher reflectivity of light, i.e., the higher hiding power of the titanium dioxide particles. A dense film coating on TiO2 particles with different types of oxides, i.e., SiO2, Al2O3, MgO, ZnO, ZrO2, TiO2, corresponding to different refractive indices of the film from 1.46 to 2.50, was achieved, and the effects of refractive index on the hiding power from the model prediction were confirmed. Porous film coating of TiO2 particles was achieved by adding the organic template agent triethanolamine (TEA). The hiding power of the coated TiO2 particles was increased from 88.3 to 90.8 by adding the TEA template to the film coating (5-20 wt%). In other words, the amount of titanium dioxide needed was reduced by approximately 10% without a change in the hiding power. It is concluded that the film structure coated on TiO2 particle surface affects the light reflectivity significantly, namely, the porous film exhibits excellent performance for pigmentary titanium dioxide particles with high hiding power.

Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder

PubMed Central

Shanker, Vinay; Gupta, Mudita

2013-01-01

Dermatopathia pigmentosa reticularis is a rare ectodermal dysplasia with a triad of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. We report a case of a 21 year old woman who had generalized reticulate pigmentation, diffuse noncicatricial alopecia and onychodystrophy of finger and toe nails. Along with this triad she had palmoplantar keratoderma and poorly developed dermatoglyphics. There was no evidence of involvement of other ectodermally derived organ. PMID:23440032

Common sequence variants in the LOXL1 gene in pigment dispersion syndrome and pigmentary glaucoma.

PubMed

Giardina, Emiliano; Oddone, Francesco; Lepre, Tiziana; Centofanti, Marco; Peconi, Cristina; Tanga, Lucia; Quaranta, Luciano; Frezzotti, Paolo; Novelli, Giuseppe; Manni, Gianluca

2014-04-16

Single nucleotide polymorphisms (SNPs) within the LOXL1 gene are associated with pseudoesfoliation syndrome and pseudoesfoliation glaucoma. The aim of our study is to investigate a potential involvement of LOXL1 gene in the pathogenesis of pigment dispersion syndrome (PDS) and pigmentary glaucoma (PG). A cohort of Caucasian origin of 84 unrelated and clinically well-characterised patients with PDS/PG and 200 control subjects were included in the study. Genomic DNA from whole blood was extracted and the coding and regulatory regions of LOXL1 gene were risequenced in both patients and controls to identify unknown sequence variations. Genotype and haplotype analysis were performed with UNPHASED software. The expression levels of LOXL1 were determined on c-DNA from peripheral blood lymphocytes by quantitative real-time RT-PCR. A significant allele association was detected for SNP rs2304722 within the fifth intron of LOXL1 (Odds ratio (OR = 2.43, p-value = 3,05e-2). Haplotype analysis revealed the existence of risk and protective haplotypes associated with PG-PDS (OR = 3.35; p-value = 1.00e-5 and OR = 3.35; p-value = 1.00e-4, respectively). Expression analysis suggests that associated haplotypes can regulate the expression level LOXL1. Haplotypes of LOXL1 are associated with PG-PDS independently from rs1048661, leading to a differential expression of the transcript.

Pigmentary Maculopathy Associated with Chronic Exposure to Pentosan Polysulfate Sodium.

PubMed

Pearce, William A; Chen, Rui; Jain, Nieraj

2018-05-22

To describe the clinical features of a unique pigmentary maculopathy noted in the setting of chronic exposure to pentosan polysulfate sodium (PPS), a therapy for interstitial cystitis (IC). Retrospective case series. Six adult patients evaluated by a single clinician between May 1, 2015, and October 1, 2017. Patients were identified by query of the electronic medical record system. Local records were reviewed, including results of the clinical examination, retinal imaging, and visual function assessment with static perimetry and electroretinography. Molecular testing assessed for known macular dystrophy and mitochondrial cytopathy genotypes. Mean best-corrected visual acuity (BCVA; in logarithm of the minimum angle of resolution units), median cumulative PPS exposure, subjective nature of the associated visual disturbance, qualitative examination and imaging features, and molecular testing results. The median age at presentation was 60 years (range, 37-62 years). All patients received PPS for a diagnosis of IC, with a median cumulative exposure of 2263 g (range, 1314-2774 g), over a median duration of exposure of 186 months (range, 144-240 months). Most patients (4 of 6) reported difficulty reading as the most bothersome symptom. Mean BCVA was 0.1±0.18 logarithm of the minimum angle of resolution. On fundus examination, nearly all eyes showed subtle paracentral hyperpigmentation at the level of the retinal pigment epithelium (RPE) with a surrounding array of vitelliform-like deposits. Four eyes of 2 patients showed paracentral RPE atrophy, and no eyes demonstrated choroidal neovascularization. Multimodal retinal imaging demonstrated abnormality of the RPE generally contained in a well-delineated area in the posterior pole. None of the 4 patients who underwent molecular testing of nuclear DNA returned a pathogenic mutation. Additionally, all 6 patients showed negative results for pathogenic variants in the mitochondrial gene MTTL1. We describe a novel and possibly

Management of Acquired Atresia of the External Auditory Canal.

PubMed

Bajin, Münir Demir; Yılmaz, Taner; Günaydın, Rıza Önder; Kuşçu, Oğuz; Sözen, Tevfik; Jafarov, Shamkal

2015-08-01

The aim was to evaluate surgical techniques and their relationship to postoperative success rate and hearing outcomes in acquired atresia of the external auditory canal. In this article, 24 patients with acquired atresia of the external auditory canal were retrospectively evaluated regarding their canal status, hearing, and postoperative success. Acquired stenosis occurs more commonly in males with a male: female ratio of 2-3:1; it seems to be a disorder affecting young adults. Previous ear surgery (13 patients, 54.2%) and external ear trauma (11 patients, 45.8%) were the main etiological factors of acquired ear canal stenosis. Mastoidectomy (12/13) and traffic accidents (8/11) comprise the majority of these etiological factors. Endaural incision is performed in 79.2% and postauricular incision for 20.8% of cases during the operation. As types of surgical approach, transcanal (70.8%), transmastoid (20.8%), and combined (8.4%) approaches are chosen. The atretic plate is generally located at the bony-cartilaginous junction (37.5%) and in the cartilaginous canal (33.3%); the bony canal is involved in a few cases only. Preserved healthy canal skin, split- or full-thickness skin grafts, or pre- or postauricular skin flaps are used to line the ear canal, but preserved healthy canal skin is preferred. The results of surgery are generally satisfactory, and complications are few if surgical principles are followed.

Recombinant factor VIIa (eptacog alfa): a review of its use in congenital hemophilia with inhibitors, acquired hemophilia, and other congenital bleeding disorders.

PubMed

Croom, Katherine F; McCormack, Paul L

2008-01-01

Recombinant factor VIIa (NovoSeven; also known as recombinant activated factor VII or eptacog alfa) is structurally similar to human plasma-derived coagulation factor VIIa, but is manufactured using DNA biotechnology. Recombinant factor VIIa interacts with thrombin-activated platelets to produce a thrombin burst leading to accelerated fibrin clot formation localized to the site of vascular injury. It is approved in many countries for use as an intravenous hemostatic agent in patients with congenital hemophilia with inhibitors, and also for acquired hemophilia, factor VII deficiency, and Glanzmann thrombasthenia in some countries. Studies have shown it to be effective and generally well tolerated when used intravenously to treat bleeding episodes or provide hemostatic cover during surgery in patients with congenital hemophilia with inhibitors, acquired hemophilia, factor VII deficiency or Glanzmann thrombasthenia. Based on available data, its efficacy in terms of patient-assessed response may be similar to that of activated prothrombin complex concentrate (aPCC), but treatment with a single 270 microg/kg dose of recombinant factor VIIa might reduce the need for rescue therapy compared with aPCC. Recombinant factor VIIa is not immunogenic in patients with hemophilia, does not produce an anamnestic response in hemophilia patients with inhibitors, and has very low thrombogenicity. It is recommended in guidelines as the treatment of choice for bleeds in patients with hemophilia B with high-responding inhibitors and for patients with factor VII deficiency, and is also a first-line therapeutic option for high-responder hemophilia A patients with inhibitors and those with acquired hemophilia. Cost data from pharmacoeconomic analyses support its use in hemophilia patients with inhibitors. Thus, recombinant factor VIIa is a valuable treatment option for patients with these rare, but potentially serious, bleeding disorders.

Common sequence variants in the LOXL1 gene in pigment dispersion syndrome and pigmentary glaucoma

PubMed Central

2014-01-01

Background Single nucleotide polymorphisms (SNPs) within the LOXL1 gene are associated with pseudoesfoliation syndrome and pseudoesfoliation glaucoma. The aim of our study is to investigate a potential involvement of LOXL1 gene in the pathogenesis of pigment dispersion syndrome (PDS) and pigmentary glaucoma (PG). Methods A cohort of Caucasian origin of 84 unrelated and clinically well-characterised patients with PDS/PG and 200 control subjects were included in the study. Genomic DNA from whole blood was extracted and the coding and regulatory regions of LOXL1 gene were risequenced in both patients and controls to identify unknown sequence variations. Genotype and haplotype analysis were performed with UNPHASED software. The expression levels of LOXL1 were determined on c-DNA from peripheral blood lymphocytes by quantitative real-time RT-PCR. Results A significant allele association was detected for SNP rs2304722 within the fifth intron of LOXL1 (Odds ratio (OR = 2.43, p-value = 3,05e-2). Haplotype analysis revealed the existence of risk and protective haplotypes associated with PG-PDS (OR = 3.35; p-value = 1.00e-5 and OR = 3.35; p-value = 1.00e-4, respectively). Expression analysis suggests that associated haplotypes can regulate the expression level LOXL1. Conclusions Haplotypes of LOXL1 are associated with PG-PDS independently from rs1048661, leading to a differential expression of the transcript. PMID:24739284

Basic Reading Skills in High-Functioning Swedish Children with Autism Spectrum Disorders or Attention Disorder

ERIC Educational Resources Information Center

Asberg, Jakob; Dahlgren, SvenOlof; Dahlgren Sandberg, Annika

2008-01-01

High-functioning children with autism spectrum disorders (ASD) have been reported to have an early success in reading. Children with attention disorders such as DAMP or ADHD, on the other hand, often struggle acquiring reading skills. The primary aim of the study was two-fold: (a) to compare reading performance of children with ASD, DAMP and…

Associative Learning Through Acquired Salience.

PubMed

Treviño, Mario

2015-01-01

Most associative learning studies describe the salience of stimuli as a fixed learning-rate parameter. Presumptive saliency signals, however, have also been linked to motivational and attentional processes. An interesting possibility, therefore, is that discriminative stimuli could also acquire salience as they become powerful predictors of outcomes. To explore this idea, we first characterized and extracted the learning curves from mice trained with discriminative images offering varying degrees of structural similarity. Next, we fitted a linear model of associative learning coupled to a series of mathematical representations for stimulus salience. We found that the best prediction, from the set of tested models, was one in which the visual salience depended on stimulus similarity and a non-linear function of the associative strength. Therefore, these analytic results support the idea that the net salience of a stimulus depends both on the items' effective salience and the motivational state of the subject that learns about it. Moreover, this dual salience model can explain why learning about a stimulus not only depends on the effective salience during acquisition but also on the specific learning trajectory that was used to reach this state. Our mathematical description could be instrumental for understanding aberrant salience acquisition under stressful situations and in neuropsychiatric disorders like schizophrenia, obsessive-compulsive disorder, and addiction.

[Pigment dispersion syndrome and pigmentary glaucoma. Morphometric analysis of the anterior chamber segment with SL-OCT].

PubMed

Birner, B; Tourtas, T; Wessel, J M; Jünemann, A G; Mardin, C Y; Kruse, F E; Laemmer, R

2014-01-01

The purpose of this study was to analyze if anterior chamber parameters are risk factors for the development of pigment dispersion syndrome (PDS) and/or for the conversion to pigmentary glaucoma (PG). This study included a total of 63 eyes from 35 patients with PDS and PG and 65 eyes from 49 unaffected volunteers as the control group. The following parameters were measured by slit lamp optical coherence tomography (SL-OCT): anterior chamber volume (ACV) and depth (ACD), angle opening distance (AOD) and the trabecular iris space area (TISA) at 500 µm and 750 μm from the scleral spur. Comparisons between the following groups were performed: between the PDS/PG and the control group, between PDS and PG and between male and female patients. The results of ACV, ACD, AOD and TISA were significantly higher in PDS/PG patients when compared to the control group. There were no significant differences between PDS and PG. The gender-specific comparison also showed no significant differences. Significantly higher anterior chamber parameters are a possible risk factor for development of PDS; however, a higher risk of conversion to PG does not seem to correlate with increased anterior chamber parameters. The parameters of the anterior chamber are apparently not associated with the male predominance of PDS and PG.

Morphological Alterations Within the Peripheral Fixation of the Iris Dilator Muscle in Eyes With Pigmentary Glaucoma

PubMed Central

Flügel-Koch, Cassandra M.; Tektas, Ozan Y.; Kaufman, Paul L.; Paulsen, Friedrich P.; Lütjen-Drecoll, Elke

2014-01-01

Purpose. To analyze the peripheral fixation of the iris dilator muscle in normal eyes and in eyes with pigmentary glaucoma (PG). Methods. Using 63 control eyes (age 18 months–99 years), the peripheral iris dilator was investigated by light microscopy, immunohistochemistry, and electron microscopy. Development was studied using 18 differently aged fetal eyes stained immunohistochemically against α-smooth muscle (SM) actin. The peripheral iris dilator muscle in PG was analyzed using semithin and ultrathin sections of six glutaraldehyde-fixed eyes from three donors aged 38, 62, and 74 years. Results. In normal eyes, the peripheral end of the iris dilator muscle is arranged in a sphincter-like manner. Arcade-shaped tendinous connections associated with myofibroblasts (iridial strands) anchor the iris dilator within the elastic–fibromuscular ciliary meshwork that also serves as fixation area for the elastic tendons of the inner ciliary muscle portions. The iridial strands are innervated and can adapt their length during accommodation. The PG eyes show incomplete circular bundles and iridial strands that are mainly anchored to the iris stroma and the flexible uveal parts of the trabecular meshwork. Conclusions. The normal anchorage of the peripheral iris dilator and its presumably neuronally regulated length adaptation stabilize the peripheral iris during accommodation. Insufficient fixation in PG could promote posterior bowing of the iris with rubbing against the zonular fibers and pigment liberation from the iris pigmented epithelium. PMID:24938519

Cholestasis caused by panhypopituitarism and acquired cytomegalovirus infection in a 2-month-old male infant: A case report.

PubMed

Chan, U; Chan, Wai-Tao; Ting, Wei-Hsin; Ho, Che-Sheng; Liu, Hsi-Che; Lee, Hung-Chang

2017-04-01

Septo-optic dysplasia (SOD) is a rare congenital disorder that may cause jaundice in infants. However, it is usually prone to neglect and misdiagnosis in infants with cholestasis because endocrine disorder such as panhypopituitarism is rare in the cause of infantile cholestasis. We report a case of SOD concurrent with acquired cytomegalovirus (CMV) infection, who presented with prolonged jaundice as the first clinical sign. The patient was a 2-month-old male infant who presented with cholestasis, combined with fever and panhypopituitarism. He was diagnosed with SOD and acquired CMV infection. He was treated with hormone replacement therapy and ganciclovir. After correction of the pituitary hormone deficiency and ganciclovir treatment, significant improvements of cholestasis, retinal lesions, and growth rate were seen in our patient. Although an endocrine disorder such as panhypopituitarism is rare in the cause of neonatal or infantile cholestasis, we must keep this reason in mind.

Differences in microbiological profile between community-acquired, healthcare-associated and hospital-acquired infections.

PubMed

Cardoso, Teresa; Ribeiro, Orquídea; Aragão, Irene; Costa-Pereira, Altamiro; Sarmento, António

2013-01-01

Microbiological profiles were analysed and compared for intra-abdominal, urinary, respiratory and bloodstream infections according to place of acquisition: community-acquired, with a separate analysis of healthcare-associated, and hospital-acquired. Prospective cohort study performed at a university tertiary care hospital over 1 year. Inclusion criteria were meeting the Centers for Disease Control definition of intra-abdominal, urinary, respiratory and bloodstream infections. A total of 1035 patients were included in the study. More than 25% of intra-abdominal infections were polymicrobial; multi-drug resistant gram-negatives were 38% in community-acquired, 50% in healthcare-associated and 57% in hospital-acquired. E. coli was the most prevalent among urinary infections: 69% in community-acquired, 56% in healthcare-associated and 26% in hospital-acquired; ESBL producers' pathogens were 10% in healthcare-associated and 3% in community-acquired and hospital-acquired. In respiratory infections Streptococcus pneumoniae was the most prevalent in community-acquired (54%) and MRSA in healthcare-associated (24%) and hospital-acquired (24%). A significant association was found between MRSA respiratory infection and hospitalization in the previous year (adjusted OR = 6.3), previous instrumentation (adjusted OR = 4.3) and previous antibiotic therapy (adjusted OR = 5.7); no cases were documented among patients without risk factors. Hospital mortality rate was 10% in community-acquired, 14% in healthcare-associated and 19% in hospital-acquired infection. This study shows that healthcare-associated has a different microbiologic profile than those from community or hospital acquired for the four main focus of infection. Knowledge of this fact is important because the existing guidelines for community-acquired are not entirely applicable for this group of patients.

Risk factors for acquired myasthenia gravis in dogs: 1,154 cases (1991-1995).

PubMed

Shelton, G D; Schule, A; Kass, P H

1997-12-01

To determine frequency of initial clinical signs and risk factors for acquired myasthenia gravis (MG) in dogs. Retrospective study. 1,154 dogs residing within the United States from 1991 to 1995 with a confirmed diagnosis of acquired MG and 7,176 dogs with other neuromuscular disorders, including generalized weakness, megaesophagus, and dysphagia (control group). Records were retrieved from a database containing results of serum samples tested for acetylcholine receptor antibodies. Signalment, breed, age, state of origin, and month of onset of clinical signs were obtained. An antibody titer > 0.6 nmol/L was diagnostic for acquired MG. Unconditional logistic regression was used for statistical analysis. In comparison with mixed-breed dogs, dogs with the highest risk of acquired MG were Akitas, terrier group, Scottish Terriers, German Shorthaired Pointers, and Chihuahuas. Rottweilers, Doberman Pinschers, Dalmatians, and Jack Russell Terriers had low relative risks. Sexually intact males and dogs less than 1 year old had some protection from risk. Generalized weakness with megaesophagus and megaesophagus alone were the most common initial clinical signs. Breed predispositions for acquired MG were demonstrated. Age and sex were contributing factors. Although most dogs had generalized clinical signs, a substantial proportion of dogs had focal signs.

The Hunt for Natural Skin Whitening Agents

PubMed Central

Smit, Nico; Vicanova, Jana; Pavel, Stan

2009-01-01

Skin whitening products are commercially available for cosmetic purposes in order to obtain a lighter skin appearance. They are also utilized for clinical treatment of pigmentary disorders such as melasma or postinflammatory hyperpigmentation. Whitening agents act at various levels of melanin production in the skin. Many of them are known as competitive inhibitors of tyrosinase, the key enzyme in melanogenesis. Others inhibit the maturation of this enzyme or the transport of pigment granules (melanosomes) from melanocytes to surrounding keratinocytes. In this review we present an overview of (natural) whitening products that may decrease skin pigmentation by their interference with the pigmentary processes. PMID:20054473

Prospective longitudinal evaluation of the effect of deployment-acquired traumatic brain injury on posttraumatic stress and related disorders: results from the Army Study to Assess Risk and Resilience in Servicemembers (Army STARRS).

PubMed

Stein, Murray B; Kessler, Ronald C; Heeringa, Steven G; Jain, Sonia; Campbell-Sills, Laura; Colpe, Lisa J; Fullerton, Carol S; Nock, Matthew K; Sampson, Nancy A; Schoenbaum, Michael; Sun, Xiaoying; Thomas, Michael L; Ursano, Robert J

2015-11-01

Traumatic brain injury (TBI) is increasingly recognized as a risk factor for deleterious mental health and functional outcomes. The purpose of this study was to examine the strength and specificity of the association between deployment-acquired TBI and subsequent posttraumatic stress and related disorders among U.S. Army personnel. A prospective, longitudinal survey of soldiers in three Brigade Combat Teams was conducted 1-2 months prior to an average 10-month deployment to Afghanistan (T0), upon redeployment to the United States (T1), approximately 3 months later (T2), and approximately 9 months later (T3). Outcomes of interest were 30-day prevalence postdeployment of posttraumatic stress disorder (PTSD), major depressive episode, generalized anxiety disorder, and suicidality, as well as presence and severity of postdeployment PTSD symptoms. Complete information was available for 4,645 soldiers. Approximately one in five soldiers reported exposure to mild (18.0%) or more-than-mild (1.2%) TBI(s) during the index deployment. Even after adjusting for other risk factors (e.g., predeployment mental health status, severity of deployment stress, prior TBI history), deployment-acquired TBI was associated with elevated adjusted odds of PTSD and generalized anxiety disorder at T2 and T3 and of major depressive episode at T2. Suicidality risk at T2 appeared similarly elevated, but this association did not reach statistical significance. The findings highlight the importance of surveillance efforts to identify soldiers who have sustained TBIs and are therefore at risk for an array of postdeployment adverse mental health outcomes, including but not limited to PTSD. The mechanism(s) accounting for these associations need to be elucidated to inform development of effective preventive and early intervention programs.

Acquired reactive perforating collagenosis and pseudoporphyric bullous dermatosis in a hemodialysis patient.

PubMed

Sabanis, Nikos; Paschou, Eleni; Gavriilaki, Eleni; Kalaitzoglou, Asterios; Papanikolaou, Dimitrios; Vasileiou, Sotiris; Amplianitis, Ioannis

2016-07-01

Hemodialysis patients present with a broad spectrum of specific and nonspecific skin disorders, which rarely coexist. We report an exceptional case of a hemodialysis patient that developed acquired reactive perforating collagenosis and pseudoporphyric bullous dermatosis on the basis of common skin disorders which include hyperpigmentation, pruritus, xerosis cutis, and Linsday's nails. Interestingly, our patient presented with two unusual but distinctive cutaneous dermopathies on the background of other commonly seen skin alterations. The patient was successfully treated with allopurinol and N-acetylcysteine. Avoidance of potentially triggering factors such as alcohol, sunlight exposure and certain medication was recommended. Thus, increasing clinical awareness, assiduous investigation and early treatment of skin disorders are required to improve the prognosis and quality of life in this patient population. © 2016 International Society for Hemodialysis.

Neural correlates of apathy in patients with neurodegenerative disorders, acquired brain injury, and psychiatric disorders.

PubMed

Kos, Claire; van Tol, Marie-José; Marsman, Jan-Bernard C; Knegtering, Henderikus; Aleman, André

2016-10-01

Apathy can be described as a loss of goal-directed purposeful behavior and is common in a variety of neurological and psychiatric disorders. Although previous studies investigated associations between abnormal brain functioning and apathy, it is unclear whether the neural basis of apathy is similar across different pathological conditions. The purpose of this systematic review was to provide an extensive overview of the neuroimaging literature on apathy including studies of various patient populations, and evaluate whether the current state of affairs suggest disorder specific or shared neural correlates of apathy. Results suggest that abnormalities within fronto-striatal circuits are most consistently associated with apathy across the different pathological conditions. Of note, abnormalities within the inferior parietal cortex were also linked to apathy, a region previously not included in neuroanatomical models of apathy. The variance in brain regions implicated in apathy may suggest that different routes towards apathy are possible. Future research should investigate possible alterations in different processes underlying goal-directed behavior, ranging from intention and goal-selection to action planning and execution. Copyright © 2016. Published by Elsevier Ltd.

Pattern of eye diseases among welders in a Nigeria community.

PubMed

Ajayi Iyiade, A; Omotoye Olusola, J

2012-06-01

Welders have been identified as a high risk group for eye disorders due to their exposure to ultraviolet radiation. To determine the prevalence and types of eye diseases amongst welders in Ile-Ife, Osun state. This is a cross sectional descriptive study of 405 consenting welders. Information on socio-demographic characteristics was obtained using a pre-tested proforma and all subjects had visual actuity test, anterior and posterior segments examination, test of stereopsis and macular function. Two hundred and seventy five (67.9%) of the respondents were arc welders, 99(22.5%) were gas welders while 39(9.6%) utilized both welding techniques. The age of the respondents ranged from 16 years to 80 years with a mean of 38 ± 13 years. Conjunctival degenerative disorders like pingueculum (50.1%) and pterygium(17.5%) constituted the commonest eye disorders among the welders. There were 6 blind eyes of 5 welders with pigmentary maculopathy accounting for the single case of bilateral blindness. There is a greater odd in developing pingueculum and Pterygium (OR=1.015, 1.039 respectively) in arc welders than in gas welders. Pingueculum, Pterygium, corneal opacity, and pigmentary macular deposits were the common eye disorders among welders.

Laugier-Hunziker syndrome: A case report.

PubMed

Wei, Z; Li, G-Y; Ruan, H-H; Zhang, L; Wang, W-M; Wang, X

2018-04-01

Laugier-Hunziker syndrome (LHS) is a rare, benign, acquired pigmentary condition mainly affecting lips, oral mucosa and acral area, frequently associated with longitudinal melanonychia. Herein, we reported a 45-year-old female case with LHS. The clinical, dermoscopic, histopathologic features of LHS were reviewed and the important differential diagnosis was discussed. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Anxiety Disorders among US Immigrants: The Role of Immigrant Background and Social-Psychological Factors.

PubMed

Szaflarski, Magdalena; Cubbins, Lisa A; Meganathan, Karthikeyan

2017-04-01

This study used the National Epidemiological Survey on Alcohol and Related Conditions, a longitudinal adult sample, to estimate the rates of prevalent, acquired, and persisting anxiety disorders by nativity and racial-ethnic origin while adjusting for acculturation, stress, social ties, and sociodemographics. Prevalent and acquired anxiety disorders were less likely among foreign-born than US-born, except Puerto-Rican- and Mexican-born who had higher risks. Persisting cases were similar between foreign-born and US-born, except Asian/Pacific Islanders who had lower risk. Stress and preference for socializing outside one's racial-ethnic group were associated with higher while close ties were associated with lower rates of acquired/persisting anxiety disorders.

FDG PET/CT findings in acquired perforating dermatosis.

PubMed

Shinmura, Akiko; Abe, Koichiro; Baba, Shingo; Isoda, Takuro; Maruoka, Yasuhiro; Yasukawa, Fumiko; Kiryu, Hiromaro; Sasaki, Masayuki; Furue, Masutaka; Honda, Hiroshi

2012-10-01

Acquired perforating dermatosis (APD) is an uncommon cutaneous perforating disorder. We report a patient on hemodialysis who developed skin eruption and jaundice. He underwent FDG PET/CT under suspicion of biliary malignancies. PET/CT showed no significant abnormal uptake except of multiple FDG-avid nodules in the skin. The eruption he had was histopathologically diagnosed as APD by skin biopsy. His case suggests that APD should be considered as a differential diagnosis when multiple cutaneous FDG accumulations are found in a patient on hemodialysis. To the best of our knowledge, this is the first report showing the FDG PET/CT findings of APD.

Case against Diagnosing Developmental Language Disorder by Default: A Single Case Study of Acquired Aphasia Associated with Convulsive Disorder

ERIC Educational Resources Information Center

Marinac, Julie V.; Harper, Laura

2009-01-01

The aim of this article is to inform the diagnostic knowledge base for professionals working in the field of language disorders when classic symptoms, characteristics and sequences are not found. The information reveals the risk of diagnosis with a developmental language disorder (DLD) by default when no underlying cause can be readily identified.…

Childhood Disintegrative Disorder.

ERIC Educational Resources Information Center

Malhotra, Savita; Gupta, Nitin

1999-01-01

This article reviews what is known about childhood distintegrative disorder (CDD), a clinical syndrome characterized by disintegration of mental functions and regression of acquired language and intellectual functions after a period (usually 3-4 years) of normal development. It reviews the condition's epidemiology, onset and progression,…

17 CFR 210.8-06 - Real estate operations acquired or to be acquired.

Code of Federal Regulations, 2012 CFR

2012-04-01

... 17 Commodity and Securities Exchanges 2 2012-04-01 2012-04-01 false Real estate operations acquired or to be acquired. 210.8-06 Section 210.8-06 Commodity and Securities Exchanges SECURITIES AND...-06 Real estate operations acquired or to be acquired. If, during the period for which income...

17 CFR 210.8-06 - Real estate operations acquired or to be acquired.

Code of Federal Regulations, 2013 CFR

2013-04-01

... 17 Commodity and Securities Exchanges 2 2013-04-01 2013-04-01 false Real estate operations acquired or to be acquired. 210.8-06 Section 210.8-06 Commodity and Securities Exchanges SECURITIES AND...-06 Real estate operations acquired or to be acquired. If, during the period for which income...

17 CFR 210.8-06 - Real estate operations acquired or to be acquired.

Code of Federal Regulations, 2014 CFR

2014-04-01

... 17 Commodity and Securities Exchanges 3 2014-04-01 2014-04-01 false Real estate operations acquired or to be acquired. 210.8-06 Section 210.8-06 Commodity and Securities Exchanges SECURITIES AND...-06 Real estate operations acquired or to be acquired. If, during the period for which income...

Acquired hemophilia A: a review of recent data and new therapeutic options.

PubMed

Franchini, Massimo; Vaglio, Stefania; Marano, Giuseppe; Mengoli, Carlo; Gentili, Sara; Pupella, Simonetta; Liumbruno, Giancarlo Maria

2017-10-01

Acquired hemophilia A (AHA) is a rare, but potentially life-threatening, bleeding disorder caused by an autoantibody against factor VIII that interferes with its coagulant function. We performed a narrative review focusing on the diagnostic aspects of AHA and on the current treatment strategies with particular regard to new data and therapeutic developments. The management of this severe hemorrhagic disorder is based on the control of bleeding with the use of bypassing agents and on the utilization of a variety of immunosuppressant agents with the goal of eliminating the autoantibody permanently. The optimal management of AHA should be multidisciplinary and requires a close collaboration between physicians from various specialties.

17 CFR 210.8-06 - Real estate operations acquired or to be acquired.

Code of Federal Regulations, 2011 CFR

2011-04-01

... 17 Commodity and Securities Exchanges 2 2011-04-01 2011-04-01 false Real estate operations acquired or to be acquired. 210.8-06 Section 210.8-06 Commodity and Securities Exchanges SECURITIES AND... Statements of Smaller Reporting Companies § 210.8-06 Real estate operations acquired or to be acquired. If...

Disorders of Platelet Function

PubMed Central

Huebsch, Lothar B.; Harker, Laurence A.

1981-01-01

Platelets play an important role in hemostasis, and alterations in platelet function may be the cause of abnormal bleeding in a wide variety of congenital and acquired clinical disorders. Platelet dysfunction may be classified as disorders of (1) substrate connective tissue, (2) adhesion, (3) aggregation and (4) platelet-release reaction. The congenital defects of platelet function, although uncommon, have provided important insights into platelet physiology and pathophysiology and, as a group, are less common, better characterized and more readily classified than the acquired defects. The severity of bleeding resulting from platelet dysfunction varies greatly and is substantially increased when another defect of hemostasis coexists. A disorder of platelet function is suspected on the basis of the history and physical examination and is confirmed by the finding of a prolonged bleeding time in the presence of an adequate number of platelets. A specific diagnosis often requires measurements of the factor VIII and von Willebrand factor complex and other tests of platelet function. Some of these tests may be available only in specialized laboratories. Therapy for bleeding episodes resulting from platelet dysfunction is directed at (1) removing or treating the underlying cause of the platelet disorder; (2) replacing the missing plasma cofactors needed to support normal platelet function (such as by the transfusion of cryoprecipitate in patients with von Willebrand disease, and (3) transfusing functional platelets in the form of platelet concentrates in patients with disorders of intrinsic platelet dysfunction. ImagesFigure 1.Figure 2.Figure 3. PMID:7013276

Associative Learning Through Acquired Salience

PubMed Central

Treviño, Mario

2016-01-01

Most associative learning studies describe the salience of stimuli as a fixed learning-rate parameter. Presumptive saliency signals, however, have also been linked to motivational and attentional processes. An interesting possibility, therefore, is that discriminative stimuli could also acquire salience as they become powerful predictors of outcomes. To explore this idea, we first characterized and extracted the learning curves from mice trained with discriminative images offering varying degrees of structural similarity. Next, we fitted a linear model of associative learning coupled to a series of mathematical representations for stimulus salience. We found that the best prediction, from the set of tested models, was one in which the visual salience depended on stimulus similarity and a non-linear function of the associative strength. Therefore, these analytic results support the idea that the net salience of a stimulus depends both on the items' effective salience and the motivational state of the subject that learns about it. Moreover, this dual salience model can explain why learning about a stimulus not only depends on the effective salience during acquisition but also on the specific learning trajectory that was used to reach this state. Our mathematical description could be instrumental for understanding aberrant salience acquisition under stressful situations and in neuropsychiatric disorders like schizophrenia, obsessive-compulsive disorder, and addiction. PMID:26793078

Brain activation patterns in women with acquired hypoactive sexual desire disorder and women with normal sexual function: a cross-sectional pilot study.

PubMed

Woodard, Terri L; Nowak, Nicole T; Balon, Richard; Tancer, Manuel; Diamond, Michael P

2013-10-01

To examine and compare brain activation patterns of premenopausal women with normal sexual function and those with hypoactive sexual desire disorder (HSDD) during viewing of validated sexually explicit film clips. Cross-sectional pilot study. University-based clinical research center. Premenopausal women. None. Areas of brain activation during viewing of sexually explicit film clips. Women with normal sexual function showed significantly greater activation of the right thalamus, left insula, left precentral gyrus, and left parahippocampal gyrus in comparison with women with HSDD, who exhibited greater activation of the right medial frontal gyrus and left precuneus regions. Women with HSDD may have alterations in activation of limbic and cortical structures responsible for acquiring, encoding, and retrieving memory, the processing and memory of emotional reactions, and areas responsible for heightened attention to one's own physical state. Copyright © 2013 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Brain activation patterns in women with acquired hypoactive sexual desire disorder and women with normal sexual function: a cross-sectional pilot study

PubMed Central

Woodard, Terri L.; Nowak, Nicole T.; Balon, Richard; Tancer, Manuel; Diamond, Michael P.

2013-01-01

Objective To examine and compare brain activation patterns of premenopausal women with normal sexual function and those with hypoactive sexual desire disorder (HSDD) during viewing of validated sexually explicit film clips. Design Cross-sectional pilot study. Setting University-based clinical research center. Patient(s) Premenopausal women. Intervention(s) None. Main Outcome Measure(s) Areas of brain activation during viewing of sexually explicit film clips. Result(s) Women with normal sexual function showed significantly greater activation of the right thalamus, left insula, left precentral gyrus, and left parahippocampal gyrus in comparison with women with HSDD, who exhibited greater activation of the right medial frontal gyrus and left precuneus regions. Conclusion(s) Women with HSDD may have alterations in activation of limbic and cortical structures responsible for acquiring, encoding, and retrieving memory, the processing and memory of emotional reactions, and areas responsible for heightened attention to one’s own physical state. PMID:23830149

Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.

PubMed

Nishiguchi, Koji M; Friedman, James S; Sandberg, Michael A; Swaroop, Anand; Berson, Eliot L; Dryja, Thaddeus P

2004-12-21

Mice lacking the transcription factor Nrl have no rod photoreceptors and an increased number of short-wavelength-sensitive cones. Missense mutations in NRL are associated with autosomal dominant retinitis pigmentosa; however, the phenotype associated with the loss of NRL function in humans has not been reported. We identified two siblings who carried two allelic mutations: a predicted null allele (L75fs) and a missense mutation (L160P) altering a highly conserved residue in the domain involved in DNA-binding-site recognition. In vitro luciferase reporter assays demonstrated that the NRL-L160P mutant had severely reduced transcriptional activity compared with the WT NRL protein, consistent with a severe loss of function. The affected patients had night blindness since early childhood, consistent with a severe reduction in rod function. Color vision was normal, suggesting the presence of all cone color types; nevertheless, a comparison of central visual fields evaluated with white-on-white and blue-on-yellow light stimuli was consistent with a relatively enhanced function of short-wavelength-sensitive cones in the macula. The fundi had signs of retinal degeneration (such as vascular attenuation) and clusters of large, clumped, pigment deposits in the peripheral fundus at the level of the retinal pigment epithelium (clumped pigmentary retinal degeneration). Our report presents an unusual clinical phenotype in humans with loss-of-function mutations in NRL.

Anxiety Disorders among US Immigrants: The Role of Immigrant Background and Social-Psychological Factors

PubMed Central

Szaflarski, Magdalena; Cubbins, Lisa A.; Meganathan, Karthikeyan

2017-01-01

This study used the National Epidemiological Survey on Alcohol and Related Conditions, a longitudinal adult sample, to estimate the rates of prevalent, acquired, and persisting anxiety disorders by nativity and racial-ethnic origin while adjusting for acculturation, stress, social ties, and sociodemographics. Prevalent and acquired anxiety disorders were less likely among foreign-born than US-born, except Puerto-Rican- and Mexican-born who had higher risks. Persisting cases were similar between foreign-born and US-born, except Asian/Pacific Islanders’ lower risk. Stress and preference for socializing outside one’s racial-ethnic group were associated with higher while close ties were associated with lower rates of acquired/persisting anxiety disorders. PMID:28379742

Morphological alterations within the peripheral fixation of the iris dilator muscle in eyes with pigmentary glaucoma.

PubMed

Flügel-Koch, Cassandra M; Tektas, Ozan Y; Kaufman, Paul L; Paulsen, Friedrich P; Lütjen-Drecoll, Elke

2014-06-17

To analyze the peripheral fixation of the iris dilator muscle in normal eyes and in eyes with pigmentary glaucoma (PG). Using 63 control eyes (age 18 months-99 years), the peripheral iris dilator was investigated by light microscopy, immunohistochemistry, and electron microscopy. Development was studied using 18 differently aged fetal eyes stained immunohistochemically against α-smooth muscle (SM) actin. The peripheral iris dilator muscle in PG was analyzed using semithin and ultrathin sections of six glutaraldehyde-fixed eyes from three donors aged 38, 62, and 74 years. In normal eyes, the peripheral end of the iris dilator muscle is arranged in a sphincter-like manner. Arcade-shaped tendinous connections associated with myofibroblasts (iridial strands) anchor the iris dilator within the elastic-fibromuscular ciliary meshwork that also serves as fixation area for the elastic tendons of the inner ciliary muscle portions. The iridial strands are innervated and can adapt their length during accommodation. The PG eyes show incomplete circular bundles and iridial strands that are mainly anchored to the iris stroma and the flexible uveal parts of the trabecular meshwork. The normal anchorage of the peripheral iris dilator and its presumably neuronally regulated length adaptation stabilize the peripheral iris during accommodation. Insufficient fixation in PG could promote posterior bowing of the iris with rubbing against the zonular fibers and pigment liberation from the iris pigmented epithelium. Copyright 2014 The Association for Research in Vision and Ophthalmology, Inc.

Intensive care unit-acquired weakness.

PubMed

Griffiths, Richard D; Hall, Jesse B

2010-03-01

Severe weakness is being recognized as a complication that impacts significantly on the pace and degree of recovery and return to former functional status of patients who survive the organ failures that mandate life-support therapies such as mechanical ventilation. Despite the apparent importance of this problem, much remains to be understood about its incidence, causes, prevention, and treatment. Review from literature and an expert round-table. The Brussels Round Table Conference in 2009 convened more than 20 experts in the fields of intensive care, neurology, and muscle physiology to review current understandings of intensive care unit-acquired weakness and to improve clinical outcome. Formal electrophysiological evaluation of patients with intensive care unit-acquired weakness can identify peripheral neuropathies, myopathies, and combinations of these disorders, although the correlation of these findings to weakness measurable at the bedside is not always precise. For routine clinical purposes, bedside assessment of neuromuscular function can be performed but is often confounded by complicating factors such as sedative and analgesic administration. Risk factors for development of intensive care unit-acquired weakness include bed rest itself, sepsis, and corticosteroid exposure. A strong association exists between weakness and long-term ventilator dependence; weakness is a major determinant of patient outcomes after surviving acute respiratory failure and may be present for months, or indefinitely, in the convalescence phase of critical illness. Although much has been learned about the physiology and cell and molecular biology of skeletal and diaphragm dysfunction under conditions of aging, exercise, disuse, and sepsis, the application of these understandings to the bedside requires more study in both bench models and patients. Although a trend toward greater immobilization and sedation of patients has characterized the past several decades of intensive care

[Acquired perforating dermatosis in the patient with chronic kidney disease – case report and literature review].

PubMed

Steć, Anna; Paluch-Oleś, Jolanta; Korolczuk, Agnieszka; Magdalena Grzebalska, Agnieszka; Kozioł-Montewka, Maria; Książek, Andrzej

Acquired perforating dermatosis (APD) represents a heterogenous group of skin disorders characterized histopathologically by transepithelial elimination (TEE) of dermal structures. APD is manifested clinically as multi-localized, papulo-nodular skin lesions accompanied by a refractory pruritus. APD typically coexists with long-term disorders, most often diabetic kidney disease (DKD). The paper presents a case of a 56-year-old male patient with chronic kidney disease (CKD) and concomitant acquired reactive perforating collagenosis (ARPC), which is a subtype of APD. Etiological theories of ARPC as well as current diagnostic and treatment principles in dermatosis were described. On the basis of the presented case report and the literature review attention was paid to diagnostic difficulties associated with APD. The assumption was made that APD can be an underdiagnosed disease and thus it is not treated correctly. According to the authors’ opinion, this is an important circumstance to popularize the knowledge about APD.

Comparison of Ganglion Cell and Retinal Nerve Fiber Layer Thickness in Pigment Dispersion Syndrome, Pigmentary Glaucoma, and Healthy Subjects with Spectral-domain OCT.

PubMed

Arifoglu, Hasan Basri; Simavli, Huseyin; Midillioglu, Inci; Berk Ergun, Sule; Simsek, Saban

2017-01-01

To evaluate the ganglion cell complex (GCC) and retinal nerve fiber layer (RNFL) thickness in pigment dispersion syndrome (PDS) and pigmentary glaucoma (PG) with RTVue spectral domain optical coherence tomography (SD-OCT). A total of 102 subjects were enrolled: 29 with PDS, 18 with PG, and 55 normal subjects. Full ophthalmic examination including visual field analysis was performed. SD-OCT was used to analyze GCC superior, GCC inferior, and average RNFL thickness. To compare the discrimination capabilities, the areas under the receiver operating characteristic curves were assessed. Superior GCC, inferior GCC, and RNFL thickness values of patients with PG were statistically signicantly lower than those of patients with PDS (p < 0.001) and healthy individuals (p < 0.001 for all). No statistically significant difference was found between PDS and normal subjects in same parameters (p > 0.05). The SD-OCT-derived GCC and RNFL thickness parameters can be useful to discriminate PG from both PDS and normal subjects.

Regression in autistic spectrum disorders.

PubMed

Stefanatos, Gerry A

2008-12-01

A significant proportion of children diagnosed with Autistic Spectrum Disorder experience a developmental regression characterized by a loss of previously-acquired skills. This may involve a loss of speech or social responsitivity, but often entails both. This paper critically reviews the phenomena of regression in autistic spectrum disorders, highlighting the characteristics of regression, age of onset, temporal course, and long-term outcome. Important considerations for diagnosis are discussed and multiple etiological factors currently hypothesized to underlie the phenomenon are reviewed. It is argued that regressive autistic spectrum disorders can be conceptualized on a spectrum with other regressive disorders that may share common pathophysiological features. The implications of this viewpoint are discussed.

Multifocal Motor Neuropathy, Multifocal Acquired Demyelinating Sensory and Motor Neuropathy and Other Chronic Acquired Demyelinating Polyneuropathy Variants

PubMed Central

Barohn, Richard J.; Katz, Jonathan

2014-01-01

Chronic acquired demyelinating neuropathies (CADP) are an important group of immune neuromuscular disorders affecting myelin. These are distinct from chronic inflammatory demyelinating polyneuropathy (CIDP). Classically, CIDP is characterized by proximal and distal weakness, large fiber sensory loss, elevated cerebrospinal fluid (CSF) protein content, demyelinating changes nerve conduction studies or nerve biopsy, and response to immunomodulating treatment. In this chapter we discuss CADP with emphasis on multifocal motor neuropathy (MMN), multifocal acquired demyelinating sensory and motor neuropathy (MADSAM), distal acquired demyelinating symmetric (DADS) neuropathy and conclude with less common variants. While each of these entities has distinctive laboratory and electrodiagnostic features that aid in their diagnosis, clinical characteristics are of paramount importance in diagnosing specific conditions and determining the most appropriate therapies. Unlike CIDP, MMN is typically asymmetric and affects only the motor nerve fibers. MMN is a rare disease that presents chronically, over several years of progression affecting the arms are more commonly than the legs. Men are more likely than women to develop MMN. MADSAM should be suspected in patients who have weakness and loss of sensation in primarily one arm or leg which progresses slowly over several months to years. It is important in patient with multifocal demyelinating clinical presentation to distinguish MMN from MADSAM since corticosteroids are not effective in MMN where the mainstay of therapy is intravenous gammaglobulin (IVIg). DADS can be subdivided into DADS-M (associated woth M-protein) and DADS-I which is idioapthic. While DADS-I patients respond somewhat to immunotherapy, DADS-M patients present with distal predominant sensorimotor demyelinating neuropathy phenotype and are notoriously refractory to immunotherapies regardless of antibodies to myelin-associated glycoprotein (MAG). Our knowledge

Role of TGF-β signaling in inherited and acquired myopathies

PubMed Central

2011-01-01

The transforming growth factor-beta (TGF-β) superfamily consists of a variety of cytokines expressed in many different cell types including skeletal muscle. Members of this superfamily that are of particular importance in skeletal muscle are TGF-β1, mitogen-activated protein kinases (MAPKs), and myostatin. These signaling molecules play important roles in skeletal muscle homeostasis and in a variety of inherited and acquired neuromuscular disorders. Expression of these molecules is linked to normal processes in skeletal muscle such as growth, differentiation, regeneration, and stress response. However, chronic elevation of TGF-β1, MAPKs, and myostatin is linked to various features of muscle pathology, including impaired regeneration and atrophy. In this review, we focus on the aberrant signaling of TGF-β in various disorders such as Marfan syndrome, muscular dystrophies, sarcopenia, and critical illness myopathy. We also discuss how the inhibition of several members of the TGF-β signaling pathway has been implicated in ameliorating disease phenotypes, opening up novel therapeutic avenues for a large group of neuromuscular disorders. PMID:21798096

Panic attacks and hoarding disorder: an initial investigation.

PubMed

Raines, Amanda M; Oglesby, Mary E; Short, Nicole A; Albanese, Brian J; Schmidt, Norman B

2014-08-01

Panic attacks (PAs) defined as a discrete period of intense fear or discomfort, occur in the context of numerous anxiety and mood related disorders. Research has suggested that PAs serve as a significant indicator and prognostic factor for overall symptom severity, course, and comorbidity within various conditions. Consequently, a PA specifier is now applicable to all DSM-5 disorders. Despite these clinical and nosological implications, no research to date has examined associations between PAs and hoarding disorder. The current investigation evaluated relationships between PA endorsement and hoarding severity within a sample of 32 patients with hoarding disorder. Findings suggested a high rate of panic history among those with hoarding disorder (56%). Hoarders with co-occurring PAs, compared to those without PAs, evidenced significantly higher symptom severity. Moreover, PAs continued to significantly predict hoarding severity even after controlling for relevant covariates. When examining the specific relationships among PAs and hoarding symptoms (i.e., acquiring, difficulty discarding, and clutter), the endorsement of PAs was associated with increased acquiring and difficulty discarding symptoms. These findings add considerably to a growing body of literature on hoarding disorder. Implications for the assessment and treatment of PAs that co-occur with hoarding disorder are discussed. Copyright © 2014 Elsevier Inc. All rights reserved.

WAYS OF ACQUIRING FLYING PHOBIA.

PubMed

Schindler, Bettina; Vriends, Noortje; Margraf, Jürgen; Stieglitz, Rolf-Dieter

2016-02-01

The few studies that have explored how flying phobia is acquired have produced contradictory results. We hypothesized that classical conditioning plays a role in acquiring flying phobia and investigated if vicarious (model) learning, informational learning through media, and experiencing stressful life events at the time of onset of phobia also play a role. Thirty patients with flying phobia and thirty healthy controls matched on age, sex, and education were interviewed with the Mini-DIPS, the short German version of the Anxiety Disorders Interview Schedule (DSM-IV diagnostic criteria) and the Fear-of-Flying History Interview. Fifty Percent of patients with flying phobia and 53% of healthy controls reported frightening events in the air. There was no significant difference between the two samples. Thus there were not more classical conditioning events for patients with flying phobia. There also was no significant difference between the two samples for vicarious (model) learning: 37% of flying phobia patients and 23% of healthy controls felt influenced by model learning. The influence of informational learning through media was significantly higher for the clinical sample (70%) than for the control group (37%). Patients with flying phobia experienced significantly more stressful life events in the period of their frightening flight experience (60%) than healthy controls (19%). Frightening experiences while flying are quite common, but not everybody develops a flying phobia. Stressful life events and other factors might enhance conditionability. Informational learning through negative media reports probably reinforces the development of flying phobia. Clinical implications are discussed. © 2015 Wiley Periodicals, Inc.

Protein A sepharose immunoadsorption: immunological and haemostatic effects in two cases of acquired haemophilia.

PubMed

Guillet, B; Kriaa, F; Huysse, M G; Proulle, V; George, C; Tchernia, G; D'Oiron, R; Laurian, Y; Charpentier, B; Lambert, T; Dreyfus, M

2001-09-01

Acquired haemophilia is a life-threatening disorder caused by circulating auto-antibodies that inhibit factor VIII coagulant activity (FBIII:C). Immunoadsorption on protein A sepharose (IA-PA) was performed in two bleeding patients with acquired haemophilia: we observed a dramatic and quick decrease in the anti-FVIII:C inhibitor titre leading to a normal, albeit transient, haemostatic status. In one case, IA-PA was the only procedure which succeeded in stopping massive haemorrhage. In the second case, IA-PA reinforced the haemostatic effect of recombinant activated factor VII by increasing the endogenous plasma factor VIII level. The efficacy of IA-PA was sustained with immunosuppressive treatment introduced, respectively, 10 and 15 d before the IA-PA procedures. Our experience with IA-PA suggests that this extracorporeal anti-FVIII:C removal procedure is a valuable therapeutic tool for acquired haemophilia and can alleviate life-threatening haemorrhages.

A Pilot Study of the DBT Coach: An Interactive Mobile Phone Application for Individuals with Borderline Personality Disorder and Substance Use Disorder

ERIC Educational Resources Information Center

Rizvi, Shireen L.; Dimeff, Linda A.; Skutch, Julie; Carroll, David; Linehan, Marsha M.

2011-01-01

Dialectical behavior therapy (DBT) has received strong empirical support and is practiced widely as a treatment for borderline personality disorder (BPD) and BPD with comorbid substance use disorders (BPD-SUD). Therapeutic success in DBT requires that individuals generalize newly acquired skills to their natural environment. However, there have…

12 CFR 583.1 - Acquire.

Code of Federal Regulations, 2010 CFR

2010-01-01

... 12 Banks and Banking 5 2010-01-01 2010-01-01 false Acquire. 583.1 Section 583.1 Banks and Banking OFFICE OF THRIFT SUPERVISION, DEPARTMENT OF THE TREASURY DEFINITIONS FOR REGULATIONS AFFECTING SAVINGS AND LOAN HOLDING COMPANIES § 583.1 Acquire. The term acquire means to acquire, directly or indirectly...

Acquired aplastic anemia.

PubMed

Keohane, Elaine M

2004-01-01

Acquired aplastic anemia (AA) is a disorder characterized by a profound deficit of hematopoietic stem and progenitor cells, bone marrow hypocellularity, and peripheral blood pancytopenia. It primarily affects children, young adults, and those over 60 years of age. The majority of cases are idiopathic; however, idiosyncratic reactions to some drugs, chemicals, and viruses have been implicated in its etiology. An autoimmune T-cell reaction likely causes the stem cell depletion, but the precise mechanism, as well as the eliciting and target antigens, is unknown. Symptoms vary from severe life-threatening cytopenias to moderate or non-severe disease that does not require transfusion support. The peripheral blood typically exhibits pancytopenia, reticulocytopenia, and normocytic or macrocytic erythrocytes. The bone marrow is hypocellular and may exhibit dysplasia of the erythrocyte precursors. First line treatment for severe AA consists of hematopoietic stem cell transplantation in young patients with HLA identical siblings, while immunosuppression therapy is used for older patients and for those of any age who lack a HLA matched donor. Patients with AA have an increased risk of developing paroxysmal nocturnal hemoglobinuria (PNH), myelodysplastic syndrome (MDS), or acute leukemia. Further elucidation of the pathophysiology of this disease will result in a better understanding of the interrelationship among AA, PNH, and MDS, and may lead to novel targeted therapies.

Acquired neuropathies.

PubMed

Lozeron, Pierre; Trocello, Jean-Marc; Kubis, Nathalie

2013-09-01

Acquired neuropathies represent most of the neuropathies encountered in clinical practice. Hundreds of causes have been identified even though up to 41% of patients are still classified as idiopathic (Rajabally and Shah in J Neurol 258:1431-1436, 1). Routine evaluation relies on comprehensive medical history taking, clinical examination, nerve conduction studies and laboratory tests. Other investigations such as nerve biopsy or nerve or muscle imaging are performed in specific settings. This review focuses on recent advances in acquired neuropathies.

Evidence to Practice Commentary: New Evidence in Developmental Coordination Disorder (DCD)

ERIC Educational Resources Information Center

Novak, Iona

2013-01-01

Developmental coordination disorder (DCD) is frequently under-recognized, but in fact, it occurs in as many as 5-6% of children. DCD is a disorder of motor coordination that is not explained by intellectual disability or any congenital or acquired neurological disorder. Families seek physical and occupational therapy (OT) to ameliorate a child…

Hypercalcemic Disorders in Children

PubMed Central

Stokes, Victoria J; Nielsen, Morten F; Hannan, Fadil M

2017-01-01

ABSTRACT Hypercalcemia is defined as a serum calcium concentration that is greater than two standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive, and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms. The causes of hypercalcemia in children can be classified as parathyroid hormone (PTH)‐dependent or PTH‐independent, and may be congenital or acquired. PTH‐independent hypercalcemia, ie, hypercalcemia associated with a suppressed PTH, is commoner in children than PTH‐dependent hypercalcemia. Acquired causes of PTH‐independent hypercalcemia in children include hypervitaminosis; granulomatous disorders, and endocrinopathies. Congenital syndromes associated with PTH‐independent hypercalcemia include idiopathic infantile hypercalcemia (IIH), William's syndrome, and inborn errors of metabolism. PTH‐dependent hypercalcemia is usually caused by parathyroid tumors, which may give rise to primary hyperparathyroidism (PHPT) or tertiary hyperparathyroidism, which usually arises in association with chronic renal failure and in the treatment of hypophosphatemic rickets. Acquired causes of PTH‐dependent hypercalcemia in neonates include maternal hypocalcemia and extracorporeal membrane oxygenation. PHPT usually occurs as an isolated nonsyndromic and nonhereditary endocrinopathy, but may also occur as a hereditary hypercalcemic disorder such as familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, and familial isolated primary hyperparathyroidism, and less commonly, as part of inherited complex syndromic disorders such as multiple endocrine neoplasia

Hypercalcemic Disorders in Children.

PubMed

Stokes, Victoria J; Nielsen, Morten F; Hannan, Fadil M; Thakker, Rajesh V

2017-11-01

Hypercalcemia is defined as a serum calcium concentration that is greater than two standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive, and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms. The causes of hypercalcemia in children can be classified as parathyroid hormone (PTH)-dependent or PTH-independent, and may be congenital or acquired. PTH-independent hypercalcemia, ie, hypercalcemia associated with a suppressed PTH, is commoner in children than PTH-dependent hypercalcemia. Acquired causes of PTH-independent hypercalcemia in children include hypervitaminosis; granulomatous disorders, and endocrinopathies. Congenital syndromes associated with PTH-independent hypercalcemia include idiopathic infantile hypercalcemia (IIH), William's syndrome, and inborn errors of metabolism. PTH-dependent hypercalcemia is usually caused by parathyroid tumors, which may give rise to primary hyperparathyroidism (PHPT) or tertiary hyperparathyroidism, which usually arises in association with chronic renal failure and in the treatment of hypophosphatemic rickets. Acquired causes of PTH-dependent hypercalcemia in neonates include maternal hypocalcemia and extracorporeal membrane oxygenation. PHPT usually occurs as an isolated nonsyndromic and nonhereditary endocrinopathy, but may also occur as a hereditary hypercalcemic disorder such as familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, and familial isolated primary hyperparathyroidism, and less commonly, as part of inherited complex syndromic disorders such as multiple endocrine neoplasia (MEN). Advances in

The relationship between neuroticism, major depressive disorder and comorbid disorders in Chinese women

PubMed Central

Xia, Jing; He, Qiang; Li, Yihan; Xie, Dong; Zhu, Suoyu; Chen, Jing; Shen, Yuan; Zhang, Ning; Wei, Yan; Chen, Chunfeng; Shen, Jianhua; Zhang, Yan; Gao, Chengge; Li, Youhui; Ding, Jihong; Shen, Wenwu; Wang, Qian; Cao, Meiyue; Liu, Tiebang; Zhang, Jinbei; Duan, Huijun; Bao, Cheng; Ma, Ping; Zhou, Cong; Luo, Yanfang; Zhang, Fengzhi; Liu, Ying; Li, Yi; Jin, Guixing; Zhang, Yutang; Liang, Wei; Chen, Yunchun; Zhao, Changyin; Li, Haiyan; Chen, Yiping; Shi, Shenxun; Kendler, Kenneth S.; Flint, Jonathan; Wang, Xumei

2011-01-01

Objective The personality trait of neuroticism is a risk factor for major depressive disorder (MDD), but this relationship has not been demonstrated in clinical samples from Asia. Methods We examined a large-scale clinical study of Chinese Han women with recurrent major depression and community-acquired controls. Results Elevated levels of neuroticism increased the risk for lifetime MDD (with an odds ratio of 1.37 per SD), contributed to the comorbidity of MDD with anxiety disorders, and predicted the onset and severity of MDD. Our findings largely replicate those obtained in clinical populations in Europe and US but differ in two ways: we did not find a relationship between melancholia and neuroticism; we found lower mean scores for neuroticism (3.6 in our community control sample). Limitations Our findings do not apply to MDD in community-acquired samples and may be limited to Han Chinese women. It is not possible to determine whether the association between neuroticism and MDD reflects a causal relationship. Conclusions Neuroticism acts as a risk factor for MDD in Chinese women, as it does in the West and may particularly predispose to comorbidity with anxiety disorders. Cultural factors may have an important effect on its measurement. PMID:21824661

Demographic and clinical data in acquired hemophilia A: results from the European Acquired Haemophilia Registry (EACH2).

PubMed

Knoebl, P; Marco, P; Baudo, F; Collins, P; Huth-Kühne, A; Nemes, L; Pellegrini, F; Tengborn, L; Lévesque, H

2012-04-01

Acquired hemophilia A (AHA) is a rare autoimmune disease caused by autoantibodies against coagulation factor VIII and characterized by spontaneous hemorrhage in patients with no previous family or personal history of bleeding. Although data on several AHA cohorts have been collected, limited information is available on the optimal management of AHA. The European Acquired Hemophilia Registry (EACH2) was established to generate a prospective, large-scale, pan-European database on demographics, diagnosis, underlying disorders, bleeding characteristics, treatment and outcome of AHA patients. Five hundred and one (266 male, 235 female) patients from 117 centers and 13 European countries were included in the registry between 2003 and 2008. In 467 cases, hemostasis investigations and AHA diagnosis were triggered by a bleeding event. At diagnosis, patients were a median of 73.9 years. AHA was idiopathic in 51.9%; malignancy or autoimmune diseases were associated with 11.8% and 11.6% of cases. Fifty-seven per cent of the non-pregnancy-related cases were male. Four hundred and seventy-four bleeding episodes were reported at presentation, and hemostatic therapy initiated in 70.5% of patients. Delayed diagnosis significantly impacted treatment initiation in 33.5%. Four hundred and seventy-seven patients underwent immunosuppression, and 72.6% achieved complete remission. Representing the largest collection of consecutive AHA cases to date, EACH2 facilitates the analysis of a variety of open questions in AHA. © 2012 International Society on Thrombosis and Haemostasis.

Multiple myeloma associated with acquired cutis laxa.

PubMed

Cho, S Y; Maguire, R F

1980-08-01

Acquired cutis laxa is a rare disorder characterized by diffuse laxity of the skin and loss of connective tissue support with involvement of the lungs, gastrointestinal tract, pelvic organs, and aorta. The case report presented herein describes a forty-six year old woman with multiple myeloma and cutis laxa. Her history included several severe allergic reactions and the gradual development of lax skin, loss of connective tissue support throughout the body, and emphysema. At autopsy, multiple myeloma, diffuse laxity of the skin, and panacinar emphysema were found. The amount of elastic fiber in the skin, lungs, and aorta was decreased and showed abnormal fragmentation. Results of direct immunofluorescence study demonstrated IgG bound to dermal elastic fibers. Speculation regarding an immunologic etiology of the elastic tissue abnormality is presented herein.

Acquired Hemophilia A in an advanced age patient of hispanic origin: a case report.

PubMed

Rivera Cora, Nalyssa I; Irizarry Delgado, Freddie; Merle Ramírez, Santa M; Vera Quiñones, Jorge

2017-09-04

Acquired Hemophilia A (AHA) is a rare hematological disorder that exhibits an incidence of approximately 1.5 cases per million patients a year. It is characterized by the development of autoantibodies against circulating Factor VIII coagulation proteins which, in turn, which in turn lead to potentially life-threatening hemorrhagic episodes. The incidence of AHA increases with age; with 80% of the affected patient population encompassing men and women that are 65 years or older. Some of the challenges that are highlighted in managing this disorder relate to the delayed diagnosis of this condition due to the rarity of the latter, the difficulty in establishing reliable hemostasis, and the secondary complications that are found when using immunosuppressive and hemostatic treatments in tandem with the elderly population afflicted with this disease. A 90-year-old female of Hispanic origin presented with a 2-week history of generalized weakness, dizziness, shortness of breath and extensive purpuric formations that involved the left arm towards the lateral aspect of the thorax with the inclusion of a small right lateral neck hematoma formation. Upon initial laboratory screening, a hemoglobin level of 7.9, a hematocrit level of 21.9 and a PTT value of 70.9 were discovered. Despite conventional hemostatic treatment approaches, the patient did not show marked improvement of the laboratory values. Ongoing specialized laboratory reports, combined with the clinical presentation of the patient, led to the diagnosis of Acquired Hemophilia A. Treatment with recombinant porcine Factor VIII was initiated, which led to rapid improvement of clinical symptoms and laboratory values. The patient was discharged with current treatment plan and emergent follow/up with a hematologist was scheduled. Acquired Hemophilia A is an elusive bleeding disorder that has been seldom encountered in the demographics of Puerto Rico. The prompt detection of this diagnosis based on the clinical

A novel paraneoplastic syndrome with acquired lipodystrophy and chronic inflammatory demyelinating polyneuropathy in an adolescent male with craniopharyngioma.

PubMed

Lockemer, Hillary Elizabeth; Sumpter, Kathryn Maria; Cope-Yokoyama, Sandy; Garg, Abhimanyu

2018-03-28

Acquired lipodystrophy, craniopharyngioma and chronic inflammatory demyelinating polyneuropathy (CIDP) are individually rare disorders, and have never before been reported in a single patient. A 15-year-7 month old Caucasian male presented with lower extremity weakness, frequent falls and abnormal fat distribution occurring over the previous 1 year. He was diagnosed with CIDP, craniopharyngioma and acquired lipodystrophy. The patient underwent tumor debulking and cranial irradiation for the craniopharyngioma, and received monthly intravenous immunoglobulin for the CIDP. The patient initially had some resolution of the lipodystrophy phenotype, but subsequently the abnormal fat distribution recurred and the patient developed additional systemic abnormalities, including mild pancytopenia and hepatic fibrosis. Our patient represents a novel association of acquired lipodystrophy, craniopharyngioma, and CIDP, possibly due to an as yet unidentified paraneoplastic autoantibody.

[PECULIARITIES OF COMMUNITY-ACQUIRED PNEUMONIA IN CHILDREN WITH NEUROLOGICAL PATHOLOGY].

PubMed

Zubarenko, O; Kopiyka, G; Kravchenko, T; Koval, L; Gurienko, K

2017-06-01

Neurological disorders in children highly affect the course of pneumonia, its outcome and the development of possible complications. The aim of the study was to reveal clinical and paraclinical features of community-acquired pneumonia in younger children with neurologic pathology infantile cerebral palsy. Under observation were 37 children with community-acquired pneumonia aged 1 to 3 years that suffered from spastic forms of infantile cerebral palsy. The comparison group consisted of 30 children with community-acquired pneumonia without any concomitant neurological pathology. The age of the children in the comparison and study groups was the same. The results of the study show that the presence of infantile cerebral palsy allow to relate the child to the risk group of respiratory pathology development. The course of community-acquired pneumonia in children affected by infantile cerebral palsy is characterized by rapid progression of symptoms and severity of the condition, and the clinical picture also has a number of characteristic features. Thus, cough, local physical data, classical laboratory signs of inflammation in the form of leukocytosis with neutrophil shift were noticed significantly less often in children with infantile cerebral palsy. The debut of the disease was often accompanied by bronchial obstruction, the inflammatory process was localized in the lower parts of the lungs and often matched the side of the neurologically affected part of the body. Children with cerebral palsy required a longer hospital-stay and a prolonged course of antibiotic therapy. Therefore, the risk of pneumonia in children with infantile cerebral palsy should be taken into account at the primary stage of medical care for the creation of preventive programs.

Acquired and congenital disorders of sung performance: A review.

PubMed Central

Berkowska, Magdalena; Dalla Bella, Simone

2009-01-01

Many believe that the majority of people are unable to carry a tune. Yet, this widespread idea underestimates the singing abilities of the layman. Most occasional singers can sing in tune and in time, provided that they perform at a slow tempo. Here we characterize proficient singing in the general population and identify its neuronal underpinnings by reviewing behavioral and neuroimaging studies. In addition, poor singing resulting from a brain injury or neurogenetic disorder (i.e., tone deafness or congenital amusia) is examined. Different lines of evidence converge in indicating that poor singing is not a monolithic deficit. A variety of poor-singing "phenotypes" are described, with or without concurrent perceptual deficits. In addition, particular attention is paid to the dissociations between specific abilities in poor singers (e.g., production of absolute vs. relative pitch, pitch vs. time accuracy). Such diversity of impairments in poor singers can be traced to different faulty mechanisms within the vocal sensorimotor loop, such as pitch perception and sensorimotor integration. PMID:20523851

An extra X does not prevent acquired hemophilia - Pregnancy-associated acquired hemophilia A.

PubMed

Barg, Assaf A; Livnat, Tami; Kenet, Gili

2017-03-01

Acquired hemophilia A (AHA) is a severe bleeding disorder caused by autoantibodies against clotting factor VIII (FVIII). With an estimated annual incidence of 1.3 to 1.5 per million, AHA is a rare disease. An extremely rare form of AHA has been described among women in the peripartum period, and may present with peripartum hemorrhage. Notably, although hemorrhagic symptoms commonly present 1-4 months around delivery, they may occur up to 1 year after parturition. When caring for a mother with AHA it is important to note that Factor VIII inhibitor may be transferred via the placenta from the mother to the fetus. Hence the newborn may also be affected. It is important to increase the awareness of Gynecologists for clinical symptoms and laboratory signs of AHA in order to avoid delayed diagnosis. Treatment may involve use of bypass agents to control hemorrhage, despite the risk of thrombosis, while immunomodulation (with increasing role for Rituximab) may be required to eradicate the inhibiting antibodies. Our review will evaluate the epidemiology, diagnosis, clinical course and treatment of peripartum AHA, focusing upon mother and infant care. © 2017 Elsevier Ltd. All rights reserved.

Management of sulcus-fixated single-piece intraocular lens-induced pigmentary glaucoma with 3-piece IOL exchange.

PubMed

Rabie, Hossein Mohammad; Esfandiari, Hamed; Rikhtegar, Mohammad Hassan; Hekmat, Vahid

2018-02-01

To describe our experience with exchanging sulcus-fixated single-piece intraocular lens (IOL) with 3-piece IOLs for management of pigmentary glaucoma. In this retrospective study, records of patients who underwent sulcus-fixated single-piece IOL exchanged with 3-piece IOLs were retrieved, and demographic and baseline data of patients, type of IOL, pre- and post-IOL exchange BCVA, IOP, number of anti-glaucoma medications, and optic nerve head examination were documented. Baseline and final examinations were analyzed and compared. Mean age of the patients was 59 ± 10 years, and 5 (41.6%) were female. Mean interval between primary cataract extraction operation and IOL exchange was 17 ± 5 months. Nine patients received in sulcus implantation of Alcon SA60AT, and three patients had SN60WF model at the end of primary surgery. BCVA changed insignificantly from 0.06 ± 0.06 logMAR to 0.06 ± 0.06 after IOL exchange. (P = 0.22) IOP was controlled in 8 cases (66.6%), but four cases (33.3%) needed glaucoma surgery to further control glaucoma condition. IOP decreased significantly from preoperative 17 ± 3 to 14 ± 1 mmHg postoperatively. Patients with advanced age and higher baseline IOP were more likely to undergo glaucoma surgery after IOL exchange. (P = 0.07 and 0.00, respectively). single-piece IOL exchange with 3-piece IOL dramatically decreases pigment release and reduces IOP. Those with advanced age and higher IOP are less likely to respond to IOL exchange and may need glaucoma surgery to control high intraocular pressure.

Functional speech disorders: clinical manifestations, diagnosis, and management.

PubMed

Duffy, J R

2016-01-01

Acquired psychogenic or functional speech disorders are a subtype of functional neurologic disorders. They can mimic organic speech disorders and, although any aspect of speech production can be affected, they manifest most often as dysphonia, stuttering, or prosodic abnormalities. This chapter reviews the prevalence of functional speech disorders, the spectrum of their primary clinical characteristics, and the clues that help distinguish them from organic neurologic diseases affecting the sensorimotor networks involved in speech production. Diagnosis of a speech disorder as functional can be supported by sometimes rapidly achieved positive outcomes of symptomatic speech therapy. The general principles of such therapy are reviewed. © 2016 Elsevier B.V. All rights reserved.

Acquired color vision deficiency.

PubMed

Simunovic, Matthew P

2016-01-01

Acquired color vision deficiency occurs as the result of ocular, neurologic, or systemic disease. A wide array of conditions may affect color vision, ranging from diseases of the ocular media through to pathology of the visual cortex. Traditionally, acquired color vision deficiency is considered a separate entity from congenital color vision deficiency, although emerging clinical and molecular genetic data would suggest a degree of overlap. We review the pathophysiology of acquired color vision deficiency, the data on its prevalence, theories for the preponderance of acquired S-mechanism (or tritan) deficiency, and discuss tests of color vision. We also briefly review the types of color vision deficiencies encountered in ocular disease, with an emphasis placed on larger or more detailed clinical investigations. Copyright © 2016 Elsevier Inc. All rights reserved.

AIDS: Acquired Immune Deficiency Syndrome, Information and Procedural Guidelines for Providing Services to Persons with AIDS/HTLV-III.

ERIC Educational Resources Information Center

Montana State Dept. of Health and Environmental Sciences, Helena.

This manual presents information about the disease, Acquired Immune Deficiency Syndrome (AIDS), and guidelines for service delivery to Montana residents who have been diagnosed with AIDS or related disorders. The first section describes the disease's causes, symptoms, and transmission; risk factors; high-risk populations; prevention suggestions;…

Developmental disorders: what can be learned from cognitive neuropsychology?

PubMed

Castles, Anne; Kohnen, Saskia; Nickels, Lyndsey; Brock, Jon

2014-01-01

The discipline of cognitive neuropsychology has been important for informing theories of cognition and describing the nature of acquired cognitive disorders, but its applicability in a developmental context has been questioned. Here, we revisit this issue, asking whether the cognitive neuropsychological approach can be helpful for exploring the nature and causes of developmental disorders and, if so, how. We outline the key features of the cognitive neuropsychological approach, and then consider how some of the major challenges to this approach from a developmental perspective might be met. In doing so, we distinguish between challenges to the methods of cognitive neuropsychology and those facing its deeper conceptual underpinnings. We conclude that the detailed investigation of patterns of both associations and dissociations, and across both developmental and acquired cases, can assist in describing the cognitive deficits within developmental disorders and in delineating possible causal pathways to their acquisition.

Developmental disorders: what can be learned from cognitive neuropsychology?

PubMed Central

Castles, Anne; Kohnen, Saskia; Nickels, Lyndsey; Brock, Jon

2014-01-01

The discipline of cognitive neuropsychology has been important for informing theories of cognition and describing the nature of acquired cognitive disorders, but its applicability in a developmental context has been questioned. Here, we revisit this issue, asking whether the cognitive neuropsychological approach can be helpful for exploring the nature and causes of developmental disorders and, if so, how. We outline the key features of the cognitive neuropsychological approach, and then consider how some of the major challenges to this approach from a developmental perspective might be met. In doing so, we distinguish between challenges to the methods of cognitive neuropsychology and those facing its deeper conceptual underpinnings. We conclude that the detailed investigation of patterns of both associations and dissociations, and across both developmental and acquired cases, can assist in describing the cognitive deficits within developmental disorders and in delineating possible causal pathways to their acquisition. PMID:24324246

Cognitive Rehabilitation of Episodic Memory Disorders: From Theory to Practice

PubMed Central

Ptak, Radek; der Linden, Martial Van; Schnider, Armin

2010-01-01

Memory disorders are among the most frequent and most debilitating cognitive impairments following acquired brain damage. Cognitive remediation strategies attempt to restore lost memory capacity, provide compensatory techniques or teach the use of external memory aids. Memory rehabilitation has strongly been influenced by memory theory, and the interaction between both has stimulated the development of techniques such as spaced retrieval, vanishing cues or errorless learning. These techniques partly rely on implicit memory and therefore enable even patients with dense amnesia to acquire new information. However, knowledge acquired in this way is often strongly domain-specific and inflexible. In addition, individual patients with amnesia respond differently to distinct interventions. The factors underlying these differences have not yet been identified. Behavioral management of memory failures therefore often relies on a careful description of environmental factors and measurement of associated behavioral disorders such as unawareness of memory failures. The current evidence suggests that patients with less severe disorders benefit from self-management techniques and mnemonics whereas rehabilitation of severely amnesic patients should focus on behavior management, the transmission of domain-specific knowledge through implicit memory processes and the compensation for memory deficits with memory aids. PMID:20700383

Development of the Aboriginal Communication Assessment After Brain Injury (ACAABI): A screening tool for identifying acquired communication disorders in Aboriginal Australians.

PubMed

Armstrong, Elizabeth M; Ciccone, Natalie; Hersh, Deborah; Katzenellebogen, Judith; Coffin, Juli; Thompson, Sandra; Flicker, Leon; Hayward, Colleen; Woods, Deborah; McAllister, Meaghan

2017-06-01

Acquired communication disorders (ACD), following stroke and traumatic brain injury, may not be correctly identified in Aboriginal Australians due to a lack of linguistically and culturally appropriate assessment tools. Within this paper we explore key issues that were considered in the development of the Aboriginal Communication Assessment After Brain Injury (ACAABI) - a screening tool designed to assess the presence of ACD in Aboriginal populations. A literature review and consultation with key stakeholders were undertaken to explore directions needed to develop a new tool, based on existing tools and recommendations for future developments. The literature searches revealed no existing screening tool for ACD in these populations, but identified tools in the areas of cognition and social-emotional wellbeing. Articles retrieved described details of the content and style of these tools, with recommendations for the development and administration of a new tool. The findings from the interview and focus group views were consistent with the approach recommended in the literature. There is a need for a screening tool for ACD to be developed but any tool must be informed by knowledge of Aboriginal language, culture and community input in order to be acceptable and valid.

Classification of Systemic and Localized Sweating Disorders.

PubMed

Ohshima, Yuichiro; Tamada, Yasuhiko

2016-01-01

Hyperhidrosis can be subdivided into generalized hyperhidrosis, with increased sweating over the entire body, and focal hyperhidrosis, in which the excessive sweating is restricted to specific parts of the body. Generalized hyperhidrosis may be either primary (idiopathic) or secondary. Secondary generalized hyperhidrosis may be caused by infections such as tuberculosis, hyperthyroidism, endocrine and metabolic disturbances such as pheochromocytoma, neurological disorders, or drugs. Focal hyperhidrosis may also be primary (idiopathic) or secondary. Frey's syndrome is one form of secondary focal hyperhidrosis that occurs during eating together with reddening of the area in front of the ear following parotid gland surgery or injury. Primary focal hyperhidrosis is particularly common on the palms and soles of the feet, in the axilla, and on the head. Anhidrosis may be either congenital/genetic or acquired. Some of the most typical forms of congenital/genetic anhidrosis include hypohidrotic ectodermal dysplasia, congenital insensitivity to pain and anhidrosis, and Fabry disease. Acquired anhidrosis is classified as secondary anhidrosis, which may be due to an underlying disorder such as a neurological disorder, an endocrine or metabolic disturbance, or the effect of drugs, or idiopathic anhidrosis for which the pathology, cause, and mechanism are unknown. Idiopathic anhidrosis is classified into acquired idiopathic generalized anhidrosis (AIGA), idiopathic segmental anhidrosis, and Ross syndrome. AIGA is divided into three categories according to differences in the site of disturbance: (1) sudomotor neuropathy, (2) idiopathic pure sudomotor failure, and (3) sweat gland failure. © 2016 S. Karger AG, Basel.

Brief Report: Childhood Disintegrative Disorder as a Likely Manifestation of Vitamin B12 Deficiency

ERIC Educational Resources Information Center

Malhotra, Savita; Subodh, B. N.; Parakh, Preeti; Lahariya, Sanjay

2013-01-01

Childhood disintegrative disorder is a rare disorder, characterized by regression of acquired skills after a period of normal development. The case of childhood disintegrative disorder presented here was found to have vitamin B12 deficiency and hyperhomocysteinemia on extensive evaluation to find a probable cause for regression. This case…

Genetic disorders of thyroid metabolism and brain development

PubMed Central

Kurian, Manju A; Jungbluth, Heinz

2014-01-01

Normal thyroid metabolism is essential for human development, including the formation and functioning of the central and peripheral nervous system. Disorders of thyroid metabolism are increasingly recognized within the spectrum of paediatric neurological disorders. Both hypothyroid and hyperthyroid disease states (resulting from genetic and acquired aetiologies) can lead to characteristic neurological syndromes, with cognitive delay, extrapyramidal movement disorders, neuropsychiatric symptoms, and neuromuscular manifestations. In this review, the neurological manifestations of genetic disorders of thyroid metabolism are outlined, with particular focus on Allan-Herndon-Dudley syndrome and benign hereditary chorea. We report in detail the clinical features, major neurological and neuropsychiatric manifestations, molecular genetic findings, disease mechanisms, and therapeutic strategies for these emerging genetic ‘brain-thyroid’ disorders. PMID:24665922

Association of acquired thrombotic thrombocytopaenic purpura in a patient with pernicious anaemia

PubMed Central

Podder, Sidhertha; Cervates, Jose; Dey, Bimalangshu R

2015-01-01

Pernicious anaemia is an autoimmune disease caused by intrinsic factor antibody; it leads to vitamin B12 deficiency and is marked by ineffective erythropoiesis. Haematological features reveal macrocytosis, hyperchromasia and hypersegmented neutrophils. Schistocytes are typically seen in microangiopathy, such as in thrombotic thrombocytopaenic purpura (TTP)/haemolytic uraemic syndrome or disseminated intravascular haemolysis (DIC). We report a case of a patient with severe anaemia who presented to the emergency room. Peripheral smear revealed macrocytosis, hypersegmented neutrophils and marked schistocytosis. The patient also had high reticulocyte count with high serum lactate dehydrogenase, elevated D-dimer, low fibrinogen and low haptoglobin. Vitamin B12 level came back low and the presence of intrinsic factor antibody confirmed pernicious anaemia. ADAMTS13 level was noted to be mildly reduced, which raised the suspicion of the association of acquired TTP with pernicious anaemia. Acquired TTP is another autoimmune disorder and its association with pernicious anaemia needs further evaluation. PMID:26464409

Association of acquired thrombotic thrombocytopaenic purpura in a patient with pernicious anaemia.

PubMed

Podder, Sidhertha; Cervates, Jose; Dey, Bimalangshu R

2015-10-13

Pernicious anaemia is an autoimmune disease caused by intrinsic factor antibody; it leads to vitamin B12 deficiency and is marked by ineffective erythropoiesis. Haematological features reveal macrocytosis, hyperchromasia and hypersegmented neutrophils. Schistocytes are typically seen in microangiopathy, such as in thrombotic thrombocytopaenic purpura (TTP)/haemolytic uraemic syndrome or disseminated intravascular haemolysis (DIC). We report a case of a patient with severe anaemia who presented to the emergency room. Peripheral smear revealed macrocytosis, hypersegmented neutrophils and marked schistocytosis. The patient also had high reticulocyte count with high serum lactate dehydrogenase, elevated D-dimer, low fibrinogen and low haptoglobin. Vitamin B12 level came back low and the presence of intrinsic factor antibody confirmed pernicious anaemia. ADAMTS13 level was noted to be mildly reduced, which raised the suspicion of the association of acquired TTP with pernicious anaemia. Acquired TTP is another autoimmune disorder and its association with pernicious anaemia needs further evaluation. 2015 BMJ Publishing Group Ltd.

Audiological and electrophysiological evaluation of children with acquired immunodeficiency syndrome (AIDS).

PubMed

Matas, Carla Gentile; Leite, Renata Aparecida; Magliaro, Fernanda Cristina Leite; Gonçalves, Isabela Crivellaro

2006-08-01

We examined the peripheral auditory system and the auditory brainstem pathway of children with Acquired Immunodeficiency Syndrome (AIDS). One hundred and one children, 51 with AIDS diagnosis and 50 normal children were evaluated. Audiological assessment included immittance measures, pure tone and speech audiometry and auditory brainstem response (ABR). The children with AIDS more frequently had abnormal results than did their matched controls, presenting either peripheral or auditory brainstem impairment. We suggest that AIDS be considered a risk factor for peripheral and/or auditory brainstem disorders. Further research should be carried out to investigate the auditory effects of HIV infection along the auditory pathway.

How trait anxiety, interpretation bias and memory affect acquired fear in children learning about new animals.

PubMed

Field, Zoë C; Field, Andy P

2013-06-01

Cognitive models of vulnerability to anxiety propose that information processing biases such as interpretation bias play a part in the etiology and maintenance of anxiety disorders. However, at present little is known about the role of memory in information processing accounts of child anxiety. The current study investigates the relationships between interpretation biases, memory and fear responses when learning about new stimuli. Children (aged 8-11 years) were presented with ambiguous information regarding a novel animal, and their fear, interpretation bias, and memory for the information was measured. The main findings were: (1) trait anxiety and interpretation bias significantly predicted acquired fear; (2) interpretation bias did not significantly mediate the relationship between trait anxiety and acquired fear; (3) interpretation bias appeared to be a more important predictor of acquired fear than trait anxiety per se; and (4) the relationship between interpretation bias and acquired fear was not mediated by the number of negative memories but was mediated by the number of positive and false-positive memories. The findings suggest that information processing models of child anxiety need to explain the role of positive memory in the formation of fear responses.

Comorbidity in Hoarding Disorder

PubMed Central

Frost, Randy O.; Steketee, Gail; Tolin, David F.

2011-01-01

Hoarding Disorder (HD) is currently under consideration for inclusion as a distinct disorder in DSM-5 (1). Few studies have examined comorbidity patterns in people who hoard, and the ones that have suffer from serious methodological shortcomings including drawing from populations already diagnosed with obsessive compulsive disorder (OCD), using outdated definitions of hoarding, and relying on inadequate assessments of hoarding. The present study is the first large-scale study (n=217) of comorbidity in a sample of people meeting recently proposed criteria for hoarding disorder (1) and relying on validated assessment procedures. The HD sample was compared to 96 participants meeting criteria for OCD without HD. High comorbidity rates were observed for major depressive disorder (MDD) as well as acquisition-related impulse control disorders (compulsive buying, kleptomania, and acquiring free things). Fewer than 20% of HD participants met criteria for OCD, and the rate of OCD in HD was higher for men than women. Rates of MDD and acquisition-related impulse control disorders were higher among HD than OCD participants. No specific anxiety disorder was more frequent in HD, but social phobia was more frequent among men with HD than among men with OCD. Inattentive ADHD was diagnosed in 28% of HD participants and was significantly more frequent than among OCD participants (3%). These findings form important base rates for developing research and treatments for hoarding disorder. PMID:21770000

Laugier–Hunziker syndrome: a report of three cases and literature review

PubMed Central

Wang, Wen-Mei; Wang, Xiang; Duan, Ning; Jiang, Hong-Liu; Huang, Xiao-Feng

2012-01-01

Laugier–Hunziker syndrome (LHS) is an acquired pigmentary condition affecting lips, oral mucosa and acral area, frequently associated with longitudinal melanonychia. There is neither malignant predisposition nor underlying systemic abnormality associated with LHS. Herein, we present three uncommon cases of LHS with possibly new feature of nail pigmentation, which were diagnosed during the past 2 years. We also review the clinical and histological findings, differential diagnosis, and treatment of the syndrome in published literature. PMID:23174847

Perioperative management of patients with congenital or acquired disorders of the QT interval.

PubMed

O'Hare, M; Maldonado, Y; Munro, J; Ackerman, M J; Ramakrishna, H; Sorajja, D

2018-04-01

QT prolongation can be attributable to various causes that can be categorised as acquired or congenital. Arrhythmias related to QT prolongation can result in clinical presentations, such as syncope and sudden cardiac death. The perioperative period presents a number of issues that may affect a patient's risk of developing polymorphic ventricular tachycardia or torsades de pointes. Although most patients may have an unremarkable perioperative course, some may have complications; this review article aims to help clinicians avoid potential complications, and to help them address treatment for perioperative issues that may occur. Copyright © 2018 British Journal of Anaesthesia. Published by Elsevier Ltd. All rights reserved.

Acquired hyperpigmentations*

PubMed Central

Cestari, Tania Ferreira; Dantas, Lia Pinheiro; Boza, Juliana Catucci

2014-01-01

Cutaneous hyperpigmentations are frequent complaints, motivating around 8.5% of all dermatological consultations in our country. They can be congenital, with different patterns of inheritance, or acquired in consequence of skin problems, systemic diseases or secondary to environmental factors. The vast majority of them are linked to alterations on the pigment melanin, induced by different mechanisms. This review will focus on the major acquired hyperpigmentations associated with increased melanin, reviewing their mechanisms of action and possible preventive measures. Particularly prominent aspects of diagnosis and therapy will be emphasized, with focus on melasma, post-inflammatory hyperpigmentation, periorbital pigmentation, dermatosis papulosa nigra, phytophotodermatoses, flagellate dermatosis, erythema dyschromicum perstans, cervical poikiloderma (Poikiloderma of Civatte), acanthosis nigricans, cutaneous amyloidosis and reticulated confluent dermatitis PMID:24626644

Acquired Amino Acid Deficiencies: A Focus on Arginine and Glutamine.

PubMed

Morris, Claudia R; Hamilton-Reeves, Jill; Martindale, Robert G; Sarav, Menaka; Ochoa Gautier, Juan B

2017-04-01

Nonessential amino acids are synthesized de novo and therefore not diet dependent. In contrast, essential amino acids must be obtained through nutrition since they cannot be synthesized internally. Several nonessential amino acids may become essential under conditions of stress and catabolic states when the capacity of endogenous amino acid synthesis is exceeded. Arginine and glutamine are 2 such conditionally essential amino acids and are the focus of this review. Low arginine bioavailability plays a pivotal role in the pathogenesis of a growing number of varied diseases, including sickle cell disease, thalassemia, malaria, acute asthma, cystic fibrosis, pulmonary hypertension, cardiovascular disease, certain cancers, and trauma, among others. Catabolism of arginine by arginase enzymes is the most common cause of an acquired arginine deficiency syndrome, frequently contributing to endothelial dysfunction and/or T-cell dysfunction, depending on the clinical scenario and disease state. Glutamine, an arginine precursor, is one of the most abundant amino acids in the body and, like arginine, becomes deficient in several conditions of stress, including critical illness, trauma, infection, cancer, and gastrointestinal disorders. At-risk populations are discussed together with therapeutic options that target these specific acquired amino acid deficiencies.

[Acquired caustic vagina stenosis: Surgical outcomes of 21 cases].

PubMed

Séni, K; Horo, A G; Koffi, A; Aka, K E; Fomba, M; Koné, M

2016-03-01

To document epidemiology, causes, anatomical varieties and surgical management outcomes of caustic acquired vagina stenosis. Retrospective study of 21 patients involved from 1996 to 2012 at the department of obstetrics and gynecology of Yopougon's teaching hospital in Abidjan, Côte d'Ivoire. Vaginal stenosis due to genital malformation, vaginal irradiation of pelvic tumours, repair of bladder and vaginal fistulae or intersexual disorders were excluded. The prevalence was 0.14/1000 admissions, mean age was 32.1 years, mean gravidity was 1.76 and mean parity was 1.1. Vaginal stenosis seat and extent were variable and 100 % had a caustic origin by use of traditional medicine vaginal pessaire. Of the patients, 95.2 % underwent surgical treatment followed by several dilations sessions with glass dilators. Successful surgical outcome allowing coitus was achieved in 47.6 % of cases with 52.4 % failure. Acquired caustic vagina stenosis are frequently occurring and are a public health problem related to ignorance. Health education and establishment of expert centers with exchange of experiences in West Africa should be able to improve surgical outcomes. Copyright © 2016. Published by Elsevier SAS.

17 CFR 210.8-06 - Real estate operations acquired or to be acquired.

Code of Federal Regulations, 2010 CFR

2010-04-01

... EXCHANGE COMMISSION FORM AND CONTENT OF AND REQUIREMENTS FOR FINANCIAL STATEMENTS, SECURITIES ACT OF 1933..., INVESTMENT ADVISERS ACT OF 1940, AND ENERGY POLICY AND CONSERVATION ACT OF 1975 Article 8 Financial Statements of Smaller Reporting Companies § 210.8-06 Real estate operations acquired or to be acquired. If...

Evolution of language assessment in patients with acquired neurological disorders in Brazil

PubMed Central

Parente, Maria Alice de Mattos Pimenta; Baradel, Roberta Roque; Fonseca, Rochele Paz; Pereira, Natalie; Carthery-Goulart, Maria Teresa

2014-01-01

The objective of this paper was to describe the evolution of language assessments in patients with acquired neurological diseases over a period of around 45 years from 1970, when interdisciplinarity in Neuropsychology first began in Brazil, to the present day. The first twenty years of data was based on memories of Speech Pathology University Professors who were in charge of teaching aphasia. We then show the contributions of Linguistics, Cognitive Psychology, as well as Psycholinguistic and Psychometric criteria, to language evaluation. Finally, the current panorama of adaptations and creations of validated and standardized instruments is given, based on a search of the databases Pubmed, Scopus and Lilacs. Our closing remarks highlight the diversity in evaluation approaches and the recent tendency of language evaluations linked to new technologies such as brain imaging and computational analysis. PMID:29213904

Intracranial hemorrhage after blunt head trauma in children with bleeding disorders.

PubMed

Lee, Lois K; Dayan, Peter S; Gerardi, Michael J; Borgialli, Dominic A; Badawy, Mohamed K; Callahan, James M; Lillis, Kathleen A; Stanley, Rachel M; Gorelick, Marc H; Dong, Li; Zuspan, Sally Jo; Holmes, James F; Kuppermann, Nathan

2011-06-01

To determine computerized tomography (CT) use and prevalence of traumatic intracranial hemorrhage (ICH) in children with and without congenital and acquired bleeding disorders. We compared CT use and ICH prevalence in children with and without bleeding disorders in a multicenter cohort study of 43 904 children <18 years old with blunt head trauma evaluated in 25 emergency departments. A total of 230 children had bleeding disorders; all had Glasgow Coma Scale (GCS) scores of 14 to 15. These children had higher CT rates than children without bleeding disorders and GCS scores of 14 to 15 (risk ratio, 2.29; 95% CI, 2.15 to 2.44). Of the children who underwent imaging with CT, 2 of 186 children with bleeding disorders had ICH (1.1%; 95% CI, 0.1 to 3.8) , compared with 655 of 14 969 children without bleeding disorders (4.4%; 95% CI, 4.1-4.7; rate ratio, 0.25; 95% CI, 0.06 to 0.98). Both children with bleeding disorders and ICHs had symptoms; none of the children required neurosurgery. In children with head trauma, CTs are obtained twice as often in children with bleeding disorders, although ICHs occurred in only 1.1%, and these patients had symptoms. Routine CT imaging after head trauma may not be required in children without symptoms who have congenital and acquired bleeding disorders. Copyright © 2011 Mosby, Inc. All rights reserved.

Corneal endothelial dysfunction in Pearson syndrome.

PubMed

Kasbekar, Shivani A; Gonzalez-Martin, Jose A; Shafiq, Ayad E; Chandna, Arvind; Willoughby, Colin E

2013-01-01

Mitochondrial disorders are associated with well recognized ocular manifestations. Pearson syndrome is an often fatal, multisystem, mitochondrial disorder that causes variable bone marrow, hepatic, renal and pancreatic exocrine dysfunction. Phenotypic progression of ocular disease in a 12-year-old male with Pearson syndrome is described. This case illustrates phenotypic drift from Pearson syndrome to Kearns-Sayre syndrome given the patient's longevity. Persistent corneal endothelial failure was noted in addition to ptosis, chronic external ophthalmoplegia and mid-peripheral pigmentary retinopathy. We propose that corneal edema resulting from corneal endothelial metabolic pump failure occurs within a spectrum of mitochondrial disorders.

7 CFR 926.10 - Acquire.

Code of Federal Regulations, 2011 CFR

2011-01-01

... REQUIREMENTS APPLICABLE TO CRANBERRIES NOT SUBJECT TO THE CRANBERRY MARKETING ORDER § 926.10 Acquire. Acquire means to obtain cranberries by any means whatsoever for the purpose of handling cranberries. Effective...

7 CFR 926.10 - Acquire.

Code of Federal Regulations, 2014 CFR

2014-01-01

... REQUIREMENTS APPLICABLE TO CRANBERRIES NOT SUBJECT TO THE CRANBERRY MARKETING ORDER § 926.10 Acquire. Acquire means to obtain cranberries by any means whatsoever for the purpose of handling cranberries. Effective...

7 CFR 926.10 - Acquire.

Code of Federal Regulations, 2012 CFR

2012-01-01

... REQUIREMENTS APPLICABLE TO CRANBERRIES NOT SUBJECT TO THE CRANBERRY MARKETING ORDER § 926.10 Acquire. Acquire means to obtain cranberries by any means whatsoever for the purpose of handling cranberries. Effective...

7 CFR 926.10 - Acquire.

Code of Federal Regulations, 2013 CFR

2013-01-01

... REQUIREMENTS APPLICABLE TO CRANBERRIES NOT SUBJECT TO THE CRANBERRY MARKETING ORDER § 926.10 Acquire. Acquire means to obtain cranberries by any means whatsoever for the purpose of handling cranberries. Effective...

Swallowing Disorders in Severe Brain Injury in the Arousal Phase.

PubMed

Bremare, A; Rapin, A; Veber, B; Beuret-Blanquart, F; Verin, E

2016-08-01

The objective of this study was to determine the clinical characteristics of swallowing disorders in severe brain injury in the arousal phase after coma. Between December 1, 2013 and June 30, 2014, eleven patients with severe acquired brain injury who were admitted to rehabilitation center (Male 81.8 %; 40.7 ± 14.6 years) were included in the study. Evaluation of swallowing included a functional examination, clinical functional swallowing test, and naso-endoscopic swallowing test. All patients had swallowing disorders at admission. The first functional swallowing test showed oral (77.8 %) and pharyngeal (66.7 %) food bolus transport disorders; and alterations in airway protection mechanisms (80 %). Swallowing test under endoscopic control showed a disorder in swallowing coordination in 55.6 % of patients tested. Seven (63.6 %) patients resumed oral feeding within an average of 6 weeks after admission to rehabilitation center and 14 weeks after acquired brain injury. Six (85.7 %) of these seven patients continued to require modified solid and liquid textures. Swallowing disorders are a major concern in severe brain injury in the arousal phase. Early bedside assessment of swallowing is essential for detection of swallowing disorders to propose appropriate medical rehabilitation care to these patients in a state of altered consciousness.

SLUG (SNAI2) deletions in patients with Waardenburg disease.

PubMed

Sánchez-Martín, Manuel; Rodríguez-García, Arancha; Pérez-Losada, Jesús; Sagrera, Ana; Read, Andrew P; Sánchez-García, Isidro

2002-12-01

Waardenburg syndrome (WS; deafness with pigmentary abnormalities) is a congenital disorder caused by defective function of the embryonic neural crest. Depending on additional symptoms, WS is classified into four types: WS1, WS2, WS3 and WS4. WS1 and WS3 are caused by mutations in PAX3, whereas WS2 is heterogenous, being caused by mutations in the microphthalmia (MITF) gene in some but not all affected families. The identification of Slugh, a zinc-finger transcription factor expressed in migratory neural crest cells, as the gene responsible for pigmentary disturbances in mice prompted us to analyse the role of its human homologue SLUG in neural crest defects. Here we show that two unrelated patients with WS2 have homozygous deletions in SLUG which result in absence of the SLUG product. We further show that Mitf is present in Slug-deficient cells and transactivates the SLUG promoter, and that Slugh and Kit genetically interact in vivo. Our findings further define the locus heterogeneity of WS2 and point to an essential role of SLUG in the development of neural crest-derived human cell lineages: its absence causes the auditory-pigmentary symptoms in at least some individuals with WS2.

Thyroid-related neurological disorders and complications in children.

PubMed

Nandi-Munshi, Debika; Taplin, Craig E

2015-04-01

Thyroid hormones exert critical roles throughout the body and play an important and permissive role in neuroendocrine, neurological, and neuromuscular function. We performed a PubMed search through June 2014 with search terms including "hypothyroidism," "hyperthyroidism," "neurological complications," "neuropathy," "myopathy," "congenital hypothyroidism," and "encephalopathy." Relevant publications reviewed included case series, individual case reports, systematic reviews, retrospective analyses, and randomized controlled trials. The neurological outcomes of congenital hypothyroidism were reviewed, along with the clinical features of associated neuromuscular syndromes of both hypothyroidism and hyperthyroidism, including other autoimmune conditions. Evidence for, and pathophysiological controversies surrounding, Hashimoto encephalopathy was also reviewed. The establishment of widespread newborn screening programs has been highly successful in attenuating or preventing early and irreversible neurological harm resulting from congenital thyroid hormone deficiency, but some children continue to display neuromuscular, sensory, and cognitive defects in later life. Acquired disorders of thyroid function such as Hashimoto thyroiditis and Graves' disease are associated with a spectrum of central nervous system and/or neuromuscular dysfunction. However, considerable variation in clinical phenotype is described, and much of our knowledge of the role of thyroid disease in childhood neurological disorders is derived from adult case series. Early and aggressive normalization of thyroxine levels in newborn infants with congenital hypothyroidism is important in minimizing neurological sequelae, but maternal thyroid hormone sources are also critically important to the early developing brain. A spectrum of neurological disorders has been reported in older children with acquired thyroid disease, but the frequency with which these occur remains poorly defined in the literature, and

Acquired simulated brown syndrome following surgical repair of medial orbital wall fracture.

PubMed

Hwang, Jong-uk; Lim, Hyun Taek

2005-03-01

Simulated Brown syndrome is a term applied to a myriad of disorders that cause a Brown syndrome-like motility. We encountered a case of acquired simulated Brown syndrome in a 41-year-old man following surgical repair of fractures of both medial orbital walls. He suffered from diplopia in primary gaze, associated with hypotropia of the affected eye. We performed an ipsilateral recession of the left inferior rectus muscle as a single-stage intraoperative adjustment procedure under topical anesthesia, rather than the direct approach to the superior oblique tendon. Postoperatively, the patient was asymptomatic in all diagnostic gaze positions.

[Gender as a key effect modifier of the relationship between physician work stressors and the acquired cardiovascular disorders].

PubMed

Nedić, Olesja; Belkić, Karen; Filipović, Danka; Jocić, Neda

2008-01-01

To assess gender as an effect-modifier vis-â-vis exposure to work stressors and the acquired cardiovascular disorders (ACVDC). The Occupational Stress Index for physicians was used in a case-control study (>90% participation rate) among physicians in Novi Sad (Cases: 50 males and 51 females with ACVD, Referents: 46 males and 6l females without ACVD). Patterns of disease manifestation, sociodemography, risk factors, Minnesota Multiphasic Personality Inventory (MMPI) tendency and exposure to work stressors differed in male compared to female physicians with ACVD. Accounting for these covariates, the males with ACVD had significantly higher general-level threat avoidance vigilance scores (more witnessed accidents at work and expert-witnessing in court (p < 0.0l)). Female physicians with ACVD had higher general-level underload (more fixed pay) and strictness (more limited decision-making concerning work-schedules and institutional policies) (p < 0.05). In stratified analysis, the relationship between working conditions and ACVD was most apparent among the women physicians. Compared to those without ACVD, female physicians with ACVD showed higher extrinsic time-pressure (speed-up (p < 0.01)), threat of job loss (p < 0.05), and elements of high demand (heterogeneous information, complex and heterogeneous task performance) (p < 0.05)), after accounting for covariates. Females in the surgical care specialties with ACVD were exposed to significantly higher demands, speed-up, and need for constant high attention than their female colleagues without ACVD, after accounting for covariates. Gender is a key effect-modifier of the relationship between exposure to work stressors and ACVD among physicians. Intervention studies should consider gender-specific work stressors, as well as those specific to physicians.

Life after acquired thrombotic thrombocytopenic purpura: morbidity, mortality, and risks during pregnancy.

PubMed

Vesely, S K

2015-06-01

Patients who have recovered from their acute episode of acquired ADAMTS13-deficient thrombotic thrombocytopenic purpura (TTP) were once thought to have complete recovery except for risk of relapse. Data from previous publications from the Oklahoma TTP-hemolytic uremic syndrome (HUS) Registry are summarized. Patients have decreased cognitive function and increased prevalence of hypertension, systemic lupus erythematosus, major depression, and albuminuria as compared to the expected values from the US population. The proportion of patients that died during the follow-up period was greater than expected based on the US population reference population. Among women who had a pregnancy following recovery from TTP, relapse during pregnancy or postpartum is uncommon, but the occurrence of preeclampsia may be increased. Thirteen of 16 pregnancies in these women resulted in healthy children. Increased morbidity and mortality in TTP patients following recovery suggest that TTP may be more of a chronic disorder than a disorder with acute episodes and complete recovery. © 2015 International Society on Thrombosis and Haemostasis.

Neural Correlates of Phonological Processing in Speech Sound Disorder: A Functional Magnetic Resonance Imaging Study

ERIC Educational Resources Information Center

Tkach, Jean A.; Chen, Xu; Freebairn, Lisa A.; Schmithorst, Vincent J.; Holland, Scott K.; Lewis, Barbara A.

2011-01-01

Speech sound disorders (SSD) are the largest group of communication disorders observed in children. One explanation for these disorders is that children with SSD fail to form stable phonological representations when acquiring the speech sound system of their language due to poor phonological memory (PM). The goal of this study was to examine PM in…

[Acquired dyslexias and dysgraphias under the prism of cognitive neuropsychology: a model for the Spanish language].

PubMed

Böhm, P; Diéguez-Vide, F; Peña-Casanova, J; Tainturier, M J; Lecours, A R

2000-02-01

The present paper discusses the different clinical manifestations of acquired disorders of reading and writing from a neurocognitive viewpoint. Based on a specific functional architecture of reading and writing--a cognitive model; presented as well--the different syndromes of acquired dyslexias and dysgraphias, that have been described in the specialized literature during the last 25 years, will be reviewed. The different pathologies are distributed along three different functional axes: a plurimodal component, including the semantic system, for the description of peripheric disorders of reading and writing; a lexical block which is justified by the findings in patients with surface dyslexia/dysgraphia; and a third, sublexical component, in order to illustrate the different functional impairments in phonological dyslexia/dysgraphia. Following the description of syndromes due to selective "functional lesions", we discuss deep dyslexia/dysgraphia, a syndrome due to multiple functional lesions. All of the syndromes will be justified and discussed with respect to the different components of the functional architecture presented and are based on cases of the literature and personal observations. Concluding remarks will evaluate the new insights gained by the presented functional arquitecture in relation to other cognitive models for the analysis of reading aloud and writing to dictation of single words.

7 CFR 926.10 - Acquire.

Code of Federal Regulations, 2010 CFR

2010-01-01

... of the Department of Agriculture (Continued) AGRICULTURAL MARKETING SERVICE (Marketing Agreements and... REQUIREMENTS APPLICABLE TO CRANBERRIES NOT SUBJECT TO THE CRANBERRY MARKETING ORDER § 926.10 Acquire. Acquire means to obtain cranberries by any means whatsoever for the purpose of handling cranberries. Effective...

Acquired Thrombotic Thrombocytopenic Purpura in a Patient with Pernicious Anemia.

PubMed

Pandey, Ramesh Kumar; Dahal, Sumit; Fadlalla, Kamal Fadlalla El Jack; Bhagat, Shambhu; Bhattarai, Bikash

2017-01-01

Introduction . Acquired thrombotic thrombocytopenic purpura (TTP) has been associated with different autoimmune disorders. However, its association with pernicious anemia is rarely reported. Case Report . A 46-year-old male presented with blood in sputum and urine for one day. The vitals were stable. The physical examination was significant for icterus. Lab tests' results revealed leukocytosis, macrocytic anemia, severe thrombocytopenia, renal dysfunction, and unconjugated hyperbilirubinemia. He had an elevated LDH, low haptoglobin levels with many schistocytes, nucleated RBCs, and reticulocytes on peripheral smear. Low ADAMTS13 activity (<10%) with elevated ADAMTS13 antibody clinched the diagnosis of severe acquired TTP, and plasmapheresis was started. There was an initial improvement in his hematological markers, which were however not sustained on discontinuation of plasmapheresis. For his refractory TTP, he was resumed on daily plasmapheresis and Rituximab was started. Furthermore, the initial serum Vitamin B12 and reticulocyte index were low in the presence of anti-intrinsic factor antibody. So with the concomitant diagnosis of pernicious anemia, Vitamin B12 was supplemented. The rest of the immunological workups were negative. Subsequently, his symptoms resolved and his hematological parameters improved. Discussion . While pernicious anemia can masquerade as TTP, an actual association between the two can also occur and needs further evaluation and characterization.

Acquired Thrombotic Thrombocytopenic Purpura in a Patient with Pernicious Anemia

PubMed Central

Bhagat, Shambhu

2017-01-01

Introduction. Acquired thrombotic thrombocytopenic purpura (TTP) has been associated with different autoimmune disorders. However, its association with pernicious anemia is rarely reported. Case Report. A 46-year-old male presented with blood in sputum and urine for one day. The vitals were stable. The physical examination was significant for icterus. Lab tests' results revealed leukocytosis, macrocytic anemia, severe thrombocytopenia, renal dysfunction, and unconjugated hyperbilirubinemia. He had an elevated LDH, low haptoglobin levels with many schistocytes, nucleated RBCs, and reticulocytes on peripheral smear. Low ADAMTS13 activity (<10%) with elevated ADAMTS13 antibody clinched the diagnosis of severe acquired TTP, and plasmapheresis was started. There was an initial improvement in his hematological markers, which were however not sustained on discontinuation of plasmapheresis. For his refractory TTP, he was resumed on daily plasmapheresis and Rituximab was started. Furthermore, the initial serum Vitamin B12 and reticulocyte index were low in the presence of anti-intrinsic factor antibody. So with the concomitant diagnosis of pernicious anemia, Vitamin B12 was supplemented. The rest of the immunological workups were negative. Subsequently, his symptoms resolved and his hematological parameters improved. Discussion. While pernicious anemia can masquerade as TTP, an actual association between the two can also occur and needs further evaluation and characterization. PMID:28473932

Acquired word deafness, and the temporal grain of sound representation in the primary auditory cortex.

PubMed

Phillips, D P; Farmer, M E

1990-11-15

This paper explores the nature of the processing disorder which underlies the speech discrimination deficit in the syndrome of acquired word deafness following from pathology to the primary auditory cortex. A critical examination of the evidence on this disorder revealed the following. First, the most profound forms of the condition are expressed not only in an isolation of the cerebral linguistic processor from auditory input, but in a failure of even the perceptual elaboration of the relevant sounds. Second, in agreement with earlier studies, we conclude that the perceptual dimension disturbed in word deafness is a temporal one. We argue, however, that it is not a generalized disorder of auditory temporal processing, but one which is largely restricted to the processing of sounds with temporal content in the milliseconds to tens-of-milliseconds time frame. The perceptual elaboration of sounds with temporal content outside that range, in either direction, may survive the disorder. Third, we present neurophysiological evidence that the primary auditory cortex has a special role in the representation of auditory events in that time frame, but not in the representation of auditory events with temporal grains outside that range.

Community-acquired pneumonia.

PubMed

Falguera, M; Ramírez, M F

2015-11-01

This article not only reviews the essential aspects of community-acquired pneumonia for daily clinical practice, but also highlights the controversial issues and provides the newest available information. Community-acquired pneumonia is considered in a broad sense, without excluding certain variants that, in recent years, a number of authors have managed to delineate, such as healthcare-associated pneumonia. The latter form is nothing more than the same disease that affects more frail patients, with a greater number of risk factors, both sharing an overall common approach. Copyright © 2015 Elsevier España, S.L.U. y Sociedad Española de Medicina Interna (SEMI). All rights reserved.

Molecular Etiology of Hereditary Single-Side Deafness

PubMed Central

Kim, Shin Hye; Kim, Ah Reum; Choi, Hyun Seok; Kim, Min Young; Chun, Eun Hi; Oh, Seung-Ha; Choi, Byung Yoon

2015-01-01

Abstract Unilateral sensorineural hearing loss (USNHL)/single-side deafness (SSD) is a frequently encountered disability in children. The etiology of a substantial portion of USNHL/SSD still remains unknown, and genetic causes have not been clearly elucidated. In this study, the authors evaluated the heritability of USNHL/SSD. The authors sequentially recruited 50 unrelated children with SSD. For an etiologic diagnosis, we performed a rigorous review on the phenotypes of family members of all children and conducted, if necessary, molecular genetic tests including targeted exome sequencing of 129 deafness genes. Among the 50 SSD children cohort, the authors identify 4 (8%) unrelated SSD probands from 4 families (SH136, SB173, SB177, and SB199) with another hearing impaired family members. Notably, all 4 probands in our cohort with a familial history of SSD also have pigmentary abnormalities such as brown freckles or premature gray hair within first degree relatives, which may indicate that genes whose products are involved with pigmentary disorder could be candidates for heritable SSD. Indeed, SH136 and SB199 turned out to segregate a mutation in MITF and PAX3, respectively, leading to a molecular diagnosis of Waardenburg syndrome (WS). We report, for the first time in the literature, a significant heritability of pediatric SSD. There is a strong association between the heritability of USNHL/SSD and the pigmentary abnormality, shedding a new light on the understanding of the molecular basis of heritable USNHL/SSD. In case of children with congenital SSD, it would be mandatory to rigorously screen pigmentary abnormalities. WS should also be included in the differential diagnosis of children with USNHL/SSD, especially in a familial form. PMID:26512583

Optimal management of common acquired melanocytic nevi (moles): current perspectives

PubMed Central

Sardana, Kabir; Chakravarty, Payal; Goel, Khushbu

2014-01-01

Although common acquired melanocytic nevi are largely benign, they are probably one of the most common indications for cosmetic surgery encountered by dermatologists. With recent advances, noninvasive tools can largely determine the potential for malignancy, although they cannot supplant histology. Although surgical shave excision with its myriad modifications has been in vogue for decades, the lack of an adequate histological sample, the largely blind nature of the procedure, and the possibility of recurrence are persisting issues. Pigment-specific lasers were initially used in the Q-switched mode, which was based on the thermal relaxation time of the melanocyte (size 7 μm; 1 μsec), which is not the primary target in melanocytic nevus. The cluster of nevus cells (100 μm) probably lends itself to treatment with a millisecond laser rather than a nanosecond laser. Thus, normal mode pigment-specific lasers and pulsed ablative lasers (CO2/erbium [Er]:yttrium aluminum garnet [YAG]) are more suited to treat acquired melanocytic nevi. The complexities of treating this disorder can be overcome by following a structured approach by using lasers that achieve the appropriate depth to treat the three subtypes of nevi: junctional, compound, and dermal. Thus, junctional nevi respond to Q-switched/normal mode pigment lasers, where for the compound and dermal nevi, pulsed ablative laser (CO2/Er:YAG) may be needed. If surgical excision is employed, a wide margin and proper depth must be ensured, which is skill dependent. A lifelong follow-up for recurrence and melanoma is warranted in predisposed individuals, although melanoma is decidedly uncommon in most acquired melanocytic nevi, even though histological markers may be seen on evaluation. PMID:24672253

Dysphagia associated with cervical spine and postural disorders.

PubMed

Papadopoulou, Soultana; Exarchakos, Georgios; Beris, Alexander; Ploumis, Avraam

2013-12-01

Difficulties with swallowing may be both persistent and life threatening for the majority of those who experience it irrespective of age, gender, and race. The purpose of this review is to define oropharyngeal dysphagia and describe its relationship to cervical spine disorders and postural disturbances due to either congenital or acquired disorders. The etiology and diagnosis of dysphagia are analyzed, focusing on cervical spine pathology associated with dysphagia as severe cervical spine disorders and postural disturbances largely have been held accountable for deglutition disorders. Scoliosis, kyphosis–lordosis, and osteophytes are the primary focus of this review in an attempt to elucidate the link between cervical spine disorders and dysphagia. It is important for physicians to be knowledgeable about what triggers oropharyngeal dysphagia in cases of cervical spine and postural disorders. Moreover, the optimum treatment for dysphagia, including the use of therapeutic maneuvers during deglutition, neck exercises, and surgical treatment, is discussed.

Hospital-acquired pneumonia

MedlinePlus

... pneumonia; HCAP Patient Instructions Pneumonia in adults - discharge Images Hospital-acquired pneumonia Respiratory system References Chastre J, Luyt C-E. Ventilator-associated pneumonia. In: Broaddus ...

Inherited and acquired thrombophilia in Indian women experiencing unexplained recurrent pregnancy loss.

PubMed

Patil, Rucha; Ghosh, Kanjaksha; Vora, Sonal; Shetty, Shrimati

2015-10-01

The most frequently hypothesized cause of unexplained recurrent pregnancy loss (RPL) refers to a defective maternal haemostatic response leading to uteroplacental thrombosis. Approximately 20% women suffering from pregnancy loss (PL) are associated with autoimmune disorders and more than 50% remain idiopathic after common traditional investigations. The present study aims to investigate the prevalence of different genetic and acquired thrombophilia markers in a large series of Indian women with RPL. Such studies will help analyze the markers which pose maximum risk and help in the appropriate treatment in subsequent pregnancies. The study comprised of 587 women with no apparent etiological causes of RPL and 115 healthy women controls. p values were calculated with two tailed Fisher's exact test; statistical significance was assumed at p<0.05, 95% confidence interval. Relative risks were also calculated. Among genetic thrombophilia, the risk of PL was highest with protein S deficiency (16%, p=0.006) followed by plasminogen activator inhibitor-1 4G/4G (23%, p=0.007) polymorphism. Among acquired markers, the risk of PL was the highest in women with anti-cardiolipin antibodies (24%, p=0.0001), followed by anti-annexin V antibodies (23%, p=0.0009) and lupus anticoagulants (8%, p=0.02). Thrombophilia, inherited and acquired, is an important contributing factor in unexplained RPL and should be screened in the order of its prevalence. Copyright © 2015 Elsevier Inc. All rights reserved.

Promoting Adaptive Behavior in Persons with Acquired Brain Injury, Extensive Motor and Communication Disabilities, and Consciousness Disorders

ERIC Educational Resources Information Center

Lancioni, Giulio E.; Singh, Nirbhay N.; O'Reilly, Mark F.; Sigafoos, Jeff; Belardinelli, Marta Olivetti; Buonocunto, Francesca; Sacco, Valentina; Navarro, Jorge; Lanzilotti, Crocifissa; De Tommaso, Marina; Megna, Marisa; Badagliacca, Francesco

2012-01-01

These two studies extended the evidence on the use of technology-based intervention packages to promote adaptive behavior in persons with acquired brain injury and multiple disabilities. Study I involved five participants in a minimally conscious state who were provided with intervention packages based on specific arrangements of optic, tilt, or…

Intact implicit statistical learning in borderline personality disorder.

PubMed

Unoka, Zsolt; Vizin, Gabriella; Bjelik, Anna; Radics, Dóra; Nemeth, Dezso; Janacsek, Karolina

2017-09-01

Wide-spread neuropsychological deficits have been identified in borderline personality disorder (BPD). Previous research found impairments in decision making, declarative memory, working memory and executive functions; however, no studies have focused on implicit learning in BPD yet. The aim of our study was to investigate implicit statistical learning by comparing learning performance of 19 BPD patients and 19 healthy, age-, education- and gender-matched controls on a probabilistic sequence learning task. Moreover, we also tested whether participants retain the acquired knowledge after a delay period. To this end, participants were retested on a shorter version of the same task 24h after the learning phase. We found intact implicit statistical learning as well as retention of the acquired knowledge in this personality disorder. BPD patients seem to be able to extract and represent regularities implicitly, which is in line with the notion that implicit learning is less susceptible to illness compared to the more explicit processes. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

Children Acquire Emotion Categories Gradually

ERIC Educational Resources Information Center

Widen, Sherri C.; Russell, James A.

2008-01-01

Some accounts imply that basic-level emotion categories are acquired early and quickly, whereas others imply that they are acquired later and more gradually. Our study examined this question for fear, happiness, sadness, and anger in the context of children's categorization of emotional facial expressions. Children (N=168, 2-5 years) first labeled…

Ensuring the profitability of acquired physician practices.

PubMed

Ortiz, J P

1997-01-01

Healthcare organizations are aggressively acquiring physician group practices to create primary care networks and broaden their managed care market penetration. However, few are realizing a positive return on investment after acquisition. The odds that acquired practices will be profitable can be improved if healthcare organizations plan carefully by establishing separate acquiring entities, setting clear goals for the practices, forming skilled management teams with strong physician leadership to manage the acquired practices, and carefully structuring their physician incentive compensation plans.

The efficacy of rituximab in the treatment of inhibitor-associated hemostatic disorders.

PubMed

Franchini, Massimo; Veneri, Dino; Lippi, Giuseppe; Stenner, Rachel

2006-08-01

Rituximab is a chimeric anti-CD20 monoclonal antibody active against normal and malignant B cells which has proven to be effective in the therapy of CD-20 positive lymphomas. Its B-cell cytotoxic action has also been exploited in many non-malignant autoimmune disorders in which it has been used with the aim of interfering with the production of pathologic antibodies. The present knowledge regarding the use of rituximab in antibody-associated disorders of hemostasis (i.e. idiopathic thrombocytopenic purpura, thrombotic thrombocytopenic purpura, acquired hemophilia A, congenital hemophilia with inhibitors, acquired inhibitors against coagulation factors) is presented briefly in this review. The results suggest that rituximab can be useful in the treatment of disorders of hemostasis associated with inhibitor formation. Although collectively the number of patients treated is now quite substantial, most of the data are drawn from isolated case reports or descriptions of small, uncontrolled series. Large, prospective, randomized trials are, therefore, needed to confirm the positive, preliminary results.

Cognitive and academic achievement changes associated with day hospital rehabilitation in children with acquired brain injury.

PubMed

Goldstein, Gerald; Mayfield, Joan; Thaler, Nicholas S; Walker, Jon; Allen, Daniel N

2018-01-01

An evaluation was made of the outcome of a day hospital rehabilitation program for children who experienced an acquired neurological illness, mainly traumatic brain injury. Participants were administered neuropsychological and academic evaluations upon entry to the program, immediately upon discharge and several months after discharge Repeated measures ANOVA results for variables selected from the Reynolds Intellectual Assessment and the Delis-Kaplan Executive Function System found that comparisons showed significant (≥p < .01) improvement occurred between the first and second assessment, generally with large effect sizes. There were some nonsignificant decrements in performance between the discharge and follow-up assessments. A correlational analysis showed that while the association between cognitive function and academic achievement was robust, correlation coefficients did not differ in strength before and following rehabilitation. The study demonstrates significant improvement in children with acquired neurological disorders following rehabilitation.

An update on acquired nystagmus.

PubMed

Rucker, Janet C

2008-01-01

Proper evaluation and treatment of acquired nystagmus requires accurate characterization of nystagmus type and visual effects. This review addresses important historical and examination features of nystagmus and current concepts of pathogenesis and treatment of gaze-evoked nystagmus, nystagmus due to vision loss, acquired pendular nystagmus, peripheral and central vestibular nystagmus, and periodic alternating nystagmus.

48 CFR 1845.502-70 - Contractor-acquired property.

Code of Federal Regulations, 2010 CFR

2010-10-01

... 48 Federal Acquisition Regulations System 6 2010-10-01 2010-10-01 true Contractor-acquired... Possession of Contractors 1845.502-70 Contractor-acquired property. All contractor-acquired property must be... contractor-acquired. (2) Submission of DD Form 1419, DOD Industrial Plant Requisition, or equivalent format...

Clinical assessment of decision-making capacity in acquired brain injury with personality change.

PubMed

Owen, Gareth S; Freyenhagen, Fabian; Martin, Wayne; David, Anthony S

2017-01-01

Assessment of decision-making capacity (DMC) can be difficult in acquired brain injury (ABI) particularly with the syndrome of organic personality disorder (OPD) (the "frontal lobe syndrome"). Clinical neuroscience may help but there are challenges translating its constructs to the decision-making abilities considered relevant by law and ethics. An in-depth interview study of DMC in OPD was undertaken. Six patients were purposefully sampled and rich interview data were acquired for scrutiny using interpretative phenomenological analysis. Interview data revealed that awareness of deficit and thinking about psychological states can be present. However, the awareness of deficit may not be "online" and effectively integrated into decision-making. Without this online awareness of deficit the ability to appreciate or use and weigh information in the process of deciding some matters appeared absent. We argue that the decision-making abilities discussed are: (1) necessary for DMC, (2) threatened by ABI , and (3) assessable at interview. Some advice for practically incorporating these abilities within assessments of DMC in patients with OPD is outlined.

5-HT receptors as novel targets for optimizing pigmentary responses in dorsal skin melanophores of frog, Hoplobatrachus tigerinus

PubMed Central

Ali, Sharique A; Salim, Saima; Sahni, Tarandeep; Peter, Jaya; Ali, Ayesha S

2012-01-01

BACKGROUND AND PURPOSE Biochemical identification of 5-HT has revealed similar projection patterns across vertebrates. In CNS, 5-HT regulates major physiological functions but its peripheral functions are still emerging. The pharmacology of 5-HT is mediated by a diverse range of receptors that trigger different responses. Interestingly, 5-HT receptors have been detected in pigment cells indicating their role in skin pigmentation. Hence, we investigated the role of this monoaminergic system in amphibian pigment cells, melanophores, to further our understanding of its role in pigmentation biology together with its evolutionary significance. EXPERIMENTAL APPROACH Pharmacological profiling of 5-HT receptors was achieved using potent/selective agonists and antagonists. In vitro responses of melanophores were examined by Mean Melanophores Size Index assay. The melanophores of lower vertebrates are highly sensitive to external stimuli. The immediate cellular responses to drugs were defined in terms of pigment translocation within the cells. KEY RESULTS 5-HT exerted strong concentration-dependent pigment dispersion at threshold dose of 1 × 10−6 g·mL−1. Specific 5-HT1 and 5-HT2 receptor agonists, sumatriptan and myristicin. also induced dose-dependent dispersion. Yohimbine and metergoline synergistically antagonized sumatriptan-mediated dispersion, whereas trazodone partially blocked myristicin-induced dispersion. Conversely, 5-HT3 and 5-HT4 receptor agonists, 1 (3 chlorophenyl) biguanide (1,3 CPB) and 5-methoxytryptamine (5-MT), caused a dose-dependent pigment aggregation. The aggregatory effect of 1,3 CPB was completely blocked by ondansetron, whereas L-lysine partially blocked the effect of 5-MT. CONCLUSIONS AND IMPLICATIONS The results suggest that 5-HT-induced physiological effects are mediated via distinct classes of receptors, which possibly participate in the modulation of pigmentary responses in amphibian. PMID:21880033

Challenges and open issues in the management of acquired hemophilia A (AHA).

PubMed

Shetty, Shrimati D; Ghosh, Kanjaksha

2015-03-01

Acquired hemophilia A (AHA) is a rare autoimmune bleeding disorder caused by antibodies which neutralize the function of factor VIII (FVIII). The disease presents a complex clinical challenge to the treating Physicians and Hematologists. As the disease is associated with high mortality, prompt management is necessary. Early recognition, quick diagnosis and timely referral to a specialized center are important for better management of these patients. The different clinical manifestations, underlying pathology, inhibitor kinetics and the associated age related comorbidities do not allow extrapolation of the treatment protocols of congenital hemophilia to AHA. The basic strategies of the management of AHA patients involve maintaining hemostasis, suppression or eradication of antibodies, diagnosis and treatment of underlying pathology and avoid treatment related complications like thrombosis. The efficiency of hemostatic agents which are generally used to treat AHA is unpredictable. Due to the rarity of the disease, there are no randomized clinical trials on the management of this disorder and thus the expertise and experience of the treating Physicians' guide treatment strategies. Copyright © 2014 Elsevier Inc. All rights reserved.

Children with Anxiety Disorders: Use of a Cognitive Behavioral Therapy Model within a Social Milieu

ERIC Educational Resources Information Center

Kearny, Regina; Pawlukewicz, Justine; Guardino, Mary

2014-01-01

Because anxiety is the most common mental health disorder diagnosed in children, early intervention is crucial for fundamental coping. Although cognitive-behavioral therapy (CBT) is the preferred treatment method for this affective disorder, instruction for children needs to be specific for them to successfully acquire and implement essential CBT…

Diseases and disorders of muscle.

PubMed

Pearson, A M; Young, R B

1993-01-01

Muscle may suffer from a number of diseases or disorders, some being fatal to humans and animals. Their management or treatment depends on correct diagnosis. Although no single method may be used to identify all diseases, recognition depends on the following diagnostic procedures: (1) history and clinical examination, (2) blood biochemistry, (3) electromyography, (4) muscle biopsy, (5) nuclear magnetic resonance, (6) measurement of muscle cross-sectional area, (7) tests of muscle function, (8) provocation tests, and (9) studies on protein turnover. One or all of these procedures may prove helpful in diagnosis, but even then identification of the disorder may not be possible. Nevertheless, each of these procedures can provide useful information. Among the most common diseases in muscle are the muscular dystrophies, in which the newly identified muscle protein dystrophin is either absent or present at less than normal amounts in both Duchenne and Becker's muscular dystrophy. Although the identification of dystrophin represents a major breakthrough, treatment has not progressed to the experimental stage. Other major diseases of muscle include the inflammatory myopathies and neuropathies. Atrophy and hypertrophy of muscle and the relationship of aging, exercise, and fatigue all add to our understanding of the behavior of normal and abnormal muscle. Some other interesting related diseases and disorders of muscle include myasthenia gravis, muscular dysgenesis, and myclonus. Disorders of energy metabolism include those caused by abnormal glycolysis (Von Gierke's, Pompe's, Cori-Forbes, Andersen's, McArdle's, Hers', and Tauri's diseases) and by the acquired diseases of glycolysis (disorders of mitochondrial oxidation). Still other diseases associated with abnormal energy metabolism include lipid-related disorders (carnitine and carnitine palmitoyl-transferase deficiencies) and myotonic syndromes (myotonia congenita, paramyotonia congenita, hypokalemic and hyperkalemic

Combining neuropsychological and cognitive-behavioral approaches for treating psychological sequelae of acquired brain injury.

PubMed

Doering, Bettina; Exner, Cornelia

2011-03-01

Acquired brain injury (ABI) does not only result in physical and cognitive impairments, but may also entail behavioral-emotional difficulties and mental disorders. Although neuropsychological approaches target the rehabilitation of cognitive deficits, the treatment of emotional and behavioral sequelae has received less consideration. This review argues for the integration of cognitive-behavioral approaches into the rehabilitation process and examines respective recent research. Cognitive-behavioral interventions have been investigated in the treatment of behavioral disturbances and mental disorders after ABI. They have also been targeted at supporting adaptive coping with chronic injury-related impairments. Problem-solving approaches of cognitive behavioral therapy may work as meta-models or framework for the rehabilitative process. Unfortunately, most studies reviewed employed methodologically weak designs, which limit convincing conclusions. Still, positive intervention effects have been demonstrated concerning specific outcome measures. Whether these changes also translate into increased psychosocial functioning or quality of life remains unclear. Methodologically sound evidence for cognitive-behavioral interventions after ABI is limited, but preliminary results support the effectiveness of these interventions in the treatment of behavioral disorders and emotional disturbances after ABI. Integrating neuropsychological and cognitive-behavioral approaches may therefore prove beneficial to the rehabilitation process.

Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus.

PubMed

Tüysüz, Beyhan; Collin, Anna; Arapoğlu, Müjde; Suyugül, Nezir

2009-10-01

Waardenburg-Shah syndrome (Waardenburg syndrome type IV-WS4) is an auditory-pigmentary disorder that combines clinical features of pigmentary abnormalities of the skin, hair and irides, sensorineural hearing loss, and Hirschsprung disease (HSCR). Mutations in the endothelin-B receptor (EDNRB) gene on 13q22 have been found to cause this syndrome. Mutations in both alleles cause the full phenotype, while heterozygous mutations cause isolated HSCR or HSCR with minor pigmentary anomalies and/or sensorineural deafness. We investigated the status of the EDNRB gene, by FISH analysis, in three patients with de novo proximal 13q deletions detected at cytogenetic analysis and examined the clinical variability of WS4 among these patients. Chromosome 13q was screened with locus specific FISH probes and breakpoints were determined at 13q22.1q31.3 in Patients 1 and 3, and at 13q21.1q31.3 in Patient 2. An EDNRB specific FISH probe was deleted in all three patients. All patients had common facial features seen in proximal 13q deletion syndrome and mild mental retardation. However, findings related to WS4 were variable; Patient 1 had hypopigmentation of the irides and HSCR, Patient 2 had prominent bicolored irides and mild bilateral hearing loss, and Patient 3 had only mild unilateral hearing loss. These data contribute new insights into the pathogenesis of WS4.

Immunoglobulin G4-related acquired hemophilia: A case report

PubMed Central

Li, Xiaoyan; Duan, Wei; Zhu, Xiang; Xu, Jianying

2016-01-01

Acquired hemophilia A (AHA) is a relatively rare and life-threatening bleeding disorder whose pathogenesis is not completely understood. The present study reports a rare case of immunogubulin (IgG)4-related AHA with multisystemic involvement. A 55-year old male patient presented with symptoms of bronchial asthma and multiple subdermal hematomas. Chest computed tomography showed multiple diffuse nodular lesions with thickening of bronchovascular bundles, and scattered high-density spots in both lung lobes. Laboratory investigations showed increased activated partial prothrombin time (120.0 sec), a markedly decreased factor VIII (FVIII) activity (0.5%), a high-titer of FVIII inhibitor (27.2 Bethesda units/ml) and a marked increase in serum IgG4 (>4.03 g/l) level. Left inguinal lymph node biopsy revealed capsular thickening with marked lymphoplasmacytic infiltration, occlusive phlebitis and irregular fibrosis. Immunostaining revealed numerous IgG4-positive plasma cells (>100 cells/human plasma fibronectin) in the nodular lesions, with an IgG4/IgG ratio of >40%. The symptoms were markedly alleviated following corticosteroid therapy. The current study presents the first reported case of a rare IgG4-related AHA that presented with unusual clinical features and multisystemic involvement. The patient responded well to corticosteroid therapy. Documentation of such rare cases will help in characterizing the pathogenesis, and prompt recognition and timely treatment of this rare disorder. PMID:28105131

Aligned nanofibrillar collagen scaffolds - Guiding lymphangiogenesis for treatment of acquired lymphedema.

PubMed

Hadamitzky, Catarina; Zaitseva, Tatiana S; Bazalova-Carter, Magdalena; Paukshto, Michael V; Hou, Luqia; Strassberg, Zachary; Ferguson, James; Matsuura, Yuka; Dash, Rajesh; Yang, Phillip C; Kretchetov, Shura; Vogt, Peter M; Rockson, Stanley G; Cooke, John P; Huang, Ngan F

2016-09-01

Secondary lymphedema is a common disorder associated with acquired functional impairment of the lymphatic system. The goal of this study was to evaluate the therapeutic efficacy of aligned nanofibrillar collagen scaffolds (BioBridge) positioned across the area of lymphatic obstruction in guiding lymphatic regeneration. In a porcine model of acquired lymphedema, animals were treated with BioBridge scaffolds, alone or in conjunction with autologous lymph node transfer as a source of endogenous lymphatic growth factor. They were compared with a surgical control group and a second control group in which the implanted BioBridge was supplemented with exogenous vascular endothelial growth factor-C (VEGF-C). Three months after implantation, immunofluorescence staining of lymphatic vessels demonstrated a significant increase in lymphatic collectors within close proximity to the scaffolds. To quantify the functional impact of scaffold implantation, bioimpedance was used as an early indicator of extracellular fluid accumulation. In comparison to the levels prior to implantation, the bioimpedance ratio was significantly improved only in the experimental BioBridge recipients with or without lymph node transfer, suggesting restoration of functional lymphatic drainage. These results further correlated with quantifiable lymphatic collectors, as visualized by contrast-enhanced computed tomography. They demonstrate the therapeutic potential of BioBridge scaffolds in secondary lymphedema. Copyright © 2016 Elsevier Ltd. All rights reserved.

Evidence and Considerations in the Application of Chemical Peels in Skin Disorders and Aesthetic Resurfacing

PubMed Central

Berson, Diane S.; Cohen, Joel L.; Roberts, Wendy E.; Starker, Isaac; Wang, Beatrice

2010-01-01

Chemical peeling is a popular, relatively inexpensive, and generally safe method for treatment of some skin disorders and to refresh and rejuvenate skin. This article focuses on chemical peels and their use in routine clinical practice. Chemical peels are classified by the depth of action into superficial, medium, and deep peels. The depth of the peel is correlated with clinical changes, with the greatest change achieved by deep peels. However, the depth is also associated with longer healing times and the potential for complications. A wide variety of peels are available, utilizing various topical agents and concentrations, including a recent salicylic acid derivative, β-lipohydroxy acid, which has properties that may expand the clinical use of peels. Superficial peels, penetrating only the epidermis, can be used to enhance treatment for a variety of conditions, including acne, melasma, dyschromias, photodamage, and actinic keratoses. Medium-depth peels, penetrating to the papillary dermis, may be used for dyschromia, multiple solar keratoses, superficial scars, and pigmentary disorders. Deep peels, affecting reticular dermis, may be used for severe photoaging, deep wrinkles, or scars. Peels can be combined with other in-office facial resurfacing techniques to optimize outcomes and enhance patient satisfaction and allow clinicians to tailor the treatment to individual patient needs. Successful outcomes are based on a careful patient selection as well as appropriate use of specific peeling agents. Used properly, the chemical peel has the potential to fill an important therapeutic need in the dermatologist's and plastic surgeon's armamentarium. PMID:20725555

Acquired Bilateral Longitudinal True Leukonychia in a 35-year-old Woman

PubMed Central

Mokhtari, Fatemeh; Mozafarpoor, Samaneh; Nouraei, Saeid; Nilforoushzadeh, Mohammad Ali

2016-01-01

Acquired bilateral longitudinal true leukonychia is a rare disorder. We present a case of a 35-year-old healthy woman presented with this unusual and rare manifestation. She mentioned a history of unprotected exposure to detergents and bleaching chemical agents. Considering her low zinc level, she was prescribed with zinc capsules and recommended to avoid chemical substances for 6 months. During bimonthly follow-up, her zinc level turned normal, and leukonychia subsequently disappeared. Bilateral longitudinal true leukonychia in the nails due to zinc deficiency and exposure to chemical substances has not been reported previously. Direct and indirect effects of chemical substances on matrix and the effect of zinc deficiency on healing process should be considered in these cases. PMID:27857831

Longitudinal Study of Driver Licensing Rates among Adolescents and Young Adults with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Curry, Allison E.; Yerys, Benjamin E.; Huang, Patty; Metzger, Kristi B.

2018-01-01

Driving may increase mobility and independence for adolescents with autism without intellectual disability (autism spectrum disorder); however, little is known about rates of licensure. To compare the proportion of adolescents with and without autism spectrum disorder who acquire a learner's permit and driver's license, as well as the rate at…

Acquired resistance mechanisms to tyrosine kinase inhibitors in lung cancer with activating epidermal growth factor receptor mutation--diversity, ductility, and destiny.

PubMed

Suda, Kenichi; Mizuuchi, Hiroshi; Maehara, Yoshihiko; Mitsudomi, Tetsuya

2012-12-01

Lung cancers that harbor somatic activating mutations in the gene for the epidermal growth factor receptor (EGFR) depend on mutant EGFR for their proliferation and survival; therefore, lung cancer patients with EGFR mutations often dramatically respond to orally available EGFR tyrosine kinase inhibitors (TKIs). However, emergence of acquired resistance is virtually inevitable, thus limiting improvement in patient outcomes. To elucidate and overcome this acquired resistance, multidisciplinary basic and clinical investigational approaches have been applied, using in vitro cell line models or samples obtained from lung cancer patients treated with EGFR-TKIs. These efforts have revealed several acquired resistance mechanisms and candidates, including EGFR secondary mutations (T790M and other rare mutations), MET amplification, PTEN downregulation, CRKL amplification, high-level HGF expression, FAS-NFκB pathway activation, epithelial-mesenchymal transition, and conversion to small cell lung cancer. Interestingly, cancer cells harbor potential destiny and ductility together in acquiring resistance to EGFR-TKIs, as shown in in vitro acquired resistance models. Molecular mechanisms of "reversible EGFR-TKI tolerance" that occur in early phase EGFR-TKI exposure have been identified in cell line models. Furthermore, others have reported molecular markers that can predict response to EGFR-TKIs in clinical settings. Deeper understanding of acquired resistance mechanisms to EGFR-TKIs, followed by the development of molecular target drugs that can overcome the resistance, might turn this fatal disease into a chronic disorder.

Monitoring of anesthetic depth during surgical correction of acquired valvular disorders: single center, randomized trial.

PubMed

Lenkin, Andrey I; Zaharov, Viktor I; Lenkin, Pavel I; Smetkin, Alexey A; Bjertnaes, Lars J; Kirov, Mikhail Y

2014-04-01

The authors' primary objective was to test the hypothesis that Cerebral State Index (CSI)-guided control of anesthetic depth might reduce the consumption of anesthetics and shorten the duration of ICU and hospital stays after surgical correction of combined valve disorders. Single center, randomized trial. City Hospital Number 1 of Arkhangelsk, Russian Federation. Fifty adult patients with combined valve disorders requiring surgical correction. The patients were randomized into 2 groups. In the CSI group, anesthetic depth was monitored, and the rate of infusion of propofol was titrated to maintain the depth of anesthesia corresponding to a CSI of 40-60. In the control group, the depth of anesthesia was monitored clinically, and the dosage of propofol was administered according to the recommendations of the manufacturer. All patients received standard perioperative monitoring. Consumption of anesthetics and length of ICU and hospital stays were recorded. Preoperative patient characteristics did not differ significantly between the groups. In the CSI group, average intraoperative doses of midazolam and propofol were reduced by 41% and 19%, respectively (p<0.01). Maintenance of anesthesia guided by CSI shortened the time until fit for ICU discharge by 50% and reduced the lengths of ICU and postoperative hospital stays by 35% and 25%, respectively (p< 0.05). Monitoring of anesthetic depth reduces the requirements for midazolam and propofol, resulting in a faster recovery and a shorter postoperative ICU and hospital stay after surgical correction of combined valve disorders. Copyright © 2014 Elsevier Inc. All rights reserved.

Beyond Utterances: Distributed Cognition as a Framework for Studying Discourse in Adults with Acquired Brain Injury

PubMed Central

Duff, Melissa C.; Mutlu, Bilge; Byom, Lindsey; Turkstra, Lyn S.

2014-01-01

Considerable effort has been directed at understanding the nature of the communicative deficits observed in individuals with acquired brain injuries. Yet several theoretical, methodological, and clinical challenges remain. In this article, we examine distributed cognition as a framework for understanding interaction among communication partners, interaction of communication and cognition, and interaction with the environments and contexts of everyday language use. We review the basic principles of distributed cognition and the implications for applying this approach to the study of discourse in individuals with cognitive-communication disorders. We also review a range of protocols and findings from our research that highlight how the distributed cognition approach might offer a deeper understanding of communicative mechanisms and deficits in individuals with cognitive communication impairments. The advantages and implications of distributed cognition as a framework for studying discourse in adults with acquired brain injury are discussed. PMID:22362323

Does metacognitive strategy instruction improve impaired receptive cognitive-communication skills following acquired brain injury?

PubMed

Copley, Anna; Smith, Kathleen; Savill, Katelyn; Finch, Emma

2015-01-01

To investigate if metacognitive strategy instruction (MSI) improves the receptive language skills of adults with cognitive-communication disorders secondary to acquired brain injury (ABI). An ABA intervention programme was implemented with eight adults with ABI, aged 25-70 years. The Measure of Cognitive-Linguistic Abilities (MCLA) was administered at baseline and following treatment. The treatment employed in this study involved three components: individual goal-based therapy, group remediation therapy using self-instruction and home practice. No receptive language sub-tests of the MCLA reached statistical significance. However, participants' raw score improvements in receptive language sub-tests indicated that MSI may be effective at remediating CCDs following ABI. Preliminary findings indicate that MSI may be effective in improving receptive language skills in adults with CCDs following ABI. Further research involving a more rigorous study, a larger sample size and a more reliable outcome measure is necessary and may provide statistically significant evidence for the effectiveness of MSI for remediating receptive language disorders.

Role of laser peripheral iridotomy in pigmentary glaucoma and pigment dispersion syndrome: A review of the literature.

PubMed

Buffault, J; Leray, B; Bouillot, A; Baudouin, C; Labbé, A

2017-11-01

Pigment dispersion syndrome (PDS) is characterized by a structural abnormality of the posterior surface of the iris causing contact with the zonular fibers. It can lead to an open-angle glaucoma secondary to pigment dispersion into the trabecular meshwork. Laser peripheral iridotomy (PI) has been proposed as a treatment for pigmentary glaucoma (PG) and pigment dispersion syndrome (PDS) by reducing the dispersion of pigment. The goal of this review was to assess the effects of PI for PDS and PG. We included six randomized controlled trials and two cohort studies (286 eyes of 218 participants). Four trials included participants with PG, and 4 trials enrolled participants with PDS with or without elevated intraocular pressure (IOP). Among patients with PG, at an average of 9 months of follow-up, the mean difference in IOP between groups was 2.69mm Hg less in the PI group (95% CI: -6.05 to 0.67; 14 eyes). In patients with PDS, the average IOP was statistically lower after PI as compared to baseline (Student test t=11.49, P<0.01, 38 eyes). With regard to visual field progression in participants with PG, after an average follow-up of 28 months, the risk of progression was not influenced by PI (RR 1.00 95% CI: 0.16 to 6.25; 32 eyes). No trials that enrolled patients with PDS showed a diminution of the risk of glaucoma conversion at mid- and long-terms. PI decreases the biomechanical factor causing contact between the iris and zonular fibers and may lower IOP over the long-term. Nevertheless, the effects of PI on visual field changes or progression have not been established in PG and PDS. There is no scientific evidence as of yet to advocate PI as a treatment for PDS or PG. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

The Atlanta Motor Speech Disorders Corpus: Motivation, Development, and Utility.

PubMed

Laures-Gore, Jacqueline; Russell, Scott; Patel, Rupal; Frankel, Michael

2016-01-01

This paper describes the design and collection of a comprehensive spoken language dataset from speakers with motor speech disorders in Atlanta, Ga., USA. This collaborative project aimed to gather a spoken database consisting of nonmainstream American English speakers residing in the Southeastern US in order to provide a more diverse perspective of motor speech disorders. Ninety-nine adults with an acquired neurogenic disorder resulting in a motor speech disorder were recruited. Stimuli include isolated vowels, single words, sentences with contrastive focus, sentences with emotional content and prosody, sentences with acoustic and perceptual sensitivity to motor speech disorders, as well as 'The Caterpillar' and 'The Grandfather' passages. Utility of this data in understanding the potential interplay of dialect and dysarthria was demonstrated with a subset of the speech samples existing in the database. The Atlanta Motor Speech Disorders Corpus will enrich our understanding of motor speech disorders through the examination of speech from a diverse group of speakers. © 2016 S. Karger AG, Basel.

Protective Effects of Psychological Strengths Against Psychiatric Disorders Among Soldiers.

PubMed

Shrestha, Alice; Cornum, B G Rhonda; Vie, Loryana L; Scheier, Lawrence M; Lester, M A J Paul B; Seligman, Martin E P

2018-03-01

This study prospectively examined psychological strengths targeted in U.S. Army training programs as predictors of psychiatric diagnosis in active duty soldiers. At baseline, the cohort (140,584 soldiers) was without psychiatric disorder. Soldiers were then followed for 2 yr and classified as healthy, or acquiring a psychiatric diagnosis (adjustment disorder, anxiety disorder, depression, or post-traumatic stress disorder), or being prescribed psychotropic medication without a psychiatric diagnosis. Soldiers who remained healthy reported significantly higher strengths scores at baseline, compared with soldiers who were diagnosed with a psychiatric disorder. In addition, soldiers in the worst strengths decile were twice as likely to develop a psychiatric disorder, compared with soldiers in the top 50% on baseline strengths. Strengths afforded the greatest protection against depression. Offering tailored resilience training programs could help the Army steel vulnerable soldiers against the challenges of life, military training, and combat.

Xeroderma pigmentosum clinical practice guidelines.

PubMed

Moriwaki, Shinichi; Kanda, Fumio; Hayashi, Masaharu; Yamashita, Daisuke; Sakai, Yoshitada; Nishigori, Chikako

2017-10-01

Xeroderma pigmentosum (XP) is a genetic photosensitive disorder in which patients are highly susceptibe to skin cancers on the sun-exposed body sites. In Japan, more than half of patients (30% worldwide) with XP show complications of idiopathic progressive, intractable neurological symptoms with poor prognoses. Therefore, this disease does not merely present with dermatological symptoms, such as photosensitivity, pigmentary change and skin cancers, but is "an intractable neurological and dermatological disease". For this reason, in March 2007, the Japanese Ministry of Health, Labor and Welfare added XP to the neurocutaneous syndromes that are subject to government research initiatives for overcoming intractable diseases. XP is one of the extremely serious photosensitive disorders in which patients easily develop multiple skin cancers if they are not completely protected from ultraviolet radiation. XP patients thus need to be strictly shielded from sunlight throughout their lives, and they often experience idiopathic neurodegenerative complications that markedly reduce the quality of life for both the patients and their families. Hospitals in Japan often see cases of XP as severely photosensitive in children, and as advanced pigmentary disorders of the sun-exposed area with multiple skin cancers in adults (aged in their 20-40s), making XP an important disease to differentiate in everyday clinical practice. It was thus decided that there was a strong need for clinical practice guidelines dedicated to XP. This process led to the creation of new clinical practice guidelines for XP. © 2017 Japanese Dermatological Association.

Differential Diagnosis of Speech Sound Disorder (Phonological Disorder): Audiological Assessment beyond the Pure-tone Audiogram.

PubMed

Iliadou, Vasiliki Vivian; Chermak, Gail D; Bamiou, Doris-Eva

2015-04-01

According to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, diagnosis of speech sound disorder (SSD) requires a determination that it is not the result of other congenital or acquired conditions, including hearing loss or neurological conditions that may present with similar symptomatology. To examine peripheral and central auditory function for the purpose of determining whether a peripheral or central auditory disorder was an underlying factor or contributed to the child's SSD. Central auditory processing disorder clinic pediatric case reports. Three clinical cases are reviewed of children with diagnosed SSD who were referred for audiological evaluation by their speech-language pathologists as a result of slower than expected progress in therapy. Audiological testing revealed auditory deficits involving peripheral auditory function or the central auditory nervous system. These cases demonstrate the importance of increasing awareness among professionals of the need to fully evaluate the auditory system to identify auditory deficits that could contribute to a patient's speech sound (phonological) disorder. Audiological assessment in cases of suspected SSD should not be limited to pure-tone audiometry given its limitations in revealing the full range of peripheral and central auditory deficits, deficits which can compromise treatment of SSD. American Academy of Audiology.

[Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes].

PubMed

Hamel, C P; Griffoin, J M; Bazalgette, C; Lasquellec, L; Duval, P A; Bareil, C; Beaufrère, L; Bonnet, S; Eliaou, C; Marlhens, F; Schmitt-Bernard, C F; Tuffery, S; Claustres, M; Arnaud, B

2000-12-01

To evaluate the occurrence and inheritance of various types of pigmentary retinopathy in patients followed at the outpatient clinic in the university hospital, Montpellier, France. To characterize genes and mutations causing these conditions. Ophthalmic examination and various visual tests were performed. Mutations were sought from genomic DNA by PCR amplification of exons associated with single-strand conformation analysis and/or direct sequencing. Among 315 patients over an 8-year period, cases of retinitis pigmentosa (63.2%), Usher's syndrome (10.2%), Stargardt's disease (5.4%), choroideremia (3.2%), Leber's congenital amaurosis (3.2%), congenital stationary night blindness (2.9%), cone dystrophy (2.5%), dominant optic atrophy (1.9%), X-linked juvenile retinoschisis (1.6%), Best's disease (1.6%), and others (4.3%) were diagnosed. In retinitis pigmentosa, inheritance could be determined in 54.2% of the cases including dominant autosomic (26.6%), recessive autosomic (22.6%), and X-linked cases (5%) while it could not be confirmed in 45.7% of the cases (simplex cases in the majority). For the 6 examined genes, mutations were found in 22 out of 182 propositus (12.1%). Analysis of phenotype-genotype correlations indicates that in retinitis pigmentosa, RDS is more frequently associated with macular involvement and retinal flecks, RHO with regional disease, and RPE65 with the great severity of the disease with some cases of Leber's congenital amaurosis. Identification of genes may help in diagnosis and in genetic counseling, especially in simplex cases with retinitis pigmentosa. In this latter condition, molecular diagnosis will be necessary to rationalize future treatments.

Autophagy as a melanocytic self-defense mechanism.

PubMed

Setaluri, Vijayasaradhi

2015-05-01

Defects in autophagy have implications for melanocyte survival and manifestations of skin pigmentary disorders. Zhang et al. (2015) show that mouse melanocytes lacking the autophagy protein Atg7 undergo premature senescence in vitro and accumulate products of oxidative damage, despite activation of the redox response. Interestingly, contrary to previous findings, the melanocyte-specific deficiency in autophagy did not cause major defects in melanosome biogenesis, nor did it produce visually striking changes in mouse coat color.

Clinical significance of acquired somatic mutations in aplastic anaemia.

PubMed

Marsh, J C W; Mufti, G J

2016-08-01

Aplastic anaemia (AA) is frequently associated with other disorders of clonal haemopoiesis such as paroxysmal nocturnal haemoglobinuria (PNH), myelodysplastic syndrome (MDS) and T-large granular lymphocytosis. Certain clones may escape the immune attack within the bone marrow environment and proliferate and attain a survival advantage over normal haemopoietic stem cells, such as trisomy 8, loss of heterozygosity of short arm of chromosome 6 and del13q clones. Recently acquired somatic mutations (SM), excluding PNH clones, have been reported in around 20-25 % of patients with AA, which predispose to a higher risk of later malignant transformation to MDS/acute myeloid leukaemia. Furthermore, certain SM, such as ASXL1 and DNMT3A are associated with poor survival following immunosuppressive therapy, whereas PIGA, BCOR/BCORL1 predict for good response and survival. Further detailed and serial analysis of the immune signature in AA is needed to understand the pathogenetic basis for the presence of clones with SM in a significant proportion of patients.

Advances in the treatment of melasma: a review of the recent literature.

PubMed

Ball Arefiev, Katharine L; Hantash, Basil M

2012-07-01

Melasma is an acquired pigmentary disorder classically manifesting as symmetric hyperpigmented macules and patches on the face. It most commonly affects women of reproductive age with darker skin tones but may also affect adolescents, older women, and men. Although its pathogenesis remains unclear, known risk factors include ultraviolet radiation, hormonal variations of pregnancy, thyroid disease, oral contraceptives, and antiseizure medications. Hydroquinone-containing topical agents are the current standard for melasma treatment, but concern about side effects and long-term safety has spurred efforts to develop alternative treatment options. To review recent advances in melasma treatment. MEDLINE was searched from 2006 to the present for randomized controlled trials (RCTs) of melasma treatments. Nineteen published RCTs were found covering interventions such as topical therapies, chemical peels, and electromagnetic devices. The outcomes of the studies were summarized into tabular form for easy reference and comparison. Although melasma is difficult to treat, novel therapeutic modalities have emerged. Further RCT need to be performed to better assess the safety and efficacy of these novel treatment modalities, especially for the long-term maintenance of melasma. © 2012 by the American Society for Dermatologic Surgery, Inc. Published by Wiley Periodicals, Inc.

Efficacy of 694-nm fractional Q-switched ruby laser (QSRL) combined with sonophoresis on levorotatory vitamin C for treatment of melasma in Chinese patients.

PubMed

Zhou, H L; Hu, B; Zhang, C

2016-07-01

Melasma is a common acquired and distressing pigmentary disorder presenting to dermatology clinics. It is notably difficult to cure and has a tendency to relapse. The efficacy of classical Q-switched laser in treatment of melasma remains controversial. This study aims to investigate the efficacy and safety of 694-nm fractional QSRL combined with sonophoresis on levorotatory vitamin C for the treatment of melasma patients. Twenty-six patients with melasma were enrolled. Each patient received four to six fractional QSRL treatments at pulse energies of 2.5 to 4 J/cm(2) combined with sonophoresis on levorotatory vitamin C at 2-week intervals. The severity and the area of melasma were assessed by two investigators using the melasma area and severity index (MASI). Side effects were documented. Mean MASI score decreased from 15.51 ± 3.00 before treatment to 10.02 ± 4.39 3 months after the final treatment (P < 0.01). Side effects were few and transient. High-density coverage fractional QSRL combined with sonophoresis on levorotatory vitamin C is safe and effective for the treatment of melasma in Chinese patients.

Amelanocytic anhidrotic alopecia areata-like phenotype after allogeneic hematopoietic cell transplant.

PubMed

Kamińska, Edidong Celestine Ntuen; Larson, Richard A; Petronic-Rosic, Vesna

2012-08-01

Diffuse alopecia areata or canities subita is a rare variant of alopecia in which hair loss is associated with regrowth of white hairs and possible lightening of the skin. Preferential loss of pigmented hair in this disorder may be related to the melanin pigment system and/or melanocytes. Acquired generalized anhidrosis can be associated with autoimmune disease, cancer, graft-vs-host disease, or medications or can be idiopathic. Extensive anhidrosis may cause hyperpyrexia on exposure to heat, and protection from overheating is essential. A 38-year-old man with idiopathic autoimmune aplastic anemia developed permanent diffuse skin and hair whitening and generalized anhidrosis after a successful allogeneic hematopoietic stem cell transplant. Results of a histopathologic examination, which has previously not been reported in this disease, demonstrated a complete lack of epidermal and follicular melanocytes and a dense perifollicular and periadnexal lymphocytic infiltrate. The hair- and skin-lightening phenomena in diffuse alopecia areata may be the result of an overstimulated immune system that targets epidermal and follicular melanocytes. Destruction results in irreversible pigmentary loss of the skin. In a patient with multiple risk factors for anhidrosis, a specific cause may be difficult to determine.

Cytomegalovirus Retinitis as a Presenting Feature of Multisystem Disorder: Dyskeratosis Congenita.

PubMed

Parchand, Swapnil; Barwad, Adarsh

2017-01-01

Cytomegalovirus (CMV) retinitis is an opportunistic infection commonly seen in disorders that affect the immune system of the body such as acquired immunodeficiency syndrome and hematological malignancies such as leukemia/lymphoma or organ transplantation. The occurrence of CMV retinitis in the absence of such condition should be thoroughly investigated, as it is a strong indicator of poor immune competence. We here report an interesting case of CMV retinitis as a presenting feature of rare multisystem disorde r "Dyskeratosis congenita."

Management of bleeding in acquired hemophilia A: results from the European Acquired Haemophilia (EACH2) Registry.

PubMed

Baudo, Francesco; Collins, Peter; Huth-Kühne, Angela; Lévesque, Hervé; Marco, Pascual; Nemes, László; Pellegrini, Fabio; Tengborn, Lilian; Knoebl, Paul

2012-07-05

Acquired hemophilia A is a rare bleeding disorder caused by autoantibodies to coagulation FVIII. Bleeding episodes at presentation are spontaneous and severe in most cases. Optimal hemostatic therapy is controversial, and available data are from observational and retrospective studies only. The EACH2 registry, a multicenter, pan-European, Web-based database, reports current patient management. The aim was to assess the control of first bleeding episodes treated with a bypassing agent (rFVIIa or aPCC), FVIII, or DDAVP among 501 registered patients. Of 482 patients with one or more bleeding episodes, 144 (30%) received no treatment for bleeding; 31 were treated with symptomatic therapy only. Among 307 patients treated with a first-line hemostatic agent, 174 (56.7%) received rFVIIa, 63 (20.5%) aPCC, 56 (18.2%) FVIII, and 14 (4.6%) DDAVP. Bleeding was controlled in 269 of 338 (79.6%) patients treated with a first-line hemostatic agent or ancillary therapy alone. Propensity score matching was applied to allow unbiased comparison between treatment groups. Bleeding control was significantly higher in patients treated with bypassing agents versus FVIII/DDAVP (93.3% vs 68.3%; P = .003). Bleeding control was similar between rFVIIa and aPCC (93.0%; P = 1). Thrombotic events were reported in 3.6% of treated patients with a similar incidence between rFVIIa (2.9%) and aPCC (4.8%).

Myasthenia gravis and related disorders: Pathology and molecular pathogenesis.

PubMed

Ha, James C; Richman, David P

2015-04-01

Disorders affecting the presynaptic, synaptic, and postsynaptic portions of the neuromuscular junction arise from various mechanisms in children and adults, including acquired autoimmune or toxic processes as well as genetic mutations. Disorders include autoimmune myasthenia gravis associated with acetylcholine receptor, muscle specific kinase or Lrp4 antibodies, Lambert-Eaton myasthenic syndrome, nerve terminal hyperexcitability syndromes, Guillain Barré syndrome, botulism, organophosphate poisoning and a number of congenital myasthenic syndromes. This review focuses on the various molecular and pathophysiological mechanisms of these disorders, characterization of which has been crucial to the development of treatment strategies specific for each pathogenic mechanism. In the future, further understanding of the underlying processes may lead to more effective and targeted therapies of these disorders. This article is part of a Special Issue entitled: Neuromuscular Diseases: Pathology and Molecular Pathogenesis. Copyright © 2014 Elsevier B.V. All rights reserved.

Community-acquired bacterial meningitis.

PubMed

van de Beek, Diederik; Brouwer, Matthijs; Hasbun, Rodrigo; Koedel, Uwe; Whitney, Cynthia G; Wijdicks, Eelco

2016-11-03

Meningitis is an inflammation of the meninges and subarachnoid space that can also involve the brain cortex and parenchyma. It can be acquired spontaneously in the community - community-acquired bacterial meningitis - or in the hospital as a complication of invasive procedures or head trauma (nosocomial bacterial meningitis). Despite advances in treatment and vaccinations, community-acquired bacterial meningitis remains one of the most important infectious diseases worldwide. Streptococcus pneumoniae and Neisseria meningitidis are the most common causative bacteria and are associated with high mortality and morbidity; vaccines targeting these organisms, which have designs similar to the successful vaccine that targets Haemophilus influenzae type b meningitis, are now being used in many routine vaccination programmes. Experimental and genetic association studies have increased our knowledge about the pathogenesis of bacterial meningitis. Early antibiotic treatment improves the outcome, but the growing emergence of drug resistance as well as shifts in the distribution of serotypes and groups are fuelling further development of new vaccines and treatment strategies. Corticosteroids were found to be beneficial in high-income countries depending on the bacterial species. Further improvements in the outcome are likely to come from dampening the host inflammatory response and implementing preventive measures, especially the development of new vaccines.

[Fegelers syndrome, acquired port-wine stain or acquired capillary malformation: three cases and a literature review].

PubMed

Freysz, M; Cribier, B; Lipsker, D

2013-05-01

Port-wine stains or capillary malformations are generally congenital. Very few cases of acquired port-wine stains in adults have been described, and these occur particularly after trauma. We report three cases of acquired port-wine stains and we performed a review of the literature using the keywords "port-wine stain", "capillary malformation", "angioma" and "acquired" in the Medline database PubMed. All relevant articles were included. Two male patients and one female patient consulted for one or more angiomatous lesions, located respectively on the upper rear part of the right thigh (case 1), the left leg (case 2) and the right side of the face, skull and chest (case 3). Each patient's skin biopsy was consistent with port-wine stain. The three patients asserted the acquired nature of the lesions: the male patients were respectively 17 and 38 years old, and the female patient was 11 years old. No causative factors were evident preceding the lesion, and there was no family history of port-wine stain. The topography was systematic in patients 2 and 3. The lesions were light red in patient 1, dark red in patient 2 and pale pink in patient 3. The remainder of the physical examination was unremarkable, except for benign angiokeratoma of the scrotum in case 1 and pigmented leucoderma-type macules in case 3. LITERATURE RESULTS: Sixty-six cases of acquired port-wine stains were reported in the literature. The average age was 25 years (3-69) with a sex-ratio of 0.88. Generally, no causative factor was given. However, trauma (30.5%), estrogenic impregnation (16.5%), and more rarely, medication, solar damage, frostbite, cluster headache, herpes zoster and acoustic neuroma were reported as causatives factors. Acquired port-wine stain is rare. Although often idiopathic, it can result from spinal trauma, which must be explored if suggested by the history. In our series, the clinical presentation suggested a latent congenital vascular malformation of late onset, in particular in

[Innate immunity in neuroimmunological disorders].

PubMed

Miyake, Sachiko

2013-05-01

Exogeneous pathogen-associated molecular patterns and endogenous danger signals bind to pattern recognition receptors and activate innate immunity cells, leading to proinflammatory cytokine production and activation of acquired immue cells. These are important factors in the pathogenesis of autoimmune-mediated neuroimmunological disorders such as multiple sclerosis. Furthermore, recent advances in the study of innate immunity revealed that innate immunity is a major players in the pathogenesis of some neuroimmunological diseases such as Behçet's disease and herpes simplex virus encephalitis.

Preschoolers Acquire General Knowledge by Sharing in Pretense

ERIC Educational Resources Information Center

Sutherland, Shelbie L.; Friedman, Ori

2012-01-01

Children acquire general knowledge about many kinds of things, but there are few known means by which this knowledge is acquired. In this article, it is proposed that children acquire generic knowledge by sharing in pretend play. In Experiment 1, twenty-two 3- to 4-year-olds watched pretense in which a puppet represented a "nerp" (an unfamiliar…

Desmosomes in acquired disease

PubMed Central

Stahley, Sara N.; Kowalczyk, Andrew P.

2015-01-01

Desmosomes are cell-cell junctions that mediate adhesion and couple the intermediate filament cytoskeleton to sites of cell-cell contact. This architectural arrangement functions to integrate adhesion and cytoskeletal elements of adjacent cells. The importance of this robust adhesion system is evident in numerous human diseases, both inherited and acquired, that occur when desmosome function is compromised. This review focuses on autoimmune and infectious diseases that impair desmosome function. In addition, we discuss emerging evidence that desmosomal genes are often misregulated in cancer. The emphasis of our discussion is placed on how human diseases inform our understanding of basic desmosome biology, and in turn, how fundamental advances in the cell biology of desmosomes may lead to new treatments for acquired diseases of the desmosome. PMID:25795143

Corpus callosum demyelination associated with acquired stuttering.

PubMed

Decker, Barbara McElwee; Guitar, Barry; Solomon, Andrew

2018-04-21

Compared with developmental stuttering, adult onset acquired stuttering is rare. However, several case reports describe acquired stuttering and an association with callosal pathology. Interestingly, these cases share a neuroanatomical localisation also demonstrated in developmental stuttering. We present a case of adult onset acquired stuttering associated with inflammatory demyelination within the corpus callosum. This patient's disfluency improved after the initiation of immunomodulatory therapy. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

[Usher syndrome: about a case].

PubMed

Daoudi, Chama; Boutimzine, Noureddine; Haouzi, Samia El; Lezrek, Omar; Tachfouti, Samira; Lezrek, Mounir; Laghmari, Mina; Daoudi, Rajae

2017-01-01

Usher syndrome is a genetic disease resulting in double sensory deprivation (auditory and visual) called deafblindness. We report the case of a 50-year old patient, born to consanguineous parents, presenting with congenital deafness associated with normal vestibular function and pigmentary retinopathy responsible for decreased bilateral visual acuity occurred at the age of 16 years. This association composes Usher syndrome type 2, a rare autosomal recessive disorder. Cataract surgery allowed visual acuity improvement in this patient.

Spinal cord toxoplasmosis in human immunodeficiency virus infection/acquired immunodeficiency syndrome.

PubMed

García-García, Concepción; Castillo-Álvarez, Federico; Azcona-Gutiérrez, José M; Herraiz, María J; Ibarra, Valvanera; Oteo, José A

2015-05-01

Neurological complications in patients with human immunodeficiency virus infection/acquired immunodeficiency syndrome (HIV/AIDS) are still common, even in the era of highly active antiretroviral therapy. Opportunistic infections, immune reconstitution, the virus itself, antiretroviral drugs and neurocognitive disorders have to be considered when establishing the differential diagnosis. Toxoplasmic encephalitis remains the major cause of space-occupying lesions in the brain of patients with HIV/AIDS; however, spinal cord involvement has been reported infrequently. Here, we review spinal cord toxoplasmosis in HIV infection and illustrate the condition with a recent case from our hospital. We suggest that most patients with HIV/AIDS and myelitis with enhanced spine lesions, multiple brain lesions and positive serology for Toxoplasma gondii should receive immediate empirical treatment for toxoplasmosis, and a biopsy should be performed in those cases without clinical improvement or with deterioration.

Diminished medial prefrontal cortex activation during the recollection of stressful events is an acquired characteristic of PTSD.

PubMed

Dahlgren, M K; Laifer, L M; VanElzakker, M B; Offringa, R; Hughes, K C; Staples-Bradley, L K; Dubois, S J; Lasko, N B; Hinojosa, C A; Orr, S P; Pitman, R K; Shin, L M

2018-05-01

Previous research has shown relatively diminished medial prefrontal cortex activation and heightened psychophysiological responses during the recollection of personal events in post-traumatic stress disorder (PTSD), but the origin of these abnormalities is unknown. Twin studies provide the opportunity to determine whether such abnormalities reflect familial vulnerabilities, result from trauma exposure, or are acquired characteristics of PTSD. In this case-control twin study, 26 male identical twin pairs (12 PTSD; 14 non-PTSD) discordant for PTSD and combat exposure recalled and imagined trauma-unrelated stressful and neutral life events using a standard script-driven imagery paradigm during functional magnetic resonance imaging and concurrent skin conductance measurement. Diminished activation in the medial prefrontal cortex during Stressful v. Neutral script-driven imagery was observed in the individuals with PTSD, relative to other groups. Diminished medial prefrontal cortex activation during Stressful v. Neutral script-driven imagery may be an acquired characteristic of PTSD. If replicated, this finding could be used prospectively to inform diagnosis and the assessment of treatment response.

Screening tools for the identification of dementia for adults with age-related acquired hearing or vision impairment: a scoping review.

PubMed

Pye, Annie; Charalambous, Anna Pavlina; Leroi, Iracema; Thodi, Chrysoulla; Dawes, Piers

2017-11-01

Cognitive screening tests frequently rely on items being correctly heard or seen. We aimed to identify, describe, and evaluate the adaptation, validity, and availability of cognitive screening and assessment tools for dementia which have been developed or adapted for adults with acquired hearing and/or vision impairment. Electronic databases were searched using subject terms "hearing disorders" OR "vision disorders" AND "cognitive assessment," supplemented by exploring reference lists of included papers and via consultation with health professionals to identify additional literature. 1,551 papers were identified, of which 13 met inclusion criteria. Four papers related to tests adapted for hearing impairment; 11 papers related to tests adapted for vision impairment. Frequently adapted tests were the Mini-Mental State Examination (MMSE) and the Montreal Cognitive Assessment (MOCA). Adaptations for hearing impairment involved deleting or creating written versions for hearing-dependent items. Adaptations for vision impairment involved deleting vision-dependent items or spoken/tactile versions of visual tasks. No study reported validity of the test in relation to detection of dementia in people with hearing/vision impairment. Item deletion had a negative impact on the psychometric properties of the test. While attempts have been made to adapt cognitive tests for people with acquired hearing and/or vision impairment, the primary limitation of these adaptations is that their validity in accurately detecting dementia among those with acquired hearing or vision impairment is yet to be established. It is likely that the sensitivity and specificity of the adapted versions are poorer than the original, especially if the adaptation involved item deletion. One solution would involve item substitution in an alternative sensory modality followed by re-validation of the adapted test.

[Modern documentary research on disease menu of acupuncture-moxibustion for mental and behavioral disorder].

PubMed

Hu, You-Ping; Chen, Yong; Xing, Lin; Niu, Bai-Lu; Zhu, Feng-Juan; Han, Jing; Wang, Yu; Bian, Wei; Liu, Cong-Sheng; Wei, Li; Du, Yuan-Hao

2011-10-01

Dominant disease menu of mental and behavioral disorder of acupuncture therapy was summarized and obtained in this article. Literatures on clinical treatment of mental and behavioral disorder with acupuncture were picked up from CBMdisc and CNKI during 1978 to 2007. Types of mental and behavioral disorder and report frequency of each disease treated with acupuncture were counted. And dominant diseases which were favorable to be treated with acupuncture were acquired through analysis and inductive method. Twenty-nine diseases of mental and behavioral disorder are favorable to be treated with acupuncture which were mentioned in totally 1967 related documents. It is found that the number of reports of sleep disorder, depression, hysteria aphronesia, dementia and sexual disorder are ranked as the top five. It is concluded that the preponderant diseases of mental and behavioral disorder treated by acupuncture are dementia, withdrawal syndrome, mental retardation, obsessive-compulsive disorder, sleep disorder, gastrointestinal neurosis (gastrointestinal disorders), depression, alcoholism and globus hystericus.

Myelofibrosis and acquired hemophilia A: a case report.

PubMed

Wrobel, Marie; Comio, Emilie; Gay, Valerie; Baroudi, Noureddine; Meyer, Pascal; Chuniaud-Louche, Christine; Hacini, Maya; Pica, Gian Matteo

2016-05-07

Myelofibrosis and acquired hemophilia A is a rare association. To the best of our knowledge only one case of myelofibrosis and acquired hemophilia A has been previously described. A 66-year-old Caucasian man diagnosed with myelofibrosis evolving in acute myeloid leukemia was referred to us for postoperative bleeding. Hemostatic studies showed prolonged activated partial thromboplastin time, decreased factor VIII coagulation, and a high factor VIII inhibitor titer; these findings led to a diagnosis of acquired hemophilia A for which he was treated with methylprednisolone and recombinant activated factor VII on admission. Due to a lack of response he was subsequently treated with rituximab combined with activated prothrombin complex concentrates. Furthermore, he received azacytidine to treat the underlying hematological malignancies. Immunosuppressive rituximab therapy resolved acquired hemophilia A with marked efficacy. Rapid and accurate diagnosis, effective hemostatic therapy, and timely treatment for underlying disease are important in the management of acquired hemophilia A secondary to hematological malignancy.

Epilepsy: A Spectrum Disorder

PubMed Central

Sirven, Joseph I.

2015-01-01

Epilepsy, a disorder of unprovoked seizures is a multifaceted disease affecting individuals of all ages with a particular predilection for the very young and old. In addition to seizures, many patients often report cognitive and psychiatric problems associated with both the seizures themselves and its therapy. Epilepsy has numerous etiologies both idiopathic and acquired with a wide range of therapeutic responses. Despite numerous treatments available to control repetitive seizures including medications, diets, immunotherapy, surgery, and neuromodulatory devices, a large percentage of patients continue to suffer the consequences of uncontrolled seizures, which include psychosocial stigma and death. PMID:26328931

Immunochip analysis identifies novel susceptibility loci in the human leukocyte antigen region for acquired thrombotic thrombocytopenic purpura.

PubMed

Mancini, I; Ricaño-Ponce, I; Pappalardo, E; Cairo, A; Gorski, M M; Casoli, G; Ferrari, B; Alberti, M; Mikovic, D; Noris, M; Wijmenga, C; Peyvandi, F

2016-12-01

Essentials Genetic predisposition to acquired thrombotic thrombocytopenic purpura (aTTP) is mainly unknown. Genetic risk factors for aTTP were studied by Immunochip analysis and replication study. Human leukocyte antigen (HLA) variant rs6903608 conferred a 2.5-fold higher risk of developing aTTP. rs6903608 and HLA-DQB1*05:03 may explain most of the HLA association signal in aTTP. Click to hear Dr Cataland's presentation on acquired thrombotic thrombocytopenic purpura SUMMARY: Background Acquired thrombotic thrombocytopenic purpura (TTP) is a rare, life-threatening thrombotic microangiopathy associated with the development of autoantibodies against the von Willebrand factor-cleaving protease ADAMTS-13. Similarly to what has been found for other autoimmune disorders, there is evidence of a genetic contribution, including the association of the human leukocyte antigen (HLA) class II complex with disease risk. Objective To identify novel genetic risk factors in acquired TTP. Patients/Methods We undertook a case-control genetic association study in 190 European-origin TTP patients and 1255 Italian healthy controls by using the Illumina Immunochip. Replication analysis in 88 Italian cases and 456 controls was performed with single-nucleotide polymorphism (SNP) TaqMan assays. Results and conclusion We identified one common variant (rs6903608) located within the HLA class II locus that was independently associated with acquired TTP at genome-wide significance and conferred a 2.6-fold increased risk of developing a TTP episode (95% confidence interval [CI] 2.02-3.27, P = 1.64 × 10 -14 ). We also found five non-HLA variants mapping to chromosomes 2, 6, 8 and X that were suggestively associated with the disease: rs9490550, rs115265285, rs5927472, rs7823314, and rs1334768 (nominal P-values ranging from 1.59 × 10 -5 to 7.60 × 10 -5 ). Replication analysis confirmed the association of HLA variant rs6903608 with acquired TTP (pooled P = 3.95 × 10 -19 ). Imputation of classic

[The use of growth hormone to treat endocrine-metabolic disturbances in acquired immunodeficiency syndrome (AIDS) patients].

PubMed

Spinola-Castro, Angela Maria; Siviero-Miachon, Adriana A; da Silva, Marcos Tadeu Nolasco; Guerra-Junior, Gil

2008-07-01

Acquired Immunodeficiency Syndrome (Aids) was initially related to HIV-associated wasting syndrome, and its metabolic disturbances to altered body composition. After Highly Active Antiretroviral Therapy (HAART) was started, malnutrition has declined and HIV-associated lipodystrophy syndrome has emerged as an important metabolic disorder. Aids is also characterized by hormonal disturbances, principally in growth hormone/insulin-like growth factor 1 (GH/IGF-1) axis. The use of recombinant human GH (hrGH) was formerly indicated to treat wasting syndrome, in order to increase lean body mass. Even though the use of hrGH in lipodystrophy syndrome has been considered, the decrease in insulin sensitivity is a limitation for its use, which has not been officially approved yet. Diversity in therapeutic regimen is another limitation to its use in Aids patients. The present study has reviewed the main HIV-related endocrine-metabolic disorders as well as the use of hrGH in such conditions.

14 CFR 1274.402 - Contractor acquired property.

Code of Federal Regulations, 2010 CFR

2010-01-01

... 14 Aeronautics and Space 5 2010-01-01 2010-01-01 false Contractor acquired property. 1274.402 Section 1274.402 Aeronautics and Space NATIONAL AERONAUTICS AND SPACE ADMINISTRATION COOPERATIVE AGREEMENTS WITH COMMERCIAL FIRMS Property § 1274.402 Contractor acquired property. As provided in § 1274.923...

New Described Dermatological Disorders

PubMed Central

Cevirgen Cemil, Bengu; Keseroglu, Havva Ozge; Kaya Akis, Havva

2014-01-01

Many advances in dermatology have been made in recent years. In the present review article, newly described disorders from the last six years are presented in detail. We divided these reports into different sections, including syndromes, autoinflammatory diseases, tumors, and unclassified disease. Syndromes included are “circumferential skin creases Kunze type” and “unusual type of pachyonychia congenita or a new syndrome”; autoinflammatory diseases include “chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome,” “pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH) syndrome,” and “pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH) syndrome”; tumors include “acquired reactive digital fibroma,” “onychocytic matricoma and onychocytic carcinoma,” “infundibulocystic nail bed squamous cell carcinoma,” and “acral histiocytic nodules”; unclassified disorders include “saurian papulosis,” “symmetrical acrokeratoderma,” “confetti-like macular atrophy,” and “skin spicules,” “erythema papulosa semicircularis recidivans.” PMID:25243162

Autoimmunity and dysmetabolism of human acquired immunodeficiency syndrome.

PubMed

Huang, Yan-Mei; Hong, Xue-Zhi; Xu, Jia-Hua; Luo, Jiang-Xi; Mo, Han-You; Zhao, Hai-Lu

2016-06-01

Acquired immunodeficiency syndrome (AIDS) remains ill-defined by lists of symptoms, infections, tumors, and disorders in metabolism and immunity. Low CD4 cell count, severe loss of body weight, pneumocystis pneumonia, and Kaposi's sarcoma are the major disease indicators. Lines of evidence indicate that patients living with AIDS have both immunodeficiency and autoimmunity. Immunodeficiency is attributed to deficits in the skin- and mucosa-defined innate immunity, CD4 T cells and regulatory T cells, presumably relating human immunodeficiency virus (HIV) infection. The autoimmunity in AIDS is evident by: (1) overproduction of autoantibodies, (2) impaired response of CD4 cells and CD8 cells, (3) failure of clinical trials of HIV vaccines, and (4) therapeutic benefits of immunosuppression following solid organ transplantation and bone marrow transplantation in patients at risk of AIDS. Autoantibodies are generated in response to antigens such as debris and molecules de novo released from dead cells, infectious agents, and catabolic events. Disturbances in metabolic homeostasis occur at the interface of immunodeficiency and autoimmunity in the development of AIDS. Optimal treatments favor therapeutics targeting on the regulation of metabolism to restore immune homeostasis.

Acquired Cystic Kidney Disease

MedlinePlus

... care provider about when to begin screening. Eating, Diet, and Nutrition No specific diet will prevent or delay acquired ... Weight Management Liver Disease Urologic Diseases Endocrine Diseases Diet & Nutrition Blood Diseases Diagnostic Tests La información de la ...

26 CFR 1.9002-6 - Acquiring corporation.

Code of Federal Regulations, 2012 CFR

2012-04-01

... 26 Internal Revenue 13 2012-04-01 2012-04-01 false Acquiring corporation. 1.9002-6 Section 1.9002... (CONTINUED) INCOME TAXES (CONTINUED) General Actuarial Valuations § 1.9002-6 Acquiring corporation. Section 5... a corporation by another corporation in a distribution or transfer described in section 381(a) of...

26 CFR 1.9002-6 - Acquiring corporation.

Code of Federal Regulations, 2014 CFR

2014-04-01

... 26 Internal Revenue 13 2014-04-01 2014-04-01 false Acquiring corporation. 1.9002-6 Section 1.9002... (CONTINUED) INCOME TAXES (CONTINUED) General Actuarial Valuations § 1.9002-6 Acquiring corporation. Section 5... a corporation by another corporation in a distribution or transfer described in section 381(a) of...

26 CFR 1.9002-6 - Acquiring corporation.

Code of Federal Regulations, 2013 CFR

2013-04-01

... 26 Internal Revenue 13 2013-04-01 2013-04-01 false Acquiring corporation. 1.9002-6 Section 1.9002... (CONTINUED) INCOME TAXES (CONTINUED) General Actuarial Valuations § 1.9002-6 Acquiring corporation. Section 5... a corporation by another corporation in a distribution or transfer described in section 381(a) of...

26 CFR 1.9002-6 - Acquiring corporation.

Code of Federal Regulations, 2011 CFR

2011-04-01

... 26 Internal Revenue 13 2011-04-01 2011-04-01 false Acquiring corporation. 1.9002-6 Section 1.9002... (CONTINUED) INCOME TAXES (CONTINUED) General Actuarial Valuations § 1.9002-6 Acquiring corporation. Section 5... a corporation by another corporation in a distribution or transfer described in section 381(a) of...

A systematic review of treatment intensity in speech disorders.

PubMed

Kaipa, Ramesh; Peterson, Abigail Marie

2016-12-01

Treatment intensity (sometimes referred to as "practice amount") has been well-investigated in learning non-speech tasks, but its role in treating speech disorders has not been largely analysed. This study reviewed the literature regarding treatment intensity in speech disorders. A systematic search was conducted in four databases using appropriate search terms. Seven articles from a total of 580 met the inclusion criteria. The speech disorders investigated included speech sound disorders, dysarthria, acquired apraxia of speech and childhood apraxia of speech. All seven studies were evaluated for their methodological quality, research phase and evidence level. Evidence level of reviewed studies ranged from moderate to strong. With regard to the research phase, only one study was considered to be phase III research, which corresponds to the controlled trial phase. The remaining studies were considered to be phase II research, which corresponds to the phase where magnitude of therapeutic effect is assessed. Results suggested that higher treatment intensity was favourable over lower treatment intensity of specific treatment technique(s) for treating childhood apraxia of speech and speech sound (phonological) disorders. Future research should incorporate randomised-controlled designs to establish optimal treatment intensity that is specific to each of the speech disorders.

A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1).

PubMed

Attaie, A; Kim, E; Wilcox, E R; Lalwani, A K

1997-06-01

Waardenburg syndrome, an autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary disturbances and other developmental defects, is the most frequent form of congenital deafness in humans. Mutations in the PAX3 gene, a transcription factor expressed during embryonic development, is associated with WS types I and III. Here we report the identification of a novel acceptor splice site mutation (86-2 A-->G) in the paired domain of the human PAX3 gene causing WS type I in a three generation family.

Waardenburg syndrome--a case report.

PubMed

Bansal, Yuvika; Jain, Parul; Goyal, Gaurav; Singh, Malvika; Mishra, Chittranjan

2013-02-01

Waardenburg syndrome is a rare genetic disorder characterized by varying degree of deafness associated with pigmentary anomaly and defects of neural crest cell derived structures. Four subtypes (I-IV) with variable penetrance and gene expression of different clinical features have been described. We report a patient showing constellation of complete heterochromia, dystopia canthorum, white forelock, and synophrys. Other affected family relatives with heterochromia have been depicted in pedigree. Copyright © 2012 British Contact Lens Association. Published by Elsevier Ltd. All rights reserved.

Brain disorders and the biological role of music

PubMed Central

Clark, Camilla N.; Downey, Laura E.

2015-01-01

Despite its evident universality and high social value, the ultimate biological role of music and its connection to brain disorders remain poorly understood. Recent findings from basic neuroscience have shed fresh light on these old problems. New insights provided by clinical neuroscience concerning the effects of brain disorders promise to be particularly valuable in uncovering the underlying cognitive and neural architecture of music and for assessing candidate accounts of the biological role of music. Here we advance a new model of the biological role of music in human evolution and the link to brain disorders, drawing on diverse lines of evidence derived from comparative ethology, cognitive neuropsychology and neuroimaging studies in the normal and the disordered brain. We propose that music evolved from the call signals of our hominid ancestors as a means mentally to rehearse and predict potentially costly, affectively laden social routines in surrogate, coded, low-cost form: essentially, a mechanism for transforming emotional mental states efficiently and adaptively into social signals. This biological role of music has its legacy today in the disordered processing of music and mental states that characterizes certain developmental and acquired clinical syndromes of brain network disintegration. PMID:24847111

[Peripheral nervous system and speech disorders].

PubMed

Ferri, Lluís

2014-02-24

Disorders affecting the lower motor neurons in childhood, with a congenital or acquired aetiology, give rise to difficulties in neuromotor response and, therefore, motor disorders affecting speech in a period that is especially critical for the development of language. The low incidence of this pathology, its comorbidity with other brain conditions and its uncertain prognosis make it a particularly interesting area of study. The purpose of this work is to review the motor disorders affecting speech in flaccid dysarthria, together with its functional evaluation and speech therapy interventions. The study aims to carry out the clinical characterisation of the disorders affecting verbal production of a peripheral origin, and more specifically flaccid dysarthria and its respiratory, phonatory, resonance, articulatory and prosodic manifestations. The analysis then goes on to outline the functional evaluation and lines of intervention for its treatment are proposed. The clinical manifestations of flaccid dysarthria are very heterogeneous and range from very slight difficulties in articulation to severe disorders that seriously limit the capacity for verbal expression. In most cases, a functional examination yields valuable findings for its identification and classification, for determining the need for complementary evaluations and for establishing the most suitable programme of speech therapy. The guided participation of the family and the interdisciplinary approach are factors that play a decisive role in improving these processes.

26 CFR 1.9002-6 - Acquiring corporation.

Code of Federal Regulations, 2010 CFR

2010-04-01

... 26 Internal Revenue 13 2010-04-01 2010-04-01 false Acquiring corporation. 1.9002-6 Section 1.9002... (CONTINUED) INCOME TAXES General Actuarial Valuations § 1.9002-6 Acquiring corporation. Section 5(d) of the... corporation by another corporation in a distribution or transfer described in section 381(a) of the Code the...

19 CFR 148.33 - Articles acquired abroad.

Code of Federal Regulations, 2010 CFR

2010-04-01

... 19 Customs Duties 2 2010-04-01 2010-04-01 false Articles acquired abroad. 148.33 Section 148.33... Articles acquired abroad. (a) Exemption. Each returning resident is entitled to bring in free of duty and..., Harmonized Tariff Schedule of the United States (19 U.S.C. 1202), articles for his personal or household use...

19 CFR 148.33 - Articles acquired abroad.

Code of Federal Regulations, 2012 CFR

2012-04-01

... 19 Customs Duties 2 2012-04-01 2012-04-01 false Articles acquired abroad. 148.33 Section 148.33... Articles acquired abroad. (a) Exemption. Each returning resident is entitled to bring in free of duty and..., Harmonized Tariff Schedule of the United States (19 U.S.C. 1202), articles for his personal or household use...

19 CFR 148.33 - Articles acquired abroad.

Code of Federal Regulations, 2014 CFR

2014-04-01

... 19 Customs Duties 2 2014-04-01 2014-04-01 false Articles acquired abroad. 148.33 Section 148.33... Articles acquired abroad. (a) Exemption. Each returning resident is entitled to bring in free of duty and..., Harmonized Tariff Schedule of the United States (19 U.S.C. 1202), articles for his personal or household use...

19 CFR 148.33 - Articles acquired abroad.

Code of Federal Regulations, 2011 CFR

2011-04-01

... 19 Customs Duties 2 2011-04-01 2011-04-01 false Articles acquired abroad. 148.33 Section 148.33... Articles acquired abroad. (a) Exemption. Each returning resident is entitled to bring in free of duty and..., Harmonized Tariff Schedule of the United States (19 U.S.C. 1202), articles for his personal or household use...

19 CFR 148.33 - Articles acquired abroad.

Code of Federal Regulations, 2013 CFR

2013-04-01

... 19 Customs Duties 2 2013-04-01 2013-04-01 false Articles acquired abroad. 148.33 Section 148.33... Articles acquired abroad. (a) Exemption. Each returning resident is entitled to bring in free of duty and..., Harmonized Tariff Schedule of the United States (19 U.S.C. 1202), articles for his personal or household use...

[Role of laser peripheral iridotomy in pigmentary glaucoma and pigment dispersion syndrome: A review of the literature [French version

PubMed

Buffault, J; Leray, B; Bouillot, A; Baudouin, C; Labbé, A

2017-12-01

Pigment dispersion syndrome (PSD) is characterized by a structural abnormality of the posterior surface of the iris causing contact with the zonular fibers. It can lead to an open-angle glaucoma secondary to pigment dispersion into the trabecular meshwork. Laser peripheral iridotomy (PI) has been proposed as a treatment for pigmentary glaucoma (PG) and pigment dispersion syndrome (PDS) by reducing the dispersion of pigment. The goal of this review was to assess the effects of PI for PSD and PG. We included six randomized controlled trials and two cohort studies (286 eyes of 218 participants). Four trials included participants with PG, and 4 trials enrolled participants with PSD with or without elevated intraocular pressure (IOP). Among patients with PG, at an average of 9 months of follow-up, the mean difference in IOP between groups was 2.69mmHg less in the PI group (95 % CI: -6.05 to 0.67; 14 eyes). In patients with PDS, the average IOP was statistically lower after PI as compared to baseline (Student test, t=11.49, P<0.01). With regard to visual field progression in participants with GP, after an average follow-up of 28 months, the risk of progression was not influenced by PI (RR 1.00 95 %: CI 0.16 to 6.25; 32 eyes). No trials that enrolled patients with PSD showed a diminution of the risk of glaucoma conversion at mid- and long-term. PI decreases the biomechanical factor causing contact between the iris and zonular fibers and may lower IOP over the long-term. Nevertheless, the effects of PI on visual field changes or progression have not been established in PG and PDS. There is no scientific evidence as of yet to advocate PI as a treatment for PDS or PG. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Rehabilitation of Reading and Visual Exploration in Visual Field Disorders: Transfer or Specificity?

ERIC Educational Resources Information Center

Schuett, Susanne; Heywood, Charles A.; Kentridge, Robert W.; Dauner, Ruth; Zihl, Josef

2012-01-01

Reading and visual exploration impairments in unilateral homonymous visual field disorders are frequent and disabling consequences of acquired brain injury. Compensatory therapies have been developed, which allow patients to regain sufficient reading and visual exploration performance through systematic oculomotor training. However, it is still…

Myasthenia and related disorders of the neuromuscular junction.

PubMed

Spillane, Jennifer; Beeson, David J; Kullmann, Dimitri M

2010-08-01

Our understanding of transmission at the neuromuscular junction has increased greatly in recent years. We now recognise a wide variety of autoimmune and genetic diseases that affect this specialised synapse, causing muscle weakness and fatigue. These disorders greatly affect quality of life and rarely can be fatal. Myasthenia gravis is the most common disorder and is most commonly caused by autoantibodies targeting postsynaptic acetylcholine receptors. Antibodies to muscle-specific kinase (MuSK) are detected in a variable proportion of the remainder. Treatment is symptomatic and immunomodulatory. Lambert-Eaton myasthenic syndrome is caused by antibodies to presynaptic calcium channels, and approximately 50% of cases are paraneoplastic, most often related to small cell carcinoma of the lung. Botulism is an acquired disorder caused by neurotoxins produced by Clostridium botulinum, impairing acetylcholine release into the synaptic cleft. In addition, several rare congenital myasthenic syndromes have been identified, caused by inherited defects in presynaptic, synaptic basal lamina and postsynaptic proteins necessary for neuromuscular transmission. This review focuses on recent advances in the diagnosis and treatment of these disorders.

Male acquired hypogonadotropic hypogonadism: diagnosis and treatment.

PubMed

Salenave, Sylvie; Trabado, Sévérine; Maione, Luigi; Brailly-Tabard, Sylvie; Young, Jacques

2012-04-01

Acquired hypogonadotropic hypogonadism (AHH), contrary to congenital hypogonadotropic hypogonadism (CHH) is characterized by postnatal onset of disorders that damage or alter the function of gonadotropin-releasing hormone (GnRH) neurons and/or pituitary gonadotroph cells. AHH thus prevents the establishment of gonadotropin secretion at puberty, or its post-pubertal maintenance. Thus, postnatal AHH may prevent the onset of puberty or appear during pubertal development, but it usually emerges after the normal age of puberty. Although pituitary tumors, particularly prolactinoma, are the most common cause, sellar tumors or cyst of the hypothalamus or infundibulum, infiltrative, vascular, iron overload and other disorders may also cause AHH. Pituitary surgery and head trauma or cranial/pituitary radiation therapy are also usual causes of AHH. The clinical manifestations of AHH depend on age of onset, the degree of gonadotropin deficiency, the rapidity of its onset and the association to other pituitary function deficiencies or excess. Men with AHH have less stamina, decreased libido, erectile dysfunction and strength, and a worsened sense of well being leading to degraded quality of life. The physical examination is usually normal if hypogonadism is of recent onset. Diminished facial, body hair and muscle mass, fine facial wrinkles, gynecomastia, and hypotrophic testes are observed in long-standing and complete AHH. Spermatogenesis is impaired and the volume of ejaculate is decreased only when gonadotropins and testosterone levels are very low. Men with AHH may have normal or low serum LH and FSH concentrations, but normal gonadotropin values are inappropriate when associated with low serum testosterone. In the majority of AHH patients, serum inhibin B is "normal". The decrease of this sertolian hormone indicates a long-standing and severe gonadotropin deficiency. Symptoms, usually associated with significant testosterone deficiency in men with AHH, improve with

Questionnaires that screen for multiple sleep disorders.

PubMed

Klingman, Karen J; Jungquist, Carla R; Perlis, Michael L

2017-04-01

The goal of this review was to identify, describe, and evaluate the existing multiple sleep disorders screening questionnaires for their comprehensiveness, brevity, and psychometric quality. A systematic review was conducted using Medline/PubMed, cumulative index to nursing & allied health literature, health and psychosocial instruments and the "grey literature". Search terms were "sleep disorders, screening, questionnaires, and psychometrics". The scope of the search was limited to English language articles for adult age groups from 1989 through 2015. Of the n = 2812 articles identified, most were assessment or treatment guideline reviews, topical reviews, and/or empirical articles. Seven of the articles described multiple sleep disorders screening instruments. Of the identified instruments, two questionnaires (the Holland sleep Disorders questionnaire and sleep-50) were evaluated as comprehensive and one questionnaire (the global sleep assessment questionnaire [GSAQ]) was judged to be both comprehensive and efficient. The GSAQ was found to cover four of the six core intrinsic disorders, sleep insufficiency, and daytime sequela with 11 questions. Accordingly, the GSAQ is the most suitable for application as a general sleep disorders screener. Additional work is required to validate this instrument in the context of primary care. Finally, the future development of multiple sleep disorders screening questionnaires should not only cover all six intrinsic sleep disorders but also acquire some basic demographic information (age, sex, body mass index, presence/absence of bed partner, work status and shift) and some limited data regarding sleep sufficiency and the daytime consequences of sleep disturbance. Copyright © 2016 Elsevier Ltd. All rights reserved.

19 CFR 148.38 - Sale of articles acquired abroad.

Code of Federal Regulations, 2011 CFR

2011-04-01

... 19 Customs Duties 2 2011-04-01 2011-04-01 false Sale of articles acquired abroad. 148.38 Section... § 148.38 Sale of articles acquired abroad. An article brought in under the $800 or $1,600 exemption for articles acquired abroad for personal or household use and subsequently sold is not dutiable or subject to...

19 CFR 148.38 - Sale of articles acquired abroad.

Code of Federal Regulations, 2012 CFR

2012-04-01

... 19 Customs Duties 2 2012-04-01 2012-04-01 false Sale of articles acquired abroad. 148.38 Section... § 148.38 Sale of articles acquired abroad. An article brought in under the $800 or $1,600 exemption for articles acquired abroad for personal or household use and subsequently sold is not dutiable or subject to...

19 CFR 148.38 - Sale of articles acquired abroad.

Code of Federal Regulations, 2010 CFR

2010-04-01

... 19 Customs Duties 2 2010-04-01 2010-04-01 false Sale of articles acquired abroad. 148.38 Section... § 148.38 Sale of articles acquired abroad. An article brought in under the $800 or $1,600 exemption for articles acquired abroad for personal or household use and subsequently sold is not dutiable or subject to...

19 CFR 148.38 - Sale of articles acquired abroad.

Code of Federal Regulations, 2013 CFR

2013-04-01

... 19 Customs Duties 2 2013-04-01 2013-04-01 false Sale of articles acquired abroad. 148.38 Section... § 148.38 Sale of articles acquired abroad. An article brought in under the $800 or $1,600 exemption for articles acquired abroad for personal or household use and subsequently sold is not dutiable or subject to...

Clinical features of dog- and bat-acquired rabies in humans.

PubMed

Udow, Sean J; Marrie, Ruth Ann; Jackson, Alan C

2013-09-01

Clinical differences in rabies due to canine and bat rabies virus variants have been noted, but no detailed studies have been reported to support these observations. Using the Morbidity and Mortality Weekly Report and PubMed, we identified 142 case reports of rabies from North America, South America, Europe, Africa, and Asia. We systematically abstracted 126 selected data elements and compared clinical features and investigation results in dog- and bat-acquired cases of rabies. Survivors and cases acquired from aerosolized viral exposure or tissue/organ transplant were excluded (n = 20). Of 122 cases, 49 (40.2%) were dog-acquired and 54 (44.3%) were bat-acquired. Bat-acquired cases of rabies were more often misdiagnosed and lacked a bite history. Encephalopathy, hydrophobia, and aerophobia were more common in dog-acquired rabies. Abnormal cranial nerve, motor, and sensory examinations, tremor, myoclonus, local sensory symptoms, symptoms at the exposure site, and local symptoms in the absence of a bite or scratch were more common in patients with bat-acquired rabies, as was increased cerebrospinal fluid protein (P = .031). Patients with paralytic rabies had longer survival times than those with encephalitic rabies, and also had shorter incubation periods if they had received postexposure prophylaxis. Clinical differences in dog- and bat-acquired rabies may reflect differences in the route of viral spread of rabies virus variants in the nervous system, although certain variants could cause more severe dysfunction in neuronal subpopulations. Recognition that bat-acquired rabies may present with different clinical manifestations than dog-acquired rabies may help improve the early diagnosis of rabies.

[Rhythm disorders and cardiac crypto-malformations].

PubMed

Davy, J M; Raczka, F; Cung, T T; Combes, N; Bortone, A; Gaty, D

2005-12-01

Faced with a cardiac arrhythmia occuring in an apparently healthy heart, it is necessary to perform an anatomical investigation to detect any unsuspected anomalies. Congenital cardiopathy must certainly be excluded, as this is often responsible for rhythm disorders and/or cardiac conduction defects. Similarly, any acquired conditions, cardiomyopathy, or cardiac tumour must be sought. However, the possibility should always be considered of a minimal congenital malformation, which could be repsonsible for: any type of cardiac arrhythmia: rhythm disorder or conduction defect at the atrial, junctional or ventricular level, with a benign or serious prognosis. Unexpected therapeutic difficulties during radiofrequency ablation procedures or at implantation of pacemakers or defibrillators. Together with rhythm studies, the investigation of choice is high quality imaging, either the classic left or right angiography or the more modern cardiac CT or intracardiac mapping.

Non-speech oro-motor exercise use in acquired dysarthria management: regimes and rationales.

PubMed

Mackenzie, Catherine; Muir, Margaret; Allen, Carolyn

2010-01-01

Non-speech oro-motor exercises (NSOMExs) are described in speech and language therapy manuals and are thought to be much used in acquired dysarthria intervention, though there is no robust evidence of an influence on speech outcome. Opinions differ as to whether, and for which dysarthria presentations, NSOMExs are appropriate. The investigation sought to collect development-phase data, in accordance with the Medical Research Council (MRC) evaluation of complex interventions. The aims were to establish the extent of use of NSOMExs in acquired disorders, the exercise regimes in use for dysarthria, with which dysarthric populations, and the anticipated clinical outcomes. A further aim was to determine the influencing rationales where NSOMExs were or were not used in dysarthria intervention. Speech and language therapists throughout Scotland, Wales, and Northern Ireland, working with adult-acquired dysarthria, were identified by their service heads. They received postal questionnaires comprising 21 closed and two open questions, covering respondent biographics, use of NSOMExs, anticipated clinical outcomes, and practice influencing rationales. One hundred and ninety-one (56% response) completed questionnaires were returned. Eighty-one per cent of respondents used NSOMExs in dysarthria. There was no association with years of speech and language therapy experience. Those who used and those who did not use NSOMExs provided similar influencing rationales, including evidence from their own practice, and Higher Education Institute teaching. More experienced speech and language therapists were more likely than those more recently qualified to be guided by results from their own practice. Input from the attended Higher Education Institute was more influential for those less experienced than for those more experienced. Clinical outcome aims were not confined to speech, but also included improvements in movement, sensory awareness, appearance, emotional status, dysphagia and

Preschoolers acquire general knowledge by sharing in pretense.

PubMed

Sutherland, Shelbie L; Friedman, Ori

2012-01-01

Children acquire general knowledge about many kinds of things, but there are few known means by which this knowledge is acquired. In this article, it is proposed that children acquire generic knowledge by sharing in pretend play. In Experiment 1, twenty-two 3- to 4-year-olds watched pretense in which a puppet represented a "nerp" (an unfamiliar kind of animal). For instance, in one scenario, the nerp ate and disliked a carrot. When subsequently asked generic questions about real nerps, children's responses suggested that they had learned general facts (e.g., nerps dislike carrots). In Experiment 2, thirty-two 4- to 5-year-olds learned from scenarios lacking pretend speech or sound effects. The findings reveal a long overlooked means by which children can acquire generic knowledge. © 2012 The Authors. Child Development © 2012 Society for Research in Child Development, Inc.

Pigmentary changes and atopic dermatitis in a patient with Seckel syndrome.

PubMed

Brackeen, Amy; Babb-Tarbox, Michelle; Smith, Jennifer

2007-01-01

Seckel syndrome is a very rare form of primordial dwarfism characterized by antenatal and postnatal growth delay, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar area, small chin, microcephaly, deformed ears lacking lobules, skeletal malformations, mental retardation, and developmental delay. This syndrome has been described with associated disorders of orthopedic, neurologic, hematologic, cardiac, and ocular systems; however, only a few reports mention dermatologic involvement. We describe a 5-year-old girl with classic Seckel syndrome who presented with moderately severe atopic dermatitis and diffuse hypopigmented macules and papules.

NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).

PubMed

Schorderet, Daniel F; Escher, Pascal

2009-11-01

NR2E3, also called photoreceptor-specific nuclear receptor (PNR), is a transcription factor of the nuclear hormone receptor superfamily whose expression is uniquely restricted to photoreceptors. There, its physiological activity is essential for proper rod and cone photoreceptor development and maintenance. Thirty-two different mutations in NR2E3 have been identified in either homozygous or compound heterozygous state in the recessively inherited enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), and clumped pigmentary retinal degeneration (CPRD). The clinical phenotype common to all these patients is night blindness, rudimental or absent rod function, and hyperfunction of the "blue" S-cones. A single p.G56R mutation is inherited in a dominant manner and causes retinitis pigmentosa (RP). We have established a new locus-specific database for NR2E3 (www.LOVD.nl/eye), containing all reported mutations, polymorphisms, and unclassified sequence variants, including novel ones. A high proportion of mutations are located in the evolutionarily-conserved DNA-binding domains (DBDs) and ligand-binding domains (LBDs) of NR2E3. Based on homology modeling of these NR2E3 domains, we propose a structural localization of mutated residues. The high variability of clinical phenotypes observed in patients affected by NR2E3-linked retinal degenerations may be caused by different disease mechanisms, including absence of DNA-binding, altered interactions with transcriptional coregulators, and differential activity of modifier genes.

Legionella pneumophila community-acquired pneumonia (CAP) in a post-splenectomy patient with myelodysplastic syndrome (MDS).

PubMed

Cunha, Burke A; Hage, Jean E

2012-01-01

Legionnaire's disease is a cause of community-acquired pneumonia (CAP) in normal hosts, but those with impaired cell-mediated immunity (CMI) and T-lymphocyte function are particularly predisposed to Legionella species CAP. Myelodysplastic syndrome (MDS) is a disorder of the elderly that is associated with impaired CMI. Cases of MDS or Legionella species CAP are rare. Splenectomized patients primarily have impaired humoral immunity and B-lymphocyte function, and, to a lesser extent, some decrease in CMI. For this reason, Legionnaire's disease has rarely been reported in splenectomized patients. We believe this to be the first reported case of Legionella pneumophila CAP in an asplenic patient with MDS. Copyright © 2012 Elsevier Inc. All rights reserved.

Aquatic Toxicity Information Retrieval Data Base (ACQUIRE). Data file

DOE Office of Scientific and Technical Information (OSTI.GOV)

Not Available

The purpose of Acquire is to provide scientists and managers quick access to a comprehensive, systematic, computerized compilation of aquatic toxicity data. Scientific papers published both nationally and internationally on the toxicity of chemicals to aquatic organisms and plants are collected and reviewed for ACQUIRE. Independently compiled data files that meet ACQUIRE parameter and quality assurance criteria are also included. Selected toxicity test results and related testing information for any individual chemical from laboratory and field aquatic toxicity effects are included for tests with freshwater and marine organisms. The total number of data records in ACQUIRE is now over 105,300.more » This includes data from 6000 references, for 5200 chemicals and 2400 test species. A major data file, Acute Toxicity of Organic Chemicals (ATOC), has been incorporated into ACQUIRE. The ATOC file contains laboratory acute test data on 525 organic chemicals using juvenile fathead minnows.« less

International recommendations on the diagnosis and treatment of patients with acquired hemophilia A

PubMed Central

Huth-Kühne, Angela; Baudo, Francesco; Collins, Peter; Ingerslev, Jørgen; Kessler, Craig M.; Lévesque, Hervé; Castellano, Maria Eva Mingot; Shima, Midori; St-Louis, Jean

2009-01-01

Acquired hemophilia A (AHA) is a rare bleeding disorder characterized by autoantibodies directed against circulating coagulation factor (F) VIII. Typically, patients with no prior history of a bleeding disorder present with spontaneous bleeding and an isolated prolonged aPTT. AHA may, however, present without any bleeding symptoms, therefore an isolated prolonged aPTT should always be investigated further irrespective of the clinical findings. Control of acute bleeding is the first priority, and we recommend first-line therapy with bypassing agents such as recombinant activated FVII or activated prothrombin complex concentrate. Once the diagnosis has been achieved, immediate autoantibody eradication to reduce subsequent bleeding risk should be performed. We recommend initial treatment with corticosteroids or combination therapy with corticosteroids and cyclophosphamide and suggest second-line therapy with rituximab if first-line therapy fails or is contraindicated. In contrast to congenital hemophilia, no comparative studies exist to support treatment recommendations for patients with AHA, therefore treatment guidance must rely on the expertise and clinical experience of specialists in the field. The aim of this document is to provide a set of international practice guidelines based on our collective clinical experience in treating patients with AHA and contribute to improved care for this patient group. PMID:19336751

Epidemiology of acquired aplastic anaemia in Pakistan.

PubMed

Ehsan, Ayesha; Shah, Shahida Amjad Riaz; Ibrahim, Tayyaba

2011-01-01

Acquired aplastic anaemia is a rare disease which results in morbidity and mortality at a young age. This study was carried out to determine the clinical presentation, haematological parameters and association factors of acquired aplastic anaemia in a cohort of Pakistani patients. This was a cross-sectional study conducted at Haematology Department, Shaikh Zayed Hospital, Lahore over 7 years from June 2000 to July 2007. Eighty-two patients of acquired aplastic anaemia were enrolled in the study by non-probability purposive sampling. Their diagnosis was confirmed by complete blood count, bone marrow aspirate and trephine biopsy. The cohort was classified on the basis of severity and the epidemiological, clinical and haematological parameters were analysed. Of the 82 enrolled patients of acquired aplastic anaemia, 49 (59.8%) were males and 33 (40.2%) were females. Mean age of the patients was 27.93 +/- 18.7 years with a range of 1-80 years. The male to female ratio was 1.48:1. Bone marrow cellularity was less than 25 % in 31 (38.0%) cases and between 25-30% in 51 (62%) of patients. Most of the cases were clinically severe aplastic anaemia (68%). In 62 (76%) of the cases no association factors predisposing to aplastic anaemia could be identified. Acquired Aplastic anaemia is a disease of all ages. In the second decade and the elderly predominantly severe clinical stages were seen. Males presented at a younger age while females presented at all ages with a somewhat similar incidence. No association factors of Aplastic Anaemia could be identified in majority of the patients.

Disordered models of acquired dyslexia

NASA Astrophysics Data System (ADS)

Virasoro, M. A.

We show that certain specific correlations in the probability of errors observed in dyslexic patients that are normally explained by introducing additional complexity in the model for the reading process are typical of any Neural Network system that has learned to deal with a quasiregular environment. On the other hand we show that in Neural Networks the more regular behavior does not become naturally the default behavior.

Autism Spectrum Disorders (ASD) in Blind Children: Very High Prevalence, Potentially Better Outlook

ERIC Educational Resources Information Center

Jure, Rubin; Pogonza, Ramón; Rapin, Isabelle

2016-01-01

Autism spectrum disorders affected 19 of 38 unselected children at a school for the blind in Cordoba, Argentina. Autism was linked to total congenital blindness, not blindness' etiology, acquired or incomplete blindness, sex, overt brain damage, or socioeconomic status. Autism "recovery," had occurred in 4 verbal children. Congenital…

A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg Syndrome type 2.

PubMed

Wang, C; Kim, E; Attaie, A; Smith, T N; Wilcox, E R; Lalwani, A K

1998-02-01

Waardenburg Syndrome (WS) is an autosomal-dominant disorder phenotypically characterized by sensorineural hearing loss and pigmentary disturbances. Presence of dystopia canthorum is indicative of WS type 1 and results from defects in the PAX3 gene, whereas normally located medial canthi is characteristic of type 2 WS (WS2) and is associated with defects in the microphthalmia-associated transcription factor (MIFT) gene. Here a neutral polymorphism is reported in the PAX3 gene (T315K) in a family with WS2. Copyright 1998 Academic Press Limited

Language disorders in children with central nervous system injury

PubMed Central

Dennis, Maureen

2011-01-01

Children with injury to the central nervous system (CNS) exhibit a variety of language disorders that have been described by members of different disciplines, in different journals, using different descriptors and taxonomies. This paper is an overview of language deficits in children with CNS injury, whether congenital or acquired after a period of normal development. It first reviews the principal CNS conditions associated with language disorders in childhood. It then describes a functional taxonomy of language, with examples of the phenomenology and neurobiology of clinical deficits in children with CNS insults. Finally, it attempts to situate language in the broader realm of cognition and in current theoretical accounts of embodied cognition. PMID:20397297

'All the better for not seeing you': effects of communicative context on the speech of an individual with acquired communication difficulties.

PubMed

Bruce, Carolyn; Braidwood, Ursula; Newton, Caroline

2013-01-01

Evidence shows that speakers adjust their speech depending on the demands of the listener. However, it is unclear whether people with acquired communication disorders can and do make similar adaptations. This study investigated the impact of different conversational settings on the intelligibility of a speaker with acquired communication difficulties. Twenty-eight assessors listened to recordings of the speaker reading aloud 40 words and 32 sentences to a listener who was either face-to-face or unseen. The speaker's ability to convey information was measured by the accuracy of assessors' orthographic transcriptions of the words and sentences. Assessors' scores were significantly higher in the unseen condition for the single word task particularly if they had heard the face-to-face condition first. Scores for the sentence task were significantly higher in the second presentation regardless of the condition. The results from this study suggest that therapy conducted in situations where the client is not able to see their conversation partner may encourage them to perform at a higher level and increase the clarity of their speech. Readers will be able to describe: (1) the range of conversational adjustments made by speakers without communication difficulties; (2) differences between these tasks in offering contextual information to the listener; and (3) the potential for using challenging communicative situations to improve the performance of adults with communication disorders. Copyright © 2013 Elsevier Inc. All rights reserved.

Combined use of monopolar radiofrequency and transdermal drug delivery in the treatment of melasma.

PubMed

Cameli, Norma; Abril, Elva; Mariano, Maria; Berardesca, Enzo

2014-07-01

Melasma is a common acquired pigmentary disorder that has a considerable psychological impact on the patient. The recurrent and refractory nature of this condition makes it difficult for treatment. We aim to evaluate the efficacy and safety of a combined system that simultaneously uses monopolar radiofrequency (RF) and transdermal drug delivery of phytocomplex containing 1% kojic acid in the treatment of melasma. Fifty patients affected by melasma underwent 6 sessions of treatment at 1-week intervals. The outcome was evaluated before treatment (T0) and 1 month (T1) and 6 months (T2) after treatment using the Melasma Area and Severity Index score, a Mexameter, and Visioface devices for digital and ultraviolet computerized image analysis of skin color. The image analysis showed that hyperpigmentation was significantly reduced at T1 and T2 compared with baseline. Melasma Area and Severity Index score, the average melanin score, and the average erythema values showed a significant reduction. No side effects were observed or reported. This study describes the first report of improvement in melasma through the combined use of monopolar RF with transdermal delivery of depigmenting agents. This could be a safe, tolerable, and effective alternative tool for the treatment of melasma.

Tranexamic Acid in the Treatment of Melasma: A Review of the Literature.

PubMed

Perper, Marina; Eber, Ariel Eva; Fayne, Rachel; Verne, Sebastian Hugo; Magno, Robert James; Cervantes, Jessica; ALharbi, Mana; ALOmair, Ibrahim; Alfuraih, Abdulkarem; Nouri, Keyvan

2017-06-01

Melasma is a common acquired pigmentary disorder marked by irregular hyperpigmented macules or patches and most commonly occurs in women of darker skin color. It is a chronic often-relapsing condition that causes negative psychosocial effects in those affected. Current treatments such as hydroquinone, kojic acid, and retinoids, among others, demonstrate variable efficacy and side-effect profiles. We conducted a comprehensive literature review examining the use of tranexamic acid (TA), a well-known anti-fibrinolytic agent, in the treatment of melasma. TA delivered orally, topically, and through physical methods works via the inhibition of ultraviolet (UV)-induced plasmin activity in keratinocytes. Predefined search terms were entered into PubMed. Articles were then independently screened by two authors to include only those written in the English language and relating to human subjects with at least mild melasma. The search identified 28 articles, 15 of which met the criteria for full review. The review revealed that TA treatment for melasma is equally effective or more effective than other standard therapies and may induce fewer side effects. Our comprehensive review suggests that TA may be a promising treatment option for melasma because of its demonstrated effectiveness alone and in combination with other modalities as well as its limited side-effect profile.

Psychiatric diagnosis and antiretroviral adherence among adolescent Medicaid beneficiaries diagnosed with human immunodeficiency virus/acquired immunodeficiency syndrome.

PubMed

Walkup, James; Akincigil, Ayse; Bilder, Scott; Rosato, Nancy Scotto; Crystal, Stephen

2009-05-01

Research on adults with human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS) has suggested that psychiatric and substance abuse comorbidities are prevalent in this population, and that these may sometimes be associated with use of antiretroviral therapy (ART) and adherence. For adolescents with HIV/AIDS, much less is known about patterns of mental health comorbidity, and even fewer data are available that compare them to socioeconomically comparable youth without HIV/AIDS. Using medical and pharmacy data from 1999 to 2000 Medicaid claims (Medicaid Analytic Extract) from 4 states for beneficiaries aged 12 to 17 years, we identified 833 youth under care for HIV/AIDS meeting study criteria within the HIV/AIDS group, receipt of ART was less likely for youth who had diagnoses of substance abuse, conduct disorders, or emotional disorders than for others. Once ART was initiated, adherence did not significantly differ between adolescents living with a psychiatric condition, and those who were not, with the exception of an association between conduct disorder and lower adherence. Among those with HIV/AIDS, ART use and adherence were more common among youth with higher rates of service use, regardless of psychiatric status. Associations between race and adherence varied by gender: compared with their white counterparts, minority girls had lower, and minority boys had higher adherence.

Exercise caution: Over-exercise is associated with suicidality among individuals with disordered eating

PubMed Central

Smith, April R.; Fink, Erin L.; Anestis, Michael D.; Ribeiro, Jessica D.; Gordon, Kathryn H.; Davis, Heather; Keel, Pamela K.; Bardone-Cone, Anna M.; Peterson, Carol B.; Klein, Marjorie H.; Crow, Scott; Mitchell, James E.; Crosby, Ross D.; Wonderlich, Stephen A.; le Grange, Daniel; Joiner, Thomas E.

2017-01-01

We conducted four studies to examine the relationship between over-exercise and suicidality. Study 1 investigated whether over-exercise predicted suicidal behavior after controlling for other eating disorder behaviors in a patient sample of 204 women (144 with Diagnostic and Statistical Manual of Mental Disorders, 4th Edition (DSM-IV) Bulimia Nervosa [BN]). Study 2 tested the prospective association between over-exercise and acquired capability for suicide (ACS) in a sample of 171 college students followed for 3–4 weeks. Study 3 investigated whether pain insensitivity accounted for the relationship between over-exercise and ACS in a new sample of 467 college students. Study 4 tested whether ACS accounted for the relationship between over-exercise and suicidal behavior in a sample of 512 college students. In Study 1, after controlling for key covariates, over-exercise was the only disordered eating variable that maintained a significant relationship with suicidal behavior. In Study 2, Time 1 over-exercise was the only disordered eating behavior that was associated with Time 2 ACS. In Study 3, pain insensitivity accounted for the relationship between over-exercise and ACS. In Study 4, ACS accounted for the relationship between over-exercise and suicidal behavior. Over-exercise appears to be associated with suicidal behavior, an association accounted for by pain insensitivity and the acquired capability for suicide; notably, this association was found across a series of four studies with different populations. PMID:23219104

Brain disorders and the biological role of music.

PubMed

Clark, Camilla N; Downey, Laura E; Warren, Jason D

2015-03-01

Despite its evident universality and high social value, the ultimate biological role of music and its connection to brain disorders remain poorly understood. Recent findings from basic neuroscience have shed fresh light on these old problems. New insights provided by clinical neuroscience concerning the effects of brain disorders promise to be particularly valuable in uncovering the underlying cognitive and neural architecture of music and for assessing candidate accounts of the biological role of music. Here we advance a new model of the biological role of music in human evolution and the link to brain disorders, drawing on diverse lines of evidence derived from comparative ethology, cognitive neuropsychology and neuroimaging studies in the normal and the disordered brain. We propose that music evolved from the call signals of our hominid ancestors as a means mentally to rehearse and predict potentially costly, affectively laden social routines in surrogate, coded, low-cost form: essentially, a mechanism for transforming emotional mental states efficiently and adaptively into social signals. This biological role of music has its legacy today in the disordered processing of music and mental states that characterizes certain developmental and acquired clinical syndromes of brain network disintegration. © The Author (2014). Published by Oxford University Press.

Perisylvian GABA levels in schizophrenia and bipolar disorder.

PubMed

Atagün, Murat İlhan; Şıkoğlu, Elif Muazzez; Soykan, Çağlar; Serdar Süleyman, Can; Ulusoy-Kaymak, Semra; Çayköylü, Ali; Algın, Oktay; Phillips, Mary Louise; Öngür, Dost; Moore, Constance Mary

2017-01-10

The aim of this study is to measure GABA levels of perisylvian cortices in schizophrenia and bipolar disorder patients, using proton magnetic resonance spectroscopy ( 1 H-MRS). Patients with schizophrenia (n=25), bipolar I disorder (BD-I; n=28) and bipolar II disorder (BD-II; n=20) were compared with healthy controls (n=30). 1 H-MRS data was acquired using a Siemens 3T whole body scanner to quantify right and left perisylvian structures' (including superior temporal lobes) GABA levels. Right perisylvian GABA values differed significantly between groups [χ 2 =9.62, df: 3, p=0.022]. GABA levels were significantly higher in the schizophrenia group compared with the healthy control group (p=0.002). Furthermore, Chlorpromazine equivalent doses of antipsychotics correlated with right hemisphere GABA levels (r 2 =0.68, p=0.006, n=33). GABA levels are elevated in the right hemisphere in patients with schizophrenia in comparison to bipolar disorder and healthy controls. The balance between excitatory and inhibitory controls over the cortical circuits may have direct relationship with GABAergic functions in auditory cortices. In addition, GABA levels may be altered by brain regions of interest, psychotropic medications, and clinical stage in schizophrenia and bipolar disorder. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Perisylvian GABA levels in schizophrenia and bipolar disorder

PubMed Central

ATAGÜN, Murat İlhan; ŞIKOĞLU, Elif Muazzez; SOYKAN, Çağlar; CAN, Serdar Süleyman; ULUSOY-KAYMAK, Semra; ÇAYKÖYLÜ, Ali; ALGIN, Oktay; PHILLIPS, Mary Louise; ÖNGÜR, Dost; MOORE, Constance Mary

2016-01-01

The aim of this study is to measure GABA levels of perisylvian cortices in schizophrenia and bipolar disorder patients, using proton magnetic resonance spectroscopy (1H-MRS). Patients with schizophrenia (n=25), bipolar I disorder (BD-I; n=28) and bipolar II disorder (BD-II; n=20) were compared with healthy controls (n=30). 1H-MRS data was acquired using a Siemens 3 Tesla whole body scanner to quantify right and left perisylvian structures’ (including superior temporal lobes) GABA levels. Right perisylvian GABA values differed significantly between groups [χ2=9.62, df: 3, p = 0.022]. GABA levels were significantly higher in the schizophrenia group compared with the healthy control group (p=0.002). Furthermore, Chlorpromazine equivalent doses of antipsychotics correlated with right hemisphere GABA levels (r2=0.68, p=0.006, n=33). GABA levels are elevated in the right hemisphere in patients with schizophrenia in comparison to bipolar disorder and healthy controls. The balance between excitatory and inhibitory controls over the cortical circuits may have direct relationship with GABAergic functions in auditory cortices. In addition, GABA levels may be altered by brain regions of interest, psychotropic medications, and clinical stage in schizophrenia and bipolar disorder. PMID:27890741

Late-onset obsessive compulsive disorder associated with possible gliomatosis cerebri.

PubMed

Kumar, Vineet; Chakrabarti, Subho; Modi, Manish; Sahoo, Manoj

2009-01-01

Onset of obsessive-compulsive disorder (OCD) after the age of 50 years is rare, and should alert the physician to possible "organic" causes of OCD. These include infections, degenerative disorders, brain injury and cerebrovascular lesions, principally involving the frontal lobes and basal ganglia. The current patient had obsessive images, anxiety, auditory hallucinations and seizures following (possible) gliomatosis cerebri, with onset around 69 years of age. The atypical presentation, lesions involving the cortical-basal ganglia-thalamic-cortical circuit and the association with neurological signs/symptoms, was characteristic. However, late-onset OCD has not been commonly reported with diffuse lesions, and the association with gliomatosis cerebri is not known. This patient's case illustrates the need for careful screening of older patients with recently acquired OCD, and for further systematic study of OCD in the broad range of neuropsychiatric disorders affecting the elderly.

[Diagnostics and antimicrobial therapy of severe community-acquired pneumonia].

PubMed

Sinopalnikov, A I; Zaitsev, A A

2015-04-01

In the current paper authors presented the latest information concerning etiology of severe community-acquired pneumonia. Most cases are caused by a relatively small number ofpathogenic bacterial and viral natures. The frequency of detection of various pathogens of severe community-acquired pneumonia may vary greatly depending on the region, season and clinical profile of patients, availability of relevant risk factors. Authors presented clinical characteristics of severe community-acquired pneumonia and comparative evaluation of a number of scales to assess the risk of adverse outcome of the disease. Diagnosis of severe community-acquired pneumonia includes the following: collecting of epidemiological history, identification of pneumonia, detection of sepsis and identification of multiple organ dysfunction syndrome, detection of acute respiratory failure, assessment of comorbidity. Authors gave recommendations concerning evaluation of the clinical manifestations of the disease, the use of instrumental and laboratory methods for diagnosis of severe community-acquired pneumonia. To select the mode of antimicrobial therapy is most important local monitoring antimicrobial resistance of pathogens. The main criteria for the effectiveness of treatment are to reduce body temperature, severe intoxication, respiratory and organ failure.

Extensive Drug Resistance Acquired During Treatment of Multidrug-Resistant Tuberculosis

PubMed Central

Cegielski, J. Peter; Dalton, Tracy; Yagui, Martin; Wattanaamornkiet, Wanpen; Volchenkov, Grigory V.; Via, Laura E.; Van Der Walt, Martie; Tupasi, Thelma; Smith, Sarah E.; Odendaal, Ronel; Leimane, Vaira; Kvasnovsky, Charlotte; Kuznetsova, Tatiana; Kurbatova, Ekaterina; Kummik, Tiina; Kuksa, Liga; Kliiman, Kai; Kiryanova, Elena V.; Kim, HeeJin; Kim, Chang-ki; Kazennyy, Boris Y.; Jou, Ruwen; Huang, Wei-Lun; Ershova, Julia; Erokhin, Vladislav V.; Diem, Lois; Contreras, Carmen; Cho, Sang Nae; Chernousova, Larisa N.; Chen, Michael P.; Caoili, Janice Campos; Bayona, Jaime; Akksilp, Somsak; Calahuanca, Gloria Yale; Wolfgang, Melanie; Viiklepp, Piret; Vasilieva, Irina A.; Taylor, Allison; Tan, Kathrine; Suarez, Carmen; Sture, Ingrida; Somova, Tatiana; Smirnova, Tatyana G.; Sigman, Erika; Skenders, Girts; Sitti, Wanlaya; Shamputa, Isdore C.; Riekstina, Vija; Pua, Kristine Rose; Therese, M.; Perez, C.; Park, Seungkyu; Norvaisha, Inga; Nemtsova, Evgenia S.; Min, Seonyeong; Metchock, Beverly; Levina, Klavdia; Lei, Yung-Chao; Lee, Jongseok; Larionova, Elena E.; Lancaster, Joey; Jeon, Doosoo; Jave, Oswaldo; Khorosheva, Tatiana; Hwang, Soo Hee; Huang, Angela Song-En; Gler, M. Tarcela; Dravniece, Gunta; Eum, Seokyong; Demikhova, Olga V.; Degtyareva, Irina; Danilovits, Manfred; Cirula, Anda; Cho, Eunjin; Cai, Ying; Brand, Jeanette; Bonilla, Cesar; Barry, Clifton E.; Asencios, Luis; Andreevskaya, Sofia N.; Akksilp, Rattanawadee

2014-01-01

Background. Increasing access to drugs for the treatment of multidrug-resistant (MDR) tuberculosis is crucial but could lead to increasing resistance to these same drugs. In 2000, the international Green Light Committee (GLC) initiative began to increase access while attempting to prevent acquired resistance. Methods. To assess the GLC's impact, we followed adults with pulmonary MDR tuberculosis from the start to the end of treatment with monthly sputum cultures, drug susceptibility testing, and genotyping. We compared the frequency and predictors of acquired resistance to second-line drugs (SLDs) in 9 countries that volunteered to participate, 5 countries that met GLC criteria, and 4 countries that did not apply to the GLC. Results. In total, 832 subjects were enrolled. Of those without baseline resistance to specific SLDs, 68 (8.9%) acquired extensively drug-resistant (XDR) tuberculosis, 79 (11.2%) acquired fluoroquinolone (FQ) resistance, and 56 (7.8%) acquired resistance to second-line injectable drugs (SLIs). The relative risk (95% confidence interval [CI]) of acquired resistance was lower at GLC-approved sites: 0.27 (.16–.47) for XDR tuberculosis, 0.28 (.17–.45) for FQ, and 0.15 (.06–.39) to 0.60 (.34–1.05) for 3 different SLIs. The risk increased as the number of potentially effective drugs decreased. Controlling for baseline drug resistance and differences between sites, the odds ratios (95% CIs) were 0.21 (.07–.62) for acquired XDR tuberculosis and 0.23 (.09–.59) for acquired FQ resistance. Conclusions. Treatment of MDR tuberculosis involves substantial risk of acquired resistance to SLDs, increasing as baseline drug resistance increases. The risk was significantly lower in programs documented by the GLC to meet specific standards. PMID:25057101

Brain Volumetric Correlates of Autism Spectrum Disorder Symptoms in Attention Deficit/Hyperactivity Disorder

PubMed Central

O’Dwyer, Laurence; Tanner, Colby; van Dongen, Eelco V.; Greven, Corina U.; Bralten, Janita; Zwiers, Marcel P.; Franke, Barbara; Oosterlaan, Jaap; Heslenfeld, Dirk; Hoekstra, Pieter; Hartman, Catharina A.; Rommelse, Nanda; Buitelaar, Jan K.

2014-01-01

Autism spectrum disorder (ASD) symptoms frequently occur in subjects with attention deficit/hyperactivity disorder (ADHD). While there is evidence that both ADHD and ASD have differential structural correlates, no study to date has investigated these structural correlates within a framework that robustly accounts for the phenotypic overlap between the two disorders. The presence of ASD symptoms was measured by the parent-reported Children’s Social and Behavioural Questionnaire (CSBQ) in ADHD subjects (n = 180), their unaffected siblings (n = 118) and healthy controls (n = 146). ADHD symptoms were assessed by a structured interview (K-SADS-PL) and the Conners’ ADHD questionnaires. Whole brain T1-weighted MPRAGE images were acquired and the structural MRI correlates of ASD symptom scores were analysed by modelling ASD symptom scores against white matter (WM) and grey matter (GM) volumes using mixed effects models which controlled for ADHD symptom levels. ASD symptoms were significantly elevated in ADHD subjects relative to both controls and unaffected siblings. ASD scores were predicted by the interaction between WM and GM volumes. Increasing ASD score was associated with greater GM volume. Equivocal results from previous structural studies in ADHD and ASD may be due to the fact that comorbidity has not been taken into account in studies to date. The current findings stress the need to account for issues of ASD comorbidity in ADHD. PMID:24979066

An Internet-Based Telerehabilitation System for the Assessment of Motor Speech Disorders: A Pilot Study

ERIC Educational Resources Information Center

Hill, Anne J.; Theodoros, Deborah G.; Russell, Trevor G.; Cahill, Louise M.; Ward, Elizabeth C.; Clark, Kathy M.

2006-01-01

Purpose: This pilot study explored the feasibility and effectiveness of an Internet-based telerehabilitation application for the assessment of motor speech disorders in adults with acquired neurological impairment. Method: Using a counterbalanced, repeated measures research design, 2 speech-language pathologists assessed 19 speakers with…

THE ORGANOPHOSPHOROUS INSECTICIDE FENTHION DOES NOT AFFECT PHAGOCYTOSIS OF ROD OUTER SEGMENTS BY RETINAL PIGMENT EPITHELIUM CELLS IN CULTURE.

EPA Science Inventory

:
Exposure to the organophosphorous insecticide fenthion has been associated with retinal degeneration in occupational studies. It has also been associated with pigmentary changes of the retina. Because retinal degeneration and pigmentary changes may be due to dysfunction of t...

The Possible Role of Transplacentally-Acquired Antibodies to Infectious Agents, With Molecular Mimicry to Nervous System Sialic Acid Epitopes, as Causes of Neuromental Disorders: Prevention and Vaccine Implications

PubMed Central

Nahmias, André J.; Nahmias, Susanne Beckman; Danielsson, Dan

2006-01-01

Proof of causality of most neuromental disorders (NMD's) is largely unavailable. Lessons from four-decade investigations of the epidemiology, immunology, pathogenesis, prevention and therapy of perinatal infectious agents, which invade directly the nervous system, have led us to propose a new indirect effect hypothesis: maternal transplacentally-acquired antibodies, to agents with epitope molecular mimicry with the developing nervous system, can cross the fetus/infant's blood–nervous system barriers to cause NMD's, clinically manifest years later.Further rationale is provided by relevant evolutionary/developmental (EVO–DEVO) considerations—applicable also to some vaccines. The hypothesis is being tested in: (a) older pregnancy studies with available maternal and newborn sera, and follow-up of the progeny for NMD's; and (b) NMD registry individuals linked to their stored newborn blood spots. Preliminary results support a possible role for schizophrenia of high-tittered antibodies to some agents (toxoplasma, influenza and herpes simplex type 2 virus).A model that includes likely genetic and postnatal influences is schematized and a list of putative agents and factors, based on varying rationales, is tabulated. In case pilot studies are confirmed, the identified agent(s) and antibodies would need to be tested in new prospectively enrolled pregnant women, so as to establish further risk factors leading to possible preventive modalities. PMID:17162360

Acquired factor VII deficiency associated with acute myeloid leukemia.

PubMed

Anoun, Soumaya; Lamchahab, Mouna; Oukkache, Bouchra; Qachouh, Maryam; Benchekroun, Said; Quessar, Asmaa

2015-04-01

Isolated acquired factor VII deficiency is a rare coagulopathy. It has been reported in 31 patients with malignancy, sepsis, postoperatively, aplastic anemia, and during bone marrow transplantation. We discuss, through a new case of acquired factor VII deficiency, the characteristics of this disease when it is associated with acute myeloid leukemia. Acquired factor VII deficiency in hematological diseases can be caused by intensive chemotherapy, infections, or hepatic dysfunction. The best treatment in developing countries remains corticosteroids associated with plasma exchange, frozen plasma, and antibiotics.

Central hypothyroidism - a neglected thyroid disorder.

PubMed

Beck-Peccoz, Paolo; Rodari, Giulia; Giavoli, Claudia; Lania, Andrea

2017-10-01

Central hypothyroidism is a rare and heterogeneous disorder that is characterized by a defect in thyroid hormone secretion in an otherwise normal thyroid gland due to insufficient stimulation by TSH. The disease results from the abnormal function of the pituitary gland, the hypothalamus, or both. Moreover, central hypothyroidism can be isolated or combined with other pituitary hormone deficiencies, which are mostly acquired and are rarely congenital. The clinical manifestations of central hypothyroidism are usually milder than those observed in primary hypothyroidism. Obtaining a positive diagnosis for central hypothyroidism can be difficult from both a clinical and a biochemical perspective. The diagnosis of central hypothyroidism is based on low circulating levels of free T 4 in the presence of low to normal TSH concentrations. The correct diagnosis of both acquired (also termed sporadic) and congenital (also termed genetic) central hypothyroidism can be hindered by methodological interference in free T 4 or TSH measurements; routine utilization of total T 4 or T 3 measurements; concurrent systemic illness that is characterized by low levels of free T 4 and normal TSH concentrations; the use of the sole TSH-reflex strategy, which is the measurement of the sole level of TSH, without free T 4 , if levels of TSH are in the normal range; and the diagnosis of congenital hypothyroidism based on TSH analysis without the concomitant measurement of serum levels of T 4 . In this Review, we discuss current knowledge of the causes of central hypothyroidism, emphasizing possible pitfalls in the diagnosis and treatment of this disorder.

27 CFR 6.45 - Assistance in acquiring license.

Code of Federal Regulations, 2010 CFR

2010-04-01

... 27 Alcohol, Tobacco Products and Firearms 1 2010-04-01 2010-04-01 false Assistance in acquiring license. 6.45 Section 6.45 Alcohol, Tobacco Products and Firearms ALCOHOL AND TOBACCO TAX AND TRADE BUREAU, DEPARTMENT OF THE TREASURY LIQUORS âTIED-HOUSEâ Unlawful Inducements Furnishing Things of Value § 6.45 Assistance in acquiring license. Any...

Exfoliation syndrome and exfoliation glaucoma-associated LOXL1 variations are not involved in pigment dispersion syndrome and pigmentary glaucoma.

PubMed

Rao, Kollu Nageswara; Ritch, Robert; Dorairaj, Syril K; Kaur, Inderjeet; Liebmann, Jeffrey M; Thomas, Ravi; Chakrabarti, Subhabrata

2008-07-09

Single nucleotide polymorphisms (SNPs) in the LOXL1 gene have been implicated in exfoliation syndrome (XFS) and exfoliation glaucoma (XFG). We have shown that these SNPs are not associated with the primary glaucomas such as primary open-angle (POAG) glaucoma and primary angle-closure glaucoma (PACG). To further establish the specificity of LOXL1 SNPs for XFS and XFG, we determined whether these SNPs were involved in pigment dispersion syndrome (PDS) and pigmentary glaucoma (PG). Three SNPs of LOXL1 (rs1048661, rs3825942, and rs2165241) were screened in a cohort of 78 unrelated and clinically well characterized glaucoma cases comprising of PG (n=44) and PDS (n=34) patients as well as 108 ethnically matched normal controls of Caucasian origin. The criteria for diagnosis of PDS/PG were Krukenberg spindle, hyperpigmentation of the trabecular meshwork, and wide open angle. Transillumination defects were detected by infrared pupillography, and the presence of a Zentmayer ring was considered as a confirmatory sign. All three SNPs were genotyped in cases and controls by resequencing the genomic region of LOXL1 harboring these variants and were further confirmed by polymerase chain reaction (PCR)-based restriction digestions. Haplotypes were generated from the genotype data, and the linkage disequilibrium (LD) and haplotype analysis were done with Haploview software that uses the expectation maximization (EM) algorithm. The LOXL1 SNPs showed no significant association with PDS or PG. There was no significant difference in the frequencies of the risk alleles of rs1048661 ('G' allele; p=0.309), rs3825942 ('G' allele' p=0.461), and rs2165241 ('T' allele; p=0.432) between PG/PDS cases and controls. Similarly, there was no involvement of the XFS/XFG-associated haplotypes, 'G-G' (p=0.643; [OR=1.08, 95%CI, 0.59-1.97]) and 'T-G' (p=0.266; [OR=1.35, 95%CI, 0.70-2.60]), with the PDS/PG phenotypes. The risk haplotype 'G-G' was observed in ~55% of the normal controls. There was no

Thyroid hormone levels in the acquired immunodeficiency syndrome (AIDS) or AIDS-related complex.

PubMed Central

Tang, W W; Kaptein, E M

1989-01-01

Hypothalamic-pituitary dysfunction and thyroid gland cytomegalovirus inclusions have been described in patients with the acquired immunodeficiency syndrome (AIDS) and AIDS-related complex (ARC). We evaluated 80 patients with AIDS or ARC for the frequency of hypothalamic-pituitary or thyroid gland failure and altered serum thyroid hormone levels due to nonthyroidal disorders. One patient had subclinical hypothyroidism. Of these patients, 60% had low free triiodothyronine (T3) index values and 4% had low free thyroxine (T4) indexes; none of the latter had hypothalamic-pituitary or thyroid gland failure, since all serum cortisol values were greater than or equal to 552 nmol per liter (greater than or equal to 20 micrograms per dl) and all thyrotropin levels were less than or equal to 3 mU per liter (less than or equal to 3 microU per ml), respectively. Those who died had lower total T4 and T3, free T3 index, and albumin levels than those discharged from hospital. Serum total T4 and T3 levels correlated with albumin levels and total T3 with serum sodium levels. Serum total T3 levels best predicted the outcome of the hospital stay (accuracy = 82%). Thus, abnormal serum thyroid hormone levels in AIDS or ARC patients are most frequently due to nonthyroidal disorders, but hypothalamic-pituitary or thyroid gland failure may occur. PMID:2618039

Naturally acquired microchimerism

PubMed Central

GAMMILL, HILARY S.; NELSON, J. LEE

2010-01-01

Bi-directional transplacental trafficking occurs routinely during the course of normal pregnancy, from fetus to mother and from mother to fetus. In addition to a variety of cell-free substances, it is now well recognized that some cells are also exchanged. Microchimerism refers to a small number of cells (or DNA) harbored by one individual that originated in a genetically different individual. While microchimerism can be the result of iatrogenic interventions such as transplantation or transfusion, by far the most common source is naturally acquired microchimerism from maternal-fetal trafficking during pregnancy. Microchimerism is a subject of much current interest for a number of reasons. During pregnancy, fetal microchimerism can be sought from the mother’s blood for the purpose of prenatal diagnosis. Moreover, studies of fetal microchimerism during pregnancy may offer insight into complications of pregnancy, such as preeclampsia, as well as insights into the pathogenesis of autoimmune diseases such as rheumatoid arthritis which usually ameliorates during pregnancy. Furthermore, it is now known that microchimerism persists decades later, both fetal microchimerism in women who have been pregnant and maternal microchimerism in her progeny. Investigation of the long-term consequences of fetal and maternal microchimerism is another exciting frontier of active study, with initial results pointing both to adverse and beneficial effects. This review will provide an overview of microchimerism during pregnancy and of current knowledge regarding long-term effects of naturally acquired fetal and maternal microchimerism. PMID:19924635

Relationship between suicidality and impulsivity in bipolar I disorder: a diffusion tensor imaging study

PubMed Central

Mahon, Katie; Burdick, Katherine E; Wu, Jinghui; Ardekani, Babak A; Szeszko, Philip R

2012-01-01

Background Impulsivity is characteristic of individuals with bipolar disorder and may be a contributing factor to the high rate of suicide in patients with this disorder. Although white matter abnormalities have been implicated in the pathophysiology of bipolar disorder, their relationship to impulsivity and suicidality in this disorder has not been well-investigated. Methods Diffusion tensor imaging scans were acquired in 14 bipolar disorder patients with a prior suicide attempt, 15 bipolar disorder patients with no prior suicide attempt, and 15 healthy volunteers. Bipolar disorder patients received clinical assessments including measures of impulsivity, depression, mania, and anxiety. Images were processed using the Tract-Based Spatial Statistics method in the FSL software package. Results Bipolar disorder patients with a prior suicide attempt had lower fractional anisotropy (FA) within the left orbital frontal white matter (p < 0.05, corrected) and higher overall impulsivity compared to patients without a previous suicide attempt. Among patients with a prior suicide attempt, FA in the orbital frontal white matter region correlated inversely with motor impulsivity. Conclusions Abnormal orbital frontal white matter may play a role in impulsive and suicidal behavior among patients with bipolar disorder. PMID:22329475

[Current emergency medicine for neurological disorders in children].

PubMed

Osamura, Toshio

2010-01-01

In 2006, the number of pediatric outpatients consulting our hospital during non-practice hours increased by 218.1% of that in 1996. The number of pediatric inpatients during non-practice hours in 2006 increased by 71.3% of that in 1996. In 2006, the number of patients who were admitted with neurological disorders in children during non-practice hours increased to 213.3% of that in 1996. The proportion of these pediatric patients among those who were admitted during non-practice hours was 16.6% in our hospital, suggesting the importance of neurological disorders in pediatric emergency medicine. More than 60% of inpatients with neurological disorders in children were 3 years old or younger. The most common neurological symptoms observed at admission included convulsion (81.6%) and disturbance of consciousness (8.5%). The disorders were mainly febrile seizure (41.4%) and epilepsy (29.0%). Most patients with severe disorders requiring emergency medicine, such as head bruise, acute encephalitis/encephalopathy, purulent meningitis, and head trauma, were admitted during non-practice hours. The prognoses of most neurological disorders in children were favorable. However, patients with sequelae (especially, hypoxic encephalopathy, acute encephalitis/encephalopathy) showed an unfavorable neurological prognosis. Early rehabilitation during admission was useful as a support method for their families. In the future, a comprehensive rehabilitation program for children with acquired brain injury should be established and laws to promote home care must be passed.

7 CFR 989.17 - Acquire.

Code of Federal Regulations, 2011 CFR

2011-01-01

... 7 Agriculture 8 2011-01-01 2011-01-01 false Acquire. 989.17 Section 989.17 Agriculture Regulations of the Department of Agriculture (Continued) AGRICULTURAL MARKETING SERVICE (Marketing Agreements and Orders; Fruits, Vegetables, Nuts), DEPARTMENT OF AGRICULTURE RAISINS PRODUCED FROM GRAPES GROWN IN...

7 CFR 989.17 - Acquire.

Code of Federal Regulations, 2014 CFR

2014-01-01

... 7 Agriculture 8 2014-01-01 2014-01-01 false Acquire. 989.17 Section 989.17 Agriculture Regulations of the Department of Agriculture (Continued) AGRICULTURAL MARKETING SERVICE (MARKETING AGREEMENTS AND ORDERS; FRUITS, VEGETABLES, NUTS), DEPARTMENT OF AGRICULTURE RAISINS PRODUCED FROM GRAPES GROWN IN...

7 CFR 989.17 - Acquire.

Code of Federal Regulations, 2013 CFR

2013-01-01

... 7 Agriculture 8 2013-01-01 2013-01-01 false Acquire. 989.17 Section 989.17 Agriculture Regulations of the Department of Agriculture (Continued) AGRICULTURAL MARKETING SERVICE (MARKETING AGREEMENTS AND ORDERS; FRUITS, VEGETABLES, NUTS), DEPARTMENT OF AGRICULTURE RAISINS PRODUCED FROM GRAPES GROWN IN...

7 CFR 989.17 - Acquire.

Code of Federal Regulations, 2010 CFR

2010-01-01

... 7 Agriculture 8 2010-01-01 2010-01-01 false Acquire. 989.17 Section 989.17 Agriculture Regulations of the Department of Agriculture (Continued) AGRICULTURAL MARKETING SERVICE (Marketing Agreements and Orders; Fruits, Vegetables, Nuts), DEPARTMENT OF AGRICULTURE RAISINS PRODUCED FROM GRAPES GROWN IN...

7 CFR 989.17 - Acquire.

Code of Federal Regulations, 2012 CFR

2012-01-01

... 7 Agriculture 8 2012-01-01 2012-01-01 false Acquire. 989.17 Section 989.17 Agriculture Regulations of the Department of Agriculture (Continued) AGRICULTURAL MARKETING SERVICE (Marketing Agreements and Orders; Fruits, Vegetables, Nuts), DEPARTMENT OF AGRICULTURE RAISINS PRODUCED FROM GRAPES GROWN IN...

Mouse models for four types of Waardenburg syndrome.

PubMed

Tachibana, Masayoshi; Kobayashi, Yasuhito; Matsushima, Yoshibumi

2003-10-01

Waardenburg syndrome (WS) is an auditory-pigmentary syndrome caused by a deficiency of melanocytes and other neural crest-derived cells. Depending on a variety of symptoms associated with the auditory-pigmentary symptoms, WS is classified into four types: WS type 1 (WS1), WS2, WS3, and WS4. Six genes contributing to this syndrome--PAX3, SOX10, MITF, SLUG, EDN3 and EDNRB--have been cloned so far, all of them necessary for normal development of melanocytes. Mutant mice with coat color anomalies were helpful in identifying these genes, although the phenotypes of these mice did not necessarily perfectly match those of the four types of WS. Here we describe mice with mutations of murine homologs of WS genes and verify their suitability as models for WS with special interest in the cochlear disorder. The mice include splotch (Sp), microphthalmia (mi), Slugh-/-, WS4, JF1, lethal-spotting (ls), and Dominant megacolon (Dom). The influence of genetic background on the phenotypes of mice mutated in homologs of WS genes is also addressed. Finally, possible interactions among the six WS gene products are discussed.

Exploring the Impact of Chronic Tic Disorders on Youth: Results from the Tourette Syndrome Impact Survey

ERIC Educational Resources Information Center

Conelea, Christine A.; Woods, Douglas W.; Zinner, Samuel H.; Budman, Cathy; Murphy, Tanya; Scahill, Lawrence D.; Compton, Scott N.; Walkup, John

2011-01-01

Prior research has demonstrated that chronic tic disorders (CTD) are associated with functional impairment across several domains. However, methodological limitations, such as data acquired by parental report, datasets aggregated across child and adult samples, and small treatment-seeking samples, curtail interpretation. The current study explored…

Hepatitis E virus: do locally acquired infections in Australia necessitate laboratory testing in acute hepatitis patients with no overseas travel history?

PubMed Central

Shrestha, Ashish C.; Faddy, Helen M.; Flower, Robert L. P.; Seed, Clive R.; Keller, Anthony J.

2015-01-01

Summary Hepatitis E virus (HEV) is emerging as a global public health threat. Water-borne HEV outbreaks are common in developing countries and are associated with genotypes 1 and 2. In industrialised countries, sporadic cases of zoonotic transmission associated with genotypes 3 and 4 are increasingly being reported. Transfusion- and transplantation-transmitted HEV have been documented, although ingestion of contaminated food is thought to be the major transmission route. Severe disease is possible and chronic hepatitis infection occurs in solid-organ-transplant recipients and in patients with immunosuppressive disorders. In Australia, HEV cases are mainly travellers returning from disease endemic countries. Indeed, there are few reported cases of locally acquired HEV. Pigs in Australia have been shown to be infected with HEV, which indicates the possibility of zoonotic transmission. The extent of locally acquired infection is not known, however it may be greater than expected and may necessitate laboratory testing in patients reporting no overseas travel. PMID:25560836

Association between Hypoalbuminaemia and Mortality in Patients with Community-Acquired Bacteraemia Is Primarily Related to Acute Disorders

PubMed Central

Magnussen, Bjarne; Oren Gradel, Kim; Gorm Jensen, Thøger; Kolmos, Hans Jørn; Pedersen, Court; Just Vinholt, Pernille; Touborg Lassen, Annmarie

2016-01-01

We sought to investigate whether hypoalbuminaemia was mainly caused by acute or chronic factors in patients with community-acquired bacteraemia. In this population-based study, we considered 1844 adult cases of community-acquired bacteraemia that occurred in Funen, Denmark between 2000 and 2008. We used a stepwise prognostic predisposition-insult-response-organ dysfunction (PIRO) logistic regression model by initially including age and comorbidity, then added bacterial species, and finally sepsis severity. The models were furthermore analysed using receiver operating characteristic (ROC) curves. Outcomes comprised mortality incidence on days 0–30 and 31–365 after the bacteraemia episode. Each step was performed with and without baseline albumin level measured on the date of bacteraemia. In 422 patients, their latest albumin measurement taken 8–30 days before the date of bacteraemia was also used in the analysis together with the baseline albumin level. For each decrease of 1g/L in plasma albumin level, the odds ratios (95% confidence intervals) of mortality in the period of 0–30 days after bacteraemia were 0.86 (0.84–0.88) in both predisposition (P) and predisposition-insult (PI) models and 0.87 (0.85–0.89) in the full PIRO-model. The AUC values were 0.78 and 0.66 for mortality in the period of 0–30 days in the model comprising only predisposition factors with and without albumin levels added as a factor, respectively. The AUC values in the full PIRO-model were 0.81 and 0.73 with and without consideration of albumin levels, respectively. A higher proportion of patients died within 30 days if there was a decrease in the albumin level between days 8 and 30 before bacteraemia and the actual bacteraemia date. A single plasma albumin measurement on the bacteraemia date was a better prognostic predictor of short-term mortality than the sepsis severity score. PMID:27611431

Aggressive behaviour of inpatients with acquired brain injury.

PubMed

Visscher, Ada J M; van Meijel, Berno; Stolker, Joost J; Wiersma, Jan; Nijman, Henk

2011-12-01

To study the prevalence, nature and determinants of aggression among inpatients with acquired brain injury. Patients with acquired brain injury often have difficulty in controlling their aggressive impulses. A prospective observational study design. By means of the Staff Observation Aggression Scale-Revised, the prevalence, nature and severity of aggressive behaviour of inpatients with acquired brain injury was assessed on a neuropsychiatric treatment ward with 45 beds. Additional data on patient-related variables were gathered from the patients' files. In total, 388 aggressive incidents were recorded over 17 weeks. Of a total of 57 patients included, 24 (42%) patients had engaged in aggressive behaviour on one or more occasions. A relatively small proportion of patients (n=8; 14%) was found to be responsible for the majority of incidents (n=332; 86%). The vast majority of aggression incidents (n=270; 70%) were directly preceded by interactions between patients and nursing staff. In line with this, most incidents occurred at times of high contact intensity. Aggressive behaviour was associated with male gender, length of stay at the ward, legal status and hypoxia as the cause of brain injury. Aggression was found to be highly prevalent among inpatients with acquired brain injury. The results suggest that for the prevention of aggression on the ward, it may be highly effective to develop individually tailored interventions for the subgroup with serious aggression problems. Insight into the frequency, nature and determinants of aggressive behaviour in inpatients with acquired brain injury provides nurses with tools for the prevention and treatment of aggressive behaviour. © 2011 Blackwell Publishing Ltd.

Microenvironmental regulation of the progression of oral potentially malignant disorders towards malignancy

PubMed Central

Ai, Ruixue; Tao, Yan; Hao, Yilong; Jiang, Lu; Dan, Hongxia; Ji, Ning; Zeng, Xin; Zhou, Yu; Chen, Qianming

2017-01-01

Oral potentially malignant disorders (OPMD) develop in a complex tissue microenvironment where they grow sustainably, acquiring oral squamous cell carcinoma (OSCC) characteristics. The malignant tumor depends on interactions with the surrounding microenvironment to achieve loco-regional invasion and distant metastases. Unlike abnormal cells, the multiple cell types in the tissue microenvironment are relatively stable at the genomic level and, thus, become therapeutic targets with lower risk of resistance, decreasing the risk of OPMD acquiring cancer characteristics and carcinoma recurrence. However, deciding how to disrupt the OPMD and OSCC microenvironments is itself a daunting challenge, since their microenvironments present opposite capacities, resulting in diverse consequences. Furthermore, recent studies revealed that tumor-associated immune cells also participate in the process of differentiation from OPMD to OSCC, suggesting that reeducating stromal cells may be a new strategy to prevent OPMD from acquiring OSCC characteristics and to treat OSCC. In this review, we discuss the characteristics of the microenvironment of OPMD and OSCC as well as new therapeutic strategies. PMID:29113419

A case of acquired port wine stain: an association with repeated sunburn?

PubMed

Seremet, Sila; Benar, Elif B; Afsar, Fatma Sule; Calli, Aylin; Ulusarac, Ozlem

2016-10-01

Unlike congenital port wine stain (PWS), an acquired PWS is a rare vascular lesion that develops later in life. Although solar damage is associated with acquired PWS, there is no reported case of acquired PWS after sunburn in the literature. We report a case of a 54-year-old man diagnosed with acquired PWS possibly caused by repeated sunburn. We recommended laser treatment to our patient; however, the patient did not chose to receive any treatment. Our case demonstrates a possible rare occurrence of an acquired PWS after sunburn with larger lesions and more diffuse distribution. For this reason, our case differs from other acquired PWS cases. © 2016 The International Society of Dermatology.

G6PD Deficiency Does Not Enhance Susceptibility for Acquiring Helicobacter pylori Infection in Sardinian Patients

PubMed Central

Dore, Maria Pina; Marras, Giuseppina; Rocchi, Chiara; Soro, Sara

2016-01-01

Background Subjects with glucose-6-phosphate dehydrogenase (G6PD) deficiency may be more susceptible to infections due to impaired leukocyte bactericidal activity. The disorder is common in the Mediterranean area. The aim of this study was to investigate whether G6PD deficiency may be a risk factor for acquiring H. pylori infection. Methods We performed a retrospective study. Data from clinical records of 6565 patients (2278 men and 4287 women, median age 51, range 7‒94) who underwent upper endoscopy between 2002 and 2014 were collected. H. pylori status, assessed by histology plus rapid urease test or 13C-urea breath test, and G6PD status were also reported. A multiple logistic regression model was used to investigate the association between G6PD deficiency and H. pylori infection. Results Enzyme deficiency was detected in 12% (789/6565) of the entire cohort, and more specifically in 8.3% of men and in 14.0% of women. Overall, the proportion of patients positive for H. pylori was 50.6% and 51.5% among G6PD deficient and non-deficient patients (χ² = 0.271; p = 0.315). Moreover, among G6PD-deficient and normal patients the frequency of previous H. pylori infection was similar. After adjustment for age and gender the risk for acquiring H. pylori infection was similar in G6PD-deficient and normal patients. Only age was a strong statistically significant risk predictor. Conclusions These results demonstrate for the first time that G6PD deficiency does not enhance patients’ susceptibility to acquire H. pylori infection in Sardinia. PMID:27467818

Unusual Presentation of Spasm of Near Reflex Mimicking Large-Angle Acute Acquired Comitant Esotropia

PubMed Central

Shanker, Varshini; Nigam, Vishal

2015-01-01

Abstract We report the case of an 11-year-old boy who presented with sudden esotropia, binocular diplopia, and blurred vision. The patient was neurologically normal. He had a large, constant, comitant, alternating esotropia associated with minimal accommodative spasm. Ocular motility and pupillary reactions were normal. He was diagnosed to have spasm of the near reflex presenting as acute onset of esotropia. The esotropia was persistent despite treatment and eventually resolved with prolonged cycloplegic therapy. This unusual case illustrates that spasm of the near reflex can have unique and variable presentations. Spasm of the near reflex needs to be considered in the differential diagnosis of every case of acute, acquired, comitant esotropia. This is the first case of spasm of the near reflex where persistent esotropia is reported in the absence of any neurological disorder. PMID:27928354

Bronchoalveolar carcinoma (adenocarcinoma) mimicking recurrent bacterial community-acquired pneumonia (CAP).

PubMed

Cunha, Burke A; Syed, Uzma; Mikail, Nardeen

2012-01-01

Depending on the community-acquired pneumonia (CAP) pathogen, host factors, and immune status, CAPs resolve on chest x-rays at different rates. CAPs that resolve more slowly than expected, or not at all, are termed "slowly or non-resolving CAPs." In contrast, recurrent CAPs may be due to host defense defects (eg, multiple myelomas) or post-obstructive bronchogenic carcinomas. There are a variety of noninfectious disorders that may mimic CAPs on chest x-ray: alveolar hemorrhage, pulmonary drug reactions, radiation pneumonitis, Wegener's granulomatosis, bronchiolitis obliterans organizing pneumonia, bronchogenic carcinomas, and lymphomas. Noninfectious mimics of recurrent CAPs include congestive heart failure, pulmonary emboli, infarctions, sarcoidosis, and systemic lupus erythematosus pneumonitis. We present the case of a middle-aged man who presented with recurrent right middle lobe and right lower lobe CAPs. Diagnostic bronchoscopy showed no bronchial obstruction, but open lung biopsy showed bronchoalveolar carcinoma (well-differentiated adenocarcinoma). Bronchoalveolar carcinomas presenting as post-obstructive or recurrent CAPs are rare because the spread is along tissue planes and not endobronchially. The case described demonstrates a rare cause of bronchogenic carcinoma mimicking recurrent CAP. Copyright © 2012 Elsevier Inc. All rights reserved.

26 CFR 1.472-7 - Inventories of acquiring corporations.

Code of Federal Regulations, 2014 CFR

2014-04-01

... 26 Internal Revenue 6 2014-04-01 2014-04-01 false Inventories of acquiring corporations. 1.472-7 Section 1.472-7 Internal Revenue INTERNAL REVENUE SERVICE, DEPARTMENT OF THE TREASURY (CONTINUED) INCOME TAX (CONTINUED) INCOME TAXES (CONTINUED) Inventories § 1.472-7 Inventories of acquiring corporations...

26 CFR 1.472-7 - Inventories of acquiring corporations.

Code of Federal Regulations, 2012 CFR

2012-04-01

... 26 Internal Revenue 6 2012-04-01 2012-04-01 false Inventories of acquiring corporations. 1.472-7 Section 1.472-7 Internal Revenue INTERNAL REVENUE SERVICE, DEPARTMENT OF THE TREASURY (CONTINUED) INCOME TAX (CONTINUED) INCOME TAXES (CONTINUED) Inventories § 1.472-7 Inventories of acquiring corporations...

26 CFR 1.471-9 - Inventories of acquiring corporations.

Code of Federal Regulations, 2014 CFR

2014-04-01

... 26 Internal Revenue 6 2014-04-01 2014-04-01 false Inventories of acquiring corporations. 1.471-9 Section 1.471-9 Internal Revenue INTERNAL REVENUE SERVICE, DEPARTMENT OF THE TREASURY (CONTINUED) INCOME TAX (CONTINUED) INCOME TAXES (CONTINUED) Inventories § 1.471-9 Inventories of acquiring corporations...

26 CFR 1.471-9 - Inventories of acquiring corporations.

Code of Federal Regulations, 2010 CFR

2010-04-01

... 26 Internal Revenue 6 2010-04-01 2010-04-01 false Inventories of acquiring corporations. 1.471-9 Section 1.471-9 Internal Revenue INTERNAL REVENUE SERVICE, DEPARTMENT OF THE TREASURY (CONTINUED) INCOME TAX (CONTINUED) INCOME TAXES Inventories § 1.471-9 Inventories of acquiring corporations. For...

26 CFR 1.472-7 - Inventories of acquiring corporations.

Code of Federal Regulations, 2010 CFR

2010-04-01

... 26 Internal Revenue 6 2010-04-01 2010-04-01 false Inventories of acquiring corporations. 1.472-7 Section 1.472-7 Internal Revenue INTERNAL REVENUE SERVICE, DEPARTMENT OF THE TREASURY (CONTINUED) INCOME TAX (CONTINUED) INCOME TAXES Inventories § 1.472-7 Inventories of acquiring corporations. For...

26 CFR 1.471-9 - Inventories of acquiring corporations.

Code of Federal Regulations, 2011 CFR

2011-04-01

... 26 Internal Revenue 6 2011-04-01 2011-04-01 false Inventories of acquiring corporations. 1.471-9 Section 1.471-9 Internal Revenue INTERNAL REVENUE SERVICE, DEPARTMENT OF THE TREASURY (CONTINUED) INCOME TAX (CONTINUED) INCOME TAXES (CONTINUED) Inventories § 1.471-9 Inventories of acquiring corporations...

26 CFR 1.472-7 - Inventories of acquiring corporations.

Code of Federal Regulations, 2011 CFR

2011-04-01

... 26 Internal Revenue 6 2011-04-01 2011-04-01 false Inventories of acquiring corporations. 1.472-7 Section 1.472-7 Internal Revenue INTERNAL REVENUE SERVICE, DEPARTMENT OF THE TREASURY (CONTINUED) INCOME TAX (CONTINUED) INCOME TAXES (CONTINUED) Inventories § 1.472-7 Inventories of acquiring corporations...

26 CFR 1.471-9 - Inventories of acquiring corporations.

Code of Federal Regulations, 2012 CFR

2012-04-01

... 26 Internal Revenue 6 2012-04-01 2012-04-01 false Inventories of acquiring corporations. 1.471-9 Section 1.471-9 Internal Revenue INTERNAL REVENUE SERVICE, DEPARTMENT OF THE TREASURY (CONTINUED) INCOME TAX (CONTINUED) INCOME TAXES (CONTINUED) Inventories § 1.471-9 Inventories of acquiring corporations...

26 CFR 1.472-7 - Inventories of acquiring corporations.

Code of Federal Regulations, 2013 CFR

2013-04-01

... 26 Internal Revenue 6 2013-04-01 2013-04-01 false Inventories of acquiring corporations. 1.472-7 Section 1.472-7 Internal Revenue INTERNAL REVENUE SERVICE, DEPARTMENT OF THE TREASURY (CONTINUED) INCOME TAX (CONTINUED) INCOME TAXES (CONTINUED) Inventories § 1.472-7 Inventories of acquiring corporations...

26 CFR 1.471-9 - Inventories of acquiring corporations.

Code of Federal Regulations, 2013 CFR

2013-04-01

... 26 Internal Revenue 6 2013-04-01 2013-04-01 false Inventories of acquiring corporations. 1.471-9 Section 1.471-9 Internal Revenue INTERNAL REVENUE SERVICE, DEPARTMENT OF THE TREASURY (CONTINUED) INCOME TAX (CONTINUED) INCOME TAXES (CONTINUED) Inventories § 1.471-9 Inventories of acquiring corporations...

Recurrent and acquired tracheoesophageal fistulae (TEF)-Minimally invasive management.

PubMed

Nazir, Zafar; Khan, Muhammad Arif Mateen; Qamar, Javaria

2017-10-01

Recurrent and acquired fistulae are a serious complication of congenital esophageal atresia and tracheoesophageal fistula (TEF) repair and foreign body ingestion (FBI) (e.g., button battery). We report our experience with a minimally invasive approach to recurrent and acquired TEF. Medical records of patients referred for management of recurrent and acquired TEF between 2003 and 2015 were reviewed retrospectively. Patients underwent endoscopic procedures (de-epithelization of fistulous tract and fibrin tissue adhesive-Tisseel R ) under general anesthesia. Nine children (7 male, 2 female) with age range 3months to 3years (mean 1.5year) were managed. TEF closed spontaneously in four patients, whereas in 5 patients the TEF closed after combined endoscopic procedure. Three patients required repeat endoscopic procedures. Follow-up ranged between 7months to 10years (mean 4.2years). Active observation and repeat combined endoscopic procedures are safe alternatives to open surgical repair of acquired and recurrent TEF. Level IV study. Copyright © 2017 Elsevier Inc. All rights reserved.

33 CFR 211.2 - Authority to acquire real estate.

Code of Federal Regulations, 2012 CFR

2012-07-01

... 33 Navigation and Navigable Waters 3 2012-07-01 2012-07-01 false Authority to acquire real estate..., DEPARTMENT OF DEFENSE REAL ESTATE ACTIVITIES OF THE CORPS OF ENGINEERS IN CONNECTION WITH CIVIL WORKS PROJECTS Real Estate; General § 211.2 Authority to acquire real estate. (a) Congressional authority...

33 CFR 211.2 - Authority to acquire real estate.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 33 Navigation and Navigable Waters 3 2011-07-01 2011-07-01 false Authority to acquire real estate..., DEPARTMENT OF DEFENSE REAL ESTATE ACTIVITIES OF THE CORPS OF ENGINEERS IN CONNECTION WITH CIVIL WORKS PROJECTS Real Estate; General § 211.2 Authority to acquire real estate. (a) Congressional authority...

33 CFR 211.2 - Authority to acquire real estate.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 33 Navigation and Navigable Waters 3 2010-07-01 2010-07-01 false Authority to acquire real estate..., DEPARTMENT OF DEFENSE REAL ESTATE ACTIVITIES OF THE CORPS OF ENGINEERS IN CONNECTION WITH CIVIL WORKS PROJECTS Real Estate; General § 211.2 Authority to acquire real estate. (a) Congressional authority...

33 CFR 211.2 - Authority to acquire real estate.

Code of Federal Regulations, 2013 CFR

2013-07-01

... 33 Navigation and Navigable Waters 3 2013-07-01 2013-07-01 false Authority to acquire real estate..., DEPARTMENT OF DEFENSE REAL ESTATE ACTIVITIES OF THE CORPS OF ENGINEERS IN CONNECTION WITH CIVIL WORKS PROJECTS Real Estate; General § 211.2 Authority to acquire real estate. (a) Congressional authority...

33 CFR 211.27 - Method of acquiring Federal jurisdiction.

Code of Federal Regulations, 2010 CFR

2010-07-01

... PROJECTS Federal Jurisdiction over Real Estate § 211.27 Method of acquiring Federal jurisdiction... 33 Navigation and Navigable Waters 3 2010-07-01 2010-07-01 false Method of acquiring Federal jurisdiction. 211.27 Section 211.27 Navigation and Navigable Waters CORPS OF ENGINEERS, DEPARTMENT OF THE ARMY...

Structural Disorder Provides Increased Adaptability for Vesicle Trafficking Pathways

PubMed Central

Tompa, Peter

2013-01-01

Vesicle trafficking systems play essential roles in the communication between the organelles of eukaryotic cells and also between cells and their environment. Endocytosis and the late secretory route are mediated by clathrin-coated vesicles, while the COat Protein I and II (COPI and COPII) routes stand for the bidirectional traffic between the ER and the Golgi apparatus. Despite similar fundamental organizations, the molecular machinery, functions, and evolutionary characteristics of the three systems are very different. In this work, we compiled the basic functional protein groups of the three main routes for human and yeast and analyzed them from the structural disorder perspective. We found similar overall disorder content in yeast and human proteins, confirming the well-conserved nature of these systems. Most functional groups contain highly disordered proteins, supporting the general importance of structural disorder in these routes, although some of them seem to heavily rely on disorder, while others do not. Interestingly, the clathrin system is significantly more disordered (∼23%) than the other two, COPI (∼9%) and COPII (∼8%). We show that this structural phenomenon enhances the inherent plasticity and increased evolutionary adaptability of the clathrin system, which distinguishes it from the other two routes. Since multi-functionality (moonlighting) is indicative of both plasticity and adaptability, we studied its prevalence in vesicle trafficking proteins and correlated it with structural disorder. Clathrin adaptors have the highest capability for moonlighting while also comprising the most highly disordered members. The ability to acquire tissue specific functions was also used to approach adaptability: clathrin route genes have the most tissue specific exons encoding for protein segments enriched in structural disorder and interaction sites. Overall, our results confirm the general importance of structural disorder in vesicle trafficking and

Escitalopram treatment of depression in human immunodeficiency virus/acquired immunodeficiency syndrome: a randomized, double-blind, placebo-controlled study.

PubMed

Hoare, Jacqueline; Carey, Paul; Joska, John A; Carrara, Henri; Sorsdahl, Katherine; Stein, Dan J

2014-02-01

Depression can be a chronic and impairing illness in people with human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome. Large randomized studies of newer selective serotonin reuptake inhibitors such as escitalopram in the treatment of depression in HIV, examining comparative treatment efficacy and safety, have yet to be done in HIV-positive patients. This was a fixed-dose, placebo-controlled, randomized, double-blind study to investigate the efficacy of escitalopram in HIV-seropositive subjects with Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, major depressive disorder. One hundred two participants were randomly assigned to either 10 mg of escitalopram or placebo for 6 weeks. An analysis of covariance of the completers found that there was no advantage for escitalopram over placebo on the Montgomery-Asberg Depression Rating Scale (p = 0.93). Sixty-two percent responded to escitalopram and 59% responded to placebo on the Clinical Global Impression Scale. Given the relatively high placebo response, future trials in this area need to be selective in participant recruitment and to be adequately powered.

[Psychotherapy of patients with personality disorders with predominance of hypochondria].

PubMed

Burno, M E; Igovskaia, A S

2008-01-01

A standard of psychotherapeutic help to patients with hypochondriac disorder developed in paranoid, schizoid, anxiety and dependent personality disorders is worked out. In this case, hypochondria is inseparable from the personality structure. Patients of investigated group (61 people) received traditional medical treatment, individual differential symptomatic psychotherapy and a short group course with a variant of the therapy by means of creative sell-expression (TCSEB) worked out by M. Burno. This course aimed at preventing new hypochondriac symptoms and acquiring spiritual creative ways to overcome themselves. The control group (70 people) differed from the index-group by not receiving CSEB. A statistical analysis revealed a significant therapeutic efficacy of the mentioned new clinical psychotherapeutic standard compared to the psychotherapeutic tactics without TCSEB.

Trade-offs between acquired and innate immune defenses in humans

PubMed Central

McDade, Thomas W.; Georgiev, Alexander V.; Kuzawa, Christopher W.

2016-01-01

Immune defenses provide resistance against infectious disease that is critical to survival. But immune defenses are costly, and limited resources allocated to immunity are not available for other physiological or developmental processes. We propose a framework for explaining variation in patterns of investment in two important subsystems of anti-pathogen defense: innate (non-specific) and acquired (specific) immunity. The developmental costs of acquired immunity are high, but the costs of maintenance and activation are relatively low. Innate immunity imposes lower upfront developmental costs, but higher operating costs. Innate defenses are mobilized quickly and are effective against novel pathogens. Acquired responses are less effective against novel exposures, but more effective against secondary exposures due to immunological memory. Based on their distinct profiles of costs and effectiveness, we propose that the balance of investment in innate versus acquired immunity is variable, and that this balance is optimized in response to local ecological conditions early in development. Nutritional abundance, high pathogen exposure and low signals of extrinsic mortality risk during sensitive periods of immune development should all favor relatively higher levels of investment in acquired immunity. Undernutrition, low pathogen exposure, and high mortality risk should favor innate immune defenses. The hypothesis provides a framework for organizing prior empirical research on the impact of developmental environments on innate and acquired immunity, and suggests promising directions for future research in human ecological immunology. PMID:26739325

[Familial occurrence of acquired heart valve defect].

PubMed

Schieche, M

1975-09-15

A report is given on a family examination, issuing from 213 persons with an acquired valvular defect for the establishment of further cases on altogether 783 relations of the direct line. In 19 families other 21 patients with an acquired valvular defect were found; this corresponds to a share of 2.7 % of the relations examined and 8.1% of the families affected, respectively. The result repays the expenditure and, apart from this, leads to an essential furthering of the confidence between physician, patient and family as the smallest social unity for prophylaxis, diagnostics, therapy and metaphylaxis of chronic diseases.

GETTING LOST: TOPOGRAPHIC SKILLS IN ACQUIRED AND DEVELOPMENTAL PROSOPAGNOSIA

PubMed Central

Lee, Edison; Pancaroglu, Raika; Burles, Ford; Duchaine, Brad; Iaria, Giuseppe; Barton, Jason J S

2016-01-01

Previous studies report that acquired prosopagnosia is frequently associated with topographic disorientation. Whether this is associated with a specific anatomic subtype of prosopagnosia, how frequently it is seen with the developmental variant, and what specific topographic function is impaired to account for this problem are not known. We studied ten subjects with acquired prosopagnosia from either occipitotemporal or anterior temporal lesions and seven with developmental prosopagnosia. Subjects were given a battery of topographic tests, including house and scene recognition, the road map test, a test of cognitive map formation, and a standardized self-report questionnaire. House and/or scene recognition were frequently impaired after either occipitotemporal or anterior temporal lesions in acquired prosopagnosia. Subjects with occipitotemporal lesions were also impaired in cognitive map formation: an overlap analysis identified right fusiform and parahippocampal gyri as a likely correlate. Only one subject with acquired prosopagnosia had mild difficulty with directional orientation on the road map test. Only one subject with developmental prosopagnosia had difficulty with cognitive map formation, and none were impaired on the other tests. Scores for house and scene recognition correlated most strongly with the results of the questionnaire. We conclude that topographic disorientation in acquired prosopagnosia reflects impaired place recognition, with a contribution from poor cognitive map formation when there is occipitotemporal damage. Topographic impairments are less frequent in developmental prosopagnosia. PMID:26874939

[Ejaculation inadequacy in sexual disorders].

PubMed

Schröder, K H; Krause, W

1982-01-01

Sixteen men with missing ejaculation were observed as outpatients in our department within the past years. Among these, four patients with retrograde ejaculation are included. Possible reasons for the missing ejaculation are operations in the genital region or the pelvis, and spinal cord injuries. Endocrine disorders, diabetes mellitus, drug dependence, and psychogenic alterations have to be discussed as etiologic factors. Secondary lack of ejaculation, which is acquired in later years of life, seems to have a poorer prognosis than the primary disease, which begins with puberty. This group of patients is well responsive to psychotherapy. Other therapeutic approaches are hormonal substitution, care of drug dependence, and treatment with sympathicomimetica in some cases of retrograde ejaculation.

Waardenburg syndrome in four Mexican patients.

PubMed

Aguilar Caso, Sandra I; Ortiz Nieva, Gabriela

2009-01-01

Waardenburg syndrome is a hereditary auditory-pigmentary syndrome. The major features include pigmentary disturbances and congenital deafness. Clinical findings are extremely variable, not only at the authors' institution but also in the literature. The authors describe four patients who presented with various clinical features and different genetic pedigree penetration.

Ethnic hair disorders.

PubMed

Lindsey, Scott F; Tosti, Antonella

2015-01-01

The management of hair and scalp conditions is difficult in any patient, especially given the emotional and psychological implications of hair loss. This undertaking becomes even more challenging in the ethnic patient. Differences in hair care practices, hair shaft morphology, and follicular architecture add complexity to the task. It is imperative that the physician be knowledgeable about these practices and the phenotypic differences seen in ethnic hair in order to appropriately diagnose and treat these patients. In this chapter, we will discuss cultural practices and morphologic differences and explain how these relate to the specific disorders seen in ethnic populations. We will also review the most prominent of the ethnic hair conditions including acquired trichorrhexis nodosa, traction alopecia, central centrifugal cicatricial alopecia, pseudofolliculitis barbae, dissecting cellulitis, and acne keloidalis nuchae. © 2015 S. Karger AG, Basel.

45 CFR 7.4 - Option to acquire foreign rights.

Code of Federal Regulations, 2010 CFR

2010-10-01

... 45 Public Welfare 1 2010-10-01 2010-10-01 false Option to acquire foreign rights. 7.4 Section 7.4... Option to acquire foreign rights. In any case where it is determined that all domestic rights should be...-wide regulations issued thereunder, that the Government shall reserve an option to require the...

34 CFR 7.4 - Option to acquire foreign rights.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 34 Education 1 2010-07-01 2010-07-01 false Option to acquire foreign rights. 7.4 Section 7.4 Education Office of the Secretary, Department of Education EMPLOYEE INVENTIONS § 7.4 Option to acquire... issued thereunder, that the Government shall reserve an option to require the assignment of such rights...

[Topical problems of empiric therapy of community-acquired pneumonia in outpatient practice].

PubMed

Stepanova, I I; Chorbinskaya, S A; Baryshnikonva, G A; Nikiforova, N V; Pokutniy, N F; Zverkov, I V; Maslovskyi, L V; Kotenko, K V

2016-01-01

Community-acquired pneumonia is one of prevalent infectious respiratory diseases. Adequate treatment of community-acquired pneumonia, with consideration of the disease severity and microbial resistence, remains extremely topical. The article covers contemporary views of community-acquired pneumonia treatment standards. The authors described results of personal research aimed to study antibacterial treatment for community-acquired pneumonia on outpatient basis over 2004-2012, evaluated correspondence of the treatment to the national clinical recommendations.

Life Experiences and the Acquired Capability for Suicide in Incarcerated Men

PubMed Central

Smith, Phillip N.; Selwyn, Candice; D’Amato, Darcey; Granato, Stephani; Kuhlman, Shane; Mandracchia, Jon T.

2016-01-01

Suicide is a leading cause of death in US prisons. Prisoners may be at risk for suicide due to their greater likelihood of experiencing events that promote the acquired capability for suicide. The current study examined the associations of 10 domains of life experiences with the acquired capability for suicide in 399 male prisoners. All life experience domains were associated with acquired capability with certain domains evidencing relatively stronger relations. Results support that aggression, thrill seeking, suicidal thoughts and behaviors, and accidental injury may be particularly important to the development of the acquired capability for suicide in prisoners. PMID:27050295

Acquired Acrodermatitis Enteropathica: A Case Study

PubMed Central

Stelzer, John W; Esplin, Nathan; Farooq, Ahsan; Karasik, Olga

2017-01-01

We present a case of severe acquired acrodermatitis enteropathica in a vegan adult female with multiple underlying comorbidities. Acquired acrodermatitis enteropathica or zinc-deficiency dermatitis is the most common diagnosis than many practitioners realize with up to 10% of the patients in developed nations with the risk of zinc deficiency. The condition can be difficult to diagnose due to many similarly-presenting conditions. Furthermore, comorbid conditions in the patients can serve as confounders to the diagnosis. The symptoms are often extremely distressing for the patients, though the treatment is simple and clinical improvement occurs rapidly with appropriate care. We recommend a high index of suspicion to practitioners as well as a low-threshold for initiating treatment in the patients with any clinical symptoms of the condition. PMID:29152424

Progressive Pigmentary Purpura

MedlinePlus

... Board Certification Grand Rounds Resident Awards AOCD Residency Leadership Award A.P. Ulbrich Resident Research Award Daniel Koprince Award Resident Research Paper Award Sponsors Corporate Members Exhibitors Information for Corporate ...

Progressive Pigmentary Purpura

MedlinePlus

... of Giving Governance By-Laws Committees Committee Service Conflict of Interest Policy Meeting Minutes Archive History Mission Statement Membership AOCD Membership Life Membership Membership Applications and Renewals Membership Benefits Fellows ...

Network Mechanisms of Clinical Response to Transcranial Magnetic Stimulation in Posttraumatic Stress Disorder and Major Depressive Disorder.

PubMed

Philip, Noah S; Barredo, Jennifer; van 't Wout-Frank, Mascha; Tyrka, Audrey R; Price, Lawrence H; Carpenter, Linda L

2018-02-01

Repetitive transcranial magnetic stimulation (TMS) therapy can modulate pathological neural network functional connectivity in major depressive disorder (MDD). Posttraumatic stress disorder is often comorbid with MDD, and symptoms of both disorders can be alleviated with TMS therapy. This is the first study to evaluate TMS-associated changes in connectivity in patients with comorbid posttraumatic stress disorder and MDD. Resting-state functional connectivity magnetic resonance imaging was acquired before and after TMS therapy in 33 adult outpatients in a prospective open trial. TMS at 5 Hz was delivered, in up to 40 daily sessions, to the left dorsolateral prefrontal cortex. Analyses used a priori seeds relevant to TMS, posttraumatic stress disorder, or MDD (subgenual anterior cingulate cortex [sgACC], left dorsolateral prefrontal cortex, hippocampus, and basolateral amygdala) to identify imaging predictors of response and to evaluate clinically relevant changes in connectivity after TMS, followed by leave-one-out cross-validation. Imaging results were explored using data-driven multivoxel pattern activation. More negative pretreatment connectivity between the sgACC and the default mode network predicted clinical improvement, as did more positive amygdala-to-ventromedial prefrontal cortex connectivity. After TMS, symptom reduction was associated with reduced connectivity between the sgACC and the default mode network, left dorsolateral prefrontal cortex, and insula, and reduced connectivity between the hippocampus and the salience network. Multivoxel pattern activation confirmed seed-based predictors and correlates of treatment outcomes. These results highlight the central role of the sgACC, default mode network, and salience network as predictors of TMS response and suggest their involvement in mechanisms of action. Furthermore, this work indicates that there may be network-based biomarkers of clinical response relevant to these commonly comorbid disorders

Acquiring 4D Thoracic CT Scans Using Ciné CT Acquisition

NASA Astrophysics Data System (ADS)

Low, Daniel

One method for acquiring 4D thoracic CT scans is to use ciné acquisition. Ciné acquisition is conducted by rotating the gantry and acquiring x-ray projections while keeping the couch stationary. After a complete rotation, a single set of CT slices, the number corresponding to the number of CT detector rows, is produced. The rotation period is typically sub second so each image set corresponds to a single point in time. The ciné image acquisition is repeated for at least one breathing cycle to acquire images throughout the breathing cycle. Once the images are acquired at a single couch position, the couch is moved to the abutting position and the acquisition is repeated. Post-processing of the images sets typically resorts the sets into breathing phases, stacking images from a specific phase to produce a thoracic CT scan at that phase. Benefits of the ciné acquisition protocol include, the ability to precisely identify the phase with respect to the acquired image, the ability to resort images after reconstruction, and the ability to acquire images over arbitrarily long times and for arbitrarily many images (within dose constraints).

Intensive Care Unit–Acquired Weakness: Implications for Physical Therapist Management

PubMed Central

Moss, Marc; Quan, Dianna; Schenkman, Margaret

2012-01-01

Patients admitted to the intensive care unit (ICU) can develop a condition referred to as “ICU-acquired weakness.” This condition is characterized by profound weakness that is greater than might be expected to result from prolonged bed rest. Intensive care unit–acquired weakness often is accompanied by dysfunction of multiple organ systems. Individuals with ICU-acquired weakness typically have significant activity limitations, often requiring physical assistance for even the most basic activities associated with bed mobility. Many of these individuals have activity limitations months to years after hospitalization. The purpose of this article is to review evidence that guides physical rehabilitation of people with ICU-acquired weakness. Included are diagnostic criteria, medical management, and prognostic indicators, as well as criteria for beginning physical rehabilitation, with an emphasis on patient safety. Data are presented indicating that rehabilitation can be implemented with very few adverse effects. Evidence is provided for appropriate measurement approaches and for physical intervention strategies. Finally, some of the key issues are summarized that should be investigated to determine the best intervention guidelines for individuals with ICU-acquired weakness. PMID:22282769

Repeat neurobehavioral study of borderline personality disorder.

PubMed Central

van Reekum, R; Links, P S; Finlayson, M A; Boyle, M; Boiago, I; Ostrander, L A; Moustacalis, E

1996-01-01

Previous research has tentatively identified a large subgroup of patients with borderline personality disorder (BPD) with histories of developmental or acquired brain insults. Similarly, these studies have demonstrated a possible biological correlation between the severity of BPD and the number of previous brain insults. The possibility of frontal system cognitive dysfunction in BPD has been raised. This single-blind, case-control study of BPD showed that 13 of 24 subjects with BPD had suffered a brain insult. Correlations between neurodevelopmental/acquired brain injury score and the diagnostic interview for borderline (DIB) score (r = 0.47), and between frontal system cognitive functioning and DIB score (r = -0.37) were seen. Neurocognitive testing and comparison with a cohort of subjects with traumatic brain injury (TBI) showed a pattern of similar cognitive functioning between the 2 groups, with the only differences on individual tests being in the direction of worse functioning in the group with BPD on 2 tasks. These results support the hypotheses described above. The main limitation reflects the low numbers of subjects. PMID:8580113

Boosting Cognition With Music in Patients With Disorders of Consciousness.

PubMed

Castro, Maïté; Tillmann, Barbara; Luauté, Jacques; Corneyllie, Alexandra; Dailler, Frédéric; André-Obadia, Nathalie; Perrin, Fabien

2015-09-01

Music listening conveys beneficial effects on cognitive processes in both normal and pathologic cerebral functioning. Surprisingly, no quantitative study has evaluated the potential effects of music on cognition and consciousness in patients with disorders of consciousness. The aim of the present study was to evaluate the effect of music on cerebral processing in patients with disorders of consciousness. Using bedside electroencephalographic recording, we acquired in 13 patients with disorders of consciousness event-related potentials to the patient's first name after either an excerpt of the patient's preferred music (music condition) or a continuous sound (control condition). The cerebral response to the patient's first name was more often observed in the music condition, than in the control condition. Furthermore, the presence or absence of a discriminative response in the music condition seemed to be associated with a favorable or unfavorable outcome, respectively. These findings demonstrate for the first time that music has a beneficial effect on cognitive processes of patients with disorders of consciousness. The autobiographical characteristics of music, that is, its emotional and personal relevance, probably increase arousal and/or awareness. © The Author(s) 2015.

Homicide and mental disorder in a region with a high homicide rate.

PubMed

Golenkov, Andrei; Large, Matthew; Nielssen, Olav; Tsymbalova, Alla

2016-10-01

There are few studies of the relationship between mental disorder and homicide offences from regions with high rates of homicide. We examined the characteristics and psychiatric diagnoses of homicide offenders from the Chuvash Republic of the Russian Federation, a region of Russia with a high total homicide rate. In the 30 years between 1981 and 2010, 3414 homicide offenders were the subjected to pre-trial evaluations by experienced psychiatrists, almost half of whom (1596, 46.7%) met the international classification of diseases (ICD) 10 criteria for at least one mental disorder. The six most common individual diagnoses were alcohol dependence (15.9%), acquired organic mental disorder (7.3%), personality disorder (7.1%), schizophrenia (4.4%) and intellectual disability (3.6%). More than one disorder was found in 7.4% of offenders and alcohol dependence was the most frequently diagnosed co-morbid disorder. One in ten offenders were found to be not criminally responsible for their actions. Few homicides involved the use of substances other than alcohol, and firearms were used in 1.6% of homicides. The finding that people with mental disorders other than psychosis committed a high proportion of homicides in a region with a high rate of homicide, suggests that people with mental disorders are vulnerable to similar sociological factors to those that contribute to homicide offences by people who do not have mental disorder. Copyright © 2016 Elsevier B.V. All rights reserved.

[Autism spectrum disorder: Etiological, diagnostic and therapeutic aspects].

PubMed

Reynoso, César; Rangel, María José; Melgar, Virgilio

2017-01-01

Autism spectrum disorder (ASD) was described for the first time in 1943 by Leo Kanner, and since 2004, 18 490 articles in the subject have been published, which in turn have been cited 48 416 times.1 Almost half of these publications come from the United States of America and the vast maority of the efforts to improve the quality of life of these patients have taken place in developed countries. This disorder consists of an inability to acquire social and emotional skills during early development that progressively results in variable degrees of social adaptation discapacity. The etiology is multifactorial and includes functional and structural neurological abnormalities, some of them with putative genetic and/or epigenetic origin. There is an alarming lack of knowledge in the subject among health care professionals. The purpose of this systematic review is to summarize the most relevant historical, diagnostic and therapeutic aspects of ASD.

Rehabilitation of discourse impairments after acquired brain injury

PubMed Central

Gindri, Gigiane; Pagliarin, Karina Carlesso; Casarin, Fabíola Schwengber; Branco, Laura Damiani; Ferré, Perrine; Joanette, Yves; Fonseca, Rochele Paz

2014-01-01

Language impairments in patients with acquired brain injury can have a negative impact on social life as well as on other cognitive domains. Discourse impairments are among the most commonly reported communication deficits among patients with acquired brain damage. Despite advances in the development of diagnostic tools for detecting such impairments, few studies have investigated interventions to rehabilitate patients presenting with these conditions. Objective The aim of this study was to present a systematic review of the methods used in the rehabilitation of discourse following acquired brain injury. Methods The PubMed database was searched for articles using the following keywords: "rehabilitation", "neurological injury", "communication" and "discursive abilities". Results A total of 162 abstracts were found, but only seven of these met criteria for inclusion in the review. Four studies involved samples of individuals with aphasia whereas three studies recruited samples of individuals with traumatic brain injury. Conclusion All but one article found that patient performance improved following participation in a discourse rehabilitation program. PMID:29213880

Community acquired Pseudomonas pneumonia in an immune competent host.

PubMed

Gharabaghi, Mehrnaz Asadi; Abdollahi, Seyed Mojtaba Mir; Safavi, Enayat; Abtahi, Seyed Hamid

2012-05-26

Pseudomonas aeruginosa is an uncommon cause of community-acquired pneumonia in immune-competent hosts. It is commonly seen in patients with structural lung abnormality such as cystic fibrosis or in immune compromised hosts. Here, the authors report a case of community-acquired Pseudomonas pneumonia in a 26-year old healthy man who presented with 8-week history of malaise and cough.

Method for distributed object communications based on dynamically acquired and assembled software components

NASA Technical Reports Server (NTRS)

Sundermier, Amy (Inventor)

2002-01-01

A method for acquiring and assembling software components at execution time into a client program, where the components may be acquired from remote networked servers is disclosed. The acquired components are assembled according to knowledge represented within one or more acquired mediating components. A mediating component implements knowledge of an object model. A mediating component uses its implemented object model knowledge, acquired component class information and polymorphism to assemble components into an interacting program at execution time. The interactions or abstract relationships between components in the object model may be implemented by the mediating component as direct invocations or indirect events or software bus exchanges. The acquired components may establish communications with remote servers. The acquired components may also present a user interface representing data to be exchanged with the remote servers. The mediating components may be assembled into layers, allowing arbitrarily complex programs to be constructed at execution time.

Acquired pit of the optic nerve: a risk factor for progression of glaucoma.

PubMed

Ugurlu, S; Weitzman, M; Nduaguba, C; Caprioli, J

1998-04-01

To examine acquired pit of the optic nerve as a risk factor for progression of glaucoma. In a retrospective longitudinal study, 25 open-angle glaucoma patients with acquired pit of the optic nerve were compared with a group of 24 open-angle glaucoma patients without acquired pit of the optic nerve. The patients were matched for age, mean intraocular pressure, baseline ratio of neuroretinal rim area to disk area, visual field damage, and duration of follow-up. Serial optic disk photographs and visual fields of both groups were evaluated by three independent observers for glaucomatous progression. Of 46 acquired pits of the optic nerve in 37 eyes of 25 patients, 36 pits were located inferiorly (76%) and 11 superiorly (24%; P < .001). Progression of optic disk damage occurred in 16 patients (64%) in the group with acquired pit and in three patients (12.5%) in the group without acquired pit (P < .001). Progression of visual field loss occurred in 14 patients (56%) in the group with acquired pit and in six (25%) in the group without pit (P=.04). Bilateral acquired pit of the optic nerve was present in 12 patients (48%). Disk hemorrhages were observed more frequently in the group with acquired pit (10 eyes, 40%) compared with the group without pit (two eyes, 8%; P=.02). Among patients with glaucoma, patients with acquired pit of the optic nerve represent a subgroup who are at increased risk for progressive optic disk damage and visual field loss.

DNA polymerase-α regulates type I interferon activation through cytosolic RNA:DNA synthesis

PubMed Central

Starokadomskyy, Petro; Gemelli, Terry; Rios, Jonathan J.; Xing, Chao; Wang, Richard C.; Li, Haiying; Pokatayev, Vladislav; Dozmorov, Igor; Khan, Shaheen; Miyata, Naoteru; Fraile, Guadalupe; Raj, Prithvi; Xu, Zhe; Xu, Zigang; Ma, Lin; Lin, Zhimiao; Wang, Huijun; Yang, Yong; Ben-Amitai, Dan; Orenstein, Naama; Mussaffi, Huda; Baselga, Eulalia; Tadini, Gianluca; Grunebaum, Eyal; Sarajlija, Adrijan; Krzewski, Konrad; Wakeland, Edward K.; Yan, Nan; de la Morena, Maria Teresa; Zinn, Andrew R.; Burstein, Ezra

2016-01-01

Aberrant nucleic acids generated during viral replication are the main trigger for antiviral immunity, and mutations disrupting nucleic acid metabolism can lead to autoinflammatory disorders. Here we investigated the etiology of X-linked reticulate pigmentary disorder (XLPDR), a primary immunodeficiency with autoinflammatory features. We discovered that XLPDR is caused by an intronic mutation that disrupts expression of POLA1, the gene encoding the catalytic subunit of DNA polymerase-α. Unexpectedly, POLA1 deficiency results in increased type I interferon production. This enzyme is necessary for RNA:DNA primer synthesis during DNA replication and strikingly, POLA1 is also required for the synthesis of cytosolic RNA:DNA, which directly modulates interferon activation. Altogether, this work identified POLA1 as a critical regulator of the type I interferon response. PMID:27019227

Solithromycin for the treatment of community-acquired bacterial pneumonia.

PubMed

Viasus, Diego; Ramos, Oscar; Ramos, Leidy; Simonetti, Antonella F; Carratalà, Jordi

2017-01-01

Community-acquired pneumonia is a major public health problem worldwide. In recent years, there has been an increase in the frequency of resistance to the antimicrobials such as β-lactams or macrolides which have habitually been used against the causative pathogens. Solithromycin, a next-generation macrolide, is the first fluoroketolide with activity against most of the frequently isolated bacteria in community-acquired pneumonia, including typical and atypical bacteria as well as macrolide-resistant Streptococcus pneumoniae. Areas covered: A detailed assessment of the literature relating to the antimicrobial activity, pharmacokinetic/pharmacodynamic properties, efficacy, tolerability and safety of solithromycin for the treatment of community-acquired bacterial pneumonia Expert commentary: Recent randomized controlled phase II/III trials have demonstrated the equivalent efficacy of oral and intravenous solithromycin compared with fluoroquinolones in patients with lower mild-to-moderate respiratory infections, and have shown that systemic adverse events are comparable between solithromycin and alternative treatments. However, studies of larger populations which are able to identify infrequent adverse events are now needed to confirm these findings. On balance, current data supports solithromycin as a promising therapy for empirical treatment in adults with community-acquired bacterial pneumonia.

Dermoscopic and reflectance confocal microscopic features of exogenous ochronosis.

PubMed

Gil, Inmaculada; Segura, Sonia; Martínez-Escala, Estela; Lloreta, Josep; Puig, Susana; Vélez, Mariano; Pujol, Ramón M; Herrero-González, Josep E

2010-09-01

Exogenous ochronosis presents as an acquired asymptomatic hyperpigmentation on photoexposed areas, predominantly over bony prominences, and is caused by the topical application of several skin-lightening agents. We describe a 63-year-old Hispanic woman who developed exogenous ochronosis lesions on her face after using topical bleaching creams containing hydroquinone, 2% to 3%, and oxybenzone, 2%, for several years. Dermoscopy revealed irregular brown-gray globular, annular, and arciform structures that corresponded to focal deposition of ochronotic pigment on the dermis. These deposits correlated with multiple banana-shaped nonrefractile structures seen using reflectance confocal microscopy. Histopathologic sections revealed the deposition of a banana-shaped, yellow to brown material in the papillary and middle dermis. Ultrastructural examination revealed an amorphous electron-dense material mostly located in the core of elastic fibers and also in smaller amounts in the interstitium with prominent degenerative changes in the elastic fibers. A good correlation was observed between the results of both noninvasive techniques and the diagnostic histologic features of this condition. We characterized by means of dermoscopy, reflectance confocal microscopy, and electronic microscopy a case of exogenous ochronosis. To our knowledge, this is the first description of reflectance confocal microscopic findings in this condition. Dermoscopy and reflectance confocal microscopy are proved to be useful noninvasive techniques for the diagnosis of this pigmentary disorder.

"A constant struggle to receive mental health care": health care professionals' acquired experience of barriers to mental health care services in Rwanda.

PubMed

Rugema, Lawrence; Krantz, Gunilla; Mogren, Ingrid; Ntaganira, Joseph; Persson, Margareta

2015-12-16

In Rwanda, many people are still mentally affected by the consequences of the genocide and yet mental health care facilities are scarce. While available literature explains the prevalence and consequences of mental disorders, there is lack of knowledge from low-income countries on health care seeking behavior due to common mental disorders. Therefore, this study sought to explore health care professionals' acquired experiences of barriers and facilitators that people with common mental disorders face when seeking mental health care services in Rwanda. A qualitative approach was applied and data was collected from six focus group discussions (FGDs) conducted in October 2012, including a total of 43 health care professionals, men and women in different health professions. The FGDs were performed at health facilities at different care levels. Data was analyzed using manifest and latent content analysis. The emerging theme "A constant struggle to receive mental health care for mental disorders" embraced a number of barriers and few facilitators at individual, family, community and structural levels that people faced when seeking mental health care services. Identified barriers people needed to overcome were: Poverty and lack of family support, Fear of stigmatization, Poor community awareness of mental disorders, Societal beliefs in traditional healers and prayers, Scarce resources in mental health care and Gender imbalance in care seeking behavior. The few facilitators to receive mental health care were: Collaboration between authorities and organizations in mental health and having a Family with awareness of mental disorders and health insurance. From a public health perspective, this study revealed important findings of the numerous barriers and the few facilitating factors available to people seeking health for mental disorders. Having a supportive family with awareness of mental disorders who also were equipped with a health insurance was perceived as vital for

Diagnostic and prognostic value of factor VIII binding antibodies in acquired hemophilia A: data from the GTH-AH 01/2010 study.

PubMed

Werwitzke, S; Geisen, U; Nowak-Göttl, U; Eichler, H; Stephan, B; Scholz, U; Holstein, K; Klamroth, R; Knöbl, P; Huth-Kühne, A; Bomke, B; Tiede, A

2016-05-01

Essentials Factor VIII (FVIII) binding IgG detected by ELISA could be an alternative to the Bethesda assay. We studied the performance of anti-FVIII IgG ELISA in patients with acquired hemophilia and controls. Anti-FVIII IgG > 99th percentile of controls was highly sensitive and specific. Patients with high anti-FVIII IgG have a lower chance of achieving remission. Background Acquired hemophilia A is a severe bleeding disorder that requires fast and accurate diagnosis as it occurs often unexpectedly in previously healthy men and women of every age. The Nijmegen-modified Bethesda assay is the diagnostic reference standard for detecting neutralizing autoantibodies against factor VIII (FVIII), but is not widely available, not ideal for quantifying the complex type 2 inhibitors seen in acquired hemophilia, and suffers from high inter-laboratory variability. Objectives To assess the diagnostic and prognostic value of FVIII-binding antibodies as detected by ELISA compared with the Nijmegen Bethesda assay. Methods Samples from the time of first diagnosis and clinical data were available from 102 patients with acquired hemophilia enrolled in the prospective GTH-AH 01/2010 study. Controls (n = 102) were matched for gender and age. Diagnostic cut-offs were determined by receiver-operator curve analysis. The prognostic value was assessed in 92 of the 102 patients by Cox regression analysis of time to partial remission. Results Anti-FVIII IgG above the 99th percentile (> 15 arbitrary units per mL) revealed high sensitivity and specificity (both 0.99; 95% confidence interval, 0.95-1.0) for diagnosing acquired hemophilia. The likelihood of achieving partial remission was related to anti-FVIII IgG concentration (< 300 arbitrary units, 1.0; 300-1050, 0.65; > 1050, 0.39). The Bethesda titer was only associated with the likelihood of partial remission when analyzed in the central laboratory, but not when data from local GTH study sites were used. Conclusion Although the Nijmegen

Summary and Review of the Abstracts on Disorders of Red Cells and Erythropoiesis Presented at Haematocon 2016-2017.

PubMed

Sharma, Prashant

2018-01-01

Disorders of red cells and erythropoiesis encompass a vast array of inherited and acquired conditions, several of which are important not just medically but are also concern public health and policy making. Research in India in this area has been plentiful and has, in the past, focused on the laboratory diagnosis and clinical management of these disorders as well as their basic underlying pathogenesis. In the last 2 years too, papers presented at the annual national conferences of the Indian Society of Haematology and Blood Transfusion, ISHBT (Haematocon 2016 and 2017) presented a snapshot of the contemporary research activities that are ongoing in various academic and other centres. This mini-review analyzes and summarizes the salient findings of the original research abstracts presented. The papers are divided into broad subsections of α- and β- thalassemias with the hemoglobinopathies, iron deficiency and overload states, red cell membranopathies and enzymopathies, and acquired hemolytic anemias.

Clinical role of Cefixime in community-acquired infections.

PubMed

Dreshaj, Sh; Doda-Ejupi, T; Tolaj, I Q; Mustafa, A; Kabashi, S; Shala, N; Geca, Nj; Aliu, A; Daka, A; Basha, N

2011-01-01

Cefixime is an oral third generation cephalosporin, frequently used in respiratory tract infections (RTI) in the pediatric population. However, in some publications cefixime has demonstrated poor efficacy against staphylococci and streptococci. of this study was to evaluate the efficacy of cefixime in the treatment of community-acquired infections in a country where parenteral third generation cephalosporins have been used for a long time. The present study was designed to assess the clinical efficacy, bacteriological eradication rates and tolerability of cefixime in children with community-acquired upper RTI (URTI), lower RTI (LRTI) and uncomplicated urinary tract infections (UTI). The study was prospective, open, and included 89 patients, from 6 months to 28 years, of both sexes, with the diagnosis of community-acquired URTI, LRTI and UTI. The treatment with cefixime was successful in 30/30 (100%) patients suffering from acute otitis media (AOM), in 10/12 (83.3%) with acute sinusitis, in 12/12 patients (100%) with pneumonia, in 31/35 (88.57) with uncomplicated UTI. The antibiotic was well tolerated. In 10 days treatment we recorded one case (1.3%) with acute gastroenteritis and two cases (2.6%) of maculopapular rash. Side-effects were transient and disappeared after finishing therapy in all three of the cases. Community-acquired infections, such as AOM, LRTI and UTI, caused by susceptible pathogens, can be treated with cefixime, as a good choice for a successful clinical response.

Patients' Hand Washing and Reducing Hospital-Acquired Infection.

PubMed

Haverstick, Stacy; Goodrich, Cara; Freeman, Regi; James, Shandra; Kullar, Rajkiran; Ahrens, Melissa

2017-06-01

Hand hygiene is important to prevent hospital-acquired infections. Patients' hand hygiene is just as important as hospital workers' hand hygiene. Hospital-acquired infection rates remain a concern across health centers. To improve patients' hand hygiene through the promotion and use of hand washing with soap and water, hand sanitizer, or both and improve patients' education to reduce hospital-acquired infections. In August 2013, patients in a cardiothoracic postsurgical step-down unit were provided with individual bottles of hand sanitizer. Nurses and nursing technicians provided hand hygiene education to each patient. Patients completed a 6-question survey before the intervention, at hospital discharge and 1, 2, and 3 months after the intervention. Hospital-acquired infection data were tracked monthly by infection prevention staff. Significant correlations were found between hand hygiene and rates of infection with vancomycin-resistant enterococci ( P = .003) and methicillin-resistant Staphylococcus aureus ( P = .01) after the intervention. After the implementation of hand hygiene interventions, rates of both infections declined significantly and patients reported more staff offering opportunities for and encouraging hand hygiene. This quality improvement project demonstrates that increased hand hygiene compliance by patients can influence infection rates in an adult cardiothoracic step-down unit. The decreased infection rates and increased compliance with hand hygiene among the patients may be attributed to the implementation of patient education and the increased accessibility and use of hand sanitizer. ©2017 American Association of Critical-Care Nurses.

A Review of Sleep Disorder Diagnosis by Electromyogram Signal Analysis.

PubMed

Shokrollahi, Mehrnaz; Krishnan, Sridhar

2015-01-01

Sleep and sleep-related problems play a role in a large number of human disorders and affect every field of medicine. It is estimated that 50 to 70 million Americans suffer from a chronic sleep disorder, which hinders their daily life, affects their health, and confers a significant economic burden to society. The negative public health consequences of sleep disorders are enormous and could have long-term effects, including increased risk of hypertension, diabetes, obesity, heart attack, stroke and in some cases death. Polysomnographic modalities can monitor sleep cycles to identify disrupted sleep patterns, adjust the treatments, increase therapeutic options and enhance the quality of life of recording the electroencephalogram (EEG), electromyogram (EMG) and electrocardiogram (ECG). Although the skills acquired by medical facilitators are quite extensive, it is just as important for them to have access to an assortment of technologies and to further improve their monitoring and treatment capabilities. Computer-aided analysis is one advantageous technique that could provide quantitative indices for sleep disorder screening. Evolving evidence suggests that Parkinson's disease may be associated with rapid eye movement sleep behavior disorder (RBD). With this article, we are reviewing studies that are related to EMG signal analysis for detection of neuromuscular diseases that result from sleep movement disorders. As well, the article describes the recent progress in analysis of EMG signals using temporal analysis, frequency-domain analysis, time-frequency, and sparse representations, followed by the comparison of the recent research.

Acquired Large Calcified Unruptured Sinus of Valsalva Aneurysm.

PubMed

Park, Sang-Hyun; Seol, Sang-Hoon; Seo, Guang-Won; Song, Pil-Sang; Kim, Dong-Kie; Kim, Ki-Hun; Kim, Doo-Il

2015-11-01

Acquired aneurysms of the sinus of Valsalva are rare. They are caused by infections such as tuberculosis, syphilis and endocarditis, as well as atherosclerosis and traumatic injury. They may be asymptomatic and incidentally discovered. We present a rare case of a large acquired calcified unruptured aneurysm of the right coronary sinus of Valsalva that was compressing the right ventricular outflow tract. Copyright © 2015 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by Elsevier B.V. All rights reserved.

Community-Acquired Acute Kidney Injury: A Nationwide Survey in China.

PubMed

Wang, Yafang; Wang, Jinwei; Su, Tao; Qu, Zhen; Zhao, Minghui; Yang, Li

2017-05-01

This study aimed to describe the burden of community-acquired acute kidney injury (AKI) in China based on a nationwide survey about AKI. Cross-sectional and retrospective study. A national sample of 2,223,230 hospitalized adult patients from 44 academic/local hospitals in Mainland China was used. AKI was defined according to the 2012 KDIGO AKI creatinine criteria or an increase or decrease in serum creatinine level of 50% during the hospital stay. Community-acquired AKI was identified when a patient had AKI that could be defined at hospital admission. The rate, cause, recognition, and treatment of community-acquired AKI were stratified according to hospital type, latitude, and economic development of the regions in which the patients were admitted. All-cause in-hospital mortality and recovery of kidney function at hospital discharge. 4,136 patients with community-acquired AKI were identified during the 2 single-month snapshots (January 2013 and July 2013). Of these, 2,020 (48.8%) had cases related to decreased kidney perfusion; 1,111 (26.9%), to intrinsic kidney disease; and 499 (12.1%), to urinary tract obstruction. In the north versus the south, more patients were exposed to nephrotoxins or had urinary tract obstructions. 536 (13.0%) patients with community-acquired AKI had indications for renal replacement therapy (RRT), but only 347 (64.7%) of them received RRT. Rates of timely diagnosis and appropriate use of RRT were higher in regions with higher per capita gross domestic product. All-cause in-hospital mortality was 7.3% (295 of 4,068). Delayed AKI recognition and being located in northern China were independent risk factors for in-hospital mortality, and referral to nephrology providers was an independent protective factor. Possible misclassification of AKI and community-acquired AKI due to nonstandard definitions and missing data for serum creatinine. The features of community-acquired AKI varied substantially in different regions of China and were closely

Comparison of brain connectivity between Internet gambling disorder and Internet gaming disorder: A preliminary study.

PubMed

Bae, Sujin; Han, Doug Hyun; Jung, Jaebum; Nam, Ki Chun; Renshaw, Perry F

2017-12-01

Background and aims Given the similarities in clinical symptoms, Internet gaming disorder (IGD) is thought to be diagnostically similar to Internet-based gambling disorder (ibGD). However, cognitive enhancement and educational use of Internet gaming suggest that the two disorders derive from different neurobiological mechanisms. The goal of this study was to compare subjects with ibGD to those with IGD. Methods Fifteen patients with IGD, 14 patients with ibGD, and 15 healthy control subjects were included in this study. Resting-state functional magnetic resonance imaging data for all participants were acquired using a 3.0 Tesla MRI scanner (Philips, Eindhoven, The Netherlands). Seed-based analyses, the three brain networks of default mode, cognitive control, and reward circuitry, were performed. Results Both IGD and ibGD groups demonstrated decreased functional connectivity (FC) within the default-mode network (DMN) (family-wise error p < .001) compared with healthy control subjects. However, the IGD group demonstrated increased FC within the cognitive network compared with both the ibGD (p < .01) and healthy control groups (p < .01). In contrast, the ibGD group demonstrated increased FC within the reward circuitry compared with both IGD (p < .01) and healthy control subjects (p < .01). Discussion and conclusions The IGD and ibGD groups shared the characteristic of decreased FC in the DMN. However, the IGD group demonstrated increased FC within the cognitive network compared with both ibGD and healthy comparison groups.

Foodborne listeriosis acquired in hospitals.

PubMed

Silk, Benjamin J; McCoy, Morgan H; Iwamoto, Martha; Griffin, Patricia M

2014-08-15

Listeriosis is characterized by bacteremia or meningitis. We searched for listeriosis case series and outbreak investigations published in English by 2013, and assessed the strength of evidence for foodborne acquisition among patients who ate hospital food. We identified 30 reports from 13 countries. Among the case series, the median proportion of cases considered to be hospital-acquired was 25% (range, 9%-67%). The median number of outbreak-related illnesses considered to be hospital-acquired was 4.0 (range, 2-16). All patients were immunosuppressed in 18 of 24 (75%) reports with available data. Eight outbreak reports with strong evidence for foodborne acquisition in a hospital implicated sandwiches (3 reports), butter, precut celery, Camembert cheese, sausage, and tuna salad (1 report each). Foodborne acquisition of listeriosis among hospitalized patients is well documented internationally. The number of listeriosis cases could be reduced substantially by establishing hospital policies for safe food preparation for immunocompromised patients and by not serving them higher-risk foods. Published by Oxford University Press on behalf of the Infectious Diseases Society of America 2014. This work is written by (a) US Government employee(s) and is in the public domain in the US.

How Did Light Acquire a Velocity?

ERIC Educational Resources Information Center

Lauginie, Pierre

2013-01-01

We discuss how light acquired a velocity through history, from the ancient Greeks to the early modern era. Combining abstract debates, models of light, practical needs, planned research and chance, this history illustrates several key points that should be brought out in science education.

Free Reading: A Powerful Tool for Acquiring a Second Language

ERIC Educational Resources Information Center

Priya, J.; Ponniah, R. Joseph

2013-01-01

The paper claims that free reading is a crucial ingredient in acquiring a second or foreign language. It contributes to the development of all measures of language competence which include grammar, vocabulary, spelling, syntax, fluency and style. The review supports the claim that readers acquire language subconsciously when they receive…

Increased risk of comorbid rheumatic disorders in vitiligo patients: A nationwide population-based study.

PubMed

Choi, Chong Won; Eun, Sung Hye; Choi, Kwang Hyun; Bae, Jung Min

2017-08-01

Vitiligo is a common acquired depigmentation disorder. Previous studies have shown that vitiligo is associated with a variety of autoimmune disorders. However, a large-scale epidemiological study focused on comorbid rheumatic disorders has not been undertaken. To clarify the associations between vitiligo and various rheumatic disorders, we performed a cross-sectional study using data from the Korean National Health Insurance claims database. Between 2009 and 2013, totals of 86 210 patients with vitiligo and 172 420 age- and sex-matched controls without vitiligo were enrolled in this study. Vitiligo patients were found to be at increased risk of systemic lupus erythematosus, systemic sclerosis, Sjögren's syndrome and rheumatoid arthritis, but no significant association was found between vitiligo and dermatomyositis/polymyositis, Behçet's disease or ankylosing spondylitis. Subgroup analysis showed an increased risk of dermatomyositis/polymyositis in male and ankylosing spondylitis in female vitiligo patients. The risks of dermatomyositis/polymyositis or ankylosing spondylitis were higher in young vitiligo patients. Our study confirms a significant association between vitiligo and rheumatic disorders. Differences in comorbid rheumatic disorders by age group and sex suggest the need for patient-specific approaches. Careful consideration of rheumatic disorders is required for the proper management of comorbidities in vitiligo patients. © 2017 Japanese Dermatological Association.

Treatment of Laugier-Hunziker syndrome with the Q-switched alexandrite laser in 22 Chinese patients.

PubMed

Zuo, Ya-Gang; Ma, Dong-Lai; Jin, Hong-Zhong; Liu, Yue-Hua; Wang, Hong-Wei; Sun, Qiu-Ning

2010-03-01

Laugier-Hunziker syndrome (LHS), a rare, acquired pigmentary disorder of the lips, oral mucosa, and fingers, is known to be an entirely benign disease with no systemic manifestations. In the past, the pigmentation has been treated efficiently in a few patients with the Q-switched neodymium: yttrium-aluminum-garnet (Nd:YAG) laser and the Q-switched alexandrite laser (QSAL). In order to evaluate the efficacy and safety of QSAL on Chinese patients of LHS, we treated 22 patients with QSAL in the past 5 years. Treatments were delivered on a bimonthly or trimonthly basis until the abnormal pigmentation totally disappeared. Patients were evaluated at each visit for evidence of dyspigmentation, scarring, or other untoward effects from the laser treatment. Our 22 subjects consisted of 18 females and 4 males with a mean age of 42.4 years. After only one session of laser treatment, the clearing on the lips was as follow: 18 (81.8%) excellent, 2 (9.1%) good, 1 (4.5%) fair and 1 (4.5%) poor. Eighteen patients (81.8%) with LHS, who had achieved excellent clearing after only one session of laser treatment, did not receive further treatment. Among the left four patients, three patients (13.6%) achieved complete results after three laser treatments. Only one patient required six sessions to achieve complete clearance. No scarring was noted after any of the treatments. The appearance of pigmentation on mucous membranes in a middle-aged patient without a significant family history for skin disorders should prompt consideration for the possible diagnosis of LHS. Our study has also demonstrated QSAL to be highly effective and safe in the treatment of LHS.

Acquisition of CS-US contingencies during Pavlovian fear conditioning and extinction in social anxiety disorder and posttraumatic stress disorder.

PubMed

Rabinak, Christine A; Mori, Shoko; Lyons, Maryssa; Milad, Mohammed R; Phan, K Luan

2017-01-01

Fear-based disorders, like social anxiety disorder (SAD) and posttraumatic stress disorder (PTSD), are characterized by an exaggerated fear response and avoidance to trigger cues, suggesting a transdiagnostic mechanism of psychopathology. Current theories suggest that abnormalities in conditioned fear is a primary contributor to the pathophysiology of these disorders. The primary goal of this study was to compare acquisition of conditioned stimulus (CS) and aversive unconditioned stimulus (US) contingencies during fear learning and extinction in individuals with SAD and PTSD. In a standard Pavlovian fear conditioning-extinction paradigm we measured subjective US expectancy ratings to different CSs in patients with SAD (n=16) compared to patients with PTSD (n=13) and healthy controls (n=15) RESULTS: Both patient groups (SAD, PTSD) acquired differential conditioning between a CS that predicted US (CS+) and a CS that never predicted the US (CS-), however, both groups reported an increased expectancy that the US would occur following the CS-. Additionally, the PTSD group overestimated that the US would occur in general. Neither patient group showed evidence of successful extinction of the CS+-US contingency nor differentiated their expectation of US occurrence between the CS+ and CS- during extinction learning. Group sample sizes were small and we did not include a trauma-exposed group without PTSD CONCLUSIONS: Both SAD and PTSD generalize expectations of an aversive outcome across CSs, even when a CS never signals an aversive outcome and PTSD may tend to over-expect threat. Fear learning and extinction abnormalities may be a core feature underlying shared symptoms across fear-based disorders. Copyright © 2016 Elsevier B.V. All rights reserved.

Posttraumatic Stress Disorder in Children Exposed to Intimate Partner Violence: The Clinical Picture of Physiological Arousal Symptoms

ERIC Educational Resources Information Center

Horn, Sarah R.; Miller-Graff, Laura E.; Galano, Maria M.; Graham-Bermann, Sandra A.

2017-01-01

In recent years, researchers have focused on acquiring a better understanding of the development of posttraumatic stress disorder (PTSD) in children under the age of six following exposure to chronic trauma, such as intimate partner violence (IPV). Despite a number of empirical studies on early childhood PTSD, few have examined how children differ…

Explosive, Oppositional, and Aggressive Behavior in Children with Autism Compared to Other Clinical Disorders and Typical Children

ERIC Educational Resources Information Center

Mayes, Susan Dickerson; Calhoun, Susan L.; Aggarwal, Richa; Baker, Courtney; Mathapati, Santoshkumar; Anderson, Robert; Petersen, Christopher

2012-01-01

Maternal ratings of explosiveness, opposition, and aggression were analyzed in 1609 children 6-16 years of age. Behavior problems were common in autism, ADHD-Combined type, and depression, whereas children with ADHD-Inattentive type, anxiety disorder, and acquired brain injury did not differ from typical controls. More than 40% of children with…

Pregnancy outcomes following recovery from acquired thrombotic thrombocytopenic purpura

PubMed Central

Jiang, Yang; McIntosh, Jennifer J.; Reese, Jessica A.; Deford, Cassandra C.; Kremer Hovinga, Johanna A.; Lämmle, Bernhard; Terrell, Deirdra R.; Vesely, Sara K.; Knudtson, Eric J.

2014-01-01

Pregnancy may precipitate acute episodes of thrombotic thrombocytopenic purpura (TTP), but pregnancy outcomes in women who have recovered from acquired TTP are not well documented. We analyzed pregnancy outcomes following recovery from TTP associated with acquired, severe ADAMTS13 deficiency (ADAMTS13 activity <10%) in women enrolled in the Oklahoma TTP-HUS Registry from 1995 to 2012. We also systematically searched for published reports on outcomes of pregnancies following recovery from TTP associated with acquired, severe ADAMTS13 deficiency. Ten women in the Oklahoma Registry had 16 subsequent pregnancies from 1999 to 2013. Two women had recurrent TTP, which occurred 9 and 29 days postpartum. Five of 16 pregnancies (31%, 95% confidence interval, 11%-59%) in 3 women were complicated by preeclampsia, a frequency greater than US population estimates (2.1%-3.2%). Thirteen (81%) pregnancies resulted in normal children. The literature search identified 382 articles. Only 6 articles reported pregnancies in women who had recovered from TTP associated with acquired, severe ADAMTS13 deficiency, describing 10 pregnancies in 8 women. TTP recurred in 6 pregnancies. Conclusions: With prospective complete follow-up, recurrent TTP complicating subsequent pregnancies in Oklahoma patients is uncommon, but the occurrence of preeclampsia may be increased. Most pregnancies following recovery from TTP in Oklahoma patients result in normal children. PMID:24398329

Biology and genetics of oculocutaneous albinism and vitiligo - common pigmentation disorders in southern Africa.

PubMed

Manga, Prashiela; Kerr, Robyn; Ramsay, Michèle; Kromberg, Jennifer G R

2013-07-29

Pigmentation disorders span the genetic spectrum from single-gene autosomal recessive disorders such as oculocutaneous albinism (OCA), the autosomal dominant disorder piebaldism to X-linked ocular albinism and multifactorial vitiligo. OCA connotes a group of disorders that result in hypopigmented skin due to decreased melanin production in melanocytes and loss of visual acuity. There are four non-syndromic forms, OCA1-4, which are classified based on the gene that is mutated (tyrosinase, OCA2, tyrosinase-related protein 1 and SLC45A2, respectively). Despite the fact that multiple genes account for the various forms of OCA, the phenotypes of all four forms result from disruption in the maturation and trafficking of the enzyme tyrosinase. OCA2 is the most prevalent autosomal recessive disorder among southern African blacks, affecting 1/3 900 individuals; while OCA3, although rare, is most prevalent in southern Africa. Another common pigmentation disorder in southern Africa is vitiligo, which affects 1 - 2% of people worldwide. Vitiligo is a complex, acquired disorder in which melanocytes are destroyed due to an autoimmune response. The aetiology underlying this disorder is poorly understood, although recent genetic association studies have begun to shed light on the contributing factors. Pigmentation disorders have significant psychosocial implications and co-morbidities, yet therapies are still lacking. Recent progress in our understanding of the pathobiology of both albinism and vitiligo may herald novel treatment strategies for these disorders. 

Forest abovegroundbiomass mapping using spaceborne stereo imagery acquired by Chinese ZY-3

NASA Astrophysics Data System (ADS)

Sun, G.; Ni, W.; Zhang, Z.; Xiong, C.

2015-12-01

Besides LiDAR data, another valuable type of data which is also directly sensitive to forest vertical structures and more suitable for regional mapping of forest biomass is the stereo imagery or photogrammetry. Photogrammetry is the traditional technique for deriving terrain elevation. The elevation of the top of a tree canopy can be directly measured from stereo imagery but winter images are required to get the elevation of ground surface because stereo images are acquired by optical sensors which cannot penetrate dense forest canopies with leaf-on condition. Several spaceborne stereoscopic systems with higher spatial resolutions have been launched in the past several years. For example the Chinese satellite Zi Yuan 3 (ZY-3) specifically designed for the collection of stereo imagery with a resolution of 3.6 m for forward and backward views and 2.1 m for the nadir view was launched on January 9, 2012. Our previous studies have demonstrated that the spaceborne stereo imagery acquired in summer has good performance on the description of forest structures. The ground surface elevation could be extracted from spaceborne stereo imagery acquired in winter. This study mainly focused on assessing the mapping of forest biomass through the combination of spaceborne stereo imagery acquired in summer and those in winter. The test sites of this study located at Daxing AnlingMountains areas as shown in Fig.1. The Daxing Anling site is on the south border of boreal forest belonging to frigid-temperate zone coniferous forest vegetation The dominant tree species is Dhurian larch (Larix gmelinii). 10 scenes of ZY-3 stereo images are used in this study. 5 scenes were acquired on March 14,2012 while the other 5 scenes were acquired on September 7, 2012. Their spatial coverage is shown in Fig.2-a. Fig.2-b is the mosaic of nadir images acquired on 09/07/2012 while Fig.2-c is thecorresponding digital surface model (DSM) derived from stereo images acquired on 09/07/2012. Fig.2-d is the

Neurological Correlates of Reward Responding in Adolescents With and Without Externalizing Behavior Disorders

PubMed Central

Gatzke-Kopp, Lisa M.; Beauchaine, Theodore P.; Shannon, Katherine E.; Chipman, Jane; Fleming, Andrew P.; Crowell, Sheila E.; Liang, Olivia; Aylward, Elizabeth; Johnson, L. Clark

2009-01-01

Opposing theories of striatal hyper- and hypodopaminergic functioning have been suggested in the pathophysiology of externalizing behavior disorders. To test these competing theories, the authors used functional MRI to evaluate neural activity during a simple reward task in 12- to 16-year-old boys with attention-deficit/hyperactivity disorder and/or conduct disorder (n = 19) and in controls with no psychiatric condition (n = 11). The task proceeded in blocks during which participants received either (a) monetary incentives for correct responses or (b) no rewards for correct responses. Controls exhibited striatal activation only during reward, shifting to anterior cingulate activation during nonreward. In contrast, externalizing adolescents exhibited striatal activation during both reward and nonreward. Externalizing psychopathology appears to be characterized by deficits in processing the omission of predicted reward, which may render behaviors that are acquired through environmental contingencies difficult to extinguish when those contingencies change. PMID:19222326

Stem cell therapy and its potential role in pituitary disorders.

PubMed

Lara-Velazquez, Montserrat; Akinduro, Oluwaseun O; Reimer, Ronald; Woodmansee, Whitney W; Quinones-Hinojosa, Alfredo

2017-08-01

The pituitary gland is one of the key components of the endocrine system. Congenital or acquired alterations can mediate destruction of cells in the gland leading to hormonal dysfunction. Even though pharmacological treatment for pituitary disorders is available, exogenous hormone replacement is neither curative nor sustainable. Thus, alternative therapies to optimize management and improve quality of life are desired. An alternative modality to re-establish pituitary function is to promote endocrine cell regeneration through stem cells that can be obtained from the pituitary parenchyma or pluripotent cells. Stem cell therapy has been successfully applied to a plethora of other disorders, and is a promising alternative to hormonal supplementation for resumption of normal hormone homeostasis. In this review, we describe the common causes for pituitary deficiencies and the advances in cellular therapy to restore the physiological pituitary function.

Investigations of the pathogenesis of acquired pendular nystagmus

NASA Technical Reports Server (NTRS)

Averbuch-Heller, L.; Zivotofsky, A. Z.; Das, V. E.; DiScenna, A. O.; Leigh, R. J.

1995-01-01

We investigated the pathogenesis of acquired pendular nystagmus (APN) in six patients, three of whom had multiple sclerosis. First, we tested the hypothesis that the oscillations of APN are due to a delay in visual feedback secondary, for example, to demyelination of the optic nerves. We manipulated the latency to onset of visually guided eye movements using an electronic technique that induces sinusoidal oscillations in normal subjects. This manipulation did not change the characteristics of the APN, but did superimpose lower-frequency oscillations similar to those induced in normal subjects. These results are consistent with current models for smooth (non-saccadic) eye movements, which predict that prolongation of visual feedback could not account for the high-frequency oscillations that often characterize APN. Secondly, we attempted to determine whether an increase in the gain of the visually-enhanced vestibulo-ocular reflex (VOR), produced by viewing a near target, was accompanied by a commensurate increase in the amplitude of APN. Increases in horizontal or vertical VOR gain during near viewing occurred in four patients, but only two of them showed a parallel increase in APN amplitude. On the other hand, APN amplitude decreased during viewing of the near target in the two patients who showed no change in VOR gain. Taken together, these data suggest that neither delayed visual feedback nor a disorder of central vestibular mechanisms is primarily responsible for APN. More likely, these ocular oscillations are produced by abnormalities of internal feedback circuits, such as the reciprocal connections between brainstem nuclei and cerebellum.

[Community acquired bacterial meningitis in patients over 60].

PubMed

Mora Mora, Luis A; Arco Espinosa, Micke E de; Plumet, Javier; Micheli, Federico

2015-01-01

Acute bacterial meningitis has a global mortality rate of 135000 cases per year. In Argentina over the last 12 years, the annual incidence rate has been 5.5/100 000. About 20% of patients present neurological sequelae, which are more common in patients aged 60 or older. Our objective here is to determine the clinical characteristics, the most common causes and to measure evolution in patients over 60 years old diagnosed with meningitis and treated at the Hospital de Clinicas José de San Martín. This is a retrospective study based on a review of medical records from 2003 to 2013 that takes into account patients older than 60 who were diagnosed with acute bacterial meningitis acquired in the community by a microbiological diagnosis of CSF or those included due to a high suspicion of bacterial meningitis (pleocitosis > 2000 cells/mm3, proteins > 220 mg/dl, glycorrhachia < 34 mg/dl, glycorrhachia/glucose index < 0.23). Cases of TB meningitis, nosocomial, postoperative and other nonbacterial meningitis were excluded. Sixty nine patients were included, 45 (65%) were women with an average age of 78 ± 10.6 years. Only 40% had the triad of classical meningitis symptoms (stiff neck, fever and altered mental status). In 52% of the patients germs developed in the CSF, the most frequent being Streptococcus pneumoniae present in 47% of cases. Lethality rate was 41%, all of them by methicillin-sensitive Staphylococcus aureus. Only 24 (35%) cases were admitted into intensive care. The main sequelae present were motor disorders (12%) and hearing loss (5%).

Musicality: instinct or acquired skill?

PubMed

Marcus, Gary F

2012-10-01

Is the human tendency toward musicality better thought of as the product of a specific, evolved instinct or an acquired skill? Developmental and evolutionary arguments are considered, along with issues of domain-specificity. The article also considers the question of why humans might be consistently and intensely drawn to music if musicality is not in fact the product of a specifically evolved instinct. Copyright © 2012 Cognitive Science Society, Inc.

Value-based purchasing and hospital acquired conditions: are we seeing improvement?

PubMed

Spaulding, Aaron; Zhao, Mei; Haley, D Rob

2014-12-01

To determine if the Value-Based Purchasing Performance Scoring system correlates with hospital acquired condition quality indicators. This study utilizes the following secondary data sources: the American Hospital Association (AHA) annual survey and the Centers for Medicare and Medicaid (CMS) Value-Based Purchasing and Hospital Acquired Conditions databases. Zero-inflated negative binomial regression was used to examine the effect of CMS total performance score on counts of hospital acquired conditions. Hospital structure variables including size, ownership, teaching status, payer mix, case mix, and location were utilized as control variables. The secondary data sources were merged into a single database using Stata 10. Total performance scores, which are used to determine if hospitals should receive incentive money, do not correlate well with quality outcome in the form of hospital acquired conditions. Value-based purchasing does not appear to correlate with improved quality and patient safety as indicated by Hospital Acquired Condition (HAC) scores. This leads us to believe that either the total performance score does not measure what it should, or the quality outcome measurements do not reflect the quality of the total performance scores measure. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

A rare case of acquired lymphangioma circumscriptum of the penis.

PubMed

Adikari, S; Philippidou, M; Samuel, M

2017-02-01

Acquired lymphangioma circumscriptum is a rare occurrence on the penis. We report a case of a 47-year-old man who presented with a single lesion of acquired lymphangioma circumscriptum on the penis resembling genital warts. We report the case to increase awareness of this rare condition which may mimic sexually transmitted infections such as genital warts.

Rocky Mountain spotted fever acquired in Florida, 1973-83.

PubMed Central

Sacks, J J; Janowski, H T

1985-01-01

From 1973 to 1983, 49 Florida residents were reported with confirmed Rocky Mountain spotted fever (RMSF), 25 of whom were considered to have had Florida-acquired disease. Although there was no history of tick exposure for six of these 25 persons, all had contact with dogs or outdoor activities during the incubation period. The tick vectors of RMSF are widely distributed throughout Florida. We conclude that RMSF, although rare in Florida, can be acquired in the state. PMID:4061716

A Naturally-Occurring Histone Acetyltransferase Inhibitor Derived from Garcinia indica Impairs Newly Acquired and Reactivated Fear Memories

PubMed Central

Maddox, Stephanie A.; Watts, Casey S.; Doyère, Valérie; Schafe, Glenn E.

2013-01-01

The study of the cellular and molecular mechanisms underlying the consolidation and reconsolidation of traumatic fear memories has progressed rapidly in recent years, yet few compounds have emerged that are readily useful in a clinical setting for the treatment of anxiety disorders such as post-traumatic stress disorder (PTSD). Here, we use a combination of biochemical, behavioral, and neurophysiological methods to systematically investigate the ability of garcinol, a naturally-occurring histone acetyltransferase (HAT) inhibitor derived from the rind of the fruit of the Kokum tree (Garcina indica), to disrupt the consolidation and reconsolidation of Pavlovian fear conditioning, a widely studied rodent model of PTSD. We show that local infusion of garcinol into the rat lateral amygdala (LA) impairs the training and retrieval-related acetylation of histone H3 in the LA. Further, we show that either intra-LA or systemic administration of garcinol within a narrow window after either fear conditioning or fear memory retrieval significantly impairs the consolidation and reconsolidation of a Pavlovian fear memory and associated neural plasticity in the LA. Our findings suggest that a naturally-occurring compound derived from the diet that regulates chromatin function may be useful in the treatment of newly acquired or recently reactivated traumatic memories. PMID:23349897

Acquired Elastotic Hemangioma: Case Series and Comprehensive Literature Review

PubMed Central

Hinds, Brian R

2017-01-01

Background Acquired elastotic hemangioma is a benign vascular proliferation that typically presents as an asymptomatic red plaque on a sun-exposed site of an adult. Material and Methods The PubMed database was used to search the following words: acquired, angioma, arm, basal, carcinoma, cell, elastosis, elastotic, exposed, forearm, hemangioma, solar, sun, and vascular. The relevant papers and reference cited generated by the search were reviewed. The features from a case series of 11 patients with acquired elastotic hemangioma are presented. In addition, a comprehensive review of the characteristics of this unique hemangioma—not only in our 11 patients but also in the previously reported 34 individuals with this lesion—is provided. Results Acquired elastotic hemangioma, reported in 45 patients (24 women and 21 men), typically appeared as an asymptomatic solitary red plaque in sun-exposed areas—most commonly the forearm--of adults aged 50 years or older. The pathology shows a proliferation of vascular channels—surrounded and intertwined by intense solar elastosis--in the upper dermis, located parallel to the overlying epidermis, and separated from it by a zone of normal-appearing superficial papillary dermis. There was extensive solar elastosis surrounding and between the new blood vessels; some of the endothelial cells protrude (in a hob-nail pattern) into the vessel lumen. The clinical differential diagnosis includes basal cell carcinoma and the pathologic differential diagnosis includes other benign, malignant, and reactive vascular lesions. Ultraviolet radiation may contribute to the pathogenesis of this hemangioma since it occurs on sun-exposed sites. There was no recurrence of the lesion following either excision or observation. Conclusions The possibility of acquired elastotic hemangioma should be considered by clinicians when they encounter an older individual with a new red plaque on a sun-exposed site that clinically appears to be a superficial

Family function and its relationship to injury severity and psychiatric outcome in children with acquired brain injury: a systematized review.

PubMed

Lax Pericall, Maria Teresa; Taylor, Eric

2014-01-01

The psychological and psychiatric outcome of children with acquired brain injury is influenced by many variables. A review was undertaken to clarify the contribution of family function, how it relates to injury severity, and what particular aspects of family function influence psychological outcome in this group. A systematized review of the literature of studies published between 1970 and 2012 from OvidMedline, PsychoInfo, PsycARTICLES, and Cochrane was undertaken focusing on family function, injury severity, and psychiatric outcome. Thirty-six papers met the inclusion criteria. Injury severity was linked to the development of organic personality change. Family function before injury, measured by the Family Assessment Device or the Clinical Rating Scale, had a statistically significant effect on general psychological functioning in six out of eight studies. Family function had a significant effect for oppositional defiant disorder and secondary attention-deficit-hyperactivity disorder. The effects of family function may differ depending on the age of the child and the severity of the injury. Some styles of parenting moderated recovery. After injury, family function was related to the child's contemporaneous psychiatric symptoms. The level of evidence for these papers was 3 or 4 (Oxford Centre for Evidence-based Medicine criteria). Screening for some aspects of family functioning before injury and family function during the rehabilitation phase may identify children at risk of psychiatric disorders. © 2013 Mac Keith Press.

A prospective, longitudinal, study of men with borderline personality disorder with and without comorbid antisocial personality disorder.

PubMed

Robitaille, Marie-Pier; Checknita, Dave; Vitaro, Frank; Tremblay, Richard E; Paris, Joel; Hodgins, Sheilagh

2017-01-01

Some evidence suggests that the prevalence of Borderline Personality Disorder (BPD) is elevated among male criminal offenders. It is not presently known whether offending, and violent offending, are limited to those presenting comorbid Antisocial Personality Disorder (ASPD) who have a childhood history of conduct problems and whether offending is linked to psychopathic traits. A community sample of 311 males followed from age 6 to 33 years, one third of whom had a criminal charge between ages 18 and 24, completed diagnostic interviews and the Psychopathy Checklist-Revised interview. Information on childhood included parent-reported family characteristics and teacher-rated of hurtful and uncaring behaviours, conduct problems, hyperactivity and inattention, and anxiety at age 6, 10, and 12 years. Health files were obtained as were records of criminal convictions from age 12 to 33. At age 33, 4% of the men presented BPD and not ASPD, 16% ASPD and not BPD, 8% BPD + ASPD, and 72% neither disorder (ND). Comorbid disorders were common: BPD were distinguished by high levels of anxiety disorders, BPD and BPD + ASPD by depression disorders, and BPD, BPD + ASPD, and ASPD by substance dependence. Official files indicated use of health services by all participants. One-third of participants with BPD and BPD + ASPD acquired a diagnosis of a personality disorder. More than one-third of participants with BPD + ASPD obtained scores indicative of the syndrome of psychopathy. Convictions for violent crimes varied across groups: In adolescence, BPD none, BPD + ASPD 16%, ASPD 16%, and ND 3.6%; from age 18 to 33, BPD 18%, ASPD 19%, BPD + ASPD 52%, and ND 4.4%. Offenders with BPD + ASPD were convicted, on average, for four times more violent crimes than offenders with ASPD and seven times more than ND offenders. In childhood, men with BPD + ASPD and with ASPD had obtained similarly elevated ratings for disruptive behaviours as compared to ND. BPD

Prosopagnosia as a Type of Conversion Disorder.

PubMed

Power, Clodagh; Hannigan, Oisin; Coen, Robert; Bruce, Irene; Gibb, Matthew; McCarthy, Marie; Robinson, David; Lawlor, Brian A

2018-01-01

Conversion disorder is a common and debilitating condition that remains poorly understood. We present a previously undescribed form of conversion disorder to highlight the complexity of the condition and consider the interplay of factors that produce conversion symptoms. A 50-year-old male presented with acquired prosopagnosia and language impairment. Neuropsychological testing indicated right temporal lobe dysfunction. Extensive work-up outruled an organic aetiology. Reactivation of childhood trauma coincided with the onset of his symptoms. Childhood trauma is known to have adverse effects on the developing brain which may affect an individual's emotional behaviour and coping style. Functional neuroimaging techniques suggest that conversion symptoms may be linked to the disruption of higher order neural circuitry involved in the integration of emotional processing and cortical functioning. We propose that our patient's adverse childhood experiences led to the development of a particular personality and coping style that "primed" him for a later abnormal emotional and behavioural response when confronted with reminders of his traumatic background. Further interdisciplinary studies are required to further elucidate the neurobiological basis for this condition.

25 CFR 243.7 - How can a non-Native acquire live reindeer?

Code of Federal Regulations, 2010 CFR

2010-04-01

... 25 Indians 1 2010-04-01 2010-04-01 false How can a non-Native acquire live reindeer? 243.7 Section 243.7 Indians BUREAU OF INDIAN AFFAIRS, DEPARTMENT OF THE INTERIOR FISH AND WILDLIFE REINDEER IN ALASKA § 243.7 How can a non-Native acquire live reindeer? If you are a non-Native who wants to acquire live Alaskan reindeer, you must apply to us in...

Deletion of the long arm of chromosome 20 (del(20)(q11)) in myeloid disorders

DOE Office of Scientific and Technical Information (OSTI.GOV)

Testa, J.R.; Kinnealey, A.; Rowley, J.D.

1978-11-01

Detailed clinical and cytogenetic studies were performed in five patients who had abnormal hematopoiesis and an acquired deletion of an F-group chromosome. Cytogenetic analyses, with banding techniques, of cells from bone marrow, spleen, or unstimulated peripheral blood showed a partial deletion of the long arm of one chromosome 20 (del(20)(q11)) in all five patients. Three patients had myeloproliferative disorders of uncertain classification, the fourth had possible preleukemia, and the fifth had acute myelomonocytic leukemia. Although the five cases showed certain similarities, the clinical and hematologic findings seen with the 20q- abnormality were not specific. None of the patients showed evidencemore » of polycythemia vera or idiopathic acquired refractory sideroblastic anemia, two diseases previously associated with the 20q-. Our studies indicate that the 20q-abnormality is not limited to diseases primarily affecting erythropoiesis but that it can be found in the broader spectrum of myeloid disorders. In polycythemia vera, the 20q- has sometimes been regarded as a possible result of previous therapy with cytotoxic agents; however, four of our patients were untreated when the deletion was first noted.« less

Case report: unicameral bone cysts in a young patient with acquired generalized lipodystrophy.

PubMed

Gregory, James M; Arkader, Alexandre; Bokhari, Aqiba; Bothari, Aqiba; Dormans, John P

2010-05-01

We report the case of a 13-year-old boy with bilateral distal femoral unicameral bone cysts (UBCs) associated with acquired generalized lipodystrophy. As opposed to congenital generalized lipodystrophy, cystic bone lesions in acquired generalized lipodystrophy are rare. After radiographic and histologic confirmation of the UBCs, we performed percutaneous intramedullary decompression, curettage, and grafting. UBCs can be an important manifestation of acquired generalized lipodystrophy. Cystic bone lesions appear to be less common in acquired generalized lipodystrophy than in congenital generalized lipodystrophy, and intramedullary adipose tissue loss may be a predisposing factor for the development of bone lesions in patients with acquired generalized lipodystrophy. When evaluating a patient with lipodystrophy, doctors should recognize the clinical course may include the development of UBCs.

Case Report: Unicameral Bone Cysts in a Young Patient with Acquired Generalized Lipodystrophy

PubMed Central

Gregory, James M.; Arkader, Alexandre; Bothari, Aqiba

2009-01-01

We report the case of a 13-year-old boy with bilateral distal femoral unicameral bone cysts (UBCs) associated with acquired generalized lipodystrophy. As opposed to congenital generalized lipodystrophy, cystic bone lesions in acquired generalized lipodystrophy are rare. After radiographic and histologic confirmation of the UBCs, we performed percutaneous intramedullary decompression, curettage, and grafting. UBCs can be an important manifestation of acquired generalized lipodystrophy. Cystic bone lesions appear to be less common in acquired generalized lipodystrophy than in congenital generalized lipodystrophy, and intramedullary adipose tissue loss may be a predisposing factor for the development of bone lesions in patients with acquired generalized lipodystrophy. When evaluating a patient with lipodystrophy, doctors should recognize the clinical course may include the development of UBCs. PMID:19924491

Disorders of orgasm and ejaculation in men.

PubMed

Rowland, David; McMahon, Chris G; Abdo, Carmita; Chen, Juza; Jannini, Emmanuele; Waldinger, Marcel D; Ahn, Tai Young

2010-04-01

Ejaculatory/orgasmic disorders are common male sexual dysfunctions, and include premature ejaculation (PE), inhibited ejaculation, anejaculation, retrograde ejaculation, and anorgasmia. To provide recommendations and guidelines concerning current state-of-the-art knowledge for management of ejaculation/orgasmic disorders in men. An international consultation in collaboration with the major urology and sexual medicine associations assembled over 200 multidisciplinary experts from 60 countries into 25 committees. Committee members established specific objectives and scopes for various male and female sexual medicine topics. The recommendations concerning state-of-the-art knowledge of disorders of orgasm and ejaculation represent the opinion of seven experts from seven countries developed in a process over a 2-year period. Expert opinion was based on grading of evidence-based medical literature, widespread internal committee discussion, public presentation and debate. Premature ejaculation management is largely dependent upon etiology. Lifelong PE is best managed with PE pharmacotherapy (selective serotonin re-uptake inhibitor [SSRI] and/or topical anesthetics). The management of acquired PE is etiology specific and may include erectile dysfunction (ED) pharmacotherapy in men with comorbid ED. Behavioral therapy is indicated when psychogenic or relationship factors are present and is often best combined with PE pharmacotherapy in an integrated treatment program. Retrograde ejaculation is managed by education, patient reassurance, pharmacotherapy, or bladder neck reconstruction. Delayed ejaculation, anejaculation, and/or anorgasmia may have a biogenic and/or psychogenic atiology. Men with age-related penile hypoanesthesia should be educated, reassured, and instructed in revised sexual techniques which maximize arousal. Additional research is required to further the understanding of the disorders of ejaculation and orgasm.

Sleep-Dependent Consolidation of Rewarded Behavior Is Diminished in Children with Attention Deficit Hyperactivity Disorder and a Comorbid Disorder of Social Behavior

PubMed Central

Wiesner, Christian D.; Molzow, Ina; Prehn-Kristensen, Alexander; Baving, Lioba

2017-01-01

Children suffering from attention-deficit hyperactivity disorder (ADHD) often also display impaired learning and memory. Previous research has documented aberrant reward processing in ADHD as well as impaired sleep-dependent consolidation of declarative memory. We investigated whether sleep also fosters the consolidation of behavior learned by probabilistic reward and whether ADHD patients with a comorbid disorder of social behavior show deficits in this memory domain, too. A group of 17 ADHD patients with comorbid disorders of social behavior aged 8–12 years and healthy controls matched for age, IQ, and handedness took part in the experiment. During the encoding task, children worked on a probabilistic learning task acquiring behavioral preferences for stimuli rewarded most often. After a 12-hr retention interval of either sleep at night or wakefulness during the day, a reversal task was presented where the contingencies were reversed. Consolidation of rewarded behavior is indicated by greater resistance to reversal learning. We found that healthy children consolidate rewarded behavior better during a night of sleep than during a day awake and that the sleep-dependent consolidation of rewarded behavior by trend correlates with non-REM sleep but not with REM sleep. In contrast, children with ADHD and comorbid disorders of social behavior do not show sleep-dependent consolidation of rewarded behavior. Moreover, their consolidation of rewarded behavior does not correlate with sleep. The results indicate that dysfunctional sleep in children suffering from ADHD and disorders of social behavior might be a crucial factor in the consolidation of behavior learned by reward. PMID:28228742

Acinetobacter community-acquired pneumonia in a healthy child.

PubMed

Moreira Silva, G; Morais, L; Marques, L; Senra, V

2012-01-01

Acinetobacter is involved in a variety of infectious diseases primarily associated with healthcare. Recently there has been increasing evidence of the important role these pathogens play in community acquired infections. We report on the case of a previously healthy child, aged 28 months, admitted for fever, cough and pain on the left side of the chest, which on radiographic examination corresponded to a lower lobe necrotizing pneumonia. After detailed diagnostic work-up, community acquired Acinetobacter lwoffii pneumonia was diagnosed. The child had frequently shared respiratory equipment with elderly relatives with chronic obstructive pulmonary disease. As there were no other apparent risk factors, it could be assumed that the sharing of the equipment was the source of infection. The authors wish to draw attention to this possibility, that a necrotising community-acquired pneumonia due to Acinetobacter lwoffii can occur in a previously healthy child and to the dangers of inappropriate use and poor sterilisation of nebulisers. This case is a warning of the dangers that these bacteria may pose in the future in a community setting. Copyright © 2011 Sociedade Portuguesa de Pneumologia. Published by Elsevier España. All rights reserved.

Movement disorders with neuronal antibodies: syndromic approach, genetic parallels and pathophysiology

PubMed Central

Balint, Bettina; Vincent, Angela; Meinck, Hans-Michael; Irani, Sarosh R; Bhatia, Kailash P

2018-01-01

Abstract Movement disorders are a prominent and common feature in many autoantibody-associated neurological diseases, a group of potentially treatable conditions that can mimic infectious, metabolic or neurodegenerative disease. Certain movement disorders are likely to associate with certain autoantibodies; for example, the characteristic dyskinesias, chorea and dystonia associated with NMDAR antibodies, stiff person spectrum disorders with GAD, glycine receptor, amphiphysin or DPPX antibodies, specific paroxysmal dystonias with LGI1 antibodies, and cerebellar ataxia with various anti-neuronal antibodies. There are also less-recognized movement disorder presentations of antibody-related disease, and a considerable overlap between the clinical phenotypes and the associated antibody spectra. In this review, we first describe the antibodies associated with each syndrome, highlight distinctive clinical or radiological ‘red flags’, and suggest a syndromic approach based on the predominant movement disorder presentation, age, and associated features. We then examine the underlying immunopathophysiology, which may guide treatment decisions in these neuroimmunological disorders, and highlight the exceptional interface between neuronal antibodies and neurodegeneration, such as the tauopathy associated with IgLON5 antibodies. Moreover, we elaborate the emerging pathophysiological parallels between genetic movement disorders and immunological conditions, with proteins being either affected by mutations or targeted by autoantibodies. Hereditary hyperekplexia, for example, is caused by mutations of the alpha subunit of the glycine receptor leading to an infantile-onset disorder with exaggerated startle and stiffness, whereas antibodies targeting glycine receptors can induce acquired hyperekplexia. The spectrum of such immunological and genetic analogies also includes cerebellar ataxias and some encephalopathies. Lastly, we discuss how these pathophysiological considerations

Toxoplasmic Encephalitis in Patient with Acquired Immunodeficiency Syndrome.

PubMed

Lee, Sang-Bok; Lee, Tae-Gyu

2017-04-01

Toxoplasmic encephalitis (TE) is an opportunistic infection found in immunocompromised patients and TE related cerebral mass lesion is often reported in acquired immunodeficiency acquired immunodeficiency syndrome (AIDS) patients. However, incidence of TE related AIDS in Korea is still rare and is unfamiliar to neurosurgeons. Differential diagnosis is needed to rule out other brain lesions. A 39-year-old man visited the emergency room with rapid progressive left hemiparesis. Magnetic resonance imaging showed a ring-enhanced mass lesion in his right frontal lobe. Human immunodeficiency virus and Toxoplasma gondii immunoglobulin G were tested positive by a serologic test. We report here a rare case of patient with TE related AIDS.

[Chronologic analysis of clonal evolution in acquired aplastic anemia and sMDS].

PubMed

Yoshizato, Tetsuichi

2016-04-01

Acquired aplastic anemia (AA) is a prototype of idiopathic bone marrow failure, which is caused by immune-mediated destruction of hematopoietic progenitors but is also characterized by frequent evolution to clonal myeloid disorders, such as myelodysplastic syndromes or acute myeloid leukemia. However, the chronological behavior of the clonality and its link to myelodysplastic syndrome or acute myeloid leukemia has not been fully explored. To define the clonality and its chronological behavior in AA, we performed targeted sequencing (N=439) in cases with AA. Somatic mutations were detected in 1/3 of our cases. Mutations were most frequently found in DNMT3A, followed by BCOR, PIGA and ASXL1. The prevalence of mutations increased with age. The clone sizes in DNMT3A and ASXL1 were prone to increase, whereas those of BCOR and PIGA were more likely to decrease or remain stable. Mutations in PIGA, BCOR and BCORL1 correlated with a better response to immunosuppressive therapy and more favorable survival. On the other hand, other mutations were associated with worse outcomes. The chronological dynamics of clonality showed marked variability and were not necessarily associated with prognosis.

Clinical Application of Esophageal High-resolution Manometry in the Diagnosis of Esophageal Motility Disorders.

PubMed

van Hoeij, Froukje B; Bredenoord, Albert J

2016-01-31

Esophageal high-resolution manometry (HRM) is replacing conventional manometry in the clinical evaluation of patients with esophageal symptoms, especially dysphagia. The introduction of HRM gave rise to new objective metrics and recognizable patterns of esophageal motor function, requiring a new classification scheme: the Chicago classification. HRM measurements are more detailed and more easily performed compared to conventional manometry. The visual presentation of acquired data improved the analysis and interpretation of esophageal motor function. This led to a more sensitive, accurate, and objective analysis of esophageal motility. In this review we discuss how HRM changed the way we define and categorize esophageal motility disorders. Moreover, we discuss the clinical applications of HRM for each esophageal motility disorder separately.

Clinical Application of Esophageal High-resolution Manometry in the Diagnosis of Esophageal Motility Disorders

PubMed Central

van Hoeij, Froukje B; Bredenoord, Albert J

2016-01-01

Esophageal high-resolution manometry (HRM) is replacing conventional manometry in the clinical evaluation of patients with esophageal symptoms, especially dysphagia. The introduction of HRM gave rise to new objective metrics and recognizable patterns of esophageal motor function, requiring a new classification scheme: the Chicago classification. HRM measurements are more detailed and more easily performed compared to conventional manometry. The visual presentation of acquired data improved the analysis and interpretation of esophageal motor function. This led to a more sensitive, accurate, and objective analysis of esophageal motility. In this review we discuss how HRM changed the way we define and categorize esophageal motility disorders. Moreover, we discuss the clinical applications of HRM for each esophageal motility disorder separately. PMID:26631942

Origins and consequences of technology acquirement by independent-living seniors: towards an integrative model.

PubMed

Peek, S T M; Luijkx, K G; Vrijhoef, H J M; Nieboer, M E; Aarts, S; van der Voort, C S; Rijnaard, M D; Wouters, E J M

2017-08-22

Living independently can be challenging for seniors. Technologies are expected to help older adults age in place, yet little empirical research is available on how seniors develop a need for technologies, how they acquire these technologies, and how these subsequently affect their lives. Aging is complex, dynamic and personal. But how does this translate to seniors' adoption and acceptance of technology? To better understand origins and consequences of technology acquirement by independent-living seniors, an explorative longitudinal qualitative field study was set up. Home visits were made to 33 community-dwelling seniors living in the Netherlands, on three occasions (2012-2014). Semi-structured interviews were conducted on the timeline of acquirements, and people and factors involved in acquirements. Additionally, participants were interviewed on experiences in using technologies since acquirement. Thematic analysis was employed to analyze interview transcripts, using a realist approach to better understand the contexts, mechanisms and outcomes of technology acquirements. Findings were accumulated in a new conceptual model: The Cycle of Technology Acquirement by Independent-Living Seniors (C-TAILS), which provides an integrative perspective on why and how technologies are acquired, and why these may or may not prove to be appropriate and effective, considering an independent-living senior's needs and circumstances at a given point in time. We found that externally driven and purely desire-driven acquirements led to a higher risk of suboptimal use and low levels of need satisfaction. Technology acquirement by independent-living seniors may be best characterized as a heterogeneous process with many different origins, pathways and consequences. Furthermore, technologies that are acquired in ways that are not congruent with seniors' personal needs and circumstances run a higher risk of proving to be ineffective or inappropriate. Yet, these needs and circumstances are

Low erythrocyte Na/K-pump activity and number in northeast Thailand adults: evidence suggesting an acquired disorder.

PubMed

Tosukhowong, P; Tungsanga, K; Kittinantavorakoon, C; Chaitachawong, C; Pansin, P; Sriboonlue, P; Sitprija, V

1996-07-01

Healthy northeastern Thais have a higher erythrocyte sodium concentration and a lower erythrocyte membrane Na,K-adenosine triphosphatase (ATPase) activity than central Thais. To elucidate whether the defect is hereditary or acquired, we studied plasma sodium and potassium and erythrocyte sodium, potassium, Na,K-ATPase activity, and ouabain-binding sites (OBS) in the following groups: healthy newborns of ethnic central Thais (group 1), healthy newborns of ethnic northeast Thais (group 2), healthy adults of central Thailand ethnicity who lived in the rural central region (group 3) or in Bangkok (group 4), healthy adults of northeast Thailand ethnicity who lived in the rural northeast region (group 5) or who migrated to work in Bangkok for at least 1 year (group 6). Erythrocyte Na was higher in group 2 than in group 1. Group 3 had lower erythrocyte Na,K-ATPase activity than group 4, and it was lower in group 5 than in group 6. Among all groups, group 5 had the highest erythrocyte Na (11.6 mmol/L,F < 0.0001) and the lowest Na,K-ATPase activity (63 mmol Pi/mg x h, F < 0.0001) and erythrocyte OBS (397 sites per cell, F < 0.05) than the other adult groups. There was a positive correlation between erythrocyte Na,K-ATPase and erythrocyte OBS (r = .416, P < .0001). Multiple regression analysis demonstrated a correlation between erythrocyte Na as a dependent variable and erythrocyte OBS, plasma potassium, erythrocyte potassium, and erythrocyte Na,K-ATPase (r = .517, P < .0001). The erythrocyte Na,K-ATPase/OBS ratio, an expression of Na,K-ATPase activity equalized for the number of Na,K-pump units, was lowest among rural adults of the central region (group 3) and the northeast region (group 5) (F < 0.0002). Our data suggest that rural dwellers in Thailand tend to have lower erythrocyte Na,K-ATPase activity than urban dwellers and that this is probably acquired after birth. It was more severe among those from the northeast versus the central region, and was less severe among