Molecular Etiology of Hereditary Single-Side Deafness: Its Association With Pigmentary Disorders and Waardenburg Syndrome.

PubMed

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

2015-10-01

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.

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.

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.

[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.

A case of hypopituitarism accompanying Kearns-Sayre syndrome treated with human chorionic gonadotropin: A case report and literature review.

PubMed

Kang, Y-X; Wang, Y-J; Zhang, Q; Pang, X-H; Gu, W

2017-10-01

Kearns-Sayre syndrome (KSS) is a disorder caused by mutations in mitochondrial DNA. Here, we report an unusual case of Kearns-Sayre syndrome accompanied by hypopituitarism (deficiencies in reproductive and growth hormones). A 20-year-old male presented with growth retardation for the last 8 years, as well as the following findings: short stature, delayed puberty, myasthenia, an extraocular movement deficit, drooping eyelids, pectus carinatum and scoliosis. Cerebral enhanced magnetic resonance imaging revealed dysplasias of the pituitary, white matter and cerebellum. Laboratory work-up showed subnormal testosterone and growth hormone levels, a subnormal testicular volume, sensorineural deafness, pigmentary retinopathy, complete right bundle branch block and left anterior bundle branch block. Pathological examination revealed ragged red muscle fibres. Thus, this rare case involved the coexistence of Kearns-Sayre syndrome and hypopituitarism in a patient. Administration of coenzyme Q10 for the KSS and hormone replacement therapy for the endocrinopathies were performed for treatment of this patient. © 2016 Blackwell Verlag GmbH.

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

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.

Acquired Brachial Cutaneous Dyschromatosis in a Middle Aged Male

PubMed Central

Choi, Min Jung; Byun, Ji Yeon; Choi, Hae Young

2018-01-01

Acquired brachial cutaneous dyschromatosis (ABCD) is an acquired disorder of pigmentary change that presents as chronic, asymptomatic, geographic-shaped, gray-brown patches, consisting of mixed hyper and hypopigmented macules on the dorsal aspect of the forearms. We report a case of a 40-year-old male who presented with asymptomatic, multiple brown-colored macules on the outer aspects of both arms. He had no history of hypertension and had never taken angiotensin converting enzyme inhibitors. He also denied chronic sun exposure history. Histologic examination demonstrated epidermal atrophy, increased basal layer pigmentation, and several telangiectatic vessels in the upper dermis. Solar elastosis was not remarkable. The patient's clinical and histopathologic features were consistent with a diagnosis of ABCD. Poikiloderma of Civatte, melasma, acquired bilateral telangiectatic macules and other pigmentary disorders should be considered in the differential diagnosis of ABCD. Herein, we report a case of ABCD in a middle-aged male without hypertension and medication. PMID:29853750

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.

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.

[Melasma and aspects of pigmentary disorders in Asians].

PubMed

Kang, H Y

2012-11-01

Pigmentary changes in Asians are larger problems and more important features of aging than wrinkles. Melasma is a commonly observed epidermal hypermelanosis of the face in Asians. The altered dermal structures and impaired basement membrane are thought to have an influence on the development of epidermal hyperpigmentation of melasma. Dermal hyperpigmentary diseases are particularly common in Asians. Acquired bilateral melanosis of the neck is a characteristic dermal melanotic condition primarily of the neck in peri-menopausal women. It is characterized by marked accumulation of dermal pigment with perivascular lymphocytic infiltration. The cases seem to represent a continuum of Riehl's melanosis. Subclinical injury or inflammation may play a role as possible causative factors for the development of the pigmentation. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

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.

Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation.

PubMed

Frković, Sanda Huljev; Durisević, Ivana Tonković; Trcić, Ruzica Lasan; Sarnavka, Vladimir; Gornik, Kristina Crkvenac; Muzinić, Dubravka; Letica, Ljiljana; Barić, Ivo; Begović, Davor

2010-03-01

Pallister Killian syndrome (PKS) is a rare genetic disorder caused by tetrasomy of the short arm of chromosome 12, revealed usually in mosaic distribution of an extra i (12) (p10) chromosome in fibroblasts. The syndrome presents with a recognizable pattern of findings including pigmentary skin changes, coarse face, high forehead, sparse anterior scalp hair, hypertelorism, seizures and progressive psychomotor developmental delay. It was first described independently by Pallister in 1977 and by Killian and Teschler-Nikola in 1981. We report a case of 21 month old girl with PKS and significant overgrowth. Cytogenetic analysis was performed using the GTG banding technique. The karyotype of cultured lymphocytes was normal. The karyotype from skin fibroblasts was established as mosaic tetrasomy of 12p 47,XX,+i (12) (p10)/46,XX. The origin of the extra marker chromosome was determinated by fluorescence in situ hybridization with chromosome 12 specific DNA probes confirming that supernumerary marker is chromosome i (12p) in 68% of cells. Despite the excessive postnatal growth we found low serum growth hormone levels and reduced response to pharmacological stimulation test. This is also the first report of a postnatal patient in our country.

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.

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.

Update on pigment dispersion syndrome and pigmentary glaucoma.

PubMed

Okafor, Kingsley; Vinod, Kateki; Gedde, Steven J

2017-03-01

The present article reviews the clinical features and pathogenesis of pigment dispersion syndrome and pigmentary glaucoma and provides an update regarding their diagnosis and management. Newer imaging modalities including ultrasound biomicroscopy and anterior segment optical coherence tomography facilitate visualization of the iris concavity characteristic of eyes with pigment dispersion syndrome and pigmentary glaucoma. Patients with pigmentary glaucoma may be distinguished from those with other glaucoma types by the presence of typical symptoms, personality type, and patterns of diurnal intraocular pressure fluctuation. Although laser iridotomy has been shown to alter iris anatomy in pigmentary glaucoma, it is not proven to slow visual field progression. Multiple trials have validated the safety and efficacy of filtering surgery in treating pigmentary glaucoma, with fewer studies published on the role of micro-invasive glaucoma surgery. Literature from the review period has further defined the unique clinical characteristics of pigment dispersion syndrome and pigmentary glaucoma. Laser surgery has a limited role in the management of these entities, whereas trabeculectomy remains an acceptable first-line surgical treatment. Further studies are needed to define the potential application of the newer micro-invasive glaucoma procedures in pigmentary glaucoma.

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.

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.

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

Equine protozoal myeloencephalitis due to Neospora hughesi and equine motor neuron disease in a mule.

PubMed

Finno, Carrie J; Eaton, Joshua Seth; Aleman, Monica; Hollingsworth, Steven R

2010-07-01

A 23-year-old female mule was presented for bilateral ocular abnormalities and an abnormal pelvic limb gait. Anisocoria, unilateral enophthalmos, medial strabismus, ptosis, pupillary light reflex deficits, and bilateral reticulated pigmentary retinopathy were observed on ophthalmic examination. Neurologic abnormalities included right-sided facial nerve paralysis, extensive symmetric muscle atrophy, and asymmetric pelvic limb ataxia with an abnormal pelvic limb gait. A positive titer (1:40) for equine protozoal myeloencephalitis (EPM) associated with Neospora hughesi was obtained from cerebrospinal fluid with minimal (<1 red blood cell/microL) blood contamination. Muscle biopsies of the sacrocaudalis dorsalis medialis muscle revealed predominantly type I neurogenic muscle atrophy, consistent with a diagnosis of equine motor neuron disease (EMND). Treatment included a 2-month course of ponazuril (5 mg/kg PO q24 h), vitamin E (8000 IU PO q24 h), and selenium (2 mg PO q24 h). Clinical improvement was not observed after 2 months although the mule remained stable. Clinical deterioration was reported upon discontinuation of the ponazuril after a 2-month course. Concurrent disease with EPM associated with N. hughesi and EMND should be considered in cases demonstrating cranial nerve abnormalities, pronounced symmetric muscle atrophy, unusual asymmetric gait abnormalities, and reticulated pigmentary retinopathy.

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

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.

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.

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.

Secondary pigmentary glaucoma in patients with underlying primary pigment dispersion syndrome.

PubMed

Sivaraman, Kavitha R; Patel, Chirag G; Vajaranant, Thasarat S; Aref, Ahmad A

2013-01-01

Primary pigment dispersion syndrome (PPDS) is a bilateral condition that occurs in anatomically predisposed individuals. PPDS may evolve into pigmentary glaucoma, but it is difficult to predict which patients will progress. Secondary pigment dispersion is more often unilateral and acquired as a result of surgery, trauma, or intraocular tumor, but can likewise lead to pigmentary glaucoma. We report two cases of patients with bilateral PPDS who developed secondary pigment dispersion and pigmentary glaucoma in one eye. Patients with PPDS who acquire a secondary mechanism of pigment dispersion may be at an increased risk of progression to pigmentary glaucoma, presumably due to an increased burden of liberated pigment. In addition to regular surveillance for progression to glaucoma from PPDS, secondary causes of pigmentary dispersion in these eyes should be considered when patients present with grossly asymmetric findings. When secondary pigment dispersion is identified in eyes with PPDS, we recommend prompt intervention to alleviate the cause of secondary pigment dispersion and/or aggressive control of intraocular pressure to limit glaucomatous damage.

Secondary pigmentary glaucoma in patients with underlying primary pigment dispersion syndrome

PubMed Central

Sivaraman, Kavitha R; Patel, Chirag G; Vajaranant, Thasarat S; Aref, Ahmad A

2013-01-01

Primary pigment dispersion syndrome (PPDS) is a bilateral condition that occurs in anatomically predisposed individuals. PPDS may evolve into pigmentary glaucoma, but it is difficult to predict which patients will progress. Secondary pigment dispersion is more often unilateral and acquired as a result of surgery, trauma, or intraocular tumor, but can likewise lead to pigmentary glaucoma. We report two cases of patients with bilateral PPDS who developed secondary pigment dispersion and pigmentary glaucoma in one eye. Patients with PPDS who acquire a secondary mechanism of pigment dispersion may be at an increased risk of progression to pigmentary glaucoma, presumably due to an increased burden of liberated pigment. In addition to regular surveillance for progression to glaucoma from PPDS, secondary causes of pigmentary dispersion in these eyes should be considered when patients present with grossly asymmetric findings. When secondary pigment dispersion is identified in eyes with PPDS, we recommend prompt intervention to alleviate the cause of secondary pigment dispersion and/or aggressive control of intraocular pressure to limit glaucomatous damage. PMID:23569351

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...

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.

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

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.

Ocular toxicity and functional vision recovery in a patient treated with hydroxychloroquine.

PubMed

Rodríguez-Hurtado, Francisco Jorge; Sáez-Moreno, José Antonio; Rodríguez-Ferrer, José Manuel

2015-01-01

We report the case of a 64-year-old woman with rheumatoid arthritis and Sjögren's syndrome, treated during 48 months with hydroxychloroquine that was removed after an ophthalmological evaluation showed bilateral vision loss associated with paracentral scotoma in the visual field, fundoscopic macular pigmentary changes, and severely impaired central multifocal electrorretinogram (mfERG). Twelve months after treatment withdrawal, visual acuity and central mfERG had surprisingly improved. This is an unusual case of functional recovery after treatment withdrawal. We consider that central mfERG is a more sensitive test than pattern electrorretinogram in the detection of retinal toxicity and functional vision recovery after hydroxychloroquine treatment cessation. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

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/1B may constitute novel targets for therapy of skin hypopigmentation disorders, especially those worsened with stress. PMID:24586946

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.

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 variation in lizard color patterns. Our results indicate the need to identify the developmental mechanisms responsible for the control of the size, shape, and orientation of nanocrystals, and the superposition of specific chromatophore types. This study opens up new perspectives on Phelsuma lizards as models in evolutionary developmental biology. PMID:24099066

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.

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.

[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.

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.

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)

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.

The Relationship between Clinical Presentation and Unusual Sensory Interests in Autism Spectrum Disorders: A Preliminary Investigation

ERIC Educational Resources Information Center

Zachor, Ditza A.; Ben-Itzchak, Esther

2014-01-01

Unusual responses to sensory stimuli have been described in autism spectrum disorder (ASD).The study examined the frequencies of "unusual sensory interests" and "negative sensory responses" and their relation to functioning in a large ASD population (n = 679). Having "unusual sensory interests" was reported in 70.4%…

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.

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.

Unilateral pigmentary retinopathy--a review of literature and case presentation.

PubMed

Stamate, Alina-Cristina; Burcea, Marian; Zemba, Mihail

2016-01-01

To report a rare case of unilateral pigmentary retinopathy and describe the clinical and visual field characteristics of this particular case. We present the case of a 30-year-old male patient with a gradual loss of the visual field on his left eye (LE) for the past 10 years, with further gradual painless loss of his central visual field in the last year, and no similar symptoms in his right eye. His past medical and ocular history were unremarkable. No family history of acquired or inherited diseases was determined. Based on the history, clinical findings, and visual field examination, the diagnosis of unilateral pigmentary retinopathy was established. Visual acuity and visual field in the left eye (LE) were severely affected, while in the right eye (RE), they were completely normal. In this case, distinct features of pigmentary retinopathy were observed only in one eye, with the fellow eye being unaffected. The diagnosis requires a long follow-up period, visual field and electrophysiological testing to rule out a delayed onset of a bilateral form of pigmentary retinopathy.

A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease.

PubMed

Sznajer, Yves; Coldéa, Cristina; Meire, Françoise; Delpierre, Isabelle; Sekhara, Tayeb; Touraine, Renaud L

2008-04-15

Type 4 Waardenburg syndrome represents a well define entity caused by neural crest derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and peripheral nervous systems) leading, with variable expressivity, to pigmentary anomalies, deafness, mental retardation, peripheral neuropathy, and Hirschsprung disease. Autosomal dominant mode of inheritance is prevalent when Sox10 gene mutation is identified. We report the natural history of a child who presented with synophrys, vivid blue eye, deafness, bilateral complete semicircular canals agenesis with mental retardation, subtle signs for peripheral neuropathy and lack of Hirschsprung disease. SOX10 gene sequencing identified "de novo" splice site mutation (c.698-2A > C). The present phenotype and the genotype findings underline the wide spectrum of SOX10 gene implication in unusual type 4 Waardenburg syndrome patient. Copyright 2008 Wiley-Liss, Inc.

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.

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.

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

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.

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.

Patau syndrome with long survival in a case of unusual mosaic trisomy 13.

PubMed

Fogu, Giuseppina; Maserati, Emanuela; Cambosu, Francesca; Moro, Maria Antonietta; Poddie, Fausto; Soro, Giovanna; Bandiera, Pasquale; Serra, Gigliola; Tusacciu, Gianni; Sanna, Giuseppina; Mazzarello, Vittorio; Montella, Andrea

2008-01-01

We report a 12-year-old patient with Patau syndrome, in whom two cell lines were present from birth, one with total trisomy 13 due to isochromosome (13q), and one with partial trisomy 13. A cytogenetic re-evaluation at 9 years of age brought to light in skin fibroblasts a third cell line, partially monosomic for chromosome 13. The derivatives (13) present in the three cell lines were characterized through fluorescence in situ hybridization (FISH) experiments with suitable probes; the results suggested a sequence of rearrangements which beginning from an isochromosome (13q) could have led to the other two derivatives. We report the clinical data at birth and at the age of 12; at this age pigmentary lesions with phylloid pattern were noted. Cytogenetic findings of the chromosomal analyses on different tissues, including skin fibroblasts from differently pigmented areas, are also reported.

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.

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.

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.

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

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.

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.

Alice in Wonderland Syndrome, Burning Mouth Syndrome, Cold Stimulus Headache, and HaNDL: Narrative Review.

PubMed

Valença, Marcelo M; de Oliveira, Daniella A; Martins, Hugo André de L

2015-10-01

Unusual headache syndromes are not as infrequent in clinical practice as was generally believed. About three fourths of the classified headache disorders found in the ICHD-II can be considered rare. The aim of this narrative review was to perform a literature review of the pathophysiology, clinical presentation, diagnostic criteria, and treatment of the following unusual headache disorders: Alice in Wonderland syndrome, burning mouth syndrome, cold stimulus headache, and the syndrome of transient headache and neurologic deficits with cerebrospinal fluid lymphocytosis. A literature review was performed using PubMed for each of the abovementioned headache disorders. The unusual headache syndromes as a distinct group of disorders are not as infrequent in clinical practice as was generally believed. Some of them, albeit considered as unusual, may occur with relative frequency, such as cold stimulus headache and burning mouth syndrome. © 2015 American Headache Society.

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

THE ORGANOPHOSPHOROUS INSECTICIDE FENTHION DOES NOT AFFECT PHAGOCYTOSIS OF ROD OUTER SEGMENTS BY RETINAL PIGMENT EPITHELIUM CELLS IN CULTURE.

EPA Science Inventory

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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...

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.

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.

Pigment dispersion syndrome: a clinical study.

PubMed Central

Scheie, H G; Cameron, J D

1981-01-01

This study involved a group of 407 patients (799 eyes) with pigment dispersion syndrome gathered from a glaucoma population of 9200 patients. The sex distribution was equal. The majority (65%) of patients were myopic. The incidence of retinal detachment was 6.4%. No patients were black, but 5 were mulatto. Approximately one-quarter of the patients wih pigment dispersion syndrome (31% of the men, 19% of the women) had glaucoma. The average age of onset of glaucoma was 15 years less than in control patients with chronic simple glaucoma. When both eyes were affected by glaucoma, the glaucoma was consistently more severe in the eye with the more heavily pigmented angle. The degree of iris transillumination was found to be of no importance in predicting the presence of glaucoma or the severity of trabecular pigmentation. The pressure in 66% of the eyes with pigmentary glaucoma was controlled medically. A higher percentage of patients with pigmentary glaucoma required surgery than patients in the control group with chronic simple glaucoma. Men with pigmentary glaucoma required surgery at a much earlier age than women with pigmentary glaucoma. PMID:7236571

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 but also for the treatment of the more difficult elevated pigmented lesions.

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.

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

[Normal and abnormal skin color].

PubMed

Ortonne, J-P

2012-11-01

The varieties of normal skin color in humans range from people of "no color" (pale white) to "people of color" (light brown, dark brown, and black). Skin color is a blend resulting from the skin chromophores red (oxyhaemoglobin), blue (deoxygenated haemoglobin), yellow-orange (carotene, an exogenous pigment), and brown (melanin). Melanin, however, is the major component of skin color ; it is the presence or absence of melanin in the melanosomes in melanocytes and melanin in keratinocytes that is responsible for epidermal pigmentation, and the presence of melanin in macrophages or melanocytes in the dermis that is responsible for dermal pigmentation. Two groups of pigmentary disorders are commonly distinguished: the disorders of the quantitative and qualitative distribution of normal pigment and the abnormal presence of exogenous or endogenous pigments in the skin. The first group includes hyperpigmentations, which clinically manifest by darkening of the skin color, and leukodermia, which is characterized by lightening of the skin. Hypermelanosis corresponds to an overload of melanin or an abnormal distribution of melanin in the skin. Depending on the color, melanodermia (brown/black) and ceruloderma (blue/grey) are distinguished. Melanodermia correspond to epidermal hypermelanocytosis (an increased number of melanocytes) or epidermal hypermelanosis (an increase in the quantity of melanin in the epidermis with no modification of the number of melanocytes). Ceruloderma correspond to dermal hypermelanocytosis (abnormal presence in the dermis of cells synthesizing melanins) ; leakage in the dermis of epidermal melanin also exists, a form of dermal hypermelanosis called pigmentary incontinence. Finally, dyschromia can be related to the abnormal presence in the skin of a pigment of exogenous or endogenous origin. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

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.

Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.

PubMed

Abdel-Salam, Ghada M H; Abdel-Hamid, Mohamed S; Hassan, Nihal A; Issa, Mahmoud Y; Effat, Laila; Ismail, Samira; Aglan, Mona S; Zaki, Maha S

2013-08-01

We describe five patients from three different families with microcephalic osteodysplastic primordial dwarfism type I (MOPD I), which was molecularly confirmed by homozygosity for the g.51G >A and g.55G >A mutations in RNU4ATAC, respectively. The patients showed the classical phenotype and demonstrated in addition variable degrees of gyration abnormalities and malformations of the callosal body with an interhemispheric cyst. One patient also showed underdevelopment of the cerebellar vermis. This confirms that cortical malformations should be considered cardinal manifestations of MOPD I. Oculocutaneous albinism, brain hemorrhage and chilblains have been found to be associated with MOPD I. The present study showed lack of retinal pigmentation in three patients of whom two had an unusually fair complexion of hair and skin. One patient was found to have a hematoma in the left thalamus. This may indicate that both pigmentary abnormalities and vascular anomalies may be part of the phenotype of MOPD I as well. Copyright © 2013 Wiley Periodicals, Inc.

[The dermatological indications of laser: beyond cosmetic target.

PubMed

Abosaleh, Marem; Boehncke, Wolf-Henning; Laubach, Hans

2017-01-11

During the last 30 years, the use of lasers in dermatology has gone far beyond the spectrum of aesthetic and cosmetic applications. Techniques are more than simple removal by CO2 Laser. Increasing knowledge, understanding, and experience have helped to effectively treat numerous important skin diseaes by the use of lasers. However, high-quality clinical trials are sparse in this domain. Consequently, so far only the treatment of hemangiomas and warts is a laser indication reimbursed by insurance companies. This article discusses three types of skin diseases where substantial progress has been reported in the scientific literature in 2016, namely pigmentary disorders, vascular diseases, and inflammatory dermatoses.

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.

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

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.

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.

[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.

Past, Present and Future Therapeutics for Cerebellar Ataxias

PubMed Central

Marmolino, D; Manto, M

2010-01-01

Cerebellar ataxias are a group of disabling neurological disorders. Patients exhibit a cerebellar syndrome and can also present with extra-cerebellar deficits, namely pigmentary retinopathy, extrapyramidal movement disorders, pyramidal signs, cortical symptoms (seizures, cognitive impairment/behavioural symptoms), and peripheral neuropathy. Recently, deficits in cognitive operations have been unraveled. Cerebellar ataxias are heterogeneous both at the phenotypic and genotypic point of view. Therapeutical trials performed during these last 4 decades have failed in most cases, in particular because drugs were not targeting a deleterious pathway, but were given to counteract putative defects in neurotransmission. The identification of the causative mutations of many hereditary ataxias, the development of relevant animal models and the recent identifications of the molecular mechanisms underlying ataxias are impacting on the development of new drugs. We provide an overview of the pharmacological treatments currently used in the clinical practice and we discuss the drugs under development. PMID:20808545

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.

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.

Acquired retinal pigmentary degeneration in a child with 13q deletion syndrome.

PubMed

Aguilera, Zenia P; Belin, Peter J; Cavuoto, Kara M; Jayakar, Parul; McKeown, Craig A

2015-10-01

Orbeli syndrome, or 13q deletion syndrome, is a rare condition caused by a distal deletion in the long arm of chromosome 13. The syndrome is characterized by severe physical malformations and developmental delays and has been associated with numerous ocular manifestations. We report the case of a 10-year-old boy with 13q deletion syndrome, who was evaluated for impaired vision and found to have bilateral retinal pigmentary changes resembling those seen in retinitis pigmentosa. There has only been one other case of retinal pigment variation in association with 13q deletion syndrome; however, this represents the first case of bilateral symmetric retinal pigmentary changes with corresponding rod and cone dysfunction on electroretinography. Copyright © 2015 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

Quality of life in pediatric patients before and after cosmetic camouflage of visible skin conditions.

PubMed

Ramien, Michele L; Ondrejchak, Sandra; Gendron, Roxanne; Hatami, Afshin; McCuaig, Catherine C; Powell, Julie; Marcoux, Danielle

2014-11-01

Visible vascular and pigmentary conditions have a negative impact on children's and adolescents' quality of life (QoL). We sought to quantitate the effect of visible skin anomalies and their camouflage on QoL. In all, 41 patients, 5 years of age and older, were taught to use cosmetic camouflage. QoL was assessed using the Children's Dermatology Life Quality Index (CDLQI) before and 6 months after the intervention. Satisfaction and use were evaluated after 1 and 6 months. Baseline QoL scores revealed a small impact of vascular anomalies (CDLQI score 4.2) and a small to moderate effect of pigmentary anomalies (CDLQI score 6.1). Six months after the intervention, QoL improved in the study population as a whole (CDLQI score 5.1 vs 2.1, P<.001), with significant improvements documented for facial lesions and vascular malformations. Cosmetic camouflage was well tolerated and patients with pigmentary anomalies were more likely to continue using the products. Limitations include small study population, few male patients, cultural influences not addressed, and limited range of conditions. Children and teenagers with visible vascular and pigmentary anomalies experience an impairment of QoL that is abrogated by introduction to use of cosmetic camouflage. Copyright © 2014 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea.

PubMed

Jang, Mi-Ae; Lee, Taeheon; Lee, Junnam; Cho, Eun-Hae; Ki, Chang-Seok

2015-05-01

Waardenburg syndrome (WS) is a clinically and genetically heterogeneous hereditary auditory pigmentary disorder characterized by congenital sensorineural hearing loss and iris discoloration. Many genes have been linked to WS, including PAX3, MITF, SNAI2, EDNRB, EDN3, and SOX10, and many additional genes have been associated with disorders with phenotypic overlap with WS. To screen all possible genes associated with WS and congenital deafness simultaneously, we performed diagnostic exome sequencing (DES) in a male patient with clinical features consistent with WS. Using DES, we identified a novel missense variant (c.220C>G; p.Arg74Gly) in exon 2 of the PAX3 gene in the patient. Further analysis by Sanger sequencing of the patient and his parents revealed a de novo occurrence of the variant. Our findings show that DES can be a useful tool for the identification of pathogenic gene variants in WS patients and for differentiation between WS and similar disorders. To the best of our knowledge, this is the first report of genetically confirmed WS in Korea.

Long-term follow-up for efficacy and safety of treatment of retinitis pigmentosa with valproic acid.

PubMed

Bhalla, Sheena; Joshi, Deval; Bhullar, Shaminder; Kasuga, Daniel; Park, Yeonhee; Kay, Christine N

2013-07-01

The purpose of this study was to determine the long-term efficacy and safety of valproic acid (VPA) treatment in patients with pigmentary retinal dystrophies. A retrospective chart review was conducted on 31 patients with a diagnosis of pigmentary retinal dystrophy prescribed VPA at a single centre. Visual field (VF), visual acuity (VA), length of treatment, liver enzymes and side effects were analysed. VF areas were defined using Goldmann VF (GVF) tracings recorded before, during and after VPA treatment using the V4e isopter for each eye. Using custom software, planimetric areas of VF were calculated. Five of the patients (10 eyes) had two Goldmann VF tracings, allowing comparison between baseline and follow-up VF. After 9.8 months of VPA, VF decreased by 0.145 cm(2) (26.478%) (p=0.432). For 22 of the patients (41 eyes), VA data was available, and logarithm of the minimum angle of resolution (logMAR) score changed by 0.056 log units (representing a decline in VA) after 14.9 months on VPA (p=0.002). Twelve patients (38.7%) reported negative side effects related to VPA use. VPA plays a complex role in patients with pigmentary retinal dystrophies and may be associated with VA and field decline as well as adverse side effects. Physicians should use caution with using VPA for pigmentary retinal dystrophies.

The phenomenon of claimed memories of previous lives: possible interpretations and importance.

PubMed

Stevenson, I

2000-04-01

Several disorders or abnormalities observed in medicine and psychology are not explicable (or not fully explicable) by genetics and environmental influences, either alone or together. These include phobias and philias observed in early infancy, unusual play in childhood, homosexuality, gender identity disorder, a child's idea of having parents other than its own, differences in temperament manifested soon after birth, unusual birthmarks and their correspondence with wounds on a deceased person, unusual birth defects, and differences (physical and behavioral) between monozygotic twins. The hypothesis of previous lives can contribute to the further understanding of these phenomena. Copyright 2000 Harcourt Publishers Ltd.

Childhood and Current Autistic Features in Adolescents with Schizotypal Personality Disorder

PubMed Central

Esterberg, Michelle L.; Trotman, Hanan D.; Brasfield, Joy L.; Compton, Michael T.; Walker, Elaine F.

2008-01-01

The diagnostic boundaries between autistic- and schizophrenia-spectrum disorders have varied over the years, and some overlap in diagnostic criteria persists. The present study examined childhood and current signs of autistic disorder (AD) in adolescents with schizotypal personality disorder (SPD) or other personality disorders, as well as healthy controls. A structured interview was administered to rate participants’ current symptoms. Participants’ guardians were interviewed with the Autism Diagnostic Inventory-Revised (ADI-R), a clinical assessment of childhood and current autistic signs. Compared to both the other personality-disordered and healthy groups, adolescents with SPD were rated as having significantly more impairment on childhood and current social functioning, and having more unusual interests and behaviors. For the entire sample, impaired childhood social functioning and unusual interests and behaviors were associated with higher negative symptom scores. Current impairments in social functioning, unusual interests and behaviors, and communication were also linked with greater negative symptoms. However, neither childhood nor current autistic features significantly predicted later conversion to an Axis I psychotic disorder over the course of three years of follow-up. The findings indicate that past and current autistic signs are more common in adolescents with SPD, but neither current nor childhood autistic features are linked with conversion to psychosis. PMID:18554872

Increased Prevalence of Unusual Sensory Behaviors in Infants at Risk For, and Teens With, Autism Spectrum Disorder

ERIC Educational Resources Information Center

Van Etten, Hannah M.; Kaur, Maninderjit; Srinivasan, Sudha M.; Cohen, Shereen J.; Bhat, Anjana; Dobkins, Karen R.

2017-01-01

The current study investigated the prevalence and pattern of unusual sensory behaviors (USBs) in teens with Autism Spectrum Disorder (ASD) and infants (3-36 months) at risk for ASD. From two different sites (UCSD and UConn), caregivers of infants at high (n = 32) and low risk (n = 33) for ASD, and teenagers with (n = 12) and without ASD (n = 11),…

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.

Zinc Therapy in Dermatology: A Review

PubMed Central

Mahajan, Vikram K.; Mehta, Karaninder S.; Chauhan, Pushpinder S.

2014-01-01

Zinc, both in elemental or in its salt forms, has been used as a therapeutic modality for centuries. Topical preparations like zinc oxide, calamine, or zinc pyrithione have been in use as photoprotecting, soothing agents or as active ingredient of antidandruff shampoos. Its use has expanded manifold over the years for a number of dermatological conditions including infections (leishmaniasis, warts), inflammatory dermatoses (acne vulgaris, rosacea), pigmentary disorders (melasma), and neoplasias (basal cell carcinoma). Although the role of oral zinc is well-established in human zinc deficiency syndromes including acrodermatitis enteropathica, it is only in recent years that importance of zinc as a micronutrient essential for infant growth and development has been recognized. The paper reviews various dermatological uses of zinc. PMID:25120566

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

A review of melasma treatment focusing on laser and light devices.

PubMed

Li, Janet Y; Geddes, Elizabeth Rc; Robinson, Deanne M; Friedman, Paul M

2016-12-01

Melasma is a pigmentary disorder of unclear etiology with numerous treatment options and high recurrence rates. Laser and light therapies may be utilized cautiously as second- or third-line options for recalcitrant melasma, but low-energy settings are preferred due to the risk of postinflammatory hyperpigmentation and melasma stimulation. Commonly used lasers include the low-fluence 1064-nm Q-switched neodymium-doped yttrium aluminum garnet laser, nonablative fractionated lasers, and intense pulsed light. Strict sun protection, concomitant use of bleaching agents, and maintenance treatments are necessary. A variety of other treatments that may also help to improve results are now being more widely adopted, including oral tranexamic acid, pulsed dye laser, antioxidants, and laser-assisted drug delivery. ©2016 Frontline Medical Communications.

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.

Usher syndrome in four siblings from a consanguineous family of Pakistani origin.

PubMed

Trop, I; Schloss, M D; Polomeno, R; Der Kaloustian, V

1995-04-01

Usher syndrome is a heterogeneous group of disorders of autosomal recessive inheritance characterized by retinitis pigmentosa and congenital sensorineural hearing loss. Two types are accepted clinically: type I is associated with profound congenital deafness with progressive pigmentary retinopathy and total loss of vestibular function. Type II is a milder form, with moderate-to-profound hearing loss and a milder form of retinitis pigmentosa. Vestibular function is preserved. A total of five loci have been identified as accounting for the two distinct phenotypic presentations. We describe a consanguineous family of Pakistani origin whose four children all are affected with Usher syndrome type I. DNA analysis showed non-linkage to any of the loci already identified as tightly linked to the Usher syndrome type I.

Cockayne syndrome: Clinical features, model systems and pathways

PubMed Central

Karikkineth, Ajoy C.; Scheibye-Knudsen, Morten; Fivenson, Elayne; Croteau, Deborah L.; Bohr, Vilhelm A.

2016-01-01

Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average. It is an autosomal recessive disorder, with a prevalence of approximately 2.5 per million. There are several phenotypes (1, 2 and 3) and complementation groups (CSA and CSB), and overlaps with xeroderma pigmentosum (XP). It has been considered a progeria, and many of the clinical features resemble accelerated aging. As such, the study of CS affords an opportunity to better understand the underlying mechanisms of aging. The molecular basis of CS has traditionally been considered to be due to defects in transcription and transcription-coupled nucleotide excision repair (TC-NER). However, recent work suggests that defects in base excision DNA repair and mitochondrial functions may also play key roles. This opens up the possibility of molecular interventions in CS, and by extrapolation, possibly in aging. PMID:27507608

An unusual cause of stridor in a neonate.

PubMed

Fah, K K; Tan, H K

1994-01-01

We report an unusual case of unilateral vocal fold palsy due to intracranial haemorrhage in a neonate with undiagnosed haemophilia A. Bleeding disorders in neonates are briefly discussed and the importance of a systemic investigation of stridor in children is emphasized.

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.

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

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.

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, extracted data, and assessed included trials for risk of bias. We did not perform a meta-analysis because of variability in reporting and follow-up intervals for primary and secondary outcomes of interest. Main results We included five RCTs (260 eyes of 195 participants) comparing yttrium-aluminum-garnet (YAG) laser iridotomy versus no laser iridotomy. Three trials included participants with pigmentary glaucoma at baseline, and two trials enrolled participants with pigment dispersion syndrome. Only two trials reported the country of enrollment: one - Italy, the other - United Kingdom. Overall, we assessed trials as having high or unclear risk of bias owing to incomplete or missing data and selective outcome reporting. Data on visual fields were available for one of three trials that included participants with pigmentary glaucoma at baseline. At an average follow-up of 28 months, the risk of progression of visual field damage was uncertain when comparing laser iridotomy with no iridotomy (risk ratio (RR) 1.00, 95% confidence interval (95% CI) 0.16 to 6.25; 32 eyes; very low-quality evidence). The two trials that enrolled participants with pigment dispersion syndrome at baseline reported the proportion of participants with onset of glaucomatous visual field changes during the study period. At three-year follow-up, one trial reported that the risk ratio for conversion to glaucoma was 2.72 (95% CI 0.76 to 9.68; 42 eyes; very low-quality evidence). At 10-year follow-up, the other trial reported that no eye showed visual field progression. One trial reported the mean change in intraocular pressure (IOP) in eyes with pigmentary glaucoma: At an average of nine months of follow-up, the mean difference in IOP between groups was 2.69 mmHg less in the laser iridotomy group than in the control group (95% CI −6.05 to 0.67; 14 eyes; very low-quality evidence). This trial also reported the mean change in anterior chamber depth at an average of nine months of follow-up and reported no meaningful differences between groups (mean difference 0.04 mm, 95% CI −0.07 to 0.15; 14 eyes; very low-quality evidence). No other trial reported mean change in anterior chamber depth. Two trials reported greater flattening of iris configuration in the laser iridotomy group than in the control group among eyes with pigmentary glaucoma; however, investigators provided insufficient data for analysis. No trial reported data related to mean visual acuity, aqueous melanin granules, costs, or quality of life outcomes. Two trials assessed the need for additional treatment for control of IOP. One trial that enrolled participants with pigmentary glaucoma reported that more eyes in the laser iridotomy group required additional treatment between six and 23 months of follow-up than eyes in the control group (RR 1.73, 95% CI 1.08 to 2.75; 46 eyes); however, the other trial enrolled participants with pigment dispersion syndrome and indicated that the difference between groups at three-year follow-up was uncertain (RR 0.91, 95% CI 0.38 to 2.17; 105 eyes). We graded the certainty of evidence for this outcome as very low. Two trials reported that no serious adverse events were observed in either group among eyes with pigment dispersion syndrome. Mild adverse events included postoperative inflammation; two participants required cataract surgery (at 18 and 34 months after baseline), and two participants required a repeat iridotomy. Authors' conclusions We found insufficient evidence of high quality on the effectiveness of peripheral iridotomy for pigmentary glaucoma or pigment dispersion syndrome. Although adverse events associated with peripheral iridotomy may be minimal, the long-term effects on visual function and other patient-important outcomes have not been established. Future research on this topic should focus on outcomes that are important to patients and the optimal timing of treatment in the disease process (eg, pigment dispersion syndrome with normal IOP, pigment dispersion syndrome with established ocular hypertension, pigmentary glaucoma). PMID:26871761

Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea

PubMed Central

Jang, Mi-Ae; Lee, Taeheon; Lee, Junnam

2015-01-01

Waardenburg syndrome (WS) is a clinically and genetically heterogeneous hereditary auditory pigmentary disorder characterized by congenital sensorineural hearing loss and iris discoloration. Many genes have been linked to WS, including PAX3, MITF, SNAI2, EDNRB, EDN3, and SOX10, and many additional genes have been associated with disorders with phenotypic overlap with WS. To screen all possible genes associated with WS and congenital deafness simultaneously, we performed diagnostic exome sequencing (DES) in a male patient with clinical features consistent with WS. Using DES, we identified a novel missense variant (c.220C>G; p.Arg74Gly) in exon 2 of the PAX3 gene in the patient. Further analysis by Sanger sequencing of the patient and his parents revealed a de novo occurrence of the variant. Our findings show that DES can be a useful tool for the identification of pathogenic gene variants in WS patients and for differentiation between WS and similar disorders. To the best of our knowledge, this is the first report of genetically confirmed WS in Korea. PMID:25932447

Is schizoaffective disorder a distinct categorical diagnosis? A critical review of the literature

PubMed Central

Abrams, Daniel J; Rojas, Donald C; Arciniegas, David B

2008-01-01

Considerable debate surrounds the inclusion of schizoaffective disorder in psychiatric nosology. Schizoaffective disorder may be a variant of schizophrenia in which mood symptoms are unusually prominent but not unusual in type. This condition may instead reflect a severe form of either major depressive or bipolar disorder in which episode-related psychotic symptoms fail to remit completely between mood episodes. Alternatively, schizoaffective disorder may reflect the co-occurrence of two relatively common psychiatric illnesses, schizophrenia and a mood disorder (major depressive or bipolar disorder). Each of these formulations of schizoaffective disorder presents nosological challenges because the signs and symptoms of this condition cross conventional categorical diagnostic boundaries between psychotic disorders and mood disorders. The study, evaluation, and treatment of persons presently diagnosed with schizoaffective may be more usefully informed by a dimensional approach. It is in this context that this article reviews and contrasts the categorical and dimensional approaches to its description, neurobiology, and treatment. Based on this review, an argument for the study and treatment of this condition using a dimensional approach is offered. PMID:19337453

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.

Presumed topiramate retinopathy: a case report.

PubMed

Yeung, Tiffany L M; Li, Patrick S H; Li, Kenneth K W

2016-08-01

We report a case of peripheral pigmentary retinopathy and visual field loss following topiramate use for uncontrolled seizures. Such side effects have not been well documented despite the increasing use of topiramate in the past 10 years. A thorough search of available English literature revealed only a small number of reports of topiramate-induced retinopathy or visual field defects in humans. One similar case has been described. We are concerned about the possible rare instances of this occurrence in future patients and hence would like to propose a presumed correlation. A 48-year-old Chinese woman developed blurred vision after 9 months of topiramate use. Her visual acuity dropped from 1.2 to 0.7 in both eyes, with bilateral diffuse pigmentary retinopathy and a constricted visual field. Despite an improvement in visual acuity after cessation of the drug, the other clinical findings remained. The temporal relationship between the initiation of topiramate and the visual disturbance suggests that topiramate could be the cause of such signs and symptoms. Topiramate potentially causes pigmentary retinopathy and constricted visual field.

Bipolar Disorder.

ERIC Educational Resources Information Center

Spearing, Melissa

Bipolar disorder, a brain disorder that causes unusual shifts in a person's mood, affects approximately one percent of the population. It commonly occurs in late adolescence and is often unrecognized. The diagnosis of bipolar disorder is made on the basis of symptoms, course of illness, and when possible, family history. Thoughts of suicide are…

Mosaic Neurofibromatosis Type 1 in Children: A Single-Institution Experience.

PubMed

Lara-Corrales, Irene; Moazzami, Mitra; García-Romero, Maria Teresa; Pope, Elena; Parkin, Patricia; Shugar, Andrea; Kannu, Peter

Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by loss-of-function mutation in the NF1 gene. Segmental or mosaic NF1 (MNF) is an uncommon presentation of the NF1 result of postzygotic mutations that present with subtle localised clinical findings. Our study's objectives were to describe the clinical characteristics of children with MNF. We conducted a cross-sectional study of children diagnosed with MNF at the Hospital for Sick Children in Toronto, Canada, from January 1992 to September 2012. Data were abstracted from health records and analysed using a standardised data collection form approved by our hospital Research Ethics Board. We identified 60 patients with MNF; 32 of 60 (53.3%) were female. Mean ± SD age at first assessment was 10.6 ± 4.6 years. The most common initial physical manifestation in 39 of 60 (65.0%) patients was localised pigmentary changes only, followed by plexiform neurofibromas only in 10 of 60 (16.7%) and neurofibromas only in 9 of 60 (15.0%). Unilateral findings were seen in 46 of 60 (76.7%) patients. Most common associations identified included learning disabilities (7/60; 12%) and bony abnormalities (6/60; 10.0%). MNF is an underrecognised condition with potential implications for patients. Children mostly present with pigmentary anomalies only. Most patients do not develop associated findings or complications before adulthood, but long-term follow-up will help determine outcomes and possible associations. Recognition and confirmation of the diagnosis is important to provide follow-up and genetic counselling to patients.

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.

Waardenburg syndrome type 2: an orthodontic perspective.

PubMed

Şuhani, Raluca Diana; Şuhani, Mihai Flaviu; Muntean, Alexandrina; Mesaroş, Michaela Florica; Badea, Mîndra Eugenia

2015-01-01

Waardenburg syndrome is a rare form of neurocristopathy. It is a disorder in the development of neural crest cells, caused by an altered cellular migration during the embryonic phase. That alteration causes an association of different abnormalities such as pigmentary disturbances of the hair, iris, skin, stria vascularis of the cochlea, dystopia canthorum and sensorineural hearing loss. We report a case of a 14-year-old Romanian male, with a family history of Waardenburg syndrome (mother) and Usher syndrome (father - congenitally sensorineural hearing loss and retinal degeneration). The case particularities are: the correlation between malocclusion and Waardenburg syndrome due to hypoplastic alae nasi and also factors that produced hearing loss, which could be Waardenburg syndrome, Usher syndrome or the presence of the connexin 26 (W24X) gene mutation.

A nationwide, cross-sectional survey on unusual sleep postures and sleep-disordered breathing-related symptoms in people with Down syndrome.

PubMed

Kuroda, H; Sawatari, H; Ando, S; Ohkusa, T; Rahmawati, A; Ono, J; Nishizaka, M; Hashiguchi, N; Matsuoka, F; Chishaki, A

2017-07-01

People with Down syndrome (DS) often have sleep-disordered breathing (SDB). Unusual sleep postures, such as leaning forward and sitting, are observed in people with DS. This study aimed to clarify the prevalence of unusual sleep postures and their relationships with SDB-related symptoms (SDB-RSs), such as snoring, witnessed apnoea, nocturnal awakening and excessive daytime sleepiness. A questionnaire, including demographic characteristics and the presence of unusual sleep postures, as well as SDB-RSs, was completed by 1149 parents of people with DS from Japan. Unusual sleep postures were recorded in 483 (42.0%) people with DS. These participants were significantly younger and had a history of low muscle tone more frequently than people without unusual sleep postures. In all ages, the leaning forward posture was more frequent than sitting. People with DS with unusual sleep postures suffered from SDB-RSs. Those who slept in the sitting posture had more frequent SDB-RSs than did those who slept with the leaning forward posture. Snoring, witnessed apnoea and nocturnal awakening were observed in 73.6, 27.2 and 58.2% of participants, respectively. Snoring increased with aging. Witnessed apnoea was more common in males and in those with hypothyroidism than in females and in those without hypothyroidism. Our study shows that there is a close relationship between unusual sleep postures and SDB-RSs. We recommend that all people with DS with unusual sleep postures should be checked for the presence of SDB. © 2017 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

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

Unusual Thermoelectric Behavior Indicating a Hopping to Bandlike Transport Transition in Pentacene

NASA Astrophysics Data System (ADS)

Germs, W. Chr.; Guo, K.; Janssen, R. A. J.; Kemerink, M.

2012-07-01

An unusual increase in the Seebeck coefficient with increasing charge carrier density is observed in pentacene thin film transistors. This behavior is interpreted as being due to a transition from hopping transport in static localized states to bandlike transport, occurring at temperatures below ˜250K. Such a transition can be expected for organic materials in which both static energetic disorder and dynamic positional disorder are important. While clearly visible in the temperature and density dependent Seebeck coefficient, the transition hardly shows up in the charge carrier mobility.

Eating Disorders among College Women.

ERIC Educational Resources Information Center

Basow, Susan A.; Schneck, Renae

In the past 10 years, eating disorders among adolescent females have become of increasing concern. To assess the prevalence of eating disorders, unusual eating-related behaviors and attitudes, and psychological states among college women, 677 women, from three private northeastern United States colleges, completed a questionnaire assessing…

Out and Down: Incarceration and Psychiatric Disorders

ERIC Educational Resources Information Center

Schnittker, Jason; Massoglia, Michael; Uggen, Christopher

2012-01-01

Psychiatric disorders are unusually prevalent among current and former inmates, but it is not known what this relationship reflects. A putative causal relationship is contaminated by assorted influences, including childhood disadvantage, the early onset of most disorders, and the criminalization of substance use. Using the National Comorbidity…

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.

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.

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.

Weakly-coupled quasi-1D helical modes in disordered 3D topological insulator quantum wires

NASA Astrophysics Data System (ADS)

Dufouleur, J.; Veyrat, L.; Dassonneville, B.; Xypakis, E.; Bardarson, J. H.; Nowka, C.; Hampel, S.; Schumann, J.; Eichler, B.; Schmidt, O. G.; Büchner, B.; Giraud, R.

2017-04-01

Disorder remains a key limitation in the search for robust signatures of topological superconductivity in condensed matter. Whereas clean semiconducting quantum wires gave promising results discussed in terms of Majorana bound states, disorder makes the interpretation more complex. Quantum wires of 3D topological insulators offer a serious alternative due to their perfectly-transmitted mode. An important aspect to consider is the mixing of quasi-1D surface modes due to the strong degree of disorder typical for such materials. Here, we reveal that the energy broadening γ of such modes is much smaller than their energy spacing Δ, an unusual result for highly-disordered mesoscopic nanostructures. This is evidenced by non-universal conductance fluctuations in highly-doped and disordered Bi2Se3 and Bi2Te3 nanowires. Theory shows that such a unique behavior is specific to spin-helical Dirac fermions with strong quantum confinement, which retain ballistic properties over an unusually large energy scale due to their spin texture. Our result confirms their potential to investigate topological superconductivity without ambiguity despite strong disorder.

Weakly-coupled quasi-1D helical modes in disordered 3D topological insulator quantum wires

PubMed Central

Dufouleur, J.; Veyrat, L.; Dassonneville, B.; Xypakis, E.; Bardarson, J. H.; Nowka, C.; Hampel, S.; Schumann, J.; Eichler, B.; Schmidt, O. G.; Büchner, B.; Giraud, R.

2017-01-01

Disorder remains a key limitation in the search for robust signatures of topological superconductivity in condensed matter. Whereas clean semiconducting quantum wires gave promising results discussed in terms of Majorana bound states, disorder makes the interpretation more complex. Quantum wires of 3D topological insulators offer a serious alternative due to their perfectly-transmitted mode. An important aspect to consider is the mixing of quasi-1D surface modes due to the strong degree of disorder typical for such materials. Here, we reveal that the energy broadening γ of such modes is much smaller than their energy spacing Δ, an unusual result for highly-disordered mesoscopic nanostructures. This is evidenced by non-universal conductance fluctuations in highly-doped and disordered Bi2Se3 and Bi2Te3 nanowires. Theory shows that such a unique behavior is specific to spin-helical Dirac fermions with strong quantum confinement, which retain ballistic properties over an unusually large energy scale due to their spin texture. Our result confirms their potential to investigate topological superconductivity without ambiguity despite strong disorder. PMID:28374744

Weakly-coupled quasi-1D helical modes in disordered 3D topological insulator quantum wires.

PubMed

Dufouleur, J; Veyrat, L; Dassonneville, B; Xypakis, E; Bardarson, J H; Nowka, C; Hampel, S; Schumann, J; Eichler, B; Schmidt, O G; Büchner, B; Giraud, R

2017-04-04

Disorder remains a key limitation in the search for robust signatures of topological superconductivity in condensed matter. Whereas clean semiconducting quantum wires gave promising results discussed in terms of Majorana bound states, disorder makes the interpretation more complex. Quantum wires of 3D topological insulators offer a serious alternative due to their perfectly-transmitted mode. An important aspect to consider is the mixing of quasi-1D surface modes due to the strong degree of disorder typical for such materials. Here, we reveal that the energy broadening γ of such modes is much smaller than their energy spacing Δ, an unusual result for highly-disordered mesoscopic nanostructures. This is evidenced by non-universal conductance fluctuations in highly-doped and disordered Bi2Se3 and Bi 2 Te 3 nanowires. Theory shows that such a unique behavior is specific to spin-helical Dirac fermions with strong quantum confinement, which retain ballistic properties over an unusually large energy scale due to their spin texture. Our result confirms their potential to investigate topological superconductivity without ambiguity despite strong disorder.

[Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].

PubMed

Otręba, Michał; Miliński, Maciej; Buszman, Ewa; Wrześniok, Dorota; Beberok, Artur

2013-11-26

Hypo- and hyperpigmentation disorders are the most severe dermatological diseases observed in patients from all over the world. These disorders can be divided into melanoses connected with disorders of melanocyte function and melanocytoses connected with melanocyte development. The article presents some hereditary hypomelanocytoses, which are caused by abnormal melanoblast development, migration and proliferation as well as by abnormal melanocyte viability and proliferation. These disorders are represented by Waardenburg syndrome, piebaldism and Tietz syndrome, and are caused by different mutations of various or the same genes. The types of mutations comprise missense and nonsense mutations, frameshifts (in-frame insertions or deletions), truncating variations, splice alterations and non-stop mutations. It has been demonstrated that mutations of the same gene may cause different hypopigmentation syndromes that may have similar phenotypes. For example, mutations of the MITF gene cause Waardenburg syndrome type 2A as well as Tietz syndrome. It has also been demonstrated that mutations of different genes may cause an identical syndrome. For example, mutations of MITF, SNAI2 and SOX10 genes are observed in Waardenburg syndrome type II and mutations of EDNRB, EDN3 and SOX10 genes are responsible for Waardenburg syndrome type IV. In turn, mutation of the KIT gene and/or heterozygous deletion of the SNAI2 gene result in piebaldism disease. The knowledge of the exact mechanisms of pigmentary disorders may be useful in the development of new therapeutic approaches to their treatment.

Three cases of Waardenburg syndrome type 2 in a Korean family.

PubMed

Choi, Joong Hyuk; Moon, Sung-Kyun; Lee, Ki Hwang; Lew, Ho Min; Chang, Yoon-Hee

2004-12-01

Waardenburg syndrome (WS) is a rare, autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary disturbances of the skin, hair, and iris, and other developmental defects such as lateral displacement of both medial canthi and lacrimal puncta called dystopia canthorum. While mutations of the PAX3 (paired box) gene have been identified in about 99% of WS type 1 cases, WS type 2 is a heterogeneous group, with about 15% of cases caused by mutations in microphthalmia associated transcription factor (MITF). We have experienced three cases of typical WS type 2 in a Korean family, for whom full ocular examination and genetic studies were performed. The genetic studies revealed no mutation in either PAX3 or MITF genes. The genetic basis, as yet unknown for most cases of WS type 2, might be found with further investigation.

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

Unusual social behavior in HPC-1/syntaxin1A knockout mice is caused by disruption of the oxytocinergic neural system.

PubMed

Fujiwara, Tomonori; Sanada, Masumi; Kofuji, Takefumi; Akagawa, Kimio

2016-07-01

HPC-1/syntaxin1A (STX1A), a neuronal soluble N-ethylmaleimide-sensitive fusion attachment protein receptor, contributes to neural function in the CNS by regulating transmitter release. Recent studies reported that STX1A is associated with human neuropsychological disorders, such as autism spectrum disorder and attention deficit hyperactivity disorder. Previously, we showed that STX1A null mutant mice (STX1A KO) exhibit neuropsychological abnormalities, such as fear memory deficits, attenuation of latent inhibition, and unusual social behavior. These observations suggested that STX1A may be involved in the neuropsychological basis of these abnormalities. Here, to study the neural basis of social behavior, we analyzed the profile of unusual social behavior in STX1A KO with a social novelty preference test, which is a useful method for quantification of social behavior. Interestingly, the unusual social behavior in STX1A KO was partially rescued by intracerebroventricular administration of oxytocin (OXT). In vivo microdialysis studies revealed that the extracellular OXT concentration in the CNS of STX1A KO was significantly lower compared with wild-type mice. Furthermore, dopamine-induced OXT release was reduced in STX1A KO. These results suggested that STX1A plays an important role in social behavior through regulation of the OXTergic neural system. Dopamine (DA) release is reduced in CNS of syntaxin1A null mutant mice (STX1A KO). Unusual social behavior was observed in STX1A KO. We found that oxytocin (OXT) release, which was stimulated by DA, was reduced and was rescued the unusual social behavior in STX1A KO was rescued by OXT. These results indicated that STX1A plays an important role in promoting social behavior through regulation of DA-induced OXT release in amygdala. © 2016 International Society for Neurochemistry.

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.

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.

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.

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

Chemical peeling in ethnic skin: an update.

PubMed

Salam, A; Dadzie, O E; Galadari, H

2013-10-01

With the growth of cosmetic dermatology worldwide, treatments that are effective against skin diseases and augment beauty without prolonged recovery periods, or exposing patients to the risks of surgery, are increasing in popularity. Chemical peels are a commonly used, fast, safe and effective clinic room treatment that may be used for cosmetic purposes, such as for fine lines and photoageing, but also as primary or adjunct therapies for acne, pigmentary disorders and scarring. Clinicians are faced with specific challenges when using peels on ethnic skin (skin of colour). The higher risk of postinflammatory dyschromias and abnormal scarring makes peels potentially disfiguring. Clinicians should therefore have a sound knowledge of the various peels available and their safety in ethnic skin. This article aims to review the background, classification, various preparations, indications, patient assessment and complications of using chemical peels in ethnic skin. © 2013 The Authors BJD © 2013 British Association of Dermatologists.

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.

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.

Spectral reflectance properties of iridescent pierid butterfly wings.

PubMed

Wilts, Bodo D; Pirih, Primož; Stavenga, Doekele G

2011-06-01

The wings of most pierid butterflies exhibit a main, pigmentary colouration: white, yellow or orange. The males of many species have in restricted areas of the wing upper sides a distinct structural colouration, which is created by stacks of lamellae in the ridges of the wing scales, resulting in iridescence. The amplitude of the reflectance is proportional to the number of lamellae in the ridge stacks. The angle-dependent peak wavelength of the observed iridescence is in agreement with classical multilayer theory. The iridescence is virtually always in the ultraviolet wavelength range, but some species have a blue-peaking iridescence. The spectral properties of the pigmentary and structural colourations are presumably tuned to the spectral sensitivities of the butterflies' photoreceptors.

Behavioural Phenotype in Borjeson-Forssman-Lehmann Syndrome

ERIC Educational Resources Information Center

de Winter, C. F.; van Dijk, F.; Stolker, J. J.; Hennekam, R. C. M.

2009-01-01

Background: Borjeson-Forssman-Lehmann syndrome (BFLs) is an X-linked inherited disorder characterised by unusual facial features, abnormal fat distribution and intellectual disability. As many genetically determined disorders are characterised not only by physical features but also by specific behaviour, we studied whether a specific behavioural…

Progressive Pigmentary Purpura

MedlinePlus

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Progressive Pigmentary Purpura

MedlinePlus

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A Novel Mutation in the Endothelin B Receptor Gene in a Moroccan Family with Shah-Waardenburg Syndrome

PubMed Central

Doubaj, Yassamine; Pingault, Véronique; Elalaoui, Siham C.; Ratbi, Ilham; Azouz, Mohamed; Zerhouni, Hicham; Ettayebi, Fouad; Sefiani, Abdelaziz

2015-01-01

Waardenburg syndrome (WS) is a neurocristopathy disorder combining sensorineural deafness and pigmentary abnormalities. The presence of additional signs defines the 4 subtypes. WS type IV, also called Shah-Waardenburg syndrome (SWS), is characterized by the association with congenital aganglionic megacolon (Hirschsprung disease). To date, 3 causative genes have been related to this congenital disorder. Mutations in the EDNRB and EDN3 genes are responsible for the autosomal recessive form of SWS, whereas SOX10 mutations are inherited in an autosomal dominant manner. We report here the case of a 3-month-old Morrocan girl with WS type IV, born to consanguineous parents. The patient had 3 cousins who died in infancy with the same symptoms. Molecular analysis by Sanger sequencing revealed the presence of a novel homozygous missense mutation c.1133A>G (p.Asn378Ser) in the EDNRB gene. The proband's parents as well as the parents of the deceased cousins are heterozygous carriers of this likely pathogenic mutation. This molecular diagnosis allows us to provide genetic counseling to the family and eventually propose prenatal diagnosis to prevent recurrence of the disease in subsequent pregnancies. PMID:25852447

A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome.

PubMed

Doubaj, Yassamine; Pingault, Véronique; Elalaoui, Siham C; Ratbi, Ilham; Azouz, Mohamed; Zerhouni, Hicham; Ettayebi, Fouad; Sefiani, Abdelaziz

2015-02-01

Waardenburg syndrome (WS) is a neurocristopathy disorder combining sensorineural deafness and pigmentary abnormalities. The presence of additional signs defines the 4 subtypes. WS type IV, also called Shah-Waardenburg syndrome (SWS), is characterized by the association with congenital aganglionic megacolon (Hirschsprung disease). To date, 3 causative genes have been related to this congenital disorder. Mutations in the EDNRB and EDN3 genes are responsible for the autosomal recessive form of SWS, whereas SOX10 mutations are inherited in an autosomal dominant manner. We report here the case of a 3-month-old Morrocan girl with WS type IV, born to consanguineous parents. The patient had 3 cousins who died in infancy with the same symptoms. Molecular analysis by Sanger sequencing revealed the presence of a novel homozygous missense mutation c.1133A>G (p.Asn378Ser) in the EDNRB gene. The proband's parents as well as the parents of the deceased cousins are heterozygous carriers of this likely pathogenic mutation. This molecular diagnosis allows us to provide genetic counseling to the family and eventually propose prenatal diagnosis to prevent recurrence of the disease in subsequent pregnancies.

Collagenous gastritis: an unusual association with profound weight loss.

PubMed

Wang, Hanlin L; Shah, Amit G; Yerian, Lisa M; Cohen, Russell D; Hart, John

2004-02-01

Collagenous gastritis is a distinctive disorder characterized by thickening of the subepithelial collagen layer in the gastric mucosa. Although this entity was recognized in 1989, its etiology, pathogenesis, and clinicopathologic features remain poorly understood because of its rarity. An unusual case of collagenous gastritis was observed in a 37-year-old man who presented with profound weight loss, a feature that has not previously been emphasized.

Faculty and Government Roles in Campus Unrest

ERIC Educational Resources Information Center

Baxter, William F.

1969-01-01

This letter from a faculty member at Stanford University to the U.S. Assistant Attorney General "offers unusual perceptions of faculty opportunities for helpfulness in student disorders, and persuasive arguments for government to leave the essential responsibility for the problem of disorder to campus authorities. (Editor/WM)

Juvenile xanthogranuloma: an unusual cause of intratesticular mass in childhood.

PubMed

Weiss, Vivian L; Brock, John W; Cajaiba, Mariana M

2014-05-01

Juvenile xanthogranuloma (JXG) is a common histiocytic disorder of infancy and early childhood, most frequently presenting with cutaneous lesions. Whereas involvement of several visceral sites is well documented, only 4 cases of primary testicular JXG have been reported. Although this benign disorder typically presents with a favorable clinical outcome, the unusual presentation as an intratesticular lesion can lead to diagnostic challenges. In this study, we present the case of a 6-month-old male child with an incidentally discovered testicular mass that was diagnosed as a JXG and briefly review the existing literature in an attempt to bring awareness to this uncommon presentation. Copyright © 2014 Elsevier Inc. All rights reserved.

Autism in Early Childhood: An Unusual Developmental Course—Three Case Reports

PubMed Central

Cohen-Ophir, Michal; Castel-Deutsh, Tsophia; Tirosh, Emanuel

2012-01-01

Autistic spectrum disorder (ASD) is typically characterized by either an emerging and gradual course or developmental regression in early childhood. The versatile clinical course is progressively acknowledged in recent years. Children with developmental disorders in general are referred to the Child Development Center for a multidisciplinary assessment, investigation, treatment and followup. We report three infants with an initial diagnosis of developmental delays, recovery of normal development following intervention in a multidisciplinary center, and subsequent regression into classic autism following their discharge from the program. An extensive medical workup was noncontributory. This unusual presentation, to our knowledge not reported previously, should be recognized by professionals involved in child development and psychiatry. PMID:22937419

The assessment of schizotypy by the O-LIFE (Oxford-Liverpool Inventory for Feelings and Experiences) in patients with schizophrenia and affective disorders.

PubMed

Dembińska-Krajewska, Daria; Rybakowski, Janusz

2016-12-23

The aim of the study was to assess schizotypy by using the Oxford-Liverpool Inventory of Feelings and Experiences (O-LIFE), in the groups of patients with schizophrenia, bipolar disorder (BD) and unipolar (recurrent) depression (UD). An important element of the study was to compare - in terms of similarity - the results obtained in schizophrenia and BD, and - in terms of differences - the results obtained in BD and UD. The study involved 58 patients with schizophrenia (35 men, 23 women, mean age = 34.0, SD = 9.8), 52 patients with BD (22 men, 30 women, mean age = 40.3, SD = 13.6) and 57 UD patients (24 men, 33 women, mean age = 50.2, SD = 11.9), treated in the Department of Adult Psychiatry, Poznan University of Medical Sciences. For the assessment of schizotypy, the full version of the O-LIFE questionnaire (104 questions) was used, including such dimensions as: unusual experiences, cognitive disorganization, introvertive anhedonia and impulsive nonconformity. The biggest differences between diagnostic groups were found in the dimensions of unusual experiences and impulsive nonconformity. Similarities between schizophrenia and BD were found for unusual experiences, cognitive disorganization and introvertive anhedonia. Differences between BD and UD were obtained for unusual experiences and impulsive nonconformity. The assessment of schizotypy in three diagnostic groups (it was the first study in patients with UD), allowed to address contemporary pathogenic and clinical concepts pertaining to similarities between schizophrenia and BD as well as to differences between two types of affective disorders.

Variations in the Fe mineralogy of bright Martian soil

NASA Technical Reports Server (NTRS)

Murchie, Scott; Mustard, John; Erard, Stephane; Geissler, Paul; Singer, Robert

1993-01-01

Bright regions on Mars are interpreted as 'soil' derived by chemical alteration of crustal rocks, whose main pigmentary component is ferric oxide or oxyhydroxide. The mineralogy and mineralogic variability of ferric iron are important evidence for the evolution of Martian soil: mineralogy of ferric phases is sensitive to chemical conditions in their genetic environments, and the spatial distributions of different ferric phases would record a history of both chemical environments and physical mixing. Reflectance spectroscopic studies provide several types of evidence that discriminate possible pigmentary phases, including the position of a crystal field absorption near 0.9 microns and position and strengths of absorptions in the UV-visible wavelength region. Recent telescopic spectra and laboratory measurements of Mars soil analogs suggest that spectral features of bright soil can be explained based on a single pigmentary phase, hematite (alpha-Fe2O3), occurring in both 'nanophase' and more crystalline forms. Here we report on a systematic investigation of Martian bright regions using ISM imaging spectrometer data, in which we examined spatial variations in the position and shape of the approximately 0.9 microns absorption. We found both local and regional heterogeneities that indicate differences in Fe mineralogy. These results demonstrate that bright soils do not represent a single lithology that has been homogenized by eolian mixing, and suggest that weathering of soils in different geologic settings has followed different physical and chemical pathways.

Sensory Processing in Adults with Autism Spectrum Disorders

ERIC Educational Resources Information Center

Crane, Laura; Goddard, Lorna; Pring, Linda

2009-01-01

Unusual sensory processing has been widely reported in autism spectrum disorders (ASDs); however, the majority of research in this area has focused on children. The present study assessed sensory processing in adults with ASD using the Adult/Adolescent Sensory Profile (AASP), a 60-item self-report questionnaire assessing levels of sensory…

Living and Working with a Central Auditory Processing Disorder (CAPD).

ERIC Educational Resources Information Center

Paton, Judith W.

This paper describes adult symptoms of Central Auditory Processing Disorder and provides strategies for dealing with this disability. Symptoms include talking or turning on the television louder than normal, interpreting words too literally, needing remarks repeated, having difficulty sounding out words, ignoring people, being unusually sensitive…

Patients Reporting Ritual Abuse in Childhood: A Clinical Syndrome. Report of 37 Cases.

ERIC Educational Resources Information Center

Young, Walter C.; And Others

1991-01-01

Thirty-seven adult dissociative disorder patients who reported ritual abuse in childhood by satanic cults are described. A clinical syndrome is presented that includes dissociative states with satanic overtones, posttraumatic stress disorder, survivor guilt, unusual fears, and substance abuse. Questions concerning reliability, credibility, and…

Trichosporon inkin and Trichosporon mucoides as unusual causes of white piedra of scalp hair.

PubMed

Tendolkar, Uma; Shinde, Alka; Baveja, Sujata; Dhurat, Rachita; Phiske, Meghana

2014-01-01

White piedra of scalp hair is considered a rare entity. We report three cases of this disorder all of whom presented with nodules on the hair. Potassium hydroxide preparations of the hair revealed clustered arthrospores and mature, easily detachable nodules. Cultures grew Trichosporon inkin in 2 patients and Trichosporon mucoides in one patient. Both these fungi are unusual causes of white piedra.

Leber Congenital Amaurosis

MedlinePlus

... Campaign to End Blindness Other Ways to Fight Blindness Corporate Support Volunteer Take Action You are here ... become narrow and constricted. A variety of pigmentary (color) changes can also occur in the retinal pigment ...

Characteristics of challenging behaviours in adults with autistic disorder, PDD-NOS, and intellectual disability.

PubMed

Matson, Johnny L; Rivet, Tessa T

2008-12-01

Challenging behaviours are frequently a problem for people with autism spectrum disorders (ASD) and intellectual disability (ID). A better understanding of which individuals display which behaviours, at what rates, and the relationship of these behaviours to comorbid psychopathology would have important implications. A group of 161 adults with ASD (autistic disorder or Pervasive Developmental Disorder--Not Otherwise Specified [PDD-NOS]) and 159 matched controls with ID only residing in two large residential facilities in Southeastern United States, were studied using the Autism Spectrum Disorders--Behavior Problems for Adults (ASD-BPA). In all four categories of challenging behaviour measured by the ASD-BPA (Aggression/Destruction, Stereotypy, Self-Injurious Behavior, and Disruptive Behavior), frequency of challenging behaviours increased with severity of autistic symptoms. The greatest group differences were found for Stereotypy (repeated/unusual vocalisations/body movements and unusual object play), Self-Injurious Behavior (harming self and mouthing/swallowing objects), Aggression/Destruction (banging on objects), and Disruptive Behavior (elopement). Challenging behaviours in people with ASD and ID are barriers to effective education, training, and social development, and often persist throughout adulthood. Thus, programs designed to remediate such behaviours should continue across the life-span of these individuals.

Chemical-Induced Erythrocytosis in Wistar Rats: Assessment as a Model for Human Polycythemia.

DTIC Science & Technology

1985-05-01

polycythemic condition are unusual features that are more typically found in polycythemia vera, an autonomous myeloproliferative disorder in man that results...polycythemia vera, an autonomous myeloproliferative disorder in man that results from clonal neoplasia of bone marrow stem cells. However, the data described...5 and stroma cell lines [55]. These diseases are commonly termed ’ myeloproliferative disorders’, or better, ’myelodysplastic disease’ which emphasizes

Using electropalatography (EPG) to diagnose and treat articulation disorders associated with mild cerebral palsy: a case study.

PubMed

Gibbon, Fiona E; Wood, Sara E

2003-01-01

Some children with mild cerebral palsy have articulation disorders that are resistant to conventional speech therapy techniques. This preliminary study investigated the use of electropalatography (EPG) to diagnose and treat a long-standing articulation disorder that had not responded to conventional speech therapy techniques in an 8-year-old boy (D) with a congenital left hemiplegia. The targets for EPG therapy were speech errors affecting velar targets /k, g, eta/, which were consistently fronted to alveolar placement [t, d, n]. After 15 sessions of EPG therapy over a 4-month period, D's ability to produce velars improved significantly. The EPG data revealed two features of diagnostic importance. The first was an unusually asymmetrical pattern of tongue-palate contact and the second was unusually long stop closure durations. These features are interpreted as a subtle form of impaired speech motor control that could be related to a mild residual neurological deficit. The results suggest that EPG is of potential benefit for diagnosing and treating articulation disorders in individuals with mild cerebral palsy.

Ingestion Reiterada de Cuerpos Extranos. Forma Inusual de Presentacion del Sindrome de Munchausen por Poderes (Reiterated Ingestion of Foreign Bodies. Unusual Form of Presentation of Munchausen Syndrome by Proxy).

ERIC Educational Resources Information Center

Terreros, I. Gomez de; And Others

1996-01-01

An unusual case of Munchausen syndrome by proxy is reported. A mother with a psychiatric record of behavior disorders and family dysfunction perpetrated the ingestion of foreign bodies (for example, earrings, a screw, sewing needles) on a 10-month-old infant with a history of prematurity, repeated visits to emergency rooms, and nonjustified…

Melanocortin 1 receptor and skin pathophysiology: beyond colour, much more than meets the eye.

PubMed

García-Borrón, José Carlos; Olivares, Concepción

2014-06-01

The melanocortin 1 receptor (MC1R), a G protein-coupled receptor preferentially expressed in melanocytes, mediates the pigmentary effects of α melanocyte-stimulating hormone (αMSH). MC1R is also expressed in other cutaneous cell types, particularly keratinocytes and dermal fibroblasts, suggesting non-pigmentary actions of the αMSH/MC1R system. Böhm and Stegemann now report a dramatic effect of mouse Mc1r functional status on susceptibility to skin fibrosis and collagen types I and III metabolism, in a study combining the powerful mouse model provided by the natural Mc1r(e/e) knockout and an established model of skin fibrosis. The study underscores the antifibrotic role for the skin αMSH/MC1R system. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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.

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.

GABA(A) Receptor Alpha5 Subunit as a Candidate Gene for Autism and Bipolar Disorder: A Proposed Endophenotype with Parent-of-Origin and Gain-of-Function Features, with or without Oculocutaneous Albinism

ERIC Educational Resources Information Center

Delong, Robert

2007-01-01

Our earlier family history studies of individuals with autism found a high incidence of major affective disorder, especially bipolar disorder, and unusual talents or intellectual abilities among family members. We now describe a subgroup of such families, selected from a large clinical experience, illustrating specific features of major affective…

Lurasidone

MedlinePlus

Lurasidone is used to treat the symptoms of schizophrenia (a mental illness that causes disturbed or unusual ... often than prescribed by your doctor.Lurasidone controls schizophrenia and depression in people with bipolar disorder but ...

Chlorpromazine

MedlinePlus

Chlorpromazine is used to treat the symptoms of schizophrenia (a mental illness that causes disturbed or unusual ... chlorpromazine.If you are taking chlorpromazine to treat schizophrenia or another psychotic disorder, chlorpromazine may control your ...

Quetiapine

MedlinePlus

... tablets are used to treat the symptoms of schizophrenia (a mental illness that causes disturbed or unusual ... a treatment program to treat bipolar disorder and schizophrenia in children and teenagers. Quetiapine is in a ...

Unusual headaches in the elderly.

PubMed

Bamford, Cynthia C; Mays, MaryAnn; Tepper, Stewart J

2011-08-01

Prevalence of headache lowers with age, and headaches of elderly adults tend to be different than those of the younger population. Secondary headaches, such as headaches associated with vascular disease, head trauma, and neoplasm, are more common. Also, certain headache types tend to be geriatric disorders, such as primary cough headache, hypnic headache, typical aura without headache, exploding head syndrome, and giant cell arteritis. This review provides an overview of some of the major and unusual geriatric headaches, both primary and secondary.

Enduring Mental Health: Prevalence and Prediction

PubMed Central

2016-01-01

We review epidemiological evidence indicating that most people will develop a diagnosable mental disorder, suggesting that only a minority experience enduring mental health. This minority has received little empirical study, leaving the prevalence and predictors of enduring mental health unknown. We turn to the population-representative Dunedin cohort, followed from birth to midlife, to compare people never-diagnosed with mental disorder (N = 171; 17% prevalence) to those diagnosed at 1–2 study waves, the cohort mode (N = 409). Surprisingly, compared to this modal group, never-diagnosed Study members were not born into unusually well-to-do families, nor did their enduring mental health follow markedly sound physical health, or unusually high intelligence. Instead, they tended to have an advantageous temperament/personality style, and negligible family history of mental disorder. As adults, they report superior educational and occupational attainment, greater life satisfaction, and higher-quality relationships. Our findings draw attention to “enduring mental health” as a revealing psychological phenotype and suggest it deserves further study. PMID:27929304

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

Donor Stem Cell Transplant or Donor White Blood Cell Infusions in Treating Patients With Hematologic Cancer

ClinicalTrials.gov

2017-09-25

Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Unusual Cancers of Childhood

Olanzapine Injection

MedlinePlus

Olanzapine extended-release injection is used to treat schizophrenia (a mental illness that causes disturbed or unusual ... treat episodes of agitation in people who have schizophrenia or in people who have bipolar I disorder ( ...

Unusual early-onset Huntingtons disease.

PubMed

Vargas, Antonio P; Carod-Artal, Francisco J; Bomfim, Denise; Vázquez-Cabrera, Carolina; Dantas-Barbosa, Carmela

2003-06-01

Huntington's disease is an autosomal dominant progressive neurodegenerative disorder characterized by involuntary movements, cognitive decline, and behavioral disorders leading to functional disability. In contrast to patients with adult onset, in which chorea is the major motor abnormality, children often present with spasticity, rigidity, and significant intellectual decline associated with a more rapidly progressive course. An unusual early-onset Huntington's disease case of an 11-year-old boy with severe hypokinetic/rigid syndrome appearing at the age of 2.5 years is presented. Clinical diagnosis was confirmed by polymerase chain reaction study of the expanded IT-15 allele with a compatible size of 102 cytosine-adenosine-guanosine repeats L-Dopa mildly ameliorated rigidity, bradykinesia, and dystonia. We conclude that Huntington's disease should be included in the differential diagnoses of regressive syndromes of early childhood.

Deafness on the island of Providencia - Colombia: different etiology, different genetic counseling.

PubMed

Lattig, M C; Gelvez, N; Plaza, S L; Tamayo, G; Uribe, J I; Salvatierra, I; Bernal, J E; Tamayo, M L

2008-01-01

Providencia is a small island located in the Caribbean Ocean, northwest of Colombia with an unusually high frequency of individuals with hearing loss (5 in 1,000) is present. The hearing loss in the island was characterized as non-syndromic autosomal recessive deafness accounting for 47% (8/17) of the deaf population, Waardenburg Syndrome (deafness associated with pigmentary anomalies) for 29% (5/17), and the remaining 24% (4/17) are cases of sporadic non-syndromic deafness. For appropriate genetic counseling a complete pedigree of families with deaf individuals was constructed. The 35delG mutation in GJB2 gene, which encodes connexin 26 (Cx26), is responsible for the deafness observed in the 8 individuals with autosomal recessive non-syndromic hearing loss. The deaf individuals with Waardenburg Syndrome and the sporadic cases did not have this mutation. Therefore, we present here an atypical case of an isolated community with at least two different genetic etiologies for deafness: non-syndromic genetic deafness caused by the 35delG mutation in the GJB2 gene and deafness associated with Waardenburg Syndrome not related to GJB2. In a small and isolated population, it is feasible to assume that the deafness is caused by the same factor; however, Providencia is an atypical case. Therefore, it is extremely important to define the exact etiology of deafness in each case, since different etiologies require different genetic counseling.

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, 1.18–2.39) and SCC (OR, 1.54; 95% CI, 1.08–2.19). These associations remained similar after adjusting for pigmentary phenotypes and MC1R variants. The statistical power of this study was modest and additional studies are warranted to confirm the associations observed in the present study. This study provides evidence for the contribution of pigmentation genetic variants, in addition to the MC1R variants, to variation in human pigmentary phenotypes and possibly the development of skin cancer. PMID:19384953

Linkage analysis excludes the glaucoma locus on 1q from involvement in autosomal dominant glaucoma with iris hypoplasia

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

Heon, E.; Sheth, B.P.; Kalenak, J.W.

1994-09-01

Genetic factors have been implicated in a variety of types of glaucoma including primary open-angle glaucoma, infantile glaucoma, pigmentary glaucoma, and juvenile open-angle glaucoma. We previously mapped the disease-causing gene for one type of juvenile open angle glaucoma to chromosome 1q21-31. Weatherill and Hart (1969) and Pearce (1983) each noted the association of iris hypoplasia and early-onset autosomal dominant glaucoma. We recently had the opportunity to study a large family (12 affected members) with this phenotype. Affected individuals developed glaucoma at an average age of 30 years. These patients also have a strikingly underdeveloped iris stroma which causes a peculiarmore » eye color. Linkage analysis was able to completely exclude the 1q glaucoma locus from involvement in the disorder that affects this family. A complete clinical description of the family and linkage results at additional candidate loci will be presented.« less

Desert Dermatoses (Thar Desert, India).

PubMed

Chatterjee, Col Manas

2017-01-01

Desert dermatology describes the cutaneous changes and the diseases affecting those living in the desert. Diurnal variation in temperature is high and is characteristic of the deserts. The lack of water affects daily activities and impacts dermatological conditions. Adaptation to the desert is, therefore, important to survival. Infections are the most common conditions seen among this population, and among them, fungal infections are the most common. The high incidence of these infections would be accounted for by the poor hygienic conditions due to lack of bathing facilities due to scarcity of water and the consequent sweat retention and overgrowth of cutaneous infective organisms. Pigmentary disorders, photodermatoses, leishmaniasis, and skin tumors are found to be more prevalent in this region. Desert sweat dermatitis was another specific condition found to have an increased incidence. The environment of the desert provides for a wide variety of dermatoses that can result in these regions with few of these dermatoses found in much higher incidence than in other regions.

Desert Dermatoses (Thar Desert, India)

PubMed Central

Chatterjee, Col Manas

2017-01-01

Desert dermatology describes the cutaneous changes and the diseases affecting those living in the desert. Diurnal variation in temperature is high and is characteristic of the deserts. The lack of water affects daily activities and impacts dermatological conditions. Adaptation to the desert is, therefore, important to survival. Infections are the most common conditions seen among this population, and among them, fungal infections are the most common. The high incidence of these infections would be accounted for by the poor hygienic conditions due to lack of bathing facilities due to scarcity of water and the consequent sweat retention and overgrowth of cutaneous infective organisms. Pigmentary disorders, photodermatoses, leishmaniasis, and skin tumors are found to be more prevalent in this region. Desert sweat dermatitis was another specific condition found to have an increased incidence. The environment of the desert provides for a wide variety of dermatoses that can result in these regions with few of these dermatoses found in much higher incidence than in other regions. PMID:28216726

Low-level laser (light) therapy (LLLT) in skin: stimulating, healing, restoring.

PubMed

Avci, Pinar; Gupta, Asheesh; Sadasivam, Magesh; Vecchio, Daniela; Pam, Zeev; Pam, Nadav; Hamblin, Michael R

2013-03-01

Low-level laser (light) therapy (LLLT) is a fast-growing technology used to treat a multitude of conditions that require stimulation of healing, relief of pain and inflammation, and restoration of function. Although skin is naturally exposed to light more than any other organ, it still responds well to red and near-infrared wavelengths. The photons are absorbed by mitochondrial chromophores in skin cells. Consequently, electron transport, adenosine triphosphate nitric oxide release, blood flow, reactive oxygen species increase, and diverse signaling pathways are activated. Stem cells can be activated, allowing increased tissue repair and healing. In dermatology, LLLT has beneficial effects on wrinkles, acne scars, hypertrophic scars, and healing of burns. LLLT can reduce UV damage both as a treatment and as a prophylactic measure. In pigmentary disorders such as vitiligo, LLLT can increase pigmentation by stimulating melanocyte proliferation and reduce depigmentation by inhibiting autoimmunity. Inflammatory diseases such as psoriasis and acne can also be managed. The noninvasive nature and almost complete absence of side effects encourage further testing in dermatology.

Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2

PubMed Central

Sun, Jie; Hao, Ziqi; Luo, Hunjin; He, Chufeng; Mei, Lingyun; Liu, Yalan; Wang, Xueping; Niu, Zhijie; Chen, Hongsheng; Li, Jia-Da; Feng, Yong

2017-01-01

Waardenburg syndrome (WS) is an autosomal dominant inherited neurogenic disorder with the combination of various degrees of sensorineural deafness and pigmentary abnormalities affecting the skin, hair and eye. The four subtypes of WS were defined on the basis of the presence or absence of additional symptoms. Mutation of human microphthalmia-associated transcription factor (MITF) gene gives rise to WS2. Here, we identified a novel WS-associated mutation at the stop codon of MITF (p.X420Y) in a Chinese WS2 patient. This mutation resulted in an extension of extra 33 amino-acid residues in MITF. The mutant MITF appeared in both the nucleus and the cytoplasm, whereas the wild-type MITF was localized in the nucleus exclusively. The mutation led to a reduction in the transcriptional activities, whereas the DNA-binding activity was not altered. We show that the foremost mechanism was haploinsufficiency for the mild phenotypes of WS2 induced in X420Y MITF. PMID:28356565

Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2.

PubMed

Sun, Jie; Hao, Ziqi; Luo, Hunjin; He, Chufeng; Mei, Lingyun; Liu, Yalan; Wang, Xueping; Niu, Zhijie; Chen, Hongsheng; Li, Jia-Da; Feng, Yong

2017-07-01

Waardenburg syndrome (WS) is an autosomal dominant inherited neurogenic disorder with the combination of various degrees of sensorineural deafness and pigmentary abnormalities affecting the skin, hair and eye. The four subtypes of WS were defined on the basis of the presence or absence of additional symptoms. Mutation of human microphthalmia-associated transcription factor (MITF) gene gives rise to WS2. Here, we identified a novel WS-associated mutation at the stop codon of MITF (p.X420Y) in a Chinese WS2 patient. This mutation resulted in an extension of extra 33 amino-acid residues in MITF. The mutant MITF appeared in both the nucleus and the cytoplasm, whereas the wild-type MITF was localized in the nucleus exclusively. The mutation led to a reduction in the transcriptional activities, whereas the DNA-binding activity was not altered. We show that the foremost mechanism was haploinsufficiency for the mild phenotypes of WS2 induced in X420Y MITF.

[Asperger syndrome associated with macrosomia and sexual identity disorder].

PubMed

Fleta Zaragozano, J; Zapata Usábel, M; López Moreno, María J; Olivares López, J L

2005-10-01

Asperger Syndrome is a pervasive developmental disorder of unknown origin, characterized by pedantic language, lack of reciprocity in social interactions, unusual interests, motor clumsiness and normal or above average intelligence quotient, among other symptoms. Since 1994 it has been defined as a specific entity. We describe the case of a boy with this syndrome, with elevated body weight and height and sexual identity disorder. These alterations have not previously been described in the scientific literature on Asperger syndrome.

A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation.

PubMed

Talreja, Shyam M; Banerjee, Indraneel; Yadav, Sher Singh; Tomar, Vinay

2015-01-01

Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both ovarian and testicular tissues in the same individual. It's incidence ranges from 3% to 10% of all disorder of DSD's, and the most common presentation is 46, XX followed by 46, XX/46, XY mosaicism and 46, XY. Klinefelter syndrome (KS) mosaicism 46, XX/47, XXY is extremely rare, and its association with the ovotesticular disorder is even rarer. We report an unusual case of 16-year-old with male habitus who presented with complains of cyclic hematuria. On examination, he had bilateral gynecomastia, unilateral left cryptorchidism, absent facial hair, sparse axillary hair growth, and pubic hair distribution of feminine type. The right testis was of normal size located normally in hemiscrotum and was confirmed by radio imaging. Ultrasonography and magnetic resonance imaging revealed a cystic area behind posterior half of urinary bladder. Chromosomal analysis revealed 46, XX/47, XXY mosaicism of female karyotype and KS. Histopathological report of this left side excised specimen confirmed the structures to be ovary, uterus, and fallopian tube, thus confirming our diagnosis of the lateral ovotesticular disorder. Meticulous workup combined interdisciplinary approach will lead to early diagnosis and resolve timely sex reassignment issues and also prevent consequences arising due to gonadal insufficiency.

Pigment dispersion syndrome associated with intraocular lens implantation: a new surgical technique.

PubMed

Canut Jordana, M Isabel; Pérez Formigó, Daniel; Abreu González, Rodrigo; Nadal Reus, Jeroni

2010-11-11

We report the case of a myopic patient who, after intraocular lens transplant in the posterior chamber, suffered elevated intraocular pressure due to pigment dispersion, with recurrent episodes of blurred vision. The patient was treated with a new surgical technique that can avoid potential iridolenticular contact. Complete ophthalmologic examination and optical coherence tomography (OCT) of the anterior segment were performed. Contact between the pigmentary epithelium and the iris with an intraocular lens was revealed by utrasound biomicroscopy and OCT. In this case, Nd:YAG laser iridotomy and laser iridoplasty were not effective for iridolenticular separation and control of the pigment dispersion. We propose a new technique: stitches on the surface of the iris to obtain good iridolenticular separation and good intraocular pressure control. Stitches on the iris surface should be considered as optional therapy in pigmentary glaucoma secondary to intraocular lens implantation. This surgical technique can avoid potential iridolenticular contacts more definitively.

Unilateral retinitis pigmentosa occurring in an individual with a mutation in the CLRN1 gene.

PubMed

Sim, Peng Yong; Jeganathan, V Swetha E; Wright, Alan F; Cackett, Peter

2018-03-15

This case report depicts the clinical course of a female patient with unilateral retinitis pigmentosa, who first presented at the age of 12 years. Fundus photography at the time revealed unilateral pigmentary retinopathy, which was associated with extinguished electroretinogram (ERG) signal. At 35 years of age, fundus examination revealed deterioration of pre-existing unilateral pigmentary retinopathy with progressive visual field defect detected on Goldmann visual field testing. ERG findings remained unchanged and multifocal ERG showed unilateral decrease in amplitude in the affected eye. The patient was referred for genetic counselling. Next-generation sequencing identified a deleterious heterozygous c.118T>G (p.Cys40Gly) mutation in the CLRN1 gene. © 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.

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

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.

Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls.

PubMed

Rodolico, Carmelo; Parisi, Daniela; Portaro, Simona; Biasini, Fiammetta; Sinicropi, Stefano; Ciranni, Annamaria; Toscano, Antonio; Messina, Sonia; Musumeci, Olimpia; Vita, Giuseppe; Girlanda, Paolo

2016-08-30

Myasthenia gravis (MG) is an autoimmune disorder presenting with fluctuating, fatigable muscle weakness. Initial symptoms classically involve ocular and proximal limb muscles. Rarely, MG may onset with unusual features, so it can be misdiagnosed with other neuromuscular diseases. To describe unusual and atypical presentations of MG in a large cohort of patients, considering and discussing diagnostic difficulties and pitfalls. We report on 21 out of 508 MG patients, coming to our department in the last 27 years and presenting with atypical or unusual features. The diagnosis was achieved performing a careful clinical examination, a proper neurophysiological assessment, the neostigmine test, the AChR and MuSK antibodies assay and chest CT-scan. Patients with atypical/unusual MG onset were the 4.4% of all MG patients population. We describe seven different clinical categories: asymmetric distal upper limbs weakness, foot drop, isolated triceps brachii weakness and foot drop, post exertional axial weakness with dropped head, acute facial dyplegia, limb-girdle MG and MG with sudden lower limbs weakness and recurrent falls. Atypical and unusual presentations may increase the risk to misdiagnose or delay MG diagnosis. Isolated limb-girdle presentation is the most frequent atypical form in our series.

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.

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.

"Counseling" in Ophthalmology.

ERIC Educational Resources Information Center

Francois, J.

1976-01-01

The need to counsel patients with genetic ophthalmological problems is stressed in the article. Assessment of autosomal dominance or autosomal recessitivity in an individual is explained and sex-linked heredity is traced. Practical examples of genetic abnormalities, such as pigmentary retinopathy and chorodineremia, are discussed. (PHR)

Brief Report: An Unusual Manifestation of Diagnostic Overshadowing of Pervasive Developmental Disorder--Not Otherwise Specified--A Five Year Longitudinal Case Study

ERIC Educational Resources Information Center

Meera, S. S.; Kaipa, Ramesh; Thomas, Jaslin; Shivashankar, N.

2013-01-01

Children with communication disorders present with a range of comorbid conditions. Occasionally one of the comorbid conditions manifests so strongly that the primary condition goes unnoticed by the clinician. This tendency to overlook comorbid health problems in the presence of a disability is referred to as diagnostic overshadowing. This is a…

Disorders of Behavioral and Emotional Regulation in the First Years of Life: Early Risks and Intervention in the Developing Parent-Infant Relationship

ERIC Educational Resources Information Center

Papousek, Mechthild, Ed.; Schieche, Michael, Ed.; Wurmser, Harald, Ed.

2007-01-01

For every five healthy babies and infants, there is at least one who brings unusual stresses for its parents with behaviors such as inconsolable crying, sleep disorders, refusal to eat, chronic moodiness, incessant demands for attention, fearful clinging, or tantrums. Available for the first time in English, this influential German collection…

[Patients with unusual requests for extractions 2. Mental incompetency and psycho-pathologic causes].

PubMed

Broers, D L M; Brands, W G; de Jongh, A; Willems, D L

2010-11-01

If there is no indication for tooth removal purely based on dental criteria, but the patient requests for removal due to fear of dental treatment, or because of a mental disorder such as posttraumatic stress disorder, a somatoform pain disorder or a disorder of body image perception, then the question is whether the patient is mentally competent to make this decision. In case of a tooth removal request on psychopathologic basis, a dentist has to refuse to carry out such treatment, but he should make an effort to help or guide the patient in some other way.

Bovine Spongiform Encephalopathy (BSE), or Mad Cow Disease

MedlinePlus

... the CDC Bovine Spongiform Encephalopathy (BSE), or Mad Cow Disease Note: Javascript is disabled or is not ... spongiform encephalopathy) is a progressive neurological disorder of cattle that results from infection by an unusual transmissible ...

A boy with developmental delay, malformations, and evidence of a connective tissue disorder: possibly a new type of cutis laxa.

PubMed

Armstrong, Linlea; Jimenez, Carmencita; Hunter, Alasdair G W

2003-05-15

We report a 7.5-year-old boy with loose translucent skin, aortic dilatation, hyperextensible veins, recurrent respiratory problems, pectus excavatum, arthralgias, lax joints, mild epiphyseal dysplasia, and umbilical and inguinal hernias. He also has developmental delay, progressive bilateral sensorineural hearing loss, an unusual facial appearance, terminal digit hypoplasia with unusual radiographic changes in some of the phalanges, glandular hypospadias, shawl scrotum, and undescended testes. Biochemical investigations, including electrophoresis of Types 1 and 3 procollagens and collagens, and quantification of serum copper and ceruloplasmin, are normal. Relative to age-matched control patients the electron micrographs of the boy's dermis show elastin fibers to be decreased in number, and abnormal in appearance, with a low matrix to microfibril ratio. The organ distribution of abnormalities and the nature of the findings suggest a connective tissue disorder. We contrast and compare this boy's phenotype to those of the classic connective tissue disorders. We conclude that he has cutis laxa with features that distinguish him from previously described types of cutis laxa. Copyright 2003 Wiley-Liss, Inc.

Eating disorders during pregnancy.

PubMed

Cardwell, Michael S

2013-04-01

Eating disorders during pregnancy, once thought to be rare, occur in a significant number of women. The incidences of the major eating disorders-anorexia nervosa and bulimia nervosa-are increasing because of cultural pressures on the drive for thinness. Because the age range for these major eating disorders overlaps with the age range for reproductive function, it is not unusual for a clinician to encounter a pregnant patient with a major eating disorder. Eating disorders attributable to the pregnant state include pregnancy sickness, pica, and ptyalism. The diagnostic criteria, etiology, nutritional behavioral influences, evolutionary psychological considerations where elucidated, and treatment of these disorders will be presented. Obstetricians and gynecologists, family physicians After completing this CME activity, physicians should be better able to review how the major eating disorders impact pregnancy, to diagnose eating disorders during pregnancy using the diagnostic criteria, and to treat eating disorders during pregnancy.

PHAGOCYTOSIS BY RETINAL PIGMENT EPITHELIAL CELLS IN VITRO IS AFFECTED BY EXPOSURE TO PESTICIDES.

EPA Science Inventory

Purpose:Agricultural and occupational exposures to the fungicides benomyl and captan and the insecticide fenthion have been associated with retinal degeneration. Exposure to insecticides has also been associated with pigmentary changes of the retina. Because retinal degeneration ...

Unusual headache syndromes.

PubMed

Queiroz, Luiz P

2013-01-01

Some headache syndromes have few cases reported in the literature. Their clinical characteristics, pathogenesis, and treatment may have not been completely defined. They may not actually be uncommon but rather under-recognized and/or underreported. A literature review of unusual headache syndromes, searching PubMed and ISI Web of Knowledge, was performed. After deciding which disorders to study, relevant publications in scientific journals, including original articles, reviews, meeting abstracts, and letters or correspondences to the editors were searched. This paper reviewed the clinical characteristics, the pathogenesis, the diagnosis, and the treatment of five interesting and unusual headache syndromes: exploding head syndrome, red ear syndrome, neck-tongue syndrome, nummular headache, and cardiac cephalgia. Recognizing some unusual headaches, either primary or secondary, may be a challenge for many non-headache specialist physicians. It is important to study them because the correct diagnosis may result in specific treatments that may improve the quality of life of these patients, and this can even be life saving. © 2013 American Headache Society.

Generalised lymphangiectasia: pulmonary presentation in an adult.

PubMed Central

White, J. E.; Veale, D.; Fishwick, D.; Mitchell, L.; Corris, P. A.

1996-01-01

A 25 year old man presented with dyspnoea and was found to have generalised, but predominantly pulmonary, lymphangiectasis without gastrointestinal symptoms. This is an unusual presentation of a disorder previously diagnosed only in childhood. Images PMID:8882089

Tourette Syndrome

MedlinePlus

If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat- ... spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. It ...

Isolating the anisotropy of the characteristic remanence-carrying hematite grains: a first multispecimen approach

NASA Astrophysics Data System (ADS)

Bilardello, Dario

2015-08-01

Separating the contribution of different hematite coercivity grains to the magnetic fabric is a standing problem in rock magnetism because of the common occurrence of thermochemical alterations when measuring the anisotropy of thermal remanence. A technique that eliminates this bias is presented, which is useful when there is a need to separate the fabric of detrital from pigmentary hematite, for example. The method is based on stepwise thermal demagnetization of saturation isothermal remanent magnetizations (IRMs) applied orthogonally on three sister specimens, allowing calculation of the anisotropy tensor from the three components of each demagnetized IRM vector, avoiding the necessity of having to apply IRMs to thermochemically altered specimens. Vector subtraction allows determining the anisotropy tensor for specific unblocking-temperature ranges. The anisotropies of the pigmentary, specular and total hematite of the Mauch Chunk Formation red beds of Pennsylvania have been measured from an oriented block sample and results are compared to previous anisotropy measurements performed using the high-field anisotropy of isothermal remanence technique (hf-AIR), which measures total undifferentiated hematite. Experiments were conducted using non-saturating 1 T and fully saturating 5.5 T fields: both experimental sets seem capable of measuring the orientation of the specularite anisotropy principal axes, but 5.5 T are needed to capture the orientation of the higher coercivity pigmentary grains. The magnitudes of the principal axes, instead, are only faithfully measured using 5.5 T fields and yield somewhat higher anisotropies than those measured by hf-AIR. The fundamental requirement for this technique is homogeneous material among the three sister specimens, which is a significant limitation; homogeneity tests allow assessment of applicability of the method and reliability of the results.

Prevalence of Early and Late Age-Related Macular Degeneration in India: The INDEYE Study

PubMed Central

Krishnan, Tiruvengada; Ravindran, Ravilla D.; Murthy, Gudlavalleti V. S.; Vashist, Praveen; Fitzpatrick, Kathryn E.; Thulasiraj, R. Duraisami; John, Neena; Maraini, Giovanni; Camparini, Monica; Chakravarthy, Usha

2010-01-01

Purpose. To estimate the prevalence of early and late age-related macular degeneration (AMD) in India. Methods. Of 7518 people aged 60 years and older identified from randomly sampled villages in North and South India, 5853 (78%) attended an eye examination including fundus photography. Fundus images were graded according to the Wisconsin Age-Related Maculopathy Grading System. Results. Fundus images were ungradable in 1587 people, mainly because of cataract. People 80 years of age and older were less likely to attend the eye examination and more likely to have ungradable images. For ages 60 to 79 years, the percent prevalence (95% confidence interval [CI]) were late AMD 1.2 (0.8–1.5); and early AMD: grade 1 (soft distinct drusen or pigmentary irregularities), 39.3 (37.2–41.5); grade 2 (soft distinct drusen with pigmentary irregularities or soft indistinct or reticular drusen), 6.7 (5.8–7.6); and grade 3 (soft indistinct or reticular drusen with pigmentary irregularities), 0.2 (0.1–0.4). For ages 80 and older, the respective percent prevalence was: late AMD, 2.5 (0.4–4.7); and early AMD: grade 1, 43.1(35.7–50.6); grade 2, 8.1 (4.3–12.0); and grade 3, 0.5 (0–1.5). Conclusions. The prevalence of early AMD (grades 1 and 2) is similar to that observed in Western populations, but grade 3 appears to be lower. The prevalence of late AMD is comparable to that in Western populations in the age group 60 to 79 years. It is likely that the prevalence in the 80 and older age group is underestimated. PMID:19696177

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

Increased Prevalence of Unusual Sensory Behaviors in Infants at Risk for, and Teens with, Autism Spectrum Disorder.

PubMed

Van Etten, Hannah M; Kaur, Maninderjit; Srinivasan, Sudha M; Cohen, Shereen J; Bhat, Anjana; Dobkins, Karen R

2017-11-01

The current study investigated the prevalence and pattern of unusual sensory behaviors (USBs) in teens with Autism Spectrum Disorder (ASD) and infants (3-36 months) at risk for ASD. From two different sites (UCSD and UConn), caregivers of infants at high (n = 32) and low risk (n = 33) for ASD, and teenagers with (n = 12) and without ASD (n = 11), completed age-appropriate Sensory Profile questionnaires (Infant/Toddler Sensory Profile; Dunn 2002; Adolescent/Adult Sensory Profile; Brown and Dunn 2002). The results show that high-risk infants and teenagers with ASD exhibit higher-than-typical prevalence of USBs. Results of our distribution analyses investigating the direction of sensory atypicalities (greater-than-typical vs. less-than-typical) revealed a fair degree of consistency amongst teens, however, USB patterns were more varied in high-risk infants.

Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 – qter, autism spectrum disorder and unusual features

PubMed Central

Al-Sarraj, Yasser; Al-Khair, Hakam Abu; Taha, Rowaida Ziad; Khattab, Namat; El Sayed, Zakaria H; Elhusein, Bushra; El-Shanti, Hatem

2014-01-01

Key Clinical Message We report on a patient with distal trisomy 10q syndrome presenting with a few previously undescribed physical features, as well as, autism spectrum disorder (ASD). We recommend that patients with distal trisomy 10q syndrome should have a behavioral evaluation for ASD for the early institution of therapy. PMID:25614812

Familial endocrine myxolentiginosis.

PubMed

Panossian, D H; Marais, G E; Marais, H J

1995-11-01

We present an unusual case of a left atrial myxoma as a feature of a familial mesoectodermal disorder and review the literature. The new term "familial endocrine myxolentiginosis" is proposed, which is descriptive of the major clinical components of the syndrome. Myriad features of this disorder include (1) cardiac myxomas; (2) cutaneous myxomas; (3) multiple lentigines or blue nevi, particularly of the head and neck; (4) bilateral primary pigmented nodular adrenocortical hyperplasia; (5) unusual testicular tumors; (6) pituitary tumors; (7) myxoid fibroadenomas of the breast; (8) myxomatous disorder of the stroma of the breast; (9) ductal adenoma of the breast; and (10) psammomatous melanotic schwannoma. A tentative diagnosis is suggested by identifying two features and a definitive diagnosis is made by three or more features. The clinical and pathologic features of cardiac myxoma in familial endocrine myxolentiginosis are identical to those of familial cardiac myxoma: age < 40 years, atypical locations, multicentric origins, and recurrent presentations. A Venn diagram classification for cardiac myxomas is proposed. We include photographic, echocardiographic, biopsy, and adrenal computerized tomography documentation in our patient. Recognition of this disorder is important because of its clinical, surgical, and genetic implications. The availability of transesophageal echocardiographic technology should allow early diagnosis of this underdiagnosed entity. Clinicians should consider this entity in the differential diagnosis of their patients with any one of these manifestations.

[The case of an adult man with savant syndrome in the course of autism spectrum disorder].

PubMed

Sipowicz, Kasper; Pietras, Tadeusz

2017-07-21

The paper reports on a case of 57-year man with autism spectrum disorder and epilepsy with an unusual feature of calendar calculation. Namely, this is the case of savant syndrome, which appears rarely in the course of various neuropsychiatric disorders. Commorbidity of epilepsy and autism particularly predispose to the aforementioned syndrome. In the presented case, apart from the calendar calculation, the man has high language abilities. As previous studies suggest, the extraordinary abilities among persons with savant syndrome works similarly to the language module in healthy persons. Savant syndrome may appear in any patient with neuropsychiatric disorders, particularly in those suffering from autism spectrum disorder with comorbid epilepsy.

Protecting clean critical points by local disorder correlations

NASA Astrophysics Data System (ADS)

Hoyos, J. A.; Laflorencie, Nicolas; Vieira, André.; Vojta, Thomas

2011-03-01

We show that a broad class of quantum critical points can be stable against locally correlated disorder even if they are unstable against uncorrelated disorder. Although this result seemingly contradicts the Harris criterion, it follows naturally from the absence of a random-mass term in the associated order-parameter field theory. We illustrate the general concept with explicit calculations for quantum spin-chain models. Instead of the infinite-randomness physics induced by uncorrelated disorder, we find that weak locally correlated disorder is irrelevant. For larger disorder, we find a line of critical points with unusual properties such as an increase of the entanglement entropy with the disorder strength. We also propose experimental realizations in the context of quantum magnetism and cold-atom physics. Financial support: Fapesp, CNPq, NSF, and Research Corporation.

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.

Atrophia maculosa varioliformis cutis.

PubMed

Kuflik, Julianne H; Schwartz, Robert A; Becker, Kenneth A; Lambert, W Clark

2005-10-01

Atrophia maculosa varioliformis cutis is a rare disease characterized by spontaneously formed facial scars in young adults. Its etiology is unknown; there may be an underlying defect of dermal elastin. We discuss a patient with this unusual disorder and review its literature.

Unusual developmental pattern of brain lateralization in young boys with autism spectrum disorder: Power analysis with child-sized magnetoencephalography.

PubMed

Hiraishi, Hirotoshi; Kikuchi, Mitsuru; Yoshimura, Yuko; Kitagawa, Sachiko; Hasegawa, Chiaki; Munesue, Toshio; Takesaki, Natsumi; Ono, Yasuki; Takahashi, Tsutomu; Suzuki, Michio; Higashida, Haruhiro; Asada, Minoru; Minabe, Yoshio

2015-03-01

Autism spectrum disorder (ASD) is often described as comprising an unusual brain growth pattern and aberrant brain lateralization. Although it is important to study the pathophysiology of the developing ASD cortex, examples of physiological brain lateralization in young children with ASD have yet to be well examined. Thirty-eight boys with ASD (aged 3-7 years) and 38 typically developing (TD) boys (aged 3-8 years) concentrated on video programs and their brain activities were measured non-invasively. We employed a customized child-sized magnetoencephalography system in which the sensors were located as close to the brain as possible for optimal recording in young children. To produce a credible laterality index of the brain oscillations, we defined two clusters of sensors corresponding to the right and left hemispheres. We focused on the laterality index ([left - right]/[left+right]) of the relative power band in seven frequency bands. The TD group displayed significantly rightward lateralized brain oscillations in the theta-1 frequency bands compared to the ASD group. This is the first study to demonstrate unusual brain lateralization of brain oscillations measured by magnetoencephalography in young children with ASD. © 2014 The Authors. Psychiatry and Clinical Neurosciences © 2014 Japanese Society of Psychiatry and Neurology.

The clavicle: Normal and abnormal

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

Kumar, R.; Madewell, J.E.; Swischuk, L.E.

1989-07-01

The clavicle is an unusual long bone with many unique embryologic features. It is often involved in congenital and acquired disorders. Traumatic, inflammatory, neoplastic, metabolic and many other miscellaneous lesions may also affect the bone. Because of its ligamentous attachments and the presence of articulations at both ends, the clavicle can also be involved in arthritic diseases. This article illustrates the radiographic manifestations of many of the disorders of the clavicle that are commonly encountered in clinical practice.

The Young Offender.

ERIC Educational Resources Information Center

MacLeod, Hinson

1979-01-01

Looks at delinquency from the viewpoint of a training school chaplain and outlines factors believed to contribute to the development of delinquent behavior. Signs of maladjustment include overactivity, acute anxiety and fear, depression, psychosomatic disorders, unusual behavior, negative attitudes toward others and themselves, and resistance to…

Low-level laser (light) therapy (LLLT) in skin: stimulating, healing, restoring

PubMed Central

Avci, Pinar; Gupta, Asheesh; Sadasivam, Magesh; Vecchio, Daniela; Pam, Zeev; Pam, Nadav; Hamblin, Michael R

2013-01-01

Low-level laser (light) therapy (LLLT) is a fast-growing technology used to treat a multitude of conditions that require stimulation of healing, relief of pain and inflammation, and restoration of function. Although the skin is the organ that is naturally exposed to light more than any other organ, it still responds well to red and near-infrared wavelengths. The photons are absorbed by mitochondrial chromophores in skin cells. Consequently electron transport, adenosine triphosphate (ATP) nitric oxide release, blood flow, reactive oxygen species increase and diverse signaling pathways get activated. Stem cells can be activated allowing increased tissue repair and healing. In dermatology, LLLT has beneficial effects on wrinkles, acne scars, hypertrophic scars, and healing of burns. LLLT can reduce UV damage both as a treatment and as a prophylaxis. In pigmentary disorders such as vitiligo, LLLT can increase pigmentation by stimulating melanocyte proliferation and reduce depigmentation by inhibiting autoimmunity. Inflammatory diseases such as psoriasis and acne can also benefit. The non-invasive nature and almost complete absence of side-effects encourages further testing in dermatology. PMID:24049929

Tyrosinase inhibitory flavonoid from Juniperus communis fruits.

PubMed

Jegal, Jonghwan; Park, Sang-A; Chung, KiWung; Chung, Hae Young; Lee, Jaewon; Jeong, Eun Ju; Kim, Ki Hyun; Yang, Min Hye

2016-12-01

The fruits of Juniperus communis have been traditionally used in the treatment of skin diseases. In our preliminary experiment, the MeOH extract of J. communis effectively suppressed mushroom tyrosinase activity. Three monoflavonoids and five biflavonoids were isolated from J. communis by bioassay-guided isolation and their inhibitory effect against tyrosinase was evaluated. According to the results of all isolates, hypolaetin 7-O-β-xylopyranoside isolated from J. communis exhibited most potent effect of decreasing mushroom tyrosinase activity with an IC 50 value of 45.15 μM. Further study provided direct experimental evidence for hypolaetin 7-O-β-D-xylopyranoside-attenuated tyrosinase activity in α-MSH-stimulated B16F10 murine melanoma cell. Hypolaetin 7-O-β-D-xylopyranoside from the EtOAc fraction of J. communis was also effective at suppressing α-MSH-induced melanin synthesis. This is the first report of the enzyme tyrosinase inhibition by J. communis and its constituent. Therapeutic attempts with J. communis and its active component, hypolaetin 7-O-β-D-xylopyranoside, might be useful in treating melanin pigmentary disorders.

Management of hyperpigmentation in darker racial ethnic groups.

PubMed

Grimes, Pearl E

2009-06-01

Dyschromias, in particular hyperpigmentation, are major issues of concern for people of color. Pigmentary disorders such as melasma and postinflammatory hyperpigmentation (PIH) can cause psychological and emotional distress and can pose a negative impact on a person's health-related quality of life. The precise etiology of these conditions is unknown. Therapies for melasma and PIH target various points during the cycle of melanin production and degradation. Therapies for these conditions include topical agents and resurfacing procedures. Hydroquinone remains the gold standard of topical agents. Other efficacious agents include kojic acid, azelaic acid, mequinol, and retinoids. Cosmeceutical agents include licorice, arbutin, soy, N-acetyl glucosamine, and niacinamide. Resurfacing procedures that have been used to treat melasma and PIH include chemical peels, microdermabrasion, lasers, and intense pulsed light. These procedures are best used in combination with topical bleaching agents. Given the propensity of darker skin to hyperpigment, resurfacing procedures should be used with care and caution. Maximal results are best achieved with repetitive, superficial, resurfacing modalities. In addition, ultraviolet protective measures such as broad-spectrum sunscreens are fundamental to the successful management of these conditions.

Tolerance and safety of superficial chemical peeling with salicylic acid in various facial dermatoses.

PubMed

Bari, Arfan Ul; Iqbal, Zafar; Rahman, Simeen Ber

2005-01-01

Chemical peeling is a skin-wounding procedure that may have some potentially undesirable side-effects. The present study is directed towards safety concerns associated with superficial chemical peeling with salicylic acid in various facial dermatoses. The study was a non-comparative and a prospective one. Two hundred and sixty-eight patients of either sex, aged between 10 to 60 years, undergoing superficial chemical peeling for various facial dermatoses (melasma, acne vulgaris, freckles, post-inflammatory scars/pigmentation, actinic keratoses, plane facial warts, etc.) were included in the study. Eight weekly peeling sessions were carried out in each patient. Tolerance to the procedure and any undesirable effects noted during these sessions were recorded. Almost all the patients tolerated the procedure well. Mild discomfort, burning, irritation and erythema were quite common but the incidence of major side-effects was very low and these too, were easily manageable. There was no significant difference in the incidence of side-effects between facial dermatoses (melasma, acne and other pigmentary disorders). Chemical peeling with salicylic acid is a well tolerated and safe treatment modality in many superficial facial dermatoses.

Chemical peeling in ethnic/dark skin.

PubMed

Roberts, Wendy E

2004-01-01

Chemical peeling for skin of color arose in ancient Egypt, Mesopotamia, and other ancient cultures in and around Africa. Our current fund of medical knowledge regarding chemical peeling is a result of centuries of experience and research. The list of agents for chemical peeling is extensive. In ethnic skin, our efforts are focused on superficial and medium-depth peeling agents and techniques. Indications for chemical peeling in darker skin include acne vulgaris, postinflammatory hyperpigmentation, melasma, scarring, photodamage, and pseudofolliculitis barbae. Careful selection of patients for chemical peeling should involve not only identification of Fitzpatrick skin type, but also determining ethnicity. Different ethnicities may respond unpredictably to chemical peeling regardless of skin phenotype. Familiarity with the properties each peeling agent used is critical. New techniques discussed for chemical peeling include spot peeling for postinflammatory hyperpigmentation and combination peels for acne and photodamage. Single- or combination-agent chemical peels are shown to be efficacious and safe. In conclusion, chemical peeling is a treatment of choice for numerous pigmentary and scarring disorders arising in dark skin tones. Familiarity with new peeling agents and techniques will lead to successful outcomes.

Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2.

PubMed

Baral, Viviane; Chaoui, Asma; Watanabe, Yuli; Goossens, Michel; Attie-Bitach, Tania; Marlin, Sandrine; Pingault, Veronique; Bondurand, Nadege

2012-01-01

Waardenburg syndrome (WS) is a rare auditory-pigmentary disorder that exhibits varying combinations of sensorineural hearing loss and pigmentation defects. Four subtypes are clinically defined based on the presence or absence of additional symptoms. WS type 2 (WS2) can result from mutations within the MITF or SOX10 genes; however, 70% of WS2 cases remain unexplained at the molecular level, suggesting that other genes might be involved and/or that mutations within the known genes escaped previous screenings. The recent identification of a deletion encompassing three of the SOX10 regulatory elements in a patient presenting with another WS subtype, WS4, defined by its association with Hirschsprung disease, led us to search for deletions and point mutations within the MITF and SOX10 regulatory elements in 28 yet unexplained WS2 cases. Two nucleotide variations were identified: one in close proximity to the MITF distal enhancer (MDE) and one within the U1 SOX10 enhancer. Functional analyses argued against a pathogenic effect of these variations, suggesting that mutations within regulatory elements of WS genes are not a major cause of this neurocristopathy.

A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4.

PubMed

Wang, Xiong; Zhu, Yaowu; Shen, Na; Peng, Jing; Wang, Chunyu; Liu, Haiyi; Lu, Yanjun

2017-01-27

Waardenburg syndrome type 4 (WS4) or Waardenburg-Shah syndrome is a rare genetic disorder with a prevalence of <1/1,000,000 and characterized by the association of congenital sensorineural hearing loss, pigmentary abnormalities, and intestinal aganglionosis. There are three types of WS4 (WS4A-C) caused by mutations in endothelin receptor type B, endothelin 3, and SRY-box 10 (SOX10), respectively. This study investigated a genetic mutation in a Chinese family with one WS4 patient in order to improve genetic counselling. Genomic DNA was extracted, and mutation analysis of the three WS4 related genes was performed using Sanger sequencing. We detected a de novo heterozygous deletion mutation [c.1333delT (p.Ser445Glnfs*57)] in SOX10 in the patient; however, this mutation was absent in the unaffected parents and 40 ethnicity matched healthy controls. Subsequent phylogenetic analysis and three-dimensional modelling of the SOX10 protein confirmed that the c.1333delT heterozygous mutation was pathogenic, indicating that this mutation might constitute a candidate disease-causing mutation.

A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4

PubMed Central

Wang, Xiong; Zhu, Yaowu; Shen, Na; Peng, Jing; Wang, Chunyu; Liu, Haiyi; Lu, Yanjun

2017-01-01

Waardenburg syndrome type 4 (WS4) or Waardenburg-Shah syndrome is a rare genetic disorder with a prevalence of <1/1,000,000 and characterized by the association of congenital sensorineural hearing loss, pigmentary abnormalities, and intestinal aganglionosis. There are three types of WS4 (WS4A–C) caused by mutations in endothelin receptor type B, endothelin 3, and SRY-box 10 (SOX10), respectively. This study investigated a genetic mutation in a Chinese family with one WS4 patient in order to improve genetic counselling. Genomic DNA was extracted, and mutation analysis of the three WS4 related genes was performed using Sanger sequencing. We detected a de novo heterozygous deletion mutation [c.1333delT (p.Ser445Glnfs*57)] in SOX10 in the patient; however, this mutation was absent in the unaffected parents and 40 ethnicity matched healthy controls. Subsequent phylogenetic analysis and three-dimensional modelling of the SOX10 protein confirmed that the c.1333delT heterozygous mutation was pathogenic, indicating that this mutation might constitute a candidate disease-causing mutation. PMID:28128317

Comprehensive dental management in a Hallermann-Streiff syndrome patient with unusual radiographic appearance of teeth.

PubMed

Gungor, O Erken; Nur, B Guzel; Yalcin, H; Karayilmaz, H; Mihci, E

2015-01-01

Hallermann-Streiff syndrome (HSS) is a genetic disorder characterized by proportionate dwarfism, birdlike facies, hypotrichosis, skin atrophy, dyscephaly, bilateral microphthalmia, congenital cataracts, a narrow, weak, beaked nose, a hypoplastic mandible, and orodental anomalies. Occurrence is sporadic and distinct patterns of inheritance have not been found. This case report describes the dental management of a 3-year-old girl patient with HSS, who had unusual radiographic appearance of teeth. Furthermore, dental treatments and a 30-month follow-up period of the patient with this rare tooth structure malformation have been presented.

The Effects of Gx, Gy and Gz Forces on Cone Mesopic Vision

DTIC Science & Technology

1983-10-01

Vitamin A transport or storage deficiencies - liver disease, protein malnutrition, tuberculosis 4. Disease states - retinitis pigmentosa , albinism, corneal...illnesses. retinitis pigmentosa -- Progressive atrophy of the retinal neuroep.thelium with pigmentary infiltration of the inner layers. retinopathy...Cardiovascular conditioning ..... ............... ... 35 Retinal blood supply ........ .................. ... 35 Head Movement

Munchausen's Syndrome and Other Factitious Disorders in Children

PubMed Central

Jaghab, Kamil; Skodnek, Kenneth B.

2006-01-01

There has been increasing recognition in the pediatric literature for the past 20 years that illness falsification by caregivers must be included in the differential diagnosis of children presenting with persistent, unexplained symptoms or laboratory findings. However, there is considerably less awareness that pediatric symptoms can also be intentionally falsified by child and adolescent patients, and this unique group has remained virtually invisible. There have been reports that many children with factitious disorders also suffer from other mental disorders, particularly personality disorders. We report an unusual case of Munchausen's syndrome in a 15-year-old patient with sickle cell disease. We also review other reported pediatric factitious disorders in literature. Our purpose is to make clinicians aware of this less known disorder in children and to discuss the similarities and differences these disorders have in children compared to adults with the same disorders. PMID:21103164

Two interesting cases highlighting an oblivious specialty of psychoneuroendocrinology.

PubMed

Hari Kumar, K V S; Dhull, Pawan; Somasekharan, Manoj; Seshadri, K

2012-01-01

Psychoneuroendocrinology deals with the overlap disorders pertaining to three different specialties. Awareness about the somatic manifestations of psychiatric diseases and vice versa is a must for all the clinicians. The knowledge of this interlinked specialty is essential because of the obscure presentation of certain disorders. Our first case was treated as depressive disorder, whereas the diagnosis was hypogonadism with empty sella. Our second patient was managed as schizophrenia and the evaluation revealed bilateral basal ganglia calcification and a diagnosis of Fahr's disease. We report these cases for their unusual presentation and to highlight the importance of this emerging specialty.

Translational animal models of autism and neurodevelopmental disorders.

PubMed

Crawley, Jacqueline N

2012-09-01

Autism is a neurodevelopmental disorder whose diagnosis is based on three behavioral criteria: unusual reciprocal social interactions, deficits in communication, and stereotyped repetitive behaviors with restricted interests. A large number of de novo single gene mutations and chromosomal deletions are associated with autism spectrum disorders. Based on the strong genetic evidence, mice with targeted mutations in homologous genes have been generated as translational research tools. Mouse models of autism have revealed behavioral and biological outcomes of mutations in risk genes. The field is now poised to employ the most robust phenotypes in the most replicable mouse models for preclinical screening of novel therapeutics.

Paroxysmal myoclonic dystonia with vocalisations: new entity or variant of preexisting syndromes?

PubMed Central

Feinberg, T E; Shapiro, A K; Shapiro, E

1986-01-01

From among 1377 patients with movement disorders, four patients had an unusual movement disorder characterised by paroxysmal bursts of involuntary, regular, repetitive, rhythmic, bilateral, coordinated, simultaneous, stereotypic myoclonus and vocalisations, often associated with tonic symptoms, interference with voluntary functioning, presence of hyperactivity, attention and learning disabilities, and resistance to treatment with haloperidol and other drugs. This symptom complex may represent a new disease entity, referred to here as paroxysmal myoclonic dystonia with vocalisations or a variant or combination of other movement disorders such as Gilles de la Tourette, myoclonic, or dystonic syndromes. PMID:3457101

Pseudologia Fantastica in the Emergency Department: A Case Report and Review of the Literature

PubMed Central

Teslyar, Polina; Friedman, Rohn

2017-01-01

Psychiatrists commonly encounter deception in the emergency department. This article presents the case of a patient who presents to the emergency department with an unusual and elaborate web of deceptions along multiple themes including feigning medical illness, multiple losses, and grandiose academic and athletic achievements. We review the clinical characteristics of pseudologia fantastica and discuss how this patient's constellation of malingering, factitious disorder, and personality disorder suggests this diagnosis. PMID:28573061

An unusual cause of gynaecomastia.

PubMed

Subbiah, Sridhar; Walia, Rama; Kumar, Santhosh; Nahar, Uma; Bhansali, Anil

2011-07-20

Gynaecomastia in adolescents and young adults is a common endocrine disorder with usually benign aetiology. However, gynaecomastia in middle-aged men is uncommon and warrants intensive search to unravel its aetiology. The authors report a 42-year-old male who presented with gynaecomastia due to feminising adrenocortical carcinoma.

Extreme metabolic alkalosis with fludrocortisone therapy.

PubMed Central

Burns, A.; Brown, T. M.; Semple, P.

1983-01-01

We present an unusual case of extreme metabolic alkalosis resulting from severe hypokalaemia caused by unmonitored fludrocortisone therapy. Biochemical aspects of the disorder are discussed, as is the successful treatment with diuretics and potassium replacement. Some dangers of this therapy and necessary precautions are emphasized. PMID:6622340

An unusual autopsy case of lethal hypothermia exacerbated by body lice-induced severe anemia.

PubMed

Nara, Akina; Nagai, Hisashi; Yamaguchi, Rutsuko; Makino, Yohsuke; Chiba, Fumiko; Yoshida, Ken-ichi; Yajima, Daisuke; Iwase, Hirotaro

2016-05-01

Pediculus humanus humanus (known as body lice) are commonly found in the folds of clothes, and can cause skin disorders when they feed on human blood, resulting in an itching sensation. Body lice are known as vectors of infectious diseases, including typhus, recurrent fever, and trench fever. An infestation with blood-sucking body lice induces severe cutaneous pruritus, and this skin disorder is known as "vagabond's disease." A body lice infestation is sometimes complicated with iron deficiency anemia. In the present case, a man in his late 70s died of lethal hypothermia in the outdoors during the winter season. The case history and autopsy findings revealed that the cause of the lethal hypothermia was iron deficiency anemia, which was associated with a prolonged infestation of blood-sucking body lice. Also, he had vagabond's disease because the skin on his body was abnormal and highly pigmented. This is an unusual autopsy case since the body lice contributed to the cause of the death.

The Risk and Clinical and Molecular Characteristics of Breast Cancer in Women with Neurofibromatosis Type 1

DTIC Science & Technology

2013-10-01

of NF1: Pigmentary changes on skin and eyes (café au lait spots and Lisch nodules), bony dysplasia, scoliosis , short stature, macrocephaly, learning...17 7 Lisch nodules 106 44 Plexiform neurofibroma (PN) 57 23.5 Learning disability (LD) 86 35.5 Vasculopathy 97 40 Scoliosis 72

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

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.

Gene mapping of the Usher syndromes.

PubMed

Kimberling, W; Smith, R J

1992-10-01

USH is an autosomal recessive group of diseases characterized by auditory impairment and visual loss owing to RP. Two common types of USH are known, types I and II. USH type I is characterized by a congenital severe to profound hearing impairment, absent vestibular function, and a progressive pigmentary retinopathy. Persons with type I do not find hearing aids useful, have delayed motor development, and experience progressive night blindness and peripheral visual loss, which usually begins in their second decade. USH type II is characterized by a congenital moderate to severe hearing loss with a down-sloping audiogram, normal vestibular function, and a progressive pigmentary retinopathy. Persons with USH2 find hearing aids beneficial, have normal psychomotor development, and experience progressive night blindness and peripheral visual loss, which usually begins in their third decade. Vestibular dysfunction is the best distinguishing hallmark to differentiate USH type I from type II. One USH type II gene (called USH2) has been assigned to chromosome 1q. One USH type I gene has been tentatively assigned to chromosome 14q. There are other USH genes that have not yet been localized.

Understanding the autistic dental patient.

PubMed

Green, Danielle; Flanagan, Dennis

2008-01-01

Autism spectrum disorder (ASD) is one of many pervasive developmental disorders (PDD); others include Rett syndrome, childhood disintegrative disorder (also known as Heller's syndrome), pervasive developmental disorder not otherwise specified (PDD-NOS), and the higher functioning Asperger's syndrome. Because ASD is the most common of the developmental disabilities, it is not unusual for dentists to have ASD patients among their patient population. As the name indicates, ASD varies widely in its clinical manifestations; however, dentists are likely to encounter difficulties with communication and socialization. Although communication may be difficult, it is not impossible. A thorough understanding of this complex neurological disorder and displaying patience are vital for the dentist. This article seeks to familiarize readers with ASD characteristics and co-morbid conditions that may affect dental treatment and provide some management strategies for this unique population.

Platysmal myoclonus in subclinical hyperthyroidism.

PubMed

Teoh, Hock-Luen; Lim, Erle Chuen-Hian

2005-08-01

Hyperthyroidism is associated with various movement disorders, such as chorea and tremors. We report on a young Chinese woman with an unusual presentation of myoclonus, involving both platysmal muscles, in association with subclinical hyperthyroidism. The myoclonus was preceded by symptoms of hyperthyroidism, namely weight loss, menstrual disturbances, and heat intolerance. The movements abated with clonazepam and hyperthyroidism was treated with carbimazole. The myoclonus recurred briefly when she stopped taking clonazepam, but she has since remained well and euthyroid. Copyright 2005 Movement Disorder Society

Classical and unusual imaging appearances of melorheostosis.

PubMed

Suresh, S; Muthukumar, T; Saifuddin, A

2010-08-01

This comprehensive review will discuss the classical and unusual radiological features of melorheostosis, which is an uncommon, non-hereditary, benign, sclerosing mesodermal disease with an incidence of 0.9 cases per million. The presentation of melorheostosis in the appendicular skeleton (more commonly involved) and in the axial skeleton (very few documented case reports) will be discussed. The aim of the review is to illustrate the associations and rare, but recognized, complications of the disorder. The role of cross-sectional imaging in the form of magnetic resonance imaging (MRI) and computed tomography (CT) in revealing the spectrum of disease manifestation and differentiation from other disease entities and malignancy will be explored.

The trigeminal trophic syndrome: an unusual cause of nasal ulceration.

PubMed

Monrad, Seetha U; Terrell, Jeffrey E; Aronoff, David M

2004-06-01

Trigeminal trophic syndrome (TTS) is an unusual complication after peripheral or central damage to the trigeminal nerve, characterized by anesthesia, paresthesias, and ala nasi ulceration. We describe a patient with classic TTS after trigeminal rhizotomy who underwent several extensive evaluations for nasal ulceration and received prolonged immunosuppressive therapy for a presumed autoimmune disorder before the correct diagnosis was made. An understanding of the predisposing factors and clinical presentation of TTS is important to ensure a timely diagnosis of this difficult-to-treat illness. Differentiation of TTS from malignancy, infection, or vasculitis is possible on the basis of clinical history, tissue biopsy, and serologic evaluation.

Oral Rehabilitation for Amniotic Band Syndrome: An Unusual Presentation

PubMed Central

Sharma, Krishna

2015-01-01

ABSTRACT Amniotic band syndrome (ABS) is a congenital disorder caused by entrapment of fetal parts in fibrous amniotic bands while in utero. The syndrome is underdiagnosed and its presentation is variable. The syndrome has been well described in the pediatric, orthopedic and obstetric literature; however, despite the discernable craniomaxillofacial involvement, ABS has not been reported in the dental literature very often. The present report describes a case of a patient with ABS and concomitant dental findings. How to cite this article: Hotwani K, Sharma K. Oral Rehabilitation for Amniotic Band Syndrome: An Unusual Presentation. Int J Clin Pediatr Dent 2015;8(1):55-57. PMID:26124582

Oral Rehabilitation for Amniotic Band Syndrome: An Unusual Presentation.

PubMed

Hotwani, Kavita; Sharma, Krishna

2015-01-01

Amniotic band syndrome (ABS) is a congenital disorder caused by entrapment of fetal parts in fibrous amniotic bands while in utero. The syndrome is underdiagnosed and its presentation is variable. The syndrome has been well described in the pediatric, orthopedic and obstetric literature; however, despite the discernable craniomaxillofacial involvement, ABS has not been reported in the dental literature very often. The present report describes a case of a patient with ABS and concomitant dental findings. How to cite this article: Hotwani K, Sharma K. Oral Rehabilitation for Amniotic Band Syndrome: An Unusual Presentation. Int J Clin Pediatr Dent 2015;8(1):55-57.

An unusual cause of gynaecomastia

PubMed Central

Subbiah, Sridhar; Walia, Rama; Kumar, Santhosh; Nahar, Uma; Bhansali, Anil

2011-01-01

Gynaecomastia in adolescents and young adults is a common endocrine disorder with usually benign aetiology. However, gynaecomastia in middle-aged men is uncommon and warrants intensive search to unravel its aetiology. The authors report a 42-year-old male who presented with gynaecomastia due to feminising adrenocortical carcinoma. PMID:22689603

Understanding Williams Syndrome: Behavioral Patterns and Interventions.

ERIC Educational Resources Information Center

Semel, Eleanor; Rosner, Sue R.

This guide to Williams syndrome (WS), a congenital disorder characterized by developmental/cognitive limitations but relatively high verbal and social skills, explains the strengths, difficulties and variations found among individuals with the condition and offers guidelines for intervention in the unusual properties of the WS behavioral profile.…

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

PubMed

Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary-Alice; Atkin, Joan; Babovic-Vuksanovic, Dusica; Barnett, Christopher P; Crenshaw, Melissa; Bartholomew, Dennis W; Basel, Lina; Bellus, Gary; Ben-Shachar, Shay; Bialer, Martin G; Bick, David; Blumberg, Bruce; Cortes, Fanny; David, Karen L; Destree, Anne; Duat-Rodriguez, Anna; Earl, Dawn; Escobar, Luis; Eswara, Marthanda; Ezquieta, Begona; Frayling, Ian M; Frydman, Moshe; Gardner, Kathy; Gripp, Karen W; Hernández-Chico, Concepcion; Heyrman, Kurt; Ibrahim, Jennifer; Janssens, Sandra; Keena, Beth A; Llano-Rivas, Isabel; Leppig, Kathy; McDonald, Marie; Misra, Vinod K; Mulbury, Jennifer; Narayanan, Vinodh; Orenstein, Naama; Galvin-Parton, Patricia; Pedro, Helio; Pivnick, Eniko K; Powell, Cynthia M; Randolph, Linda; Raskin, Salmo; Rosell, Jordi; Rubin, Karol; Seashore, Margretta; Schaaf, Christian P; Scheuerle, Angela; Schultz, Meredith; Schorry, Elizabeth; Schnur, Rhonda; Siqveland, Elizabeth; Tkachuk, Amanda; Tonsgard, James; Upadhyaya, Meena; Verma, Ishwar C; Wallace, Stephanie; Williams, Charles; Zackai, Elaine; Zonana, Jonathan; Lazaro, Conxi; Claes, Kathleen; Korf, Bruce; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine

2015-11-01

Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype-phenotype correlations is challenging because of the wide range clinical variability, the progressive nature of the disorder, and extreme diversity of the mutational spectrum. We report 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations affecting p.Arg1809. Patients presented with multiple café-au-lait macules (CALM) with or without freckling and Lisch nodules, but no externally visible plexiform neurofibromas or clear cutaneous neurofibromas were found. About 25% of the individuals had Noonan-like features. Pulmonic stenosis and short stature were significantly more prevalent compared with classic cohorts (P < 0.0001). Developmental delays and/or learning disabilities were reported in over 50% of patients. Melanocytes cultured from a CALM in a segmental NF1-patient showed two different somatic NF1 mutations, p.Arg1809Cys and a multi-exon deletion, providing genetic evidence that p.Arg1809Cys is a loss-of-function mutation in the melanocytes and causes a pigmentary phenotype. Constitutional missense mutations at p.Arg1809 affect 1.23% of unrelated NF1 probands in the UAB cohort, therefore this specific NF1 genotype-phenotype correlation will affect counseling and management of a significant number of patients. © 2015 The Authors. **Human Mutation published by Wiley Periodicals, Inc.

[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.

Translational animal models of autism and neurodevelopmental disorders

PubMed Central

Crawley, Jacqueline N.

2012-01-01

Autism is a neurodevelopmental disorder whose diagnosis is based on three behavioral criteria: unusual reciprocal social interactions, deficits in communication, and stereotyped repetitive behaviors with restricted interests. A large number of de novo single gene mutations and chromosomal deletions are associated with autism spectrum disorders. Based on the strong genetic evidence, mice with targeted mutations in homologous genes have been generated as translational research tools. Mouse models of autism have revealed behavioral and biological outcomes of mutations in risk genes. The field is now poised to employ the most robust phenotypes in the most replicable mouse models for preclinical screening of novel therapeutics. PMID:23226954

Elephantine but not elephantiasis: Subcutaneous zygomycosis.

PubMed

Girish, Meenakshi; Arora, Amit; Bhalla, Lucky; Salodkar, Atul

2011-09-01

Subcutaneous zygomycosis is an unusual disorder caused by a rare fungus, Basidiobolus ranarum. We report this entity in a 4- yr- old boy. Biopsy showed the Splendore Hoeppli phenomenon and the culture yielded Basidiobolus ranarum. The child responded to saturated solution of potassium iodide within 1 month of starting treatment.

44 CFR 15.7 - Disturbances.

Code of Federal Regulations, 2012 CFR

2012-10-01

... SECURITY GENERAL CONDUCT AT THE MT. WEATHER EMERGENCY ASSISTANCE CENTER AND AT THE NATIONAL EMERGENCY TRAINING CENTER § 15.7 Disturbances. At both Mt. Weather and NETC we prohibit any unwarranted loitering, disorderly conduct, or other conduct at Mt. Weather and NETC that: (a) Creates loud or unusual noise or a...

44 CFR 15.7 - Disturbances.

Code of Federal Regulations, 2011 CFR

2011-10-01

... SECURITY GENERAL CONDUCT AT THE MT. WEATHER EMERGENCY ASSISTANCE CENTER AND AT THE NATIONAL EMERGENCY TRAINING CENTER § 15.7 Disturbances. At both Mt. Weather and NETC we prohibit any unwarranted loitering, disorderly conduct, or other conduct at Mt. Weather and NETC that: (a) Creates loud or unusual noise or a...

44 CFR 15.7 - Disturbances.

Code of Federal Regulations, 2013 CFR

2013-10-01

... SECURITY GENERAL CONDUCT AT THE MT. WEATHER EMERGENCY ASSISTANCE CENTER AND AT THE NATIONAL EMERGENCY TRAINING CENTER § 15.7 Disturbances. At both Mt. Weather and NETC we prohibit any unwarranted loitering, disorderly conduct, or other conduct at Mt. Weather and NETC that: (a) Creates loud or unusual noise or a...

44 CFR 15.7 - Disturbances.

Code of Federal Regulations, 2010 CFR

2010-10-01

... SECURITY GENERAL CONDUCT AT THE MT. WEATHER EMERGENCY ASSISTANCE CENTER AND AT THE NATIONAL EMERGENCY TRAINING CENTER § 15.7 Disturbances. At both Mt. Weather and NETC we prohibit any unwarranted loitering, disorderly conduct, or other conduct at Mt. Weather and NETC that: (a) Creates loud or unusual noise or a...

44 CFR 15.7 - Disturbances.

Code of Federal Regulations, 2014 CFR

2014-10-01

... SECURITY GENERAL CONDUCT AT THE MT. WEATHER EMERGENCY ASSISTANCE CENTER AND AT THE NATIONAL EMERGENCY TRAINING CENTER § 15.7 Disturbances. At both Mt. Weather and NETC we prohibit any unwarranted loitering, disorderly conduct, or other conduct at Mt. Weather and NETC that: (a) Creates loud or unusual noise or a...

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.

A family with unusual Waardenburg syndrome type I (WSI), cleft lip (palate), and Hirschsprung disease is not linked to PAX 3.

PubMed

Pierpont, J W; St Jacques, D; Seaver, L H; Erickson, R P

1995-03-01

An unusual family with Waardenburg syndrome type 1 (WSI), cleft lip (palate), and Hirschsprung disease is not linked to the PAX 3 gene since there is an obligate crossover which has occurred between PAX 3 DNA markers and the disorder in this family. This family may also have anticipation of the WSI traits as the proband's grandmother is nonpenetrant, his mother has dystopia canthorum, and severe cleft lip (palate), while the proband has dystopia canthorum, severe cleft lip (palate), and Hirschsprung disease. Thus, a locus other than PAX 3 is implicated in this Waardenburg-like syndrome with Hirschsprung disease and cleft lip (palate).

Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome.

PubMed

Lee, Mi Ji; Kim, Byung Young; Ma, Jae Sook; Choi, Young Earl; Kim, Young Ok; Cho, Hwa Jin; Kim, Chan Jong

2016-11-01

Noonan syndrome is an autosomal dominant, multisystem disorder. Autoimmune thyroiditis with hypothyroidism is an infrequent feature in patients with Noonan syndrome. A 16-year-old boy was admitted because of chest discomfort and dyspnea; an echocardiogram revealed pericardial effusion. Additional investigations led to a diagnosis of severe hypothyroidism due to Hashimoto thyroiditis. The patient was treated with L-thyroxine at 0.15 mg daily. However, during admission, he developed symptoms of cardiac tamponade. Closed pericardiostomy was performed, after which the patient's chest discomfort improved, and his vital signs stabilized. Herein, we report a case of an adolescent with Noonan syndrome, who was diagnosed with Hashimoto thyroiditis with an unusual presentation of cardiac tamponade.

Dual cases of type 1 narcolepsy with schizophrenia and other psychotic disorders.

PubMed

Canellas, Francesca; Lin, Ling; Julià, Maria Rosa; Clemente, Antonio; Vives-Bauza, Cristofol; Ollila, Hanna M; Hong, Seung Chul; Arboleya, Susana M; Einen, Mali A; Faraco, Juliette; Fernandez-Vina, Marcelo; Mignot, Emmanuel

2014-09-15

Cases of narcolepsy in association with psychotic features have been reported but never fully characterized. These patients present diagnostic and treatment challenges and may shed new light on immune associations in schizophrenia. Our case series was gathered at two narcolepsy specialty centers over a 9-year period. A questionnaire was created to improve diagnosis of schizophrenia or another psychotic disorder in patients with narcolepsy. Pathophysiological investigations included full HLA Class I and II typing, testing for known systemic and intracellular/synaptic neuronal antibodies, recently described neuronal surface antibodies, and immunocytochemistry on brain sections to detect new antigens. Ten cases were identified, one with schizoaffective disorder, one with delusional disorder, two with schizophreniform disorder, and 6 with schizophrenia. In all cases, narcolepsy manifested first in childhood or adolescence, followed by psychotic symptoms after a variable interval. These patients had auditory hallucinations, which was the most differentiating clinical feature in comparison to narcolepsy patients without psychosis. Narcolepsy therapy may have played a role in triggering psychotic symptoms but these did not reverse with changes in narcolepsy medications. Response to antipsychotic treatment was variable. Pathophysiological studies did not reveal any known autoantibodies or unusual brain immunostaining pattern. No strong HLA association outside of HLA DQB1*06:02 was found, although increased DRB3*03 and DPA1*02:01 was notable. Narcolepsy can occur in association with schizophrenia, with significant diagnostic and therapeutic challenges. Dual cases maybe under diagnosed, as onset is unusually early, often in childhood. Narcolepsy and psychosis may share an autoimmune pathology; thus, further investigations in larger samples are warranted. © 2014 American Academy of Sleep Medicine.

UV Radiation and the Skin

PubMed Central

D’Orazio, John; Jarrett, Stuart; Amaro-Ortiz, Alexandra; Scott, Timothy

2013-01-01

UV radiation (UV) is classified as a “complete carcinogen” because it is both a mutagen and a non-specific damaging agent and has properties of both a tumor initiator and a tumor promoter. In environmental abundance, UV is the most important modifiable risk factor for skin cancer and many other environmentally-influenced skin disorders. However, UV also benefits human health by mediating natural synthesis of vitamin D and endorphins in the skin, therefore UV has complex and mixed effects on human health. Nonetheless, excessive exposure to UV carries profound health risks, including atrophy, pigmentary changes, wrinkling and malignancy. UV is epidemiologically and molecularly linked to the three most common types of skin cancer, basal cell carcinoma, squamous cell carcinoma and malignant melanoma, which together affect more than a million Americans annually. Genetic factors also influence risk of UV-mediated skin disease. Polymorphisms of the melanocortin 1 receptor (MC1R) gene, in particular, correlate with fairness of skin, UV sensitivity, and enhanced cancer risk. We are interested in developing UV-protective approaches based on a detailed understanding of molecular events that occur after UV exposure, focusing particularly on epidermal melanization and the role of the MC1R in genome maintenance. PMID:23749111

Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family.

PubMed

Lalwani, A K; Attaie, A; Randolph, F T; Deshmukh, D; Wang, C; Mhatre, A; Wilcox, E

1998-12-04

Waardenburg syndrome (WS) is an autosomal-dominant neural crest cell disorder phenotypically characterized by hearing impairment and disturbance of pigmentation. A presence of dystopia canthorum is indicative of WS type 1, caused by loss of function mutation in the PAX3 gene. In contrast, type 2 WS (WS2) is characterized by normally placed medial canthi and is genetically heterogeneous; mutations in MITF (microphthalmia associated transcription factor) associated with WS2 have been identified in some but not all affected families. Here, we report on a three-generation Indian family with a point mutation in the MITF gene causing WS2. This mutation, initially reported in a Northern European family, creates a stop codon in exon 7 and is predicted to result in a truncated protein lacking the HLH-Zip or Zip structure necessary for normal interaction with its target DNA motif. Comparison of the phenotype between the two families demonstrates a significant difference in pigmentary disturbance of the eye. This family, with the first documented case of two unrelated WS2 families harboring identical mutations, provides additional evidence for the importance of genetic background on the clinical phenotype.

Prenatal diagnosis and genetic counseling in a case of spina bifida in a family with Waardenburg syndrome type I.

PubMed

Kujat, Annegret; Veith, Veit-Peter; Faber, Renaldo; Froster, Ursula G

2007-01-01

Waardenburg syndrome type I (WS I) is an autosomal dominant inherited disorder with an incidence of 1:45,000 in Europe. Mutations within the PAX3 gene are responsible for the clinical phenotype ranging from mild facial features to severe malformations detectable in prenatal diagnosis. Here, we report a four-generation family with several affected members showing various symptoms of WS I. We diagnosed the syndrome first in a pregnant young woman; she was referred because of a spina bifida in prenatal diagnosis. We performed clinical genetic investigations and molecular genetic analysis in all available family members. The phenotype displays a wide intra-familial clinical variability of pigmentary disturbances, facial anomalies and developmental defects. Molecular studies identified a novel splice site mutation within the PAX3 gene in intron 5 in all affected family members, but in none of the unaffected relatives. This case demonstrates the prenatal diagnosis of spina bifida in a fetus which leads to the initial diagnosis of WS I. Further studies could identify a private splice site mutation within the PAX3 gene responsible for the phenotype in this family.

Skin bleaching: highlighting the misuse of cutaneous depigmenting agents.

PubMed

Dadzie, O E; Petit, A

2009-07-01

Hydroquinone and other cutaneous depigmenting agents are widely used by dermatologists to treat pigmentary disorders. On 29 August 2006, the US Food and Drug Administration (FDA) published a monograph in the US Federal Register proposing to ban all hydroquinone products that have not been approved via a New Drug Application process. Reports in the scientific literature on the occurrence of exogenous ochronosis, in relation to the use of hydroquinone, was one of the concerns expressed by the FDA in relation to this agent. However, a review of the English-language scientific literature reveals that most of the reported cases of hydroquinone-induced exogenous ochronosis occurs in Africa, where the cultural practice of skin bleaching is highly prevalent. Skin bleaching is the practice of applying hydroquinone and/or other depigmenting agents to specific or widespread areas of the body, the primary function being to lighten normally dark skin. This practice typically occurs in men and women with Fitzpatrick skin phototypes IV to VI. It is a dangerous practice associated with a diverse range of side-effects, including mercury poisoning. Thus, this current discussion within the dermatological community on the safety of hydroquinone provides a unique opportunity to raise awareness about skin bleaching.

Impact of long-wavelength UVA and visible light on melanocompetent skin.

PubMed

Mahmoud, Bassel H; Ruvolo, Eduardo; Hexsel, Camile L; Liu, Yang; Owen, Michael R; Kollias, Nikiforos; Lim, Henry W; Hamzavi, Iltefat H

2010-08-01

The purpose of this study was to determine the effect of visible light on the immediate pigmentation and delayed tanning of melanocompetent skin; the results were compared with those induced by long-wavelength UVA (UVA1). Two electromagnetic radiation sources were used to irradiate the lower back of 20 volunteers with skin types IV-VI: UVA1 (340-400 nm) and visible light (400-700 nm). Pigmentation was assessed by visual examination, digital photography with a cross-polarized filter, and diffused reflectance spectroscopy at 7 time points over a 2-week period. Confocal microscopy and skin biopsies for histopathological examination using different stains were carried out. Irradiation was also carried out on skin type II. Results showed that although both UVA1 and visible light can induce pigmentation in skin types IV-VI, pigmentation induced by visible light was darker and more sustained. No pigmentation was observed in skin type II. The quality and quantity of pigment induced by visible light and UVA1 were different. These findings have potential implications on the management of photoaggravated pigmentary disorders, the proper use of sunscreens, and the treatment of depigmented lesions.

Visible Light Induces Melanogenesis in Human Skin through a Photoadaptive Response.

PubMed

Randhawa, Manpreet; Seo, InSeok; Liebel, Frank; Southall, Michael D; Kollias, Nikiforos; Ruvolo, Eduardo

2015-01-01

Visible light (400-700 nm) lies outside of the spectral range of what photobiologists define as deleterious radiation and as a result few studies have studied the effects of visible light range of wavelengths on skin. This oversight is important considering that during outdoors activities skin is exposed to the full solar spectrum, including visible light, and to multiple exposures at different times and doses. Although the contribution of the UV component of sunlight to skin damage has been established, few studies have examined the effects of non-UV solar radiation on skin physiology in terms of inflammation, and limited information is available regarding the role of visible light on pigmentation. The purpose of this study was to determine the effect of visible light on the pro-pigmentation pathways and melanin formation in skin. Exposure to visible light in ex-vivo and clinical studies demonstrated an induction of pigmentation in skin by visible light. Results showed that a single exposure to visible light induced very little pigmentation whereas multiple exposures with visible light resulted in darker and sustained pigmentation. These findings have potential implications on the management of photo-aggravated pigmentary disorders, the proper use of sunscreens, and the treatment of depigmented lesions.

UV radiation and the skin.

PubMed

D'Orazio, John; Jarrett, Stuart; Amaro-Ortiz, Alexandra; Scott, Timothy

2013-06-07

UV radiation (UV) is classified as a "complete carcinogen" because it is both a mutagen and a non-specific damaging agent and has properties of both a tumor initiator and a tumor promoter. In environmental abundance, UV is the most important modifiable risk factor for skin cancer and many other environmentally-influenced skin disorders. However, UV also benefits human health by mediating natural synthesis of vitamin D and endorphins in the skin, therefore UV has complex and mixed effects on human health. Nonetheless, excessive exposure to UV carries profound health risks, including atrophy, pigmentary changes, wrinkling and malignancy. UV is epidemiologically and molecularly linked to the three most common types of skin cancer, basal cell carcinoma, squamous cell carcinoma and malignant melanoma, which together affect more than a million Americans annually. Genetic factors also influence risk of UV-mediated skin disease. Polymorphisms of the melanocortin 1 receptor (MC1R) gene, in particular, correlate with fairness of skin, UV sensitivity, and enhanced cancer risk. We are interested in developing UV-protective approaches based on a detailed understanding of molecular events that occur after UV exposure, focusing particularly on epidermal melanization and the role of the MC1R in genome maintenance.

The use of ablative lasers in the treatment of facial melasma.

PubMed

Morais, Orlando Oliveira de; Lemos, Érica Freitas Lima; Sousa, Márcia Carolline dos Santos; Gomes, Ciro Martins; Costa, Izelda Maria Carvalho; Paula, Carmen Déa Ribeiro de

2013-01-01

Melasma represents a pigmentary disorder that is difficult to treat. This study aims to broadly review the use of ablative lasers (Er:YAG and CO2) in the treatment of melasma, presenting the level of evidence of studies published to date. A total of 75 patients were enrolled in four case series studies (n=39), one controlled clinical trial (n=6) and one randomized controlled clinical trial (n=30). Studies on the Er:YAG laser showed better results with the use of short square-shaped pulses, which determined low rates of post-inflammatory hyperpigmentation and long-lasting maintenance of results. Likewise, studies on the CO2 laser proved the benefits of short pulse duration along with low-density energy. Post-treatment maintenance with the use of antipigmenting creams was necessary and effective to sustain long-term results. Ablative lasers may represent another useful and effective tool against melasma. Postinflammatory hyperpigmentation and difficulty in sustaining long-term results still represent the main limitations to a broader use of ablative lasers. Based on actual evidence, the use of this technology should be restricted to patients with recalcitrant disease. Further studies will help establish optimal laser parameters and treatment regimens.

Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.

PubMed

Zhou, Xiaolong; Khan, Sikandar G; Tamura, Deborah; Ueda, Takahiro; Boyle, Jennifer; Compe, Emmanuel; Egly, Jean-Marc; DiGiovanna, John J; Kraemer, Kenneth H

2013-08-01

XPD (ERCC2) is a DNA helicase involved in nucleotide excision repair and in transcription as a structural bridge tying the transcription factor IIH (TFIIH) core with the cdk-activating kinase complex, which phosphorylates nuclear receptors. Mutations in XPD are associated with several different phenotypes, including trichothiodystrophy (TTD), with sulfur-deficient brittle hair, bone defects, and developmental abnormalities without skin cancer, xeroderma pigmentosum (XP), with pigmentary abnormalities and increased skin cancer, or XP/TTD with combined features, including skin cancer. We describe the varied clinical features and mutations in nine patients examined at the National Institutes of Health who were compound heterozygotes for XPD mutations but had different clinical phenotypes: four TTD, three XP, and two combined XP/TTD. We studied TFIIH-dependent transactivation by nuclear receptor for vitamin D (VDR) and thyroid in cells from these patients. The vitamin D stimulation ratio of CYP24 and osteopontin was associated with specific pairs of mutations (reduced in 5, elevated in 1) but not correlated with distinct clinical phenotypes. Thyroid receptor stimulation ratio for KLF9 was not significantly different from normal. XPD mutations frequently were associated with abnormal VDR stimulation in compound heterozygote patients with TTD, XP, or XP/TTD.

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.

The use of ablative lasers in the treatment of facial melasma*

PubMed Central

de Morais, Orlando Oliveira; Lemos, Érica Freitas Lima; Sousa, Márcia Carolline dos Santos; Gomes, Ciro Martins; Costa, Izelda Maria Carvalho; de Paula, Carmen Déa Ribeiro

2013-01-01

Melasma represents a pigmentary disorder that is difficult to treat. This study aims to broadly review the use of ablative lasers (Er:YAG and CO2) in the treatment of melasma, presenting the level of evidence of studies published to date. A total of 75 patients were enrolled in four case series studies (n=39), one controlled clinical trial (n=6) and one randomized controlled clinical trial (n=30). Studies on the Er:YAG laser showed better results with the use of short square-shaped pulses, which determined low rates of post-inflammatory hyperpigmentation and long-lasting maintenance of results. Likewise, studies on the CO2 laser proved the benefits of short pulse duration along with low-density energy. Post-treatment maintenance with the use of antipigmenting creams was necessary and effective to sustain long-term results. Ablative lasers may represent another useful and effective tool against melasma. Postinflammatory hyperpigmentation and difficulty in sustaining long-term results still represent the main limitations to a broader use of ablative lasers. Based on actual evidence, the use of this technology should be restricted to patients with recalcitrant disease. Further studies will help establish optimal laser parameters and treatment regimens. PMID:23739704

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.

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.

Combined Jessner Solution and Trichloroacetic Acid Versus Trichloroacetic Acid Alone in the Treatment of Melasma in Dark-Skinned Patients.

PubMed

Abdel-Meguid, Azza M; Taha, Emad A; Ismail, Sahar A

2017-05-01

Melasma is a common challenging pigmentary skin disorder especially in dark-skinned females urging them to seek medical help. Many modalities of treatment are available, but none is satisfactory. To compare safety and efficacy of combined trichloroacetic acid (TCA) (20%-25%) and Jessner's solution versus TCA (20%-25%) alone in dark patients with melasma. The study design was a split face, right-left, assessor-blinded, randomized controlled study. Twenty-four adult female patients (skin phototypes IV-V) with bilateral melasma were treated for 6 sessions at 2 weeks intervals. Clinical assessment of the 2 sides of the face with Melasma Area and Severity Index (MASI) score was performed, and photographs were taken before and after the peeling course. Both therapeutic modalities showed significant decrease in MASI score, which was significantly lower on the side treated with both Jessner solution and TCA. There were significant negative correlations between the percentage of improvement of MASI score and both age of the patients and duration of the melasma. Dark skin melasma can be treated with both regimens safely and effectively; however, combined Jessner solution and TCA is more effective.

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.

Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2

PubMed Central

Baral, Viviane; Chaoui, Asma; Watanabe, Yuli; Goossens, Michel; Attie-Bitach, Tania; Marlin, Sandrine; Pingault, Veronique; Bondurand, Nadege

2012-01-01

Waardenburg syndrome (WS) is a rare auditory-pigmentary disorder that exhibits varying combinations of sensorineural hearing loss and pigmentation defects. Four subtypes are clinically defined based on the presence or absence of additional symptoms. WS type 2 (WS2) can result from mutations within the MITF or SOX10 genes; however, 70% of WS2 cases remain unexplained at the molecular level, suggesting that other genes might be involved and/or that mutations within the known genes escaped previous screenings. The recent identification of a deletion encompassing three of the SOX10 regulatory elements in a patient presenting with another WS subtype, WS4, defined by its association with Hirschsprung disease, led us to search for deletions and point mutations within the MITF and SOX10 regulatory elements in 28 yet unexplained WS2 cases. Two nucleotide variations were identified: one in close proximity to the MITF distal enhancer (MDE) and one within the U1 SOX10 enhancer. Functional analyses argued against a pathogenic effect of these variations, suggesting that mutations within regulatory elements of WS genes are not a major cause of this neurocristopathy. PMID:22848661

Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome.

PubMed

Puvabanditsin, Surasak; Abellar, Rosanna; Madubuko, Adaora; Mehta, Rajeev; Walzer, Lauren

2018-01-01

We report a term male neonate with congenital myeloproliferative disorder, thrombocytopenia, a horseshoe kidney, feeding difficulty secondary to dysphagia/foregut dysmotility, and respiratory failure. Prenatal molecular genetic analysis revealed a fetus carrying c.184T>G (p.Tyr62Asp) pathogenic variant in PTPN11 . The infant eventually succumbed to respiratory failure. Bacterial and viral cultures/studies were all no growth/negative. Pulmonary capillaritis and vasculitis were noted at autopsy. This report presents a new case of Noonan syndrome with unusual associated disorders and a review of the literature.

Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome

PubMed Central

Abellar, Rosanna; Madubuko, Adaora; Mehta, Rajeev

2018-01-01

We report a term male neonate with congenital myeloproliferative disorder, thrombocytopenia, a horseshoe kidney, feeding difficulty secondary to dysphagia/foregut dysmotility, and respiratory failure. Prenatal molecular genetic analysis revealed a fetus carrying c.184T>G (p.Tyr62Asp) pathogenic variant in PTPN11. The infant eventually succumbed to respiratory failure. Bacterial and viral cultures/studies were all no growth/negative. Pulmonary capillaritis and vasculitis were noted at autopsy. This report presents a new case of Noonan syndrome with unusual associated disorders and a review of the literature. PMID:29670795

Inherited disorders in the Afrikaner population of southern Africa. Part I. Historical and demographic background, cardiovascular, neurological, metabolic and intestinal conditions.

PubMed

Botha, M C; Beighton, P

1983-10-08

Certain genetic disorders occur with unusually high frequency in the Afrikaner population of southern Africa. Conditions of this type (reviewed in Part I of this article) include familial hypercholesterolaemia, progressive familial heart block, Huntington's chorea, porphyria variegata, Gaucher's disease, cystic fibrosis and familial colonic polyposis. This genetic situation is explicable to some extent on the basis of the demographic development of the Afrikaner population during the 14 generations since the arrival of the first immigrants from Holland more than 330 years ago.

Brief Report: Autism-Like Traits Are Associated with Enhanced Ability to Disembed Visual Forms

ERIC Educational Resources Information Center

Sabatino DiCriscio, Antoinette; Troiani, Vanessa

2017-01-01

Atypical visual perceptual skills are thought to underlie unusual visual attention in autism spectrum disorders. We assessed whether individual differences in visual processing skills scaled with quantitative traits associated with the broader autism phenotype (BAP). Visual perception was assessed using the Figure-ground subtest of the Test of…

Severity of Hyperacusis Predicts Individual Differences in Speech Perception in Williams Syndrome

ERIC Educational Resources Information Center

Elsabbagh, M.; Cohen, H.; Cohen, M.; Rosen, S.; Karmiloff-Smith, A.

2011-01-01

Background: Williams Syndrome (WS) is a neurodevelopmental disorder of genetic origin, characterised by relative proficiency in language in the face of serious impairment in several other domains. Individuals with WS display an unusual sensitivity to noise, known as hyperacusis. Methods: In this study, we examined the extent to which hyperacusis…

"Helicobacter Pylori" Infection in Five Inpatient Units for People with Intellectual Disability and Psychiatric Disorder

ERIC Educational Resources Information Center

Clarke, David; Vemuri, Murali; Gunatilake, Deepthi; Tewari, Sidhartha

2008-01-01

Background: A high prevalence of "Helicobacter pylori" infection has been reported among people with intellectual disability, especially those residing in hospital and similar settings. Surveys of inpatients have found unusually high rates of gastrointestinal malignancy, to which "H. pylori" infection predisposes. Methods: "Helicobacter pylori"…

Bringing Back the Body: A Retrospective on the Development of Objectification Theory

ERIC Educational Resources Information Center

Fredrickson, Barbara L.; Hendler, Lee Meyerhoff; Nilsen, Stephanie; O'Barr, Jean Fox; Roberts, Tomi-Ann

2011-01-01

In this article, Barbara L. Fredrickson reflects back on two early papers--"Objectification Theory: Toward Understanding Women's Lived Experiences and Mental Health Risks" and "A Mediational Model Linking Self-Objectification, Body Shame, and Disordered Eating"--and puts them into larger context. Both papers share an unusual origin story. To tell…

Schizophrenia and the structure of language: the linguist's view.

PubMed

Covington, Michael A; He, Congzhou; Brown, Cati; Naçi, Lorina; McClain, Jonathan T; Fjordbak, Bess Sirmon; Semple, James; Brown, John

2005-09-01

Patients with schizophrenia often display unusual language impairments. This is a wide ranging critical review of the literature on language in schizophrenia since the 19th century. We survey schizophrenic language level by level, from phonetics through phonology, morphology, syntax, semantics, and pragmatics. There are at least two kinds of impairment (perhaps not fully distinct): thought disorder, or failure to maintain a discourse plan, and schizophasia, comprising various dysphasia-like impairments such as clanging, neologism, and unintelligible utterances. Thought disorder appears to be primarily a disruption of executive function and pragmatics, perhaps with impairment of the syntax-semantics interface; schizophasia involves disruption at other levels. Phonetics is also often abnormal (manifesting as flat intonation or unusual voice quality), but phonological structure, morphology, and syntax are normal or nearly so (some syntactic impairments have been demonstrated). Access to the lexicon is clearly impaired, manifesting as stilted speech, word approximation, and neologism. Clanging (glossomania) is straightforwardly explainable as distraction by self-monitoring. Recent research has begun to relate schizophrenia, which is partly genetic, to the genetic endowment that makes human language possible.

Impact of environment on dynamics of exciton complexes in a WS2 monolayer

NASA Astrophysics Data System (ADS)

Jakubczyk, Tomasz; Nogajewski, Karol; Molas, Maciej R.; Bartos, Miroslav; Langbein, Wolfgang; Potemski, Marek; Kasprzak, Jacek

2018-07-01

Scientific curiosity to uncover original optical properties and functionalities of atomically thin semiconductors, stemming from unusual Coulomb interactions in the two-dimensional geometry and multi-valley band structure, drives the research on monolayers of transition metal dichalcogenides (TMDs). While recent works ascertained the exotic energetic schemes of exciton complexes in TMDs, we here infer their unusual coherent dynamics occurring on subpicosecond time scale. The dynamics is largely affected by the disorder landscape on the submicron scale, thus can be uncovered using four-wave mixing in the frequency domain, which enables microscopic investigations and imaging. Focusing on a WS2 monolayer, we observe that exciton coherence is lost primarily due to interaction with phonons and relaxation processes towards optically dark excitonic states. Notably, when temperature is low and disorder weak, excitons large coherence volume results in enhanced oscillator strength, allowing to reach the regime of radiatively limited dephasing. Additionally, we observe long valley coherence for the negatively charged exciton complex. We therefore elucidate the crucial role of exciton environment in the TMDs on its dynamics and show that revealed mechanisms are ubiquitous within this family.

Infectious complications of the primary immunodeficiencies.

PubMed

Stiehm, E R; Chin, T W; Haas, A; Peerless, A G

1986-07-01

The primary manifestation of the immunodeficiencies is undue susceptibility to infection. This means too many, too severe, too prolonged, too complicated and too unusual infections. Infections in immunodeficiency have a characteristic cause depending on the nature of the immune deficiency. Antibody deficiencies are associated with infections with gram-positive infections. Cellular immune deficiencies are associated with mycobacterial, protozoan, fungus, virus, and opportunistic bacterial infection. Phagocytic disorders are associated with staphylococcal, fungal, and gram-negative organisms. Complement disorders are associated by neisserial infections. Infections have also been implicated in the pathogenesis of some immunodeficiencies in some circumstances. These include human T lymphotropic virus type III (HTLV-III), rubella virus, cytomegalovirus, and Epstein-Barr virus. Several infectious syndromes in specific immunodeficiencies have been identified. Examples include enteric cytopathic human orphan (ECHO) virus encephalitis in agammaglobulinemia, and meningococcal meningitis in C6 deficiency. Infections can also be induced by live vaccines given in immunodeficiency (e.g., paralytic polio in agammaglobulinemia.) Unusual infectious syndromes will be illustrated including parainfluenza infection in severe combined and immunodeficiency, Legionella pneumonia in chronic granulomatous disease, and Cryptosporidium infection in hyper-IgM immunodeficiency.

Cytophagic and S-100 protein immunoreactive myeloid leukemia cutis.

PubMed

Thomas, Crystal G; Patel, Rajiv M; Bergfeld, Wilma F

2010-03-01

Myeloid leukemia cutis (LC) is the cutaneous involvement by neoplastic leukocytes of the myeloid series. Myeloid LC may occur de novo or concurrently with acute myeloid leukemias, chronic myeloid leukemias, other myeloproliferative disorders or myelodysplastic syndromes. We describe an unusual case of cytophagic S-100 protein immunoreactive leukemia cutis presenting in an 87-year-old woman without prior history of myeloid leukemia or other hematologic disorders. We outline key histologic and immunohistochemical features that aide in the diagnosis of LC. The presence of cytophagocytosis on histologic examination, a phenomenon more commonly associated with lymphoid rather than myeloid malignancies, provided a clue to the possibility of a malignant process. The atypical myeloid infiltrate showed S-100 protein positivity, an unusual finding that may be seen in LC. Although not commonly reported in LC, the presence of S-100 protein positivity and cytophagocytosis should not lead to the premature exclusion of LC as a possible diagnosis until a thorough clinical, histologic and immunohistochemical evaluation is performed. In addition, the presence of cytophagocytosis has been shown to have prognostic significance for patients with myeloid leukemia.

[Early therapeutic trials for retinitis pigmentosa].

PubMed

Dufier, Jean-Louis

2003-01-01

Non syndromic forms of Retinitis Pigmentosa (RP) constitute a collection of clinically and genetically heterogeneous inherited retinal degenerative diseases. They are characterized by a bilateral progressive visual loss susceptible to cause blindness. These diseases are transmitted through pedigrees according to all known modes of inheritance. They are bilateral and usually start during infancy. However, very early clinical presentations exist, such as those observed in children affected by Leber Congenital Amaurosis, as well as late onset autosomal dominant forms of retinitis pigmentosa. The characteristic clinical aspect of the rod-cone RP dystrophies is marked by alterations of the peripheral retina associated with a night blindness and a progressive narrowing of the visual field. The ophthalmoscopic examination of RP patients commonly reveals thin retinal arteries and scattered pigmentary accumulations. In contrast, there are cone rod retinal dystrophies whose onset is marked by a decreased visual acuity before the appearance of any visual field alteration. Some forms of RPs display an ocular fundus devoid of any pigmentary alteration. Syndromic forms of RPs are not uncommon. The association of deafness with RP is detected in nearly 30% of the patients. Other associations with RP can include mental deficiency, facial dysmorphy, microcephaly, obesity, kidney deficiency, immune deficiencies, metabolic disorders. The existence of such syndromic forms of RP localizes RPs at the crossroad of several medical specialties. A long lasting collaboration between our department of ophthalmology and the department of medical genetics of the Necker-Sick Children Hospital has allowed us to establish numerous genotype-phenotype correlations, especially in LCA and Stargardt's disease. ABCR gene mutations cause Stargardt disease. ABCR mutations may also cause some types of Ages Related Macular Degenerations (AMD). Nowadays, there is no known efficient therapy available for patients affected by RP. Gene therapies hold promises of treatment for patients affected by some of these diseases for the next decade. In a not too far future, the use of pharmacological drugs increasing a better intracellular oxygen availability, without triggering any harmful production of free radical oxygen species (ROS), while exerting an anti-apoptotic effect within photoreceptor cells, appears to be a therapeutical strategy deserving to be tested in an appropriately designed clinical trial. For the present time, optical and electronical devices as well as night-vision glasses are the only possible tools allowing to improve the quality of life of some patients.

Differential toxicity of copper, zinc, and lead during the embryonic development of Chasmagnathus granulatus (Brachyura, Varunidae).

PubMed

Lavolpe, Mariano; Greco, Laura López; Kesselman, Daniela; Rodríguez, Enrique

2004-04-01

Ovigerous females of the estuarine crab Chasmagnathus granulatus were exposed to copper (0.01 and 1 mg/L), zinc (0.05, 1, and 10 mg/L), or lead (0.01 and 1 mg/L) during early, late, or whole embryonic development. None of the assayed heavy metals produced a significant mortality of females, neither a decrease in the number of hatched larvae nor a decrease in the egg incubation time, but several morphological abnormalities were detected in hatched larvae. The abnormalities were classified in three categories: eye, body pigmentary, and body morphological abnormalities. Those larvae with eye and body pigmentary abnormalities, particularly those involving retinal pigments and chromatophores, showed the highest incidence by exposure to the assayed metals. In addition, embryos were more susceptible to copper and zinc during the late period of development, whereas the effect of lead was greater during the early period of embryogenesis. Some teratogenic effects observed in C. granulatus embryos exposed to heavy metals, particularly the hypertrophy and hypopigmentation of eyes observed in the laboratory at a lead concentration as low as that reported for the natural environment, could be considered as sensitive biomarkers for this kind of pollutant.

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

Metadisorder for designer light in random systems

PubMed Central

Yu, Sunkyu; Piao, Xianji; Hong, Jiho; Park, Namkyoo

2016-01-01

Disorder plays a critical role in signal transport by controlling the correlation of a system, as demonstrated in various complex networks. In wave physics, disordered potentials suppress wave transport, because of their localized eigenstates, from the interference between multiple scattering paths. Although the variation of localization with tunable disorder has been intensively studied as a bridge between ordered and disordered media, the general trend of disorder-enhanced localization has remained unchanged, and the existence of complete delocalization in highly disordered potentials has not been explored. We propose the concept of “metadisorder”: randomly coupled optical systems in which eigenstates can be engineered to achieve unusual localization. We demonstrate that one of the eigenstates in a randomly coupled system can always be arbitrarily molded, regardless of the degree of disorder, by adjusting the self-energy of each element. Ordered waves with the desired form are then achieved in randomly coupled systems, including plane waves and globally collective resonances. We also devise counterintuitive functionalities in disordered systems, such as “small-world–like” transport from non–Anderson-type localization, phase-conserving disorder, and phase-controlled beam steering. PMID:27757414

SIL1-related Marinesco-Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder.

PubMed

Byrne, Susan; Dlamini, Nomazulu; Lumsden, Daniel; Pitt, Matthew; Zaharieva, Irina; Muntoni, Francesco; King, Andrew; Robert, Leema; Jungbluth, Heinz

2015-07-01

Marinesco-Sjoegren syndrome (MSS) is a recessively inherited multisystem disorder caused by mutations in SIL1 and characterized by cerebellar atrophy with ataxia, cataracts, a skeletal muscle myopathy, and variable degrees of developmental delay. Pathogenic mechanisms implicated to date include mitochondrial, nuclear envelope and lysosomal-autophagic pathway abnormalities. Here we present a 5-year-old girl with SIL1-related MSS and additional unusual features of an associated motor neuronopathy and a bradykinetic movement disorder preceding the onset of ataxia. These findings suggest that an associated motor neuronopathy may be part of the phenotypical spectrum of SIL1-related MSS and should be actively investigated in genetically confirmed cases. The additional observation of a bradykinetic movement disorder suggests an intriguing continuum between neurodevelopmental and neurodegenerative multisystem disorders intricately linked in the same cellular pathways. Copyright © 2015 Elsevier B.V. All rights reserved.

The assessment of the effect of a cosmetic product brightening the skin of people with discolorations of different etiology.

PubMed

Zasada, Malwina; Debowska, Renata; Pasikowska, Monika; Budzisz, Elzbieta

2016-12-01

Hyperpigmentations are disorders displayed with a change in the color of the skin, its strange shape, the lack of symmetry, and irregular placement. They appear no matter on the age, gender, and often as a congenital defect. Disorder connected with overproduction of melanin by pigmentary cells. The change of color is due to endogenous and exogenous cause. The aim of this thesis was to conduct a research in vivo. This will allow to judge the effectiveness of the cosmetic product which brightens the skin with hyperpigmentation problems. The characteristics of dermocosmetics were tested on people with various etiology of hyperpigmentation. The aim of the research was to assess the effect of the active substances used daily on skin hyperpigmentation. The tests were carried out on groups of patients with hyperpigmentations. The application of the pharmaceutical and the use of specific apparatus measurements were taken on every medical checkup. A survey was conducted to assess the changes in the face, neck, and neckline skin. The research was based on the apparatus analysis of the skin condition (MPA ® , VISIA ® ). Regular application of the pharmaceutical caused brightening of hyperpigmentations (P < 0.05). General improvement in skin condition was also observed - the increase in skin elasticity, smoothness, and the enhancement of hydration levels. Dermocosmetics for people with hyperpigmentation are an essential part of their medical treatment. In case of epidermal hyperpigmentation, the recipe of individually chosen and tested combination of ingredients enables us to reach satisfactory results. © 2016 Wiley Periodicals, Inc.

Probed Serial Recall in Williams Syndrome: Lexical Influences on Phonological Short-Term Memory

ERIC Educational Resources Information Center

Brock, Jan; McCormack, Teresa; Boucher, Jill

2005-01-01

Williams syndrome is a genetic disorder that, it has been claimed, results in an unusual pattern of linguistic strengths and weaknesses. The current study investigated the hypothesis that there is a reduced influence of lexical knowledge on phonological short-term memory in Williams syndrome. Fourteen children with Williams syndrome and 2…

Superimposed Segmental Manifestation of Juvenile Amyopathic Dermatomyositis in a 9-year-old Boy

PubMed Central

Bulur, Isil; Erdogan, Hilal Kaya; Saracoglu, Zeynep Nurhan; Happle, Rudolf; Canaz, Funda

2017-01-01

Dermatomyositis is a well-known autoimmune disorder. On the other hand, juvenile amyopathic dermatomyositis (JADM) occurs rather rarely. Here, we report an unusual case in a 9-year-old Turkish boy showing a unilateral linear inflammatory skin lesion that was followed, after 16 months, by the appearance of bilateral disseminated features JADM. PMID:28794565

Ingressive Speech Errors: A Service Evaluation of Speech-Sound Therapy in a Child Aged 4;6

ERIC Educational Resources Information Center

Hrastelj, Laura; Knight, Rachael-Anne

2017-01-01

Background: A pattern of ingressive substitutions for word-final sibilants can be identified in a small number of cases in child speech disorder, with growing evidence suggesting it is a phonological difficulty, despite the unusual surface form. Phonological difficulty implies a problem with the cognitive process of organizing speech into sound…

Neurophysiological Indices of Atypical Auditory Processing and Multisensory Integration Are Associated with Symptom Severity in Autism

ERIC Educational Resources Information Center

Brandwein, Alice B.; Foxe, John J.; Butler, John S.; Frey, Hans-Peter; Bates, Juliana C.; Shulman, Lisa H.; Molholm, Sophie

2015-01-01

Atypical processing and integration of sensory inputs are hypothesized to play a role in unusual sensory reactions and social-cognitive deficits in autism spectrum disorder (ASD). Reports on the relationship between objective metrics of sensory processing and clinical symptoms, however, are surprisingly sparse. Here we examined the relationship…

Brief Report: Non-Random X Chromosome Inactivation in Females with Autism

ERIC Educational Resources Information Center

Talebizadeh, Z.; Bittel, D. C.; Veatch, O. J.; Kibiryeva, N.; Butler, M. G.

2005-01-01

Autism is a heterogeneous neurodevelopmental disorder with a 3-4 times higher sex ratio in males than females. X chromosome genes may contribute to this higher sex ratio through unusual skewing of X chromosome inactivation. We studied X chromosome skewness in 30 females with classical autism and 35 similarly aged unaffected female siblings as…

Association between Psychopathic Disorder and Serum Antibody to Herpes Simplex Virus (Type 1)

PubMed Central

Cleobury, J. F.; Skinner, G. R. B.; Thouless, M. E.; Wildy, P.

1971-01-01

The sera of a small of patients has been examined for herpes simplex virus antibody. Three clinically-defined groups of patients were compared: (a) aggressive psychopaths, (b) psychiatric controls, and (c) general hospital patients. The first group had an unusually high average kinetic neutralization constant against type 1 herpes simplex virus. PMID:5543996

Association between psychopathic disorder and serum antibody to herpes simplex virus (type 1).

PubMed

Cleobury, J F; Skinner, G R; Thouless, M E; Wildy, P

1971-02-20

The sera of a small of patients has been examined for herpes simplex virus antibody. Three clinically-defined groups of patients were compared: (a) aggressive psychopaths, (b) psychiatric controls, and (c) general hospital patients. The first group had an unusually high average kinetic neutralization constant against type 1 herpes simplex virus.

The Psychometric Properties of a New Measure of Sensory Behaviors in Autistic Children

ERIC Educational Resources Information Center

Neil, Louise; Green, Dido; Pellicano, Elizabeth

2017-01-01

Unusual reactions to sensory input became part of the diagnostic criteria for autism spectrum disorder in the DSM-5. Measures accurately assessing these symptoms are important for clinical decisions. This study examined the reliability and validity of the Sensory Behavior Questionnaire, a parent-report scale designed to assess frequency and impact…

Entomophagy and Coprophagy in Undifferentiated Schizophrenia

PubMed Central

Lingeswaran, Anand; Vijayakumar, Vinayak; Dinesh, John

2009-01-01

Coprophagia or the ingestion of feces, considered to be a variant of pica, has been associated with medical disorders like seizure disorders, cerebral atrophy, and tumors and with psychiatric disorders like mental retardation, alcoholism, depression, obsessive compulsive disorder, schizophrenia, schizoaffective disorder, fetishes, delirium, and dementia. But entomophagy or the practice of eating live or dead insects as food by humans has only been reported as part of eating habits by some cultures in the world and not in association with any medical or neuropsychiatric disorders. Till date, there is no report in medical literature of entomophagy as an association with any neuropsychiatric or medical illnesses. Coprophagy and entomophagy has not been together reported as well. We describe the first ever case report of a 19-year- old male patient diagnosed with undifferentiated schizophrenia and associated with both entomophagy and coprophagy. His schizophrenic symptoms, the entomophagic, coprophagic behaviors improved with olanzapine therapy. Entomophagy and coprophagy, two very unusual human behaviors, can be seen in association with schizophrenia. PMID:21938094

Entomophagy and coprophagy in undifferentiated schizophrenia.

PubMed

Lingeswaran, Anand; Vijayakumar, Vinayak; Dinesh, John

2009-01-01

Coprophagia or the ingestion of feces, considered to be a variant of pica, has been associated with medical disorders like seizure disorders, cerebral atrophy, and tumors and with psychiatric disorders like mental retardation, alcoholism, depression, obsessive compulsive disorder, schizophrenia, schizoaffective disorder, fetishes, delirium, and dementia. But entomophagy or the practice of eating live or dead insects as food by humans has only been reported as part of eating habits by some cultures in the world and not in association with any medical or neuropsychiatric disorders. Till date, there is no report in medical literature of entomophagy as an association with any neuropsychiatric or medical illnesses. Coprophagy and entomophagy has not been together reported as well. We describe the first ever case report of a 19-year- old male patient diagnosed with undifferentiated schizophrenia and associated with both entomophagy and coprophagy. His schizophrenic symptoms, the entomophagic, coprophagic behaviors improved with olanzapine therapy. Entomophagy and coprophagy, two very unusual human behaviors, can be seen in association with schizophrenia.

A disorder-enhanced quasi-one-dimensional superconductor

PubMed Central

Petrović, A. P.; Ansermet, D.; Chernyshov, D.; Hoesch, M.; Salloum, D.; Gougeon, P.; Potel, M.; Boeri, L.; Panagopoulos, C.

2016-01-01

A powerful approach to analysing quantum systems with dimensionality d>1 involves adding a weak coupling to an array of one-dimensional (1D) chains. The resultant quasi-1D (q1D) systems can exhibit long-range order at low temperature, but are heavily influenced by interactions and disorder due to their large anisotropies. Real q1D materials are therefore ideal candidates not only to provoke, test and refine theories of strongly correlated matter, but also to search for unusual emergent electronic phases. Here we report the unprecedented enhancement of a superconducting instability by disorder in single crystals of Na2−δMo6Se6, a q1D superconductor comprising MoSe chains weakly coupled by Na atoms. We argue that disorder-enhanced Coulomb pair-breaking (which usually destroys superconductivity) may be averted due to a screened long-range Coulomb repulsion intrinsic to disordered q1D materials. Our results illustrate the capability of disorder to tune and induce new correlated electron physics in low-dimensional materials. PMID:27448209

Etiology and pathogenesis of anxiety disorders.

PubMed

Sher, L

2001-07-01

The author suggests that biological abnormalities related to the development of anxiety disorders can be classified as real or relative. Individuals with 'real abnormalities' are not able to function under any circumstances, including the circumstances that are natural for humans. Persons with 'relative abnormalities' can function under the natural circumstances, but are not able to function in situations that are unnatural for humans. Unnatural situations include being in elevators, flying airplanes, driving cars, etc. The author suggests that all humans can be classified into four groups: 1. Individuals with excellent 'adaptational reserve' never develop anxiety disorders; 2. Individuals with good adaptational reserve develop anxiety disorders only if they are subjected to extremely stressful, unusual situations (e.g. being a hostage); 3. Individuals with moderate adaptational reserve develop anxiety disorders if they are exposed to unnatural situations. They have 'relative abnormalities'; 4. Individuals with poor adaptational reserve develop anxiety disorders in situations that are natural for humans. They have 'real abnormalities'. Copyright 2001 Harcourt Publishers Ltd.

A disorder-enhanced quasi-one-dimensional superconductor.

PubMed

Petrović, A P; Ansermet, D; Chernyshov, D; Hoesch, M; Salloum, D; Gougeon, P; Potel, M; Boeri, L; Panagopoulos, C

2016-07-22

A powerful approach to analysing quantum systems with dimensionality d>1 involves adding a weak coupling to an array of one-dimensional (1D) chains. The resultant quasi-1D (q1D) systems can exhibit long-range order at low temperature, but are heavily influenced by interactions and disorder due to their large anisotropies. Real q1D materials are therefore ideal candidates not only to provoke, test and refine theories of strongly correlated matter, but also to search for unusual emergent electronic phases. Here we report the unprecedented enhancement of a superconducting instability by disorder in single crystals of Na2-δMo6Se6, a q1D superconductor comprising MoSe chains weakly coupled by Na atoms. We argue that disorder-enhanced Coulomb pair-breaking (which usually destroys superconductivity) may be averted due to a screened long-range Coulomb repulsion intrinsic to disordered q1D materials. Our results illustrate the capability of disorder to tune and induce new correlated electron physics in low-dimensional materials.

Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language.

PubMed

O'Rourke, Declan J; Ryan, Stephanie; Salomons, Gajja; Jakobs, Cornelis; Monavari, Ahmad; King, Mary D

2009-05-01

Guanidinoacetate methyltransferase (GAMT) deficiency is a disorder of creatine biosynthesis, characterized by early-onset learning disability and epilepsy in most affected children. Severe expressive language delay is a constant feature even in the mildest clinical phenotypes.We report the clinical, biochemical, imaging, and treatment data of two female siblings (18y and 13y) with an unusual phenotype of GAMT deficiency. The oldest sibling had subacute onset of a movement disorder at age 17 years, later than has been previously reported. The younger sibling had better language skills than previously described in this disorder. After treatment with creatine, arginine restriction and ornithine-supplemented diet, seizure severity and movement disorder were reduced but cognition did not improve. This report confirms that GAMT deficiency, a heterogeneous, potentially treatable disorder, detected by increased levels of guanidinoacetate in body fluids (e.g. plasma or urine) or by an abnormal creatine peak on magnetic resonance spectroscopy, should be considered in patients of any age with unexplained, apparently static learning disability and epilepsy.

Dynamic protein interaction networks and new structural paradigms in signaling

PubMed Central

Csizmok, Veronika; Follis, Ariele Viacava; Kriwacki, Richard W.; Forman-Kay, Julie D.

2017-01-01

Understanding signaling and other complex biological processes requires elucidating the critical roles of intrinsically disordered proteins and regions (IDPs/IDRs), which represent ~30% of the proteome and enable unique regulatory mechanisms. In this review we describe the structural heterogeneity of disordered proteins that underpins these mechanisms and the latest progress in obtaining structural descriptions of ensembles of disordered proteins that are needed for linking structure and dynamics to function. We describe the diverse interactions of IDPs that can have unusual characteristics such as “ultrasensitivity” and “regulated folding and unfolding”. We also summarize the mounting data showing that large-scale assembly and protein phase separation occurs within a variety of signaling complexes and cellular structures. In addition, we discuss efforts to therapeutically target disordered proteins with small molecules. Overall, we interpret the remodeling of disordered state ensembles due to binding and post-translational modifications within an expanded framework for allostery that provides significant insights into how disordered proteins transmit biological information. PMID:26922996

Anomalous glassy dynamics in simple models of dense biological tissue

NASA Astrophysics Data System (ADS)

Sussman, Daniel M.; Paoluzzi, M.; Marchetti, M. Cristina; Manning, M. Lisa

2018-02-01

In order to understand the mechanisms for glassy dynamics in biological tissues and shed light on those in non-biological materials, we study the low-temperature disordered phase of 2D vertex-like models. Recently it has been noted that vertex models have quite unusual behavior in the zero-temperature limit, with rigidity transitions that are controlled by residual stresses and therefore exhibit very different scaling and phenomenology compared to particulate systems. Here we investigate the finite-temperature phase of two-dimensional Voronoi and Vertex models, and show that they have highly unusual, sub-Arrhenius scaling of dynamics with temperature. We connect the anomalous glassy dynamics to features of the potential energy landscape associated with zero-temperature inherent states.

NMOSD triggered by yellow fever vaccination - An unusual clinical presentation with segmental painful erythema.

PubMed

Schöberl, F; Csanadi, E; Eren, O; Dieterich, M; Kümpfel, T

2017-01-01

Neuromyelitis Optica Spectrum Disorder (NMOSD) is an immune-mediated disease of the central nervous system with the presence of aquaporin 4-antibodies (AQP4-abs) in most cases. We describe a patient who developed NMOSD after a yellow fever vaccination. He presented to us with an unusual painful erythema Th7-9 triggered by touch in the respective skin area due to a cervical spinal cord lesion affecting the dorsolateral parts of C6/7. To our knowledge, this is the first case of NMOSD with such a clinical presentation expanding the clinical spectrum of NMOSD. It is important to be aware of that a yellow fever vaccination can trigger NMOSD. Copyright © 2016 Elsevier B.V. All rights reserved.

Self-Reported Sleep Disturbances in Patients with Dissociative Identity Disorder and Post-Traumatic Stress Disorder and How They Relate to Cognitive Failures and Fantasy Proneness

PubMed Central

van Heugten – van der Kloet, Dalena; Huntjens, Rafaele; Giesbrecht, Timo; Merckelbach, Harald

2014-01-01

Sleep disturbances, fantasy proneness, cognitive failures, and dissociative symptoms are related to each other. However, the co-occurrence of these phenomena has been primarily studied in non-clinical samples. We investigated the correlations between these phenomena in dissociative identity disorder (DID) patients, post-traumatic stress disorder (PTSD) patients, and healthy controls. Both patient groups reported more sleep problems and lower sleep quality and displayed higher levels of fantasy proneness and cognitive failures than controls. However, the two patient groups did not differ with regard to these variables. Moreover, a higher level of unusual sleep experiences tended to predict participants belonging to the DID group, while specifically a lower sleep quality and more cognitive failures tended to predict participants belonging to the PTSD group. PMID:24600412

Self-reported sleep disturbances in patients with dissociative identity disorder and post-traumatic stress disorder and how they relate to cognitive failures and fantasy proneness.

PubMed

van Heugten-van der Kloet, Dalena; Huntjens, Rafaele; Giesbrecht, Timo; Merckelbach, Harald

2014-01-01

Sleep disturbances, fantasy proneness, cognitive failures, and dissociative symptoms are related to each other. However, the co-occurrence of these phenomena has been primarily studied in non-clinical samples. We investigated the correlations between these phenomena in dissociative identity disorder (DID) patients, post-traumatic stress disorder (PTSD) patients, and healthy controls. Both patient groups reported more sleep problems and lower sleep quality and displayed higher levels of fantasy proneness and cognitive failures than controls. However, the two patient groups did not differ with regard to these variables. Moreover, a higher level of unusual sleep experiences tended to predict participants belonging to the DID group, while specifically a lower sleep quality and more cognitive failures tended to predict participants belonging to the PTSD group.

Effect of disorder on the pressure-induced superconducting state of CeAu 2Si 2

NASA Astrophysics Data System (ADS)

Ren, Z.; Giriat, G.; Scheerer, G. W.; Lapertot, G.; Jaccard, D.

2015-03-01

CeAu2Si2 is a newly discovered pressure-induced heavy fermion superconductor, which shows very unusual interplay between superconductivity and magnetism under pressure. Here we compare the results of high-pressure measurements on single-crystalline CeAu2Si2 samples with different levels of disorder. It is found that while the magnetic properties are essentially sample independent, superconductivity is rapidly suppressed when the residual resistivity of the sample increases. We show that the depression of bulk Tc can be well understood in terms of pair breaking by nonmagnetic disorder, which strongly suggests an unconventional pairing state in pressurized CeAu2Si2 . Furthermore, increasing the level of disorder leads to the emergence of another phase transition at T* within the magnetic phase, which might be in competition with superconductivity.

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 develop benign or atypical moles, in the etiology of this disease. (c) 2005 Wiley-Liss, Inc.

Clinical classification of age-related macular degeneration.

PubMed

Ferris, Frederick L; Wilkinson, C P; Bird, Alan; Chakravarthy, Usha; Chew, Emily; Csaky, Karl; Sadda, SriniVas R

2013-04-01

To develop a clinical classification system for age-related macular degeneration (AMD). Evidence-based investigation, using a modified Delphi process. Twenty-six AMD experts, 1 neuro-ophthalmologist, 2 committee chairmen, and 1 methodologist. Each committee member completed an online assessment of statements summarizing current AMD classification criteria, indicating agreement or disagreement with each statement on a 9-step scale. The group met, reviewed the survey results, discussed the important components of a clinical classification system, and defined new data analyses needed to refine a classification system. After the meeting, additional data analyses from large studies were provided to the committee to provide risk estimates related to the presence of various AMD lesions. Delphi review of the 9-item set of statements resulting from the meeting. Consensus was achieved in generating a basic clinical classification system based on fundus lesions assessed within 2 disc diameters of the fovea in persons older than 55 years. The committee agreed that a single term, age-related macular degeneration, should be used for the disease. Persons with no visible drusen or pigmentary abnormalities should be considered to have no signs of AMD. Persons with small drusen (<63 μm), also termed drupelets, should be considered to have normal aging changes with no clinically relevant increased risk of late AMD developing. Persons with medium drusen (≥ 63-<125 μm), but without pigmentary abnormalities thought to be related to AMD, should be considered to have early AMD. Persons with large drusen or with pigmentary abnormalities associated with at least medium drusen should be considered to have intermediate AMD. Persons with lesions associated with neovascular AMD or geographic atrophy should be considered to have late AMD. Five-year risks of progressing to late AMD are estimated to increase approximately 100 fold, ranging from a 0.5% 5-year risk for normal aging changes to a 50% risk for the highest intermediate AMD risk group. The proposed basic clinical classification scale seems to be of value in predicting the risk of late AMD. Incorporating consistent nomenclature into the practice patterns of all eye care providers may improve communication and patient care. Copyright © 2013 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

[Metabolic alkalosis despite hyperlactatemia and hypercapnia. Interpretation and therapy with help of the Stewart concept].

PubMed

Chappell, D; Hofmann-Kiefer, K; Jacob, M; Conzen, P; Rehm, M

2008-02-01

Acid-base disturbances are commonly found in critically ill patients and are often associated with fatal complications. The basis of a successful treatment is a thorough understanding of the causes of these disorders. The "classical methods" to explain acid-base disorders--pH, base excess and bicarbonate concentration--mostly do not provide a causal correlation to the underlying pathology. An unusual case of a combined respiratory-metabolic disorder with hyperlactatemia and hypercapnia is presented. An acidosis masked by hypochloremic and hypoalbuminemic alkalosis was identified with the help of Stewart's concept and finally permitted a successful therapy. The modern Stewart concept provides enhanced information, enabling an exact diagnosis and causal therapy even in complex cases.

Sotos syndrome: An interesting disorder with gigantism.

PubMed

Nalini, A; Biswas, Arundhati

2008-07-01

We report the case of a 16-year-old boy diagnosed to have Sotos syndrome, with rare association of bilateral primary optic atrophy and epilepsy. He presented with accelerated linear growth, facial gestalt, distinctive facial features, seizures and progressive diminution of vision in both eyes. He had features of gigantism from early childhood. An MRI showed that brain and endocrine functions were normal. This case is of interest, as we have to be aware of this not so rare disorder. In addition to the classic features, there were two unusual associations with Sotos syndrome in the patient.

Slipping rib syndrome in childhood.

PubMed

Mooney, D P; Shorter, N A

1997-07-01

Slipping rib syndrome is an unusual cause of lower chest and upper abdominal pain in children not mentioned in major pediatric surgical texts. The syndrome occurs when the medial fibrous attachments of the eighth, ninth, or tenth ribs are inadequate or ruptured, allowing their cartilage tip to slip superiorly and impinge on the intervening intercostal nerve. This may cause a variety of somatic and visceral complaints. Although the diagnosis may be made based on history and physical examination, lack of recognition of this disorder frequently leads to extensive diagnostic evaluations before definitive therapy. The authors report on four children who have this disorder.

Familial pseudoxanthoma elasticum associated with multiple comedones.

PubMed

Maarouf, Melody; Sharon, Victoria R; Sivamani, Raja K; Prakash, Neha; Bipin, T H; Davis, Tracy; Shi, Vivian Y

2017-09-15

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by atypical elastic fibers that causes connective tissue abnormalities of the skin, eyes, and heart, among other organs. The disorder is rare, with a classic presentation of yellow-orange cobblestone-like papules on flexural areas, lax skin, ocular degeneration, and moribund vasculature in multiple organs. There is wide variability in the presentation of the affected organs [1]. We present two sisters with classic cutaneous findings of PXE with the additional unusual findings of numerous open comedones on the neck. To our knowledge, this is the first report of numerous open comedones in familial PXE.

Coeliac Disease With Rheumatoid Arthritis: An Unusual Association.

PubMed

Warjri, Synrang Batngen; Ete, Tony; Beyong, Taso; Barman, Bhupen; Lynrah, Kyrshanlang G; Nobin, Hage; Perme, Obang

2015-02-01

Coeliac disease has a significant association with many autoimmune disorders. It shares many common genetic and immunological features with other autoimmune diseases. Gluten, a gut-derived antigen, is the driver of the autoimmunity seen in coeliac disease. The altered intestinal permeability found in coeliac patients, coupled with a genetic predisposition and altered immunological response, may result in a systemic immune response that is directed against sites other than the gut. Gut-derived antigens may have a role in the pathogenesis of other autoimmune disorders including rheumatoid arthritis. Here we report a case of adult coeliac disease associated with rheumatoid arthritis.

Sotos syndrome: An interesting disorder with gigantism

PubMed Central

Nalini, A.; Biswas, Arundhati

2008-01-01

We report the case of a 16-year-old boy diagnosed to have Sotos syndrome, with rare association of bilateral primary optic atrophy and epilepsy. He presented with accelerated linear growth, facial gestalt, distinctive facial features, seizures and progressive diminution of vision in both eyes. He had features of gigantism from early childhood. An MRI showed that brain and endocrine functions were normal. This case is of interest, as we have to be aware of this not so rare disorder. In addition to the classic features, there were two unusual associations with Sotos syndrome in the patient. PMID:19893668

Munchausen Syndrome and the Wide Spectrum of Factitious Disorders.

PubMed

Tatu, Laurent; Aybek, Selma; Bogousslavsky, Julien

2018-01-01

Since its initial description in 1851, Munchausen syndrome has been widely used interchangeably with factitious disorder. Nevertheless, this syndrome is only one form of factitious disorder that is both severe and chronic. The syndrome was named after Karl Friedrich Hieronymus, Baron von Münchhausen (1720-1797), a German nobleman who became famous as a narrator of false and exaggerated exploits. His name was progressively corrupted to Munchausen. Factitious disorders and Munchausen syndrome remain a great diagnosis challenge for physicians. All medical specialities are concerned by these disorders. The diagnosis process involves a first step to exclude an unusual presentation of a common medical condition. The second step consists of excluding somatoform disorders and malingering. Unfortunately, the boundaries between factitious disorder, somatization, and malingering are often unclear. In 1977, the term "Munchausen's syndrome by proxy" was coined to define a situation where a person produces false symptoms in another one, especially a child. This term was extended to similar interactions between human and pets. Because varied conditions have been included in the definition of this syndrome, there is ongoing debate about alternative names. © 2018 S. Karger AG, Basel.

Ruminations on Hildegard of Bingen (1098-1179) and autism.

PubMed

Ranft, Patricia

2014-05-01

The article brings together contemporary research on autism spectrum disorder and historical sources concerning the medical condition of a 12th century nun, Hildegard of Bingen, to test two hypotheses: first, that Hildegard manifested disabilities that meet the criteria for autism spectrum disorder and, second, that medieval monasticism was unwittingly well-suited to treat Hildegard's condition. Abundant Hildegardian sources document traces of autism spectrum disorder behaviour in Hildegard's unusual childhood and the composite picture that emerges, when these individual traits are gathered together, is consistent with an autism spectrum disorder diagnosis. The role monasticism played in helping Hildegard overcome these behaviours is documented and aspects that monasticism shares with modern autism spectrum disorder treatment programs are identified. By recognizing the presence of autism spectrum disorder traits in a major cultural leader of another era and by identifying the type of life she lived while those traits were minimized, we gain insight into the history of autism, medieval monastic life and effective elements of autism spectrum disorder treatment. © The Author(s) 2013 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

[Münchhausen syndrome by proxy].

PubMed

Le Heuzey, M-F; Mouren, M-C

2008-01-01

Münchhausen syndrome by proxy is a factitious disorder, a disease produced or simulated by a parent, the mother in most cases. Clinical presentation is miscellaneous (factitious bleeding, epilepsy, apnea are frequent) and unusual. Physicians participate in the abuse by their therapeutic and diagnostical measures. It is very important to think about this diagnostic in any ambiguous situation in order to evaluate and protect the child.

Airway Autoimmune Inflammatory Response (AAIR) Syndrome: An Asthma-Autoimmune Overlap Disorder?

PubMed

Spencer, Chantal Y; Millman, Jennifer; Veiga, Keila; Vicencio, Alfin G

2018-02-15

Asthma encompasses numerous phenotypes that may require alternate approaches to diagnosis and therapy, particularly for patients whose symptoms remain poorly controlled despite escalating treatment. We describe 3 patients with apparent asthma who demonstrated unusual findings on cryobiopsy by flexible bronchoscopy and responded to therapy directed against autoimmune disease. Copyright © 2018 by the American Academy of Pediatrics.

Did Michelangelo (1475-1564) have high-functioning autism?

PubMed

Arshad, Muhammad; Fitzgerald, Michael

2004-05-01

In this paper evidence is presented that Michelangelo met the criteria for Asperger's disorder, or high-functioning autism. The evidence relates to his single-minded work routine, unusual lifestyle, limited interests, poor social and communication skills, and issues of life control. Depression and various medical conditions, including gout, renal colic and renal stones, did not stop his obsessive working habits.

Aerophagia and belching after herpes simplex encephalitis.

PubMed

Scheid, Rainer; Teich, Niels; Schroeter, Matthias L

2008-03-01

The etiology of abnormal belching is not known. Currently, it is being subsumed under "functional gastroduodenal disorders." Here, we report the unusual case history of a patient who developed aerophagia and consecutive excessive belching in association with herpes simplex encephalitis. The case report adds to the limited information about potential organic geneses of belching. Implications for possible medical therapies are discussed.

Munchausen syndrome: Playing sick or sick player

PubMed Central

Prakash, Jyoti; Das, R. C.; Srivastava, K.; Patra, P.; Khan, S. A.; Shashikumar, R.

2014-01-01

Munchausen syndrome is rare factitious disorder which entails frequent hospitalization, pathological lying and intentional production of symptoms for sick role. Management requires collateral history taking, sound clinical approach, exclusion of organicity and addressing psychological issues. A case which presented with unusual symptoms of similar dimension is discussed here. The case brings out finer nuances in evaluation and management of this entity. PMID:25535450

Hemophilia Care in the Pediatric Age

PubMed Central

Bertamino, Marta; Riccardi, Francesca; Banov, Laura; Svahn, Johanna; Molinari, Angelo Claudio

2017-01-01

Hemophilia is the most common of the severe bleeding disorders and if not properly managed since early infancy can lead to chronic disease and lifelong disabilities. However, it enjoys the most efficacious and safe treatment among the most prevalent monogenic disorders. Hemophilia should be considered in the neonatal period in the case of unusual bleeding or in the case of positive family history. Later, hemophilia should be suspected mainly in males because of abnormal bruising/bleeding or unusual bleeding following invasive procedures—for example, tonsillectomy or circumcision. Prophylactic treatment that is started early with clotting-factor concentrates has been shown to prevent hemophilic arthropathy and is, therefore, the gold standard of care for hemophilia A and B in most countries with adequate resources. Central venous access catheters and arterovenous fistulas play an important role in the management of hemophilia children requiring repeated and/or urgent administration of coagulation factor concentrates. During childhood and adolescence, personalized treatment strategies that suit the patient and his lifestyle are essential to ensure optimal outcomes. Physical activity is important and can contribute to better coordination, endurance, flexibility and strength. The present article focuses also on questions frequently posed to pediatric hematologists like vaccinations, day-care/school access and dental care. PMID:28534860

Autism

PubMed Central

Levy, Susan E; Mandell, David S; Schultz, Robert T

2010-01-01

Autism spectrum disorders are characterised by severe deficits in socialisation, communication, and repetitive or unusual behaviours. Increases over time in the frequency of these disorders (to present rates of about 60 cases per 10 000 children) might be attributable to factors such as new administrative classifications, policy and practice changes, and increased awareness. Surveillance and screening strategies for early identification could enable early treatment and improved outcomes. Autism spectrum disorders are highly genetic and multifactorial, with many risk factors acting together. Genes that affect synaptic maturation are implicated, resulting in neurobiological theories focusing on connectivity and neural effects of gene expression. Several treatments might address core and comorbid symptoms. However, not all treatments have been adequately studied. Improved strategies for early identification with phenotypic characteristics and biological markers (eg, electrophysiological changes) might hopefully improve effectiveness of treatment. Further knowledge about early identification, neurobiology of autism, effective treatments, and the effect of this disorder on families is needed. PMID:19819542

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

Brahlek, Matthew; Koirala, Nikesh; Salehi, Maryam

Topological insulators (TI) are a phase of matter that host unusual metallic states on their surfaces. Unlike the states that exist on the surface of conventional materials, these so-called topological surfaces states (TSS) are protected against disorder-related localization effects by time reversal symmetry through strong spin-orbit coupling. By combining transport measurements, angle-resolved photo-emission spectroscopy and scanning tunneling microscopy, we show that there exists a critical level of disorder beyond which the TI Bi 2Se 3 loses its ability to protect the metallic TSS and transitions to a fully insulating state. The absence of the metallic surface channels dictates that theremore » is a change in material’s topological character, implying that disorder can lead to a topological phase transition even without breaking the time reversal symmetry. This observation challenges the conventional notion of topologically-protected surface states, and will provoke new studies as to the fundamental nature of topological phase of matter in the presence of disorder.« less

Autism.

PubMed

Levy, Susan E; Mandell, David S; Schultz, Robert T

2009-11-07

Autism spectrum disorders are characterised by severe deficits in socialisation, communication, and repetitive or unusual behaviours. Increases over time in the frequency of these disorders (to present rates of about 60 cases per 10,000 children) might be attributable to factors such as new administrative classifications, policy and practice changes, and increased awareness. Surveillance and screening strategies for early identification could enable early treatment and improved outcomes. Autism spectrum disorders are highly genetic and multifactorial, with many risk factors acting together. Genes that affect synaptic maturation are implicated, resulting in neurobiological theories focusing on connectivity and neural effects of gene expression. Several treatments might address core and comorbid symptoms. However, not all treatments have been adequately studied. Improved strategies for early identification with phenotypic characteristics and biological markers (eg, electrophysiological changes) might hopefully improve effectiveness of treatment. Further knowledge about early identification, neurobiology of autism, effective treatments, and the effect of this disorder on families is needed.

Acute hepatic decompensation precipitated by pregnancy-related catabolic stress: a rare mimic of acute liver failure.

PubMed

Sinclair, Marie; Ket, Shara; Testro, Adam; Gow, Paul J; Angus, Peter W

2014-02-01

Abnormal liver function tests are common in pregnancy; however, liver failure is rare. Pregnancy is a catabolic state that can precipitate illness in patients with underlying metabolic disorders. A 19-year-old woman presented at 14 weeks of gestation with an alanine transaminase of 2,252 international units/L (less than 30), an international normalized ratio of 6.9 (0.9-1.2), and an ammonia of 58 micromole/L (11-51 micromole/L). No cause was identified on routine investigations including liver biopsy. Biochemical and clinical deterioration prompted investigation for a metabolic disorder. Urinary orotic acid was elevated, consistent with the urea cycle disorder type 1 citrullinemia. Appropriate management (arginine supplementation and dietary protein restriction) led to rapid improvement and later delivery of a healthy neonate. This is an unusual presentation that reminds us of the importance of considering metabolic disorders during the catabolic stress of pregnancy.

Unilateral retinitis pigmentosa sine pigmento.

PubMed Central

Pearlman, J T; Saxton, J; Hoffman, G

1976-01-01

A patient presented with unilateral findings of night blindness shown by impaired rod function and dark adaptation, constricted visual fields with good central acuity, a barely recordable electro-retinographic b-wave, and a unilaterally impaired electro-oculogram. There were none of the pigmentary changes usually associated with retinitis pigmentosa. The unaffected right eye was normal in all respects. Therefore the case is most probably one of unilateral retinitis pigmentosa sine pigmento. Images PMID:952804

Unilateral retinitis pigmentosa sine pigmento.

PubMed

Pearlman, J T; Saxton, J; Hoffman, G

1976-05-01

A patient presented with unilateral findings of night blindness shown by impaired rod function and dark adaptation, constricted visual fields with good central acuity, a barely recordable electro-retinographic b-wave, and a unilaterally impaired electro-oculogram. There were none of the pigmentary changes usually associated with retinitis pigmentosa. The unaffected right eye was normal in all respects. Therefore the case is most probably one of unilateral retinitis pigmentosa sine pigmento.

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.

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.

A previously unreported association between Nance-Horan syndrome and spontaneous dental abscesses.

PubMed

Hibbert, Sally

2005-02-01

Atypical dentofacial structures may be the first indicator of other anomalies linked to a syndrome. This case describes the management of a 9-year-old girl referred for the routine management of supernumerary teeth. The anomalous form of her teeth, together with multiple supernumerary units and a history of congenital cataracts, were suggestive of a diagnosis of Nance-Horan syndrome. This is an X-linked disorder, in which females usually demonstrate mild expression; this case was unusual in respect to the marked phenotype expressed. Unusually, the girl developed 2 spontaneous abscesses of her noncarious upper incisor teeth; a feature never previously described in this syndrome. This report details the patient's dental management and discusses the possible pathogenesis of the dental abscesses, together with the genetic implications of this syndrome.

Delusional infestation with unusual pathogens: a report of three cases.

PubMed

Dewan, P; Miller, J; Musters, C; Taylor, R E; Bewley, A P

2011-10-01

Delusional infestation (DI) is a psychiatric disorder characterized by a fixed, false belief that the patient is infested with extracorporeal agents. It is known by several names, including the more commonly used term 'delusional parasitosis'. The psychiatric disease is responsible for the cutaneous pathology. About 90% of patients with DI seek help from dermatologists, and most reject psychiatric referral. Thus, effective management requires incorporation of psychiatric principles. We report three cases of DI with inanimate materials, and examine 'Morgellons' disease. We believe that patients with unusual presentations of DI are likely to be seen more commonly in the future. These patients appear to be a subgroup of DI, and may be even more difficult to treat than other patients with DI. © The Author(s). CED © 2011 British Association of Dermatologists.

Disorder-driven topological phase transition in B i 2 S e 3 films

DOE PAGES

Brahlek, Matthew; Koirala, Nikesh; Salehi, Maryam; ...

2016-10-03

Topological insulators (TI) are a phase of matter that host unusual metallic states on their surfaces. Unlike the states that exist on the surface of conventional materials, these so-called topological surfaces states (TSS) are protected against disorder-related localization effects by time reversal symmetry through strong spin-orbit coupling. By combining transport measurements, angle-resolved photo-emission spectroscopy and scanning tunneling microscopy, we show that there exists a critical level of disorder beyond which the TI Bi 2Se 3 loses its ability to protect the metallic TSS and transitions to a fully insulating state. The absence of the metallic surface channels dictates that theremore » is a change in material’s topological character, implying that disorder can lead to a topological phase transition even without breaking the time reversal symmetry. This observation challenges the conventional notion of topologically-protected surface states, and will provoke new studies as to the fundamental nature of topological phase of matter in the presence of disorder.« less

Harry Potter and the curse of headache.

PubMed

Sheftell, Fred; Steiner, Timothy J; Thomas, Hallie

2007-06-01

Headache disorders are common in children and adolescents. Even young male Wizards are disabled by them. In this article we review Harry Potter's headaches as described in the biographical series by JK Rowling. Moreover, we attempt to classify them. Regrettably we are not privy to the Wizard system of classifying headache disorders and are therefore limited to the Muggle method, the International Classification of Headache Disorders, 2nd edition (ICHD-II). Harry's headaches are recurrent. Although conforming to a basic stereotype, and constant in location, throughout the 6 years of his adolescence so far described they have shown a tendency to progression. Later descriptions include a range of accompanying symptoms. Despite some quite unusual features, they meet all but one of the ICHD-II criteria for migraine, so allowing the diagnosis of 1.6 Probable migraine.

Lattice Supersymmetry and Order-Disorder Coexistence in the Tricritical Ising Model

NASA Astrophysics Data System (ADS)

O'Brien, Edward; Fendley, Paul

2018-05-01

We introduce and analyze a quantum spin or Majorana chain with a tricritical Ising point separating a critical phase from a gapped phase with order-disorder coexistence. We show that supersymmetry is not only an emergent property of the scaling limit but also manifests itself on the lattice. Namely, we find explicit lattice expressions for the supersymmetry generators and currents. Writing the Hamiltonian in terms of these generators allows us to find the ground states exactly at a frustration-free coupling. These confirm the coexistence between two (topologically) ordered ground states and a disordered one in the gapped phase. Deforming the model by including explicit chiral symmetry breaking, we find the phases persist up to an unusual chiral phase transition where the supersymmetry becomes exact even on the lattice.

Disorders of carbohydrate or lipid metabolism in camelids.

PubMed

Cebra, Christopher K

2009-07-01

Camelids develop a number of disturbances related to energy metabolism. Some are similar to disorders seen in other species, but most relate to camelids' unusual characteristics of poor glucose tolerance, partial insulin resistance, and low concentrations of circulating insulin. Camelids are especially prone to abnormalities related to stimuli that inhibit insulin release or activity, or that promote activities normally antagonized by insulin. These include stimuli that mobilize glycogen or fat stores, or inhibit glucose uptake or intravascular glycolysis. These stimuli are generally more important than negative energy balance in triggering these disorders. Treatment must concentrate on the hormonal aspects, and not just provision of energy. Treatments related to hormonal aspects include those to decrease catecholamine release and to provide exogenous insulin until the camelid is again able to maintain appropriate energy substrate homeostasis.

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.

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.

Treatment of melasma with a depigmentation cream determined with colorimetry.

PubMed

Sabancilar, Emine; Aydin, Fatma; Bek, Yuksel; Ozden, Muge Guler; Ozcan, Muharrem; Senturk, Nilgün; Canturk, Tayyar; Turanli, Ahmet Yasar

2011-10-01

Melasma is a pigmentary disorder often recalcitrant to treatment. Few studies have objectively evaluated the efficacy of treatment colorimetrically. To evaluate the safety and efficacy of a depigmentation cream, including mainly glycolic acid and Rumex occidentalis. Twenty-seven patients applied the cream twice daily for the first 3 months and twice weekly for the following 3 months. L*, C* and h* values of the target lesions and the perilesional area were analyzed at baseline, 12 and 24 weeks colorimetrically. The physician and patient evaluated the clinical response rate. These results were compared statistically between the lesional and perilesional area. There was a significant difference between 0-12, 0-24 (L*, C* and h* values) and 12-24 weeks (L* value) (p <0.001). For C* and h* values, the difference was not significant between 12 and 24 weeks (p = 0.464 and 0.151, respectively). Statistical significance was detected only between 3 and 6 months for C* value (p < 0.05) for the lesional and the perilesional areas. Clinical response rate was significant (p < 0.05). Our depigmentation cream is a moderate effective agent, well tolerated and can be considered as an alternative treatment of melasma. Twice-daily application may enhance the efficacy of treatment instead of twice-weekly application in the maintenance period.

An atrophic, telangiectatic patch at the distal border of the tongue: a mucous membrane manifestation of xeroderma pigmentosum.

PubMed

Bologna, Sheyla Batista; Harumi Nakajima Teshima, Tathyane; Lourenço, Silvia Vanessa; Nico, Marcello Menta Simonsen

2014-01-01

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by clinical and cellular sensitivity, pigmentary changes, and early development of malignancies in sun-exposed mucocutaneous and ocular structures due to a defective ability to repair intracellular DNA damage. Individuals with XP also have a greater frequency of oral cancer, particularly squamous cell carcinoma of the anterior third of the tongue. The current study reports four cases of XP that exhibited a characteristic crescent-shaped, atrophic, telangiectatic area on the distal border of the tongue and correlates this lesion with the development of tumors at this site during follow-up. The tongue lesion was photographed and biopsied in the four patients. During routine follow-up visits, new biopsies were performed if additional tongue lesions were observed. The studied lesions were similar in the four patients. During follow-up, squamous cell carcinoma developed in one patient and pyogenic granuloma developed in three patients and was relapsing in one. The lesion remained stable in one patient during the study. The atrophic and telangiectatic patches probably occur because of chronic sun damage to the exposed portion of the tongue, and this area has a high predisposition for the development of benign and malignant tumors. © 2014 Wiley Periodicals, Inc.

Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum

PubMed Central

Zhou, Xiaolong; Khan, Sikandar G; Tamura, Deborah; Ueda, Takahiro; Boyle, Jennifer; Compe, Emmanuel; Egly, Jean-Marc; DiGiovanna, John J; Kraemer, Kenneth H

2013-01-01

XPD (ERCC2) is a DNA helicase involved in nucleotide excision repair and in transcription as a structural bridge tying the transcription factor IIH (TFIIH) core with the cdk-activating kinase complex, which phosphorylates nuclear receptors. Mutations in XPD are associated with several different phenotypes, including trichothiodystrophy (TTD), with sulfur-deficient brittle hair, bone defects, and developmental abnormalities without skin cancer, xeroderma pigmentosum (XP), with pigmentary abnormalities and increased skin cancer, or XP/TTD with combined features, including skin cancer. We describe the varied clinical features and mutations in nine patients examined at the National Institutes of Health who were compound heterozygotes for XPD mutations but had different clinical phenotypes: four TTD, three XP, and two combined XP/TTD. We studied TFIIH-dependent transactivation by nuclear receptor for vitamin D (VDR) and thyroid in cells from these patients. The vitamin D stimulation ratio of CYP24 and osteopontin was associated with specific pairs of mutations (reduced in 5, elevated in 1) but not correlated with distinct clinical phenotypes. Thyroid receptor stimulation ratio for KLF9 was not significantly different from normal. XPD mutations frequently were associated with abnormal VDR stimulation in compound heterozygote patients with TTD, XP, or XP/TTD. PMID:23232694

Visible Light Induces Melanogenesis in Human Skin through a Photoadaptive Response

PubMed Central

Randhawa, Manpreet; Seo, InSeok; Liebel, Frank; Southall, Michael D.; Kollias, Nikiforos; Ruvolo, Eduardo

2015-01-01

Visible light (400–700 nm) lies outside of the spectral range of what photobiologists define as deleterious radiation and as a result few studies have studied the effects of visible light range of wavelengths on skin. This oversight is important considering that during outdoors activities skin is exposed to the full solar spectrum, including visible light, and to multiple exposures at different times and doses. Although the contribution of the UV component of sunlight to skin damage has been established, few studies have examined the effects of non-UV solar radiation on skin physiology in terms of inflammation, and limited information is available regarding the role of visible light on pigmentation. The purpose of this study was to determine the effect of visible light on the pro-pigmentation pathways and melanin formation in skin. Exposure to visible light in ex-vivo and clinical studies demonstrated an induction of pigmentation in skin by visible light. Results showed that a single exposure to visible light induced very little pigmentation whereas multiple exposures with visible light resulted in darker and sustained pigmentation. These findings have potential implications on the management of photo-aggravated pigmentary disorders, the proper use of sunscreens, and the treatment of depigmented lesions. PMID:26121474

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.

Genetic and Phenotypic Heterogeneity in Chinese Patients with Waardenburg Syndrome Type II

PubMed Central

Yang, Shuzhi; Dai, Pu; Liu, Xin; Kang, Dongyang; Zhang, Xin; Yang, Weiyan; Zhou, Chengyong; Yang, Shiming; Yuan, Huijun

2013-01-01

Waardenburg Syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin. Microphthalmia-associated transcription factor (MITF) gene mutations account for about 15% of WS type II (WS2) cases. To date, fewer than 40 different MITF gene mutations have been identified in human WS2 patients, and few of these were of Chinese descent. In this study, we report clinical findings and mutation identification in the MITF gene of 20 Chinese WS2 patients from 14 families. A high level of clinical variability was identified. Sensorineural hearing loss (17/20, 85.0%) and heterochromia iridum (20/20, 100.0%) were the most commonly observed clinical features in Chinese WS2 patients. Five affected individuals (5/20, 25.0%) had numerous brown freckles on the face, trunk, and limb extremities. Mutation screening of the MITF gene identified five mutations: c.20A>G, c.332C>T, c.647_649delGAA, c.649A>G, and c.763C>T. The total mutational frequency of the MITF gene was 21.4% (3/14), which is significantly higher than the 15.0% observed in the fair-skinned WS2 population. Our results indicate that MITF mutations are relatively common among Chinese WS2 patients. PMID:24194866

Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.

PubMed

Yang, Shuzhi; Dai, Pu; Liu, Xin; Kang, Dongyang; Zhang, Xin; Yang, Weiyan; Zhou, Chengyong; Yang, Shiming; Yuan, Huijun

2013-01-01

Waardenburg Syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin. Microphthalmia-associated transcription factor (MITF) gene mutations account for about 15% of WS type II (WS2) cases. To date, fewer than 40 different MITF gene mutations have been identified in human WS2 patients, and few of these were of Chinese descent. In this study, we report clinical findings and mutation identification in the MITF gene of 20 Chinese WS2 patients from 14 families. A high level of clinical variability was identified. Sensorineural hearing loss (17/20, 85.0%) and heterochromia iridum (20/20, 100.0%) were the most commonly observed clinical features in Chinese WS2 patients. Five affected individuals (5/20, 25.0%) had numerous brown freckles on the face, trunk, and limb extremities. Mutation screening of the MITF gene identified five mutations: c.20A>G, c.332C>T, c.647_649delGAA, c.649A>G, and c.763C>T. The total mutational frequency of the MITF gene was 21.4% (3/14), which is significantly higher than the 15.0% observed in the fair-skinned WS2 population. Our results indicate that MITF mutations are relatively common among Chinese WS2 patients.

Identification and functional analysis of a novel mutation in the SOX10 gene associated with Waardenburg syndrome type IV.

PubMed

Wang, Hong-Han; Chen, Hong-Sheng; Li, Hai-Bo; Zhang, Hua; Mei, Ling-Yun; He, Chu-Feng; Wang, Xing-Wei; Men, Mei-Chao; Jiang, Lu; Liao, Xin-Bin; Wu, Hong; Feng, Yong

2014-03-15

Waardenburg syndrome type IV (WS4) is a rare genetic disorder, characterized by auditory-pigmentary abnormalities and Hirschsprung disease. Mutations of the EDNRB gene, EDN3 gene, or SOX10 gene are responsible for WS4. In the present study, we reported a case of a Chinese patient with clinical features of WS4. In addition, the three genes mentioned above were sequenced in order to identify whether mutations are responsible for the case. We revealed a novel nonsense mutation, c.1063C>T (p.Q355*), in the last coding exon of SOX10. The same mutation was not found in three unaffected family members or 100 unrelated controls. Then, the function and mechanism of the mutation were investigated in vitro. We found both wild-type (WT) and mutant SOX10 p.Q355* were detected at the expected size and their expression levels are equivalent. The mutant protein also localized in the nucleus and retained the DNA-binding activity as WT counterpart; however, it lost its transactivation capability on the MITF promoter and acted as a dominant-negative repressor impairing function of the WT SOX10. Copyright © 2014 Elsevier B.V. All rights reserved.

Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.

PubMed

Verheij, Johanna B G M; Sival, Deborah A; van der Hoeven, Johannes H; Vos, Yvonne J; Meiners, Linda C; Brouwer, Oebele F; van Essen, Anthonie J

2006-01-01

Shah-Waardenburg syndrome is a rare congenital disorder with variable clinical expression, characterised by aganglionosis of the rectosigmoïd (Hirschsprung disease), and abnormal melanocyte migration, resulting in pigmentary abnormalities and sensorineural deafness (Waardenburg syndrome). Mutations in the EDN, EDNRB and SOX10 genes can be found in patients with this syndrome. SOX10 mutations are specifically associated with a more severe phenotype called PCWH: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. Neuronal expression of SOX10 occurs in neural crest cells during early embryonic development and in glial cells of the peripheral and central nervous systems during late embryonic development and in adults. We present a 4-year-old girl with the PCWH phenotype associated with a de novo nonsense mutation (S384X) in SOX10. Main clinical features were mental retardation, peripheral neuropathy, deafness, Hirschsprung disease, distal arthrogryposis, white hairlock, and growth retardation. She presented with hypotonia, developmental delay, reduced peripheral nerve conduction velocities, and radiologically assessed central hypomyelination. Subsequently, the formation of abnormal myelin within the central and peripheral nervous system was functionally and radiologically assessed. Children presenting with features of Waardenburg syndrome and neurological dysfunction should be tested for mutations in the SOX10 gene to enable diagnosis and counselling.

A Sickle Cell Disease Patient with Severe Tricuspid Regurgitation and Early Developed Pulmonary Hypertension.

PubMed

Vaidya, Gaurang; Sarwar, Muhammad; Sun, Zongxia; Wei, Tiemin; Liu, Kan

2015-01-01

Pulmonary hypertension (PH) worsens the mortality of the patients with sickle cell disease (SCD). The exact mechanism of PH development/progression in SCD, including the role of tricuspid regurgitation (TR), remains unclear. We herein report an unusual SCD case, complicated by chronic thromboembolic disorder, who developed severe TR and an accelerated progression of PH. Tricuspid valve surgery significantly ameliorated the patient's symptoms and reduced hospital readmission. The early detection and management of the reversible disorder accelerating the PH development in SCD patients may alter the clinical course, improve the quality of life, and potentially affect the long-term outcome.

Autoextraction of twelve permanent teeth in a child with autistic spectrum disorder.

PubMed

Williams, Anne C

2016-03-01

This report discusses self-injurious behaviour; this is not unusual in people with autistic spectrum disorders but is not commonly experienced as autoextraction. This case concerns a 12 year old child who presented as a new patient with two teeth missing. He then went on to remove a further ten teeth over a relatively short space of time. The recognition of autoextraction by the dental team is important. its management involves a multidisciplinary team which includes professionals from education, health and social care who work together to prevent progressive self-injury. © 2015 BSPD, IAPD and John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Purulent Pericarditis with Salmonella enterica Subspecies arizona in a Patient with Type 2 Diabetes Mellitus

PubMed Central

Suzuki, Ai; Tanaka, Takamitsu; Ohba, Kenji; Ito, Naomi; Sakai, Yuki; Kaneko, Akane; Machii, Masashi; Nonaka, Daishi; Goto, Yoshie; Takase, Hiroyuki

2017-01-01

Purulent pericarditis is a life-threatening disorder, even in the modern antibiotic era. Although diabetes mellitus is known to be associated with an increased risk of multiple types of infections, purulent pericarditis is extremely rare. We herein report an unusual case of pericarditis caused by Salmonella enterica subspecies arizona that was not associated with any evident underlying immunosuppressive disorder apart from uncontrolled type 2 diabetes mellitus. Because a pet snake was suspected as being the source of infection in the present case, patient education and a detailed review of exposure history could play an important role in treating patients with diabetes mellitus. PMID:28781305

Relevance of Kondo physics for the temperature dependence of the bulk modulus in plutonium

DOE PAGES

Janoschek, Marc; Lander, Gerry; Lawrence, Jon M.; ...

2017-01-10

The recent PNAS paper by Migliori et al. (1) attempts to explain the unusually strong temperature dependence of the bulk modulus of fcc plutonium (δ-Pu) by use of the disordered local moment (DLM) model. It is our opinion that this approach does not correctly incorporate the dynamic magnetism of δ-Pu. We provide the following note as commentary.

Severe myopia with unusual retinal anomalies and Dandy-Walker sequence in two sibs. A distinct new neuro-ocular disorder.

PubMed

de Crecchio, Giuseppe; Cennamo, Gilda; de Leeuw, Nicole; Ventruto, Maria Luisa; Lonardo, Maria Concetta; Friso, Patrizia; Ventruto, Valerio

2013-12-01

We have observed a male and a female, sibs of non-consanguineous parents, affected by severe myopia with characteristic retinal defects and Dandy-Walker variant. The peculiarity of the retinopathy consists of pathological myopia with anomalous vitreal fenestrated membranes in the retinal periphery. We suppose that these associations may configure a new genetic syndrome.

Case report: a 70-year-old man with undiagnosed factor VII deficiency presented with acute ischemic stroke.

PubMed

Ip, Hing-Lung; Chan, Anne Yin-Yan; Ng, Kit-Chung; Soo, Yannie Oi-Yan; Wong, Lawrence Ka-Sing

2013-11-01

Factor VII deficiency is an uncommon coagulation disorder that patient usually presents with bleeding diathesis, but thrombotic event has been reported. We report a case of unusual clinical presentation in a patient with undiagnosed factor VII deficiency who presented with acute ischemic stroke. Copyright © 2013 National Stroke Association. Published by Elsevier Inc. All rights reserved.

Topiramate-induced somnambulism in a migraineur: a probable idiosyncratic adverse effect.

PubMed

Mathew, Thomas; Sarma, G R K; Nadig, Raghunandan; Varghese, Raji

2012-04-15

Somnambulism (sleepwalking) is a disorder of arousal that falls under "parasomnia" group and is more common in children. These phenomena occur as primary sleep events or secondary to systemic disease or can be drug induced. Medications that can cause sleepwalking include neuroleptics, hypnotics, lithium, amitriptyline, and β-blockers. This report presents an unusual adverse effect of topiramate on sleep in a patient with migraine.

Further evidence for a locus for autosomal dominant juvenile glaucoma on chromosome 1q and evidence for genetic heterogeneity

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

Wiggs, J.; Paglinauan, C.; Stawski, S.

1994-09-01

Glaucoma is a term used to describe a group of disorders which have in common a characteristic degeneration of the optic nerve associated with typical visual field defects and usually associated with elevated intraocular pressure. Two percent of white Americans and 6-10% of black Americans are affected by the disease. Compelling data indicate that susceptibility to many types of glaucoma is inherited. Hereditary juvenile glaucoma is one form of glaucoma that develops in children and is inherited as an autosomal dominant trait with high penetrance. Using a single large Caucasian pedigree affected with autosomal dominant juvenile glaucoma, Sheffield discovered positivemore » linkage to a group of markers that map to a 30 cM region on the long arm of chromosome 1 (1q21-q31). We have subsequently identified three unrelated Caucasian pedigrees affected with autosomal dominant juvenile glaucoma that also demonstrate linkage to this region on chromosome 1, with the highest combined lod score of 5.12 at theta = .05 for marker D1S218. The identification of critical recombinant individuals in our three pedigrees has allowed us to further localize the disease gene to a 12 cM region between markers D1S242 and D1S431. In addition, we have identified several pedigrees which do not demonstrate linkage to chromosome 1q, including a black family affected with autosomal dominant juvenile glaucoma that is indistinguishable clinically from the disorder affecting the caucasian pedigrees and three pedigrees affected with pigmentary dispersion syndrome, a form of glaucoma that also affects the juvenile population and is also inherited as an autosomal dominant trait. These findings provide evidence for genetic heterogeneity in juvenile glaucoma.« less

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.

Lingual dyskinesia and tics: a novel presentation of copper-metabolism disorder.

PubMed

Goez, Helly R; Jacob, Francois D; Yager, Jerome Y

2011-02-01

Copper is a trace element that is required for cellular respiration, neurotransmitter biosynthesis, pigment formation, antioxidant defense, peptide amidation, and formation of connective tissue. Abnormalities of copper metabolism have been linked with neurologic disorders that affect movement, such as Wilson disease and Menkes disease; however, the diagnosis of non-Wilson, non-Menkes-type copper-metabolism disorders has been more elusive, especially in cases with atypical characteristics. We present here the case of an adolescent with a novel presentation of copper-metabolism disorder who exhibited acute severe hemilingual dyskinesia and prominent tics, with ballismus of the upper limbs, but had normal brain and spinal MRI results and did not show any signs of dysarthria or dysphagia. His serum copper and ceruloplasmin levels were low, but his urinary copper level was elevated after penicillamine challenge. We conclude that copper-metabolism disorders should be included in the differential diagnosis for movement disorders, even in cases with highly unusual presentations, because many of them are treatable. Moreover, a connection between copper-metabolism disorders and tics is presented, to our knowledge, for the first time in humans; further investigation is needed to better establish this connection and understand its underlying pathophysiology.

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

Successful Treatment of an Unusual Case of FPLD2: The Role of Roux-en-Y Gastric Bypass-Case Report and Literature Review.

PubMed

Grundfest-Broniatowski, Sharon; Yan, JingLiang; Kroh, Matthew; Kilim, Holly; Stephenson, Andrew

2017-04-01

Familial partial lipodystrophy type 2 (FPLD2) is a rare disorder associated with LMNA gene mutations. It is usually marked by loss of subcutaneous fat on the limbs and trunk and severe insulin resistance. Scattered reports have indicated that Roux-en-Y bypass helps to control the diabetes mellitus in these patients. We present here a very unusual patient with FPLD2 who had life-threatening retroperitoneal and renal fat accumulation accompanied by bilateral renal cancers. Following cryotherapy of one renal cancer and a contralateral nephrectomy with debulking of the retroperitoneal fat, Roux-en-Y gastric bypass (RYGB) has successfully controlled the disease for 3 years. The clinical presentations and causes of FPLD are reviewed and the role of RYGB is discussed.

Precisely cyclic sand: self-organization of periodically sheared frictional grains.

PubMed

Royer, John R; Chaikin, Paul M

2015-01-06

The disordered static structure and chaotic dynamics of frictional granular matter has occupied scientists for centuries, yet there are few organizational principles or guiding rules for this highly hysteretic, dissipative material. We show that cyclic shear of a granular material leads to dynamic self-organization into several phases with different spatial and temporal order. Using numerical simulations, we present a phase diagram in strain-friction space that shows chaotic dispersion, crystal formation, vortex patterns, and most unusually a disordered phase in which each particle precisely retraces its unique path. However, the system is not reversible. Rather, the trajectory of each particle, and the entire frictional, many-degrees-of-freedom system, organizes itself into a limit cycle absorbing state. Of particular note is that fact that the cyclic states are spatially disordered, whereas the ordered states are chaotic.

Precisely cyclic sand: Self-organization of periodically sheared frictional grains

PubMed Central

Royer, John R.; Chaikin, Paul M.

2015-01-01

The disordered static structure and chaotic dynamics of frictional granular matter has occupied scientists for centuries, yet there are few organizational principles or guiding rules for this highly hysteretic, dissipative material. We show that cyclic shear of a granular material leads to dynamic self-organization into several phases with different spatial and temporal order. Using numerical simulations, we present a phase diagram in strain–friction space that shows chaotic dispersion, crystal formation, vortex patterns, and most unusually a disordered phase in which each particle precisely retraces its unique path. However, the system is not reversible. Rather, the trajectory of each particle, and the entire frictional, many–degrees-of-freedom system, organizes itself into a limit cycle absorbing state. Of particular note is that fact that the cyclic states are spatially disordered, whereas the ordered states are chaotic. PMID:25538298

Unusual multiple large abscesses of the liver: interest of the radiological features and the real-time PCR to distinguish between bacterial and amebic etiologies.

PubMed

Desoubeaux, Guillaume; Chaussade, Hélène; Thellier, Marc; Poussing, Sophie; Bastides, Frédéric; Bailly, Eric; Lanotte, Philippe; Alison, Daniel; Brunereau, Laurent; Bernard, Louis; Chandenier, Jacques

2014-01-01

We report a rare case of amebiasis generating 19 large liver abscesses. Such a quantity of abscesses is rare, especially when occurring in a young casual traveler without any immunodeficiency disorders. A possible co-infection was excluded. By contrast, the amebic etiology was confirmed by means of serology and real-time PCR.

Flexible fiber in interaction with a dense granular flow close to the jamming transition

NASA Astrophysics Data System (ADS)

Algarra, Nicolas; Leang, Marguerite; Lazarus, Arnaud; Vandembroucq, Damien; Kolb, Evelyne

2017-06-01

We propose a new fluid/structure interaction in the unusual case of a dense granular medium flowing against an elastic fiber acting as a flexible intruder. We study experimentally the reconfiguration and the forces exerted on the flexible fiber produced by the flow at a constant and low velocity of a two-dimensional disordered packing of grains close but below the jamming transition.

CT of the "Tegernsee Giant": juvenile gigantism and polyostotic fibrous dysplasia.

PubMed

Vogl, T J; Nerlich, A; Dresel, S H; Bergman, C

1994-01-01

We report the radiological findings in the unusual case of the Bavarian "Tegernsee Giant." With conventional radiography, CT, and histologic examination, we succeeded in diagnosing two disorders: The Tegernsee Giant suffered from (a) juvenile gigantism caused by a growth hormone-secreting tumor of the pituitary gland and (b) a polyostotic form of fibrous dysplasia of the skull and multiple bones particularly on the left side of the body.

Unusual molecular findings in Kindler syndrome.

PubMed

Arita, K; Wessagowit, V; Inamadar, A C; Palit, A; Fassihi, H; Lai-Cheong, J E; Pourreyron, C; South, A P; McGrath, J A

2007-12-01

Kindler syndrome (KS) is a rare inherited skin disorder with blistering and poikiloderma as its main clinical features. It is caused by loss-of-function mutations in the C20orf42 (KIND1) gene which encodes kindlin-1, an actin cytoskeleton-focal contact-associated protein which is predominantly expressed in keratinocytes. We investigated the molecular basis of KS in a 16-year-old Indian boy who had additional clinical findings, including scleroatrophic changes of the hands and feet, pseudoainhum and early onset of squamous cell carcinoma on his foot. Immunostaining for kindlin-1 in the patient's skin was completely absent and sequencing of C20orf42 (KIND1) genomic DNA showed a homozygous splice-site mutation at the -6 position, IVS9-6T-->A. Amplification and sequencing of cDNA from the skin revealed aberrant splicing with either deletion of exon 10 or deletion of exons 9, 10 and 11, both of which involve loss of the pleckstrin homology domain of kindlin-1 that is thought to play a role in cytoskeletal attachment and integrin-mediated cell signalling. Pathogenic splice-site mutations at the -6 position are unusual and have rarely been reported for any genetic disorder. Collectively, these findings extend the spectrum of clinical and molecular abnormalities in this rare genodermatosis.

Embouchure dystonia--Portrait of a task-specific cranial dystonia.

PubMed

Frucht, Steven J

2009-09-15

Focal task-specific dystonia (FTSD) is an unusual disorder of motor control, which typically affects the hand but may also involve the face, jaw, and tongue. We report 89 musicians with dystonia of the embouchure (ED), the muscles of the lower face, jaw, and tongue used to control the flow of air into the mouthpiece of a woodwind or brass instrument. Symptoms of ED began at an average age of 36, were typically painless and only rarely were preceded by trauma. Specific musical techniques commonly triggered dystonia, often in one instrumental register. Task-specific embouchure tremor and lip-pulling ED phenotypes were common among high-register brass players (trumpet and French horn), whereas lip-locking occurred exclusively in low-register brass players (trombone and tuba). Jaw and tongue ED phenotypes occurred predominantly in woodwind players, and once present, frequently spread to speaking or eating. Six percent of all ED patients had coincident writer's cramp, suggesting a possible genetic predisposition to develop dystonia. We assessed two-point sensory discrimination in the upper lip, lower lip, and hand in ED patients, normal musicians, and nonmusician age-matched controls--there were no differences between groups. Once present, symptoms of ED did not remit and often disrupted careers and livelihoods. Better treatments are urgently needed for this unusual disorder of oral motor control.

An unusual association of headache, epilepsy, and late-onset Kleist's pseudodepression syndrome in frontal lobe cavernoma of the cerebral left hemisphere.

PubMed

Chirchiglia, Domenico; Della Torre, Attilio; Murrone, Domenico; Chirchiglia, Pasquale; Marotta, Rosa

2017-01-01

Cerebral cavernous angioma or cavernoma is a benign vascular malformation, usually asymptomatic. It is infrequent and often its discovery is incidental, a so-called incidentaloma. However, these lesions can be symptomatic, causing headaches, epilepsy, cerebral hemorrhage and other neurological signs depending on the brain area involved. Frontal localization is responsible for psychiatric disorders, particularly the prefrontal region, leading to prefrontal syndrome, a condition common in all frontal lobe tumors. Psychopathological syndrome can be depression-type, pseudodepression syndrome or maniac-type, pseudomaniac syndrome. Surgical treatment of lesions like this may not always be possible due to their location in eloquent areas. In this study, we describe an unusual association of migraine-like headache, epilepsy and frontal lobe pseudodepression late-onset syndrome in the same patient. We have considered this case interesting mainly for the rarity of both a headache with migraine features and for the late onset of pseudodepression syndrome. Pathophysiology underlying migraine-like headache and that concerning the late-onset pseudodepression frontal lobe syndrome seems to be unclear. This case leads to further hypotheses about the mechanisms responsible for headache syndromes and psychopathological disorders, in the specific case when caused by a cerebral frontal lobe lesion.

Origin of unusual bandgap shift and dual emission in organic-inorganic lead halide perovskites

PubMed Central

Dar, M. Ibrahim; Jacopin, Gwénolé; Meloni, Simone; Mattoni, Alessandro; Arora, Neha; Boziki, Ariadni; Zakeeruddin, Shaik Mohammed; Rothlisberger, Ursula; Grätzel, Michael

2016-01-01

Emission characteristics of metal halide perovskites play a key role in the current widespread investigations into their potential uses in optoelectronics and photonics. However, a fundamental understanding of the molecular origin of the unusual blueshift of the bandgap and dual emission in perovskites is still lacking. In this direction, we investigated the extraordinary photoluminescence behavior of three representatives of this important class of photonic materials, that is, CH3NH3PbI3, CH3NH3PbBr3, and CH(NH2)2PbBr3, which emerged from our thorough studies of the effects of temperature on their bandgap and emission decay dynamics using time-integrated and time-resolved photoluminescence spectroscopy. The low-temperature (<100 K) photoluminescence of CH3NH3PbI3 and CH3NH3PbBr3 reveals two distinct emission peaks, whereas that of CH(NH2)2PbBr3 shows a single emission peak. Furthermore, irrespective of perovskite composition, the bandgap exhibits an unusual blueshift by raising the temperature from 15 to 300 K. Density functional theory and classical molecular dynamics simulations allow for assigning the additional photoluminescence peak to the presence of molecularly disordered orthorhombic domains and also rationalize that the unusual blueshift of the bandgap with increasing temperature is due to the stabilization of the valence band maximum. Our findings provide new insights into the salient emission properties of perovskite materials, which define their performance in solar cells and light-emitting devices. PMID:27819049

Origin of unusual bandgap shift and dual emission in organic-inorganic lead halide perovskites.

PubMed

Dar, M Ibrahim; Jacopin, Gwénolé; Meloni, Simone; Mattoni, Alessandro; Arora, Neha; Boziki, Ariadni; Zakeeruddin, Shaik Mohammed; Rothlisberger, Ursula; Grätzel, Michael

2016-10-01

Emission characteristics of metal halide perovskites play a key role in the current widespread investigations into their potential uses in optoelectronics and photonics. However, a fundamental understanding of the molecular origin of the unusual blueshift of the bandgap and dual emission in perovskites is still lacking. In this direction, we investigated the extraordinary photoluminescence behavior of three representatives of this important class of photonic materials, that is, CH 3 NH 3 PbI 3 , CH 3 NH 3 PbBr 3 , and CH(NH 2 ) 2 PbBr 3 , which emerged from our thorough studies of the effects of temperature on their bandgap and emission decay dynamics using time-integrated and time-resolved photoluminescence spectroscopy. The low-temperature (<100 K) photoluminescence of CH 3 NH 3 PbI 3 and CH 3 NH 3 PbBr 3 reveals two distinct emission peaks, whereas that of CH(NH 2 ) 2 PbBr 3 shows a single emission peak. Furthermore, irrespective of perovskite composition, the bandgap exhibits an unusual blueshift by raising the temperature from 15 to 300 K. Density functional theory and classical molecular dynamics simulations allow for assigning the additional photoluminescence peak to the presence of molecularly disordered orthorhombic domains and also rationalize that the unusual blueshift of the bandgap with increasing temperature is due to the stabilization of the valence band maximum. Our findings provide new insights into the salient emission properties of perovskite materials, which define their performance in solar cells and light-emitting devices.

Autosomal recessive Oliver-McFarlane syndrome: retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction).

PubMed

Haimi, Motti; Gershoni-Baruch, Ruth

2005-10-15

We describe a brother and sister with retinitis pigmentosa (RP), growth failure, long eyelashes, and sparse hair. They were born to young healthy consanguineous parents and presented at birth with IUGR. Evolving pigmentary retinopathy was diagnosed at the age of 5 years. A similar condition (Oliver-McFarlane) syndrome was reported previously. Our two sibs confirm the existence of this autosomal recessive syndrome.

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

Tank-Binding Kinase 1 (TBK1) Gene and Open-Angle Glaucomas (An American Ophthalmological Society Thesis)

PubMed Central

Fingert, John H.; Robin, Alan L.; Scheetz, Todd E.; Kwon, Young H.; Liebmann, Jeffrey M.; Ritch, Robert; Alward, Wallace L.M.

2016-01-01

Purpose To investigate the role of TANK-binding kinase 1 (TBK1) gene copy-number variations (ie, gene duplications and triplications) in the pathophysiology of various open-angle glaucomas. Methods In previous studies, we discovered that copy-number variations in the TBK1 gene are associated with normal-tension glaucoma. Here, we investigated the prevalence of copy-number variations in cohorts of patients with other open-angle glaucomas—juvenile-onset open-angle glaucoma (n=30), pigmentary glaucoma (n=209), exfoliation glaucoma (n=225), and steroid-induced glaucoma (n=79)—using a quantitative polymerase chain reaction assay. Results No TBK1 gene copy-number variations were detected in patients with juvenile-onset open-angle glaucoma, pigmentary glaucoma, or steroid-induced glaucoma. A TBK1 gene duplication was detected in one (0.44%) of the 225 exfoliation glaucoma patients. Conclusions TBK1 gene copy-number variations (gene duplications and triplications) have been previously associated with normal-tension glaucoma. An exploration of other open-angle glaucomas detected a TBK1 copy-number variation in a patient with exfoliation glaucoma, which is the first example of a TBK1 mutation in a glaucoma patient with a diagnosis other than normal-tension glaucoma. A broader phenotypic range may be associated with TBK1 copy-number variations, although mutations in this gene are most often detected in patients with normal-tension glaucoma. PMID:27881886

Tank-Binding Kinase 1 (TBK1) Gene and Open-Angle Glaucomas (An American Ophthalmological Society Thesis).

PubMed

Fingert, John H; Robin, Alan L; Scheetz, Todd E; Kwon, Young H; Liebmann, Jeffrey M; Ritch, Robert; Alward, Wallace L M

2016-08-01

To investigate the role of TANK-binding kinase 1 ( TBK1 ) gene copy-number variations (ie, gene duplications and triplications) in the pathophysiology of various open-angle glaucomas. In previous studies, we discovered that copy-number variations in the TBK1 gene are associated with normal-tension glaucoma. Here, we investigated the prevalence of copy-number variations in cohorts of patients with other open-angle glaucomas-juvenile-onset open-angle glaucoma (n=30), pigmentary glaucoma (n=209), exfoliation glaucoma (n=225), and steroid-induced glaucoma (n=79)-using a quantitative polymerase chain reaction assay. No TBK1 gene copy-number variations were detected in patients with juvenile-onset open-angle glaucoma, pigmentary glaucoma, or steroid-induced glaucoma. A TBK1 gene duplication was detected in one (0.44%) of the 225 exfoliation glaucoma patients. TBK1 gene copy-number variations (gene duplications and triplications) have been previously associated with normal-tension glaucoma. An exploration of other open-angle glaucomas detected a TBK1 copy-number variation in a patient with exfoliation glaucoma, which is the first example of a TBK1 mutation in a glaucoma patient with a diagnosis other than normal-tension glaucoma. A broader phenotypic range may be associated with TBK1 copy-number variations, although mutations in this gene are most often detected in patients with normal-tension glaucoma.

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.

[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.

Arrestin gene mutations in autosomal recessive retinitis pigmentosa.

PubMed

Nakazawa, M; Wada, Y; Tamai, M

1998-04-01

To assess the clinical and molecular genetic studies of patients with autosomal recessive retinitis pigmentosa associated with a mutation in the arrestin gene. Results of molecular genetic screening and case reports with DNA analysis and clinical features. University medical center. One hundred twenty anamnestically unrelated patients with autosomal recessive retinitis pigmentosa. DNA analysis was performed by single strand conformation polymorphism followed by nucleotide sequencing to search for a mutation in exon 11 of the arrestin gene. Clinical features were characterized by visual acuity slitlamp biomicroscopy, fundus examinations, fluorescein angiography, kinetic visual field testing, and electroretinography. We identified 3 unrelated patients with retinitis pigmentosa associated with a homozygous 1-base-pair deletion mutation in codon 309 of the arrestin gene designated as 1147delA. All 3 patients showed pigmentary retinal degeneration in the midperipheral area with or without macular involvement. Patient 1 had a sibling with Oguchi disease associated with the same mutation. Patient 2 demonstrated pigmentary retinal degeneration associated with a golden-yellow reflex in the peripheral fundus. Patients 1 and 3 showed features of retinitis pigmentosa without the golden-yellow fundus reflex. Although the arrestin 1147delA has been known as a frequent cause of Oguchi disease, this mutation also may be related to the pathogenesis of autosomal recessive retinitis pigmentosa. This phenomenon may provide evidence of variable expressivity of the mutation in the arrestin gene.

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

Suffering in silence: why a developmental psychopathology perspective on selective mutism is needed.

PubMed

Cohan, Sharon L; Price, Joseph M; Stein, Murray B

2006-08-01

A developmental psychopathology perspective is offered in an effort to organize the existing literature regarding the etiology of selective mutism (SM), a relatively rare disorder in which a child consistently fails to speak in 1 or more social settings (e.g., school) despite speaking normally in other settings (e.g., home). Following a brief description of the history, prevalence, and course of the disorder, multiple pathways to the development of SM are discussed, with a focus on the various genetic, temperamental, psychological, and social/environmental systems that may be important in conceptualizing this unusual childhood disorder. The authors propose that SM develops due to a series of complex interactions among the various systems reviewed (e.g., a strong genetic loading for anxiety interacts with an existing communication disorder, resulting in heightened sensitivity to verbal interactions and mutism in some settings). Suggestions are provided for future longitudinal, twin/adoption, molecular genetic, and neuroimaging studies that would be particularly helpful in testing the pathways perspective on SM.

Multivalency regulates activity in an intrinsically disordered transcription factor

PubMed Central

Clark, Sarah; Myers, Janette B; King, Ashleigh; Fiala, Radovan; Novacek, Jiri; Pearce, Grant; Heierhorst, Jörg; Reichow, Steve L

2018-01-01

The transcription factor ASCIZ (ATMIN, ZNF822) has an unusually high number of recognition motifs for the product of its main target gene, the hub protein LC8 (DYNLL1). Using a combination of biophysical methods, structural analysis by NMR and electron microscopy, and cellular transcription assays, we developed a model that proposes a concerted role of intrinsic disorder and multiple LC8 binding events in regulating LC8 transcription. We demonstrate that the long intrinsically disordered C-terminal domain of ASCIZ binds LC8 to form a dynamic ensemble of complexes with a gradient of transcriptional activity that is inversely proportional to LC8 occupancy. The preference for low occupancy complexes at saturating LC8 concentrations with both human and Drosophila ASCIZ indicates that negative cooperativity is an important feature of ASCIZ-LC8 interactions. The prevalence of intrinsic disorder and multivalency among transcription factors suggests that formation of heterogeneous, dynamic complexes is a widespread mechanism for tuning transcriptional regulation. PMID:29714690

Parent-reported and clinician-observed autism spectrum disorder (ASD) symptoms in children with attention deficit/hyperactivity disorder (ADHD): implications for practice under DSM-5.

PubMed

Grzadzinski, Rebecca; Dick, Catherine; Lord, Catherine; Bishop, Somer

2016-01-01

Children with attention deficit/hyperactivity disorder (ADHD) often present with social difficulties, though the extent to which these clearly overlap with symptoms of autism spectrum disorder (ASD) is not well understood. We explored parent-reported and directly-observed ASD symptoms on the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS) in children referred to ASD-specialty clinics who received diagnoses of either ADHD (n = 48) or ASD (n = 164). Of the ADHD sample, 21 % met ASD cut-offs on the ADOS and 30 % met ASD cut-offs on all domains of the ADI-R. Four social communication ADOS items (Quality of Social Overtures, Unusual Eye Contact, Facial Expressions Directed to Examiner, and Amount of Reciprocal Social Communication) adequately differentiated the groups while none of the items on the ADI-R met the criteria for adequate discrimination. Results of this work highlight the challenges that clinicians and researchers face when distinguishing ASD from other disorders in verbally fluent, school-age children.

Pressure-induced transition from a spin glass to an itinerant ferromagnet in the half-doped manganite L0.5Ba0.5MnO3 (L=Sm and Nd) with quenched disorder

NASA Astrophysics Data System (ADS)

Takeshita, N.; Terakura, C.; Akahoshi, D.; Tokura, Y.; Takagi, H.

2004-05-01

The effect of quenched disorder on the multiphase competition has been investigated by examining the pressure phase diagram of the half-doped manganite L0.5Ba0.5MnO3 (L=Sm and Nd) with A-site disorders. Sm0.5Ba0.5MnO3, a spin-glass insulator at ambient pressure, switches to a ferromagnetic metal through an intermediate state with increasing pressure, followed by a rapid increase of the ferromagnetic transition temperature TC. The rapid increase of TC was also confirmed for Nd0.5Ba0.5MnO3. These observations indicate that the unusual suppression of the multicritical phase boundary in the A-site disordered system, previously observed as a function of the averaged A-site ionic radius, is essentially controlled by the pressure and hence the bandwidth. The effect of quenched disorder is therefore much more enhanced with approaching the multicritical region.

Influence of disorder on the superconducting critical temperature in indium-opal nanocomposites

NASA Astrophysics Data System (ADS)

Zakharchuk, I.; Januzaj, A.; Mikhailin, N. Yu.; Traito, K. B.; Chernyaev, A. V.; Romanov, S. G.; Safonchik, M.; Shamshur, D. V.; Lähderanta, E.

2018-06-01

Transport properties of bulk indium-opal and indium-porous glass superconducting nanocomposites possessing moderate and strong disorder are investigated. A strongly nonmonotonous dependence of the global critical temperature Tc versus normal state conductivity of samples is found. The maximum, which is observed at moderate disorder, has Tc higher than that of clean bulk indium. The increasing part can be explained by the Eliashberg equations with disorder and an additional mechanism of interaction between superconducting and dielectric granules. The descending part of the maximum at higher disorder can be explained by the increasing of long-range Coulomb repulsion due to diffusion of charges. Negative slope in magnetic field dependence of resistivity and a peak in the temperature dependence of resistivity, observed in the sample near the proximity to the disorder-induced superconductor-insulator transition (SIT). A large difference between the onset temperature of superconducting fluctuations, Tcon , and global critical temperature Tc is found and considered in the framework of the weak multifractal theory. Slow time-logarithmic relaxation of the resistivity between Tc and Tcon is observed, which assumes existence of the precursor state near the SIT. This unusual state is discussed in the scope of the many-body localization theory.

Hemophagocytic syndrome as one of the main primary manifestations in acute systemic lupus erythematosus--case report and literature review.

PubMed

Carvalheiras, G; Anjo, D; Mendonça, T; Vasconcelos, C; Farinha, F

2010-05-01

Hemophagocytic syndrome is an unusual but fatal disorder characterized by pancytopenia and activation of macrophages. We describe one case of acute systemic lupus erythematosus with an unusual presentation of hemophagocytic syndrome not related to infection. The patient presented with pancytopenia related to increasing hemophagocytic activity of histiocytes in the bone marrow. Concomitant class IV World Health Organization lupus nephritis, serositis, high titer of antinuclear factor and positive test for anti-DNA antibody fitted the diagnostic criteria of systemic lupus erythematosus. She also presented with alveolar hemorrhage and lupus myocarditis. She underwent immunosuppressive therapy with recovery from the hemophagocytic syndrome. Therefore, diagnosis of acute lupus hemophagocytic syndrome was made. The clinical presentation, laboratory diagnosis, and management of the patient are discussed and the literature was reviewed and presented, with emphasis on a possible distinct lupus subset, which includes a more aggressive systemic disease with heart involvement.

Meningitis and Riga-Fede disease: an unusual condition.

PubMed

Picciotti, M; DiVece, L; Viviano, M; Giorgio, A; Lorenzini, G

2014-07-01

Riga-Fede disease (RFD) is a benign inflammatory disorder characterised by the appearance of a traumatic ulceration of the oral mucosa. Early detection of RFD and its adequate management are very important. The authors present a an unusual case of RFD with concomitant Staphylococcus aureus meningitis. A 36-day-old female infant was referred to the emergency room of the Hospital of the University of Siena for a 4-day history of high fever. Clinical evaluation revealed the presence of lingual ulceration caused by natal tooth. Few hours later, clinical manifestations were overshadowed by neurological symptoms. The cerebrospinal fluid examination showed the presence of Staphylococcus aureus. The wound healing after extraction of the tooth and the antibiotic therapy have been important for the resolution of this case. A conservative approach is preferable for natal teeth, but in this case the extraction was suggested since a more radical treatment was more likely to avoid major complications.

Diagnosis and hypnotic treatment of an unusual case of hysterical amnesia.

PubMed

Iglesias, Alex; Iglesias, Adam

2009-10-01

This article reports on the use of hypnosis to facilitate the diagnostic process and the treatment of an unusual case of adult psychogenic amnesia. An Iraqi citizen living in the U.S. developed an atypical case of Dissociative Amnesia, Systematized type, post-automotive collision. The amnesia presented with features encompassing complete loss of the patient's native language. Dissociation theory as a conceptualization of hysterical reactions was employed as the basis in the formulation of this case. The differential diagnosis was facilitated by the Hypnotic Diagnostic Interview for Hysterical Disorders (HDIHD) Adult Form, an interview tool specifically designed for cases such as this. Treatment consisted exclusively of ego strengthening and time projection approaches in hypnosis. It was hypothesized that, as the coping capacities became more viable, the dissociative symptoms would remiss. After 6 weekly visits the patient regained complete command of his native language. Follow-up at 6 months indicated that the patient remained devoid of symptoms.

Acquired von Willebrand Syndrome Associated to Secondary IgM MGUS Emerging after Autologous Stem Cell Transplantation for AL Amyloidosis

PubMed Central

Qamar, Hina; Lee, Adrienne; Valentine, Karen; Skeith, Leslie; Jimenez-Zepeda, Victor H

2017-01-01

Acquired von Willebrand syndrome (AVWS) is a rare hemorrhagic disorder that occurs in patients with no prior personal or family history of bleeding. Here, we describe a case of AVWS occurring after autologous stem cell transplantation (ASCT). Interestingly, AVWS developed after bortezomib-based induction and conditioning regimens. Recent evidence suggests that the proximity of the bortezomib therapy to the collection of stem cells with consequent depletion of regulatory T cells after the conditioning regimen could explain some of the unusual autoimmune complications reported in patients receiving bortezomib prior to ASCT. In addition, this patient developed a secondary MGUS post-ASCT, which may have also contributed to the AVWS. To the best of our knowledge, this is the first case of post-ASCT AVWS reported. Prospective data is needed to better elucidate the mechanisms by which these unusual complications occur in patients receiving bortezomib prior to ASCT. PMID:28512563

Acquired von Willebrand Syndrome Associated to Secondary IgM MGUS Emerging after Autologous Stem Cell Transplantation for AL Amyloidosis.

PubMed

Qamar, Hina; Lee, Adrienne; Valentine, Karen; Skeith, Leslie; Jimenez-Zepeda, Victor H

2017-01-01

Acquired von Willebrand syndrome (AVWS) is a rare hemorrhagic disorder that occurs in patients with no prior personal or family history of bleeding. Here, we describe a case of AVWS occurring after autologous stem cell transplantation (ASCT). Interestingly, AVWS developed after bortezomib-based induction and conditioning regimens. Recent evidence suggests that the proximity of the bortezomib therapy to the collection of stem cells with consequent depletion of regulatory T cells after the conditioning regimen could explain some of the unusual autoimmune complications reported in patients receiving bortezomib prior to ASCT. In addition, this patient developed a secondary MGUS post-ASCT, which may have also contributed to the AVWS. To the best of our knowledge, this is the first case of post-ASCT AVWS reported. Prospective data is needed to better elucidate the mechanisms by which these unusual complications occur in patients receiving bortezomib prior to ASCT.

[The physician as Sherlock Holmes. Accident, murder by poisoning or suicide?].

PubMed

Penning, R

2001-12-06

Any case of unclear or atypical clinical presentation must arouse a suspicion of poisoning. Although pathognomonic findings are rare, there may nevertheless be an accumulation of signs and symptoms. These include impairment of consciousness, vertigo, headache, circulatory disorders, cramps/convulsions, vomiting, diarrhea and abdominal pains. Forensic terminology differentiates between outside influence, self-poisoning and accidental poisoning. In the former case, substances are used that are deadly in small amounts, and are unremarkable in appearance, smell and taste. The poisons used by suicides are usually commonly used poisonous substances that are freely available to purchasers. For forensic purposes, it is essential that specimens of blood, urine or stomach contents be obtained for toxicological investigations. Inspection of the corpse must routinely include a search for unusual signs (e.g. traces of powder around the mouth, foam at the mouth and nose, desiccation, unusual postmortem lividity, hair loss, etc.).

Granulomatous lobular mastitis.

PubMed

Zhou, Fei; Yu, Li-Xiang; Ma, Zhong-Bing; Yu, Zhi-Gang

2016-03-01

Granulomatous lobular mastitis is an unusual breast benign inflammatory disorder with unknown aetiology. It is generally emerged with the clinical symptoms of breast mass, abscess, inflammation and mammary duct fistula. The diagnosis is made by histopathology with a chronic non-necrotizing granulomatous inflammation in lobules of the breast tissue as the microscopic feature. Therapy of granulomatous lobular mastitis consists of surgical, medication treatment or combination of both, but now researches suggest that observational management is an acceptable treatment.

Granulosis Rubra Nasi Response to Topical Tacrolimus.

PubMed

Taj, Farhana Tahseen; Vupperla, Divya; Desai, Prarthana B

2017-01-01

Granulosis Rubra Nasi (GRN) is a rare disorder of the eccrine glands. It is clinically characterized by hyperhidrosis of the central part of the face, most commonly on the tip of the nose, followed by appearance of diffuse erythema over the nose, cheeks, chin, and upper lip. It is commonly seen in childhood but it can present in adults. Here we report a case of GRN in an adult patient with very unusual histopathological presentation.

A new clinical feature associated with familial early-onset of dystonic-guttural tics: An unusual diagnosis of PANDAS.

PubMed

Vitaliti, Giovanna; Trifiletti, Rosario R; Falsaperla, Raffaele; Parano, Enrico; Spalice, Alberto; Pavone, Piero

2014-01-01

Until today there is a large debate about the existence of PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections) or PANS (pediatric acute onset neuropsychiatric syndrome). These children usually have dramatic, "overnight" onset of symptoms, including motor or vocal tics, obsessions, and/or compulsions. In addition to these symptoms, children may also have comorbid features of associated disorders. Herein, we report a family with an early onset of tics, with exclusively dystonic and guttural tics. All patients had a particularly strong excitement trigger. Two of the patients were shown to have signs suggestive of PANDAS and all family members were Group A beta-hemolytic Streptococcus (GABHS) carriers. The PANDAS spectrum is probably a group of disorders. We have described a PANDAS variant, in which the family seems to share common autoimmune pattern and may be viewed in the large spectrum of PANDAS.

Entropic contributions enhance polarity compensation for CeO2(100) surfaces

NASA Astrophysics Data System (ADS)

Capdevila-Cortada, Marçal; López, Núria

2017-03-01

Surface structure controls the physical and chemical response of materials. Surface polar terminations are appealing because of their unusual properties but they are intrinsically unstable. Several mechanisms, namely metallization, adsorption, and ordered reconstructions, can remove thermodynamic penalties rendering polar surfaces partially stable. Here, for CeO2(100), we report a complementary stabilization mechanism based on surface disorder that has been unravelled through theoretical simulations that: account for surface energies and configurational entropies; show the importance of the ion distribution degeneracy; and identify low diffusion barriers between conformations that ensure equilibration. Disordered configurations in oxides might also be further stabilized by preferential adsorption of water. The entropic stabilization term will appear for surfaces with a high number of empty sites, typically achieved when removing part of the ions in a polar termination to make the layer charge zero. Assessing the impact of surface disorder when establishing new structure-activity relationships remains a challenge.

Similar Brain Activation during False Belief Tasks in a Large Sample of Adults with and without Autism

PubMed Central

Dufour, Nicholas; Redcay, Elizabeth; Young, Liane; Mavros, Penelope L.; Moran, Joseph M.; Triantafyllou, Christina; Gabrieli, John D. E.; Saxe, Rebecca

2013-01-01

Reading about another person’s beliefs engages ‘Theory of Mind’ processes and elicits highly reliable brain activation across individuals and experimental paradigms. Using functional magnetic resonance imaging, we examined activation during a story task designed to elicit Theory of Mind processing in a very large sample of neurotypical (N = 462) individuals, and a group of high-functioning individuals with autism spectrum disorders (N = 31), using both region-of-interest and whole-brain analyses. This large sample allowed us to investigate group differences in brain activation to Theory of Mind tasks with unusually high sensitivity. There were no differences between neurotypical participants and those diagnosed with autism spectrum disorder. These results imply that the social cognitive impairments typical of autism spectrum disorder can occur without measurable changes in the size, location or response magnitude of activity during explicit Theory of Mind tasks administered to adults. PMID:24073267

Mott-Hubbard transition and Anderson localization: A generalized dynamical mean-field theory approach

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

Kuchinskii, E. Z.; Nekrasov, I. A.; Sadovskii, M. V.

The DOS, the dynamic (optical) conductivity, and the phase diagram of a strongly correlated and strongly disordered paramagnetic Anderson-Hubbard model are analyzed within the generalized dynamical mean field theory (DMFT + {sigma} approximation). Strong correlations are taken into account by the DMFT, and disorder is taken into account via an appropriate generalization of the self-consistent theory of localization. The DMFT effective single-impurity problem is solved by a numerical renormalization group (NRG); we consider the three-dimensional system with a semielliptic DOS. The correlated metal, Mott insulator, and correlated Anderson insulator phases are identified via the evolution of the DOS and dynamicmore » conductivity, demonstrating both the Mott-Hubbard and Anderson metal-insulator transition and allowing the construction of the complete zero-temperature phase diagram of the Anderson-Hubbard model. Rather unusual is the possibility of a disorder-induced Mott insulator-to-metal transition.« less

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

Noonan syndrome - a new survey.

PubMed

Tafazoli, Alireza; Eshraghi, Peyman; Koleti, Zahra Kamel; Abbaszadegan, Mohammadreza

2017-02-01

Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. Germline mutations in the RAS-MAPK (mitogen-activated protein kinase) signal transduction pathway are responsible for NS and other related disorders. Noonan syndrome diagnosis is primarily based on clinical features, but molecular testing should be performed to confirm it in patients. Due to the high number of genes associated with NS and other RASopathy disorders, next-generation sequencing is the best choice for diagnostic testing. Patients with NS also have higher risk for leukemia and specific solid tumors. Age-specific guidelines for the management of NS are available.

Noonan syndrome – a new survey

PubMed Central

Tafazoli, Alireza; Eshraghi, Peyman; Koleti, Zahra Kamel

2016-01-01

Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. Germline mutations in the RAS-MAPK (mitogen-activated protein kinase) signal transduction pathway are responsible for NS and other related disorders. Noonan syndrome diagnosis is primarily based on clinical features, but molecular testing should be performed to confirm it in patients. Due to the high number of genes associated with NS and other RASopathy disorders, next-generation sequencing is the best choice for diagnostic testing. Patients with NS also have higher risk for leukemia and specific solid tumors. Age-specific guidelines for the management of NS are available. PMID:28144274

Anomalous Hooke’s law in disordered graphene

NASA Astrophysics Data System (ADS)

Gornyi, I. V.; Kachorovskii, V. Yu; Mirlin, A. D.

2017-03-01

The discovery of graphene, a single monolayer of graphite, has provided an experimental demonstration of stability of 2D crystals. Although thermal fluctuations of such crystals tend to destroy the long-range order in the system, the crystal can be stabilized by strong anharmonicity effects. This competition is the central issue of the crumpling transition, i.e., a transition between flat and crumpled phases. We show that anharmonicity-controlled fluctuations of a graphene membrane around equilibrium flat phase lead to unusual elastic properties. In particular, we demonstrate that stretching ξ of a flake of graphene is a nonlinear function of the applied tension at small tension: ξ \\propto {σ }η /(2-η ) and ξ \\propto {σ }η /(8-η ) for clean and strongly disordered graphene, respectively. Conventional linear Hooke’s law, ξ \\propto σ , is realized at sufficiently large tensions: σ \\gg {σ }* , where {σ }* depends both on temperature and on the disorder strength.

Disorder-induced Room Temperature Ferromagnetism in Glassy Chromites

PubMed Central

Araujo, C. Moyses; Nagar, Sandeep; Ramzan, Muhammad; Shukla, R.; Jayakumar, O. D.; Tyagi, A. K.; Liu, Yi-Sheng; Chen, Jeng-Lung; Glans, Per-Anders; Chang, Chinglin; Blomqvist, Andreas; Lizárraga, Raquel; Holmström, Erik; Belova, Lyubov; Guo, Jinghua; Ahuja, Rajeev; Rao, K. V.

2014-01-01

We report an unusual robust ferromagnetic order above room temperature upon amorphization of perovskite [YCrO3] in pulsed laser deposited thin films. This is contrary to the usual expected formation of a spin glass magnetic state in the resulting disordered structure. To understand the underlying physics of this phenomenon, we combine advanced spectroscopic techniques and first-principles calculations. We find that the observed order-disorder transformation is accompanied by an insulator-metal transition arising from a wide distribution of Cr-O-Cr bond angles and the consequent metallization through free carriers. Similar results also found in YbCrO3-films suggest that the observed phenomenon is more general and should, in principle, apply to a wider range of oxide systems. The ability to tailor ferromagnetic order above room temperature in oxide materials opens up many possibilities for novel technological applications of this counter intuitive effect. PMID:24732685

Similar brain activation during false belief tasks in a large sample of adults with and without autism.

PubMed

Dufour, Nicholas; Redcay, Elizabeth; Young, Liane; Mavros, Penelope L; Moran, Joseph M; Triantafyllou, Christina; Gabrieli, John D E; Saxe, Rebecca

2013-01-01

Reading about another person's beliefs engages 'Theory of Mind' processes and elicits highly reliable brain activation across individuals and experimental paradigms. Using functional magnetic resonance imaging, we examined activation during a story task designed to elicit Theory of Mind processing in a very large sample of neurotypical (N = 462) individuals, and a group of high-functioning individuals with autism spectrum disorders (N = 31), using both region-of-interest and whole-brain analyses. This large sample allowed us to investigate group differences in brain activation to Theory of Mind tasks with unusually high sensitivity. There were no differences between neurotypical participants and those diagnosed with autism spectrum disorder. These results imply that the social cognitive impairments typical of autism spectrum disorder can occur without measurable changes in the size, location or response magnitude of activity during explicit Theory of Mind tasks administered to adults.

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

PubMed

Chen, Dezhong; Zhao, Na; Wang, Jing; Li, Zhuoyu; Wu, Changxin; Fu, Jie; Xiao, Han

2017-01-01

Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory-pigmentary syndrome characterized by non-progressive sensorineural hearing loss and iris discoloration. By whole-exome sequencing (WES), we identified a nonsense mutation (c.598C>T) in PAX3 gene, predicted to be disease causing by in silico analysis. This is the first report of genetically diagnosed case of WS PAX3 c.598C>T nonsense mutation in Chinese ethnic origin by WES and in silico functional prediction methods.

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family

PubMed Central

Chen, Dezhong; Zhao, Na; Wang, Jing; Li, Zhuoyu; Wu, Changxin; Fu, Jie; Xiao, Han

2017-01-01

Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory-pigmentary syndrome characterized by non-progressive sensorineural hearing loss and iris discoloration. By whole-exome sequencing (WES), we identified a nonsense mutation (c.598C>T) in PAX3 gene, predicted to be disease causing by in silico analysis. This is the first report of genetically diagnosed case of WS PAX3 c.598C>T nonsense mutation in Chinese ethnic origin by WES and in silico functional prediction methods. PMID:28690861

Living with bipolar disorder: the impact on patients, spouses, and their marital relationship.

PubMed

Granek, Leeat; Danan, Dor; Bersudsky, Yuly; Osher, Yamima

2016-03-01

Patients with bipolar disorder are characterized by an unusually high divorce rate. As such, the purpose of the present study was to uncover information relating specifically to the impact of bipolar disorder on patients and spouses individually, and on the marital relationship from the perspectives of both patients and spouses. Eleven patients with bipolar disorder and ten spouses were interviewed separately about the impact of bipolar disorder on their lives and on their marital relationship. Data were analyzed using the grounded theory method. The impact of bipolar disorder for spouses included self-sacrifice, caregiving burden, emotional impact, and a sense of personal evolution. The impact of bipolar disorder on patients included an emotional impact, responsibility for self-care, and struggling socially and developmentally. When comparing patient and spouse perspectives on the impact of the disorder, neither the patient nor the spouse was able to accurately assess the impact of the disorder on their partner's lives. The impact of bipolar disorder on the relationship included volatility in the relationship, strengthening the relationship, weakening the relationship, and family planning. The research indicated that patients and partners alike struggle with the tremendous impact of bipolar disorder on their lives and on their relationships. Given the high rates of divorce and volatility in these relationships, healthcare professionals can provide (or refer to) emotional and practical support both to patients and spouses on their own, and as a couple in their clinics. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Quasiparticle density of states, localization, and distributed disorder in the cuprate superconductors

NASA Astrophysics Data System (ADS)

Sulangi, Miguel Antonio; Zaanen, Jan

2018-04-01

We explore the effects of various kinds of random disorder on the quasiparticle density of states of two-dimensional d -wave superconductors using an exact real-space method, incorporating realistic details known about the cuprates. Random on-site energy and pointlike unitary impurity models are found to give rise to a vanishing DOS at the Fermi energy for narrow distributions and low concentrations, respectively, and lead to a finite, but suppressed, DOS at unrealistically large levels of disorder. Smooth disorder arising from impurities located away from the copper-oxide planes meanwhile gives rise to a finite DOS at realistic impurity concentrations. For the case of smooth disorder whose average potential is zero, a resonance is found at zero energy for the quasiparticle DOS at large impurity concentrations. We discuss the implications of these results on the computed low-temperature specific heat, the behavior of which we find is strongly affected by the amount of disorder present in the system. We also compute the localization length as a function of disorder strength for various types of disorder and find that intermediate- and high-energy states are quasiextended for low disorder, and that states near the Fermi energy are strongly localized and have a localization length that exhibits an unusual dependence on the amount of disorder. We comment on the origin of disorder in the cuprates and provide constraints on these based on known results from scanning tunneling spectroscopy and specific heat experiments.

Diagnosis lost: Differences between children who had and who currently have an autism spectrum disorder diagnosis.

PubMed

Blumberg, Stephen J; Zablotsky, Benjamin; Avila, Rosa M; Colpe, Lisa J; Pringle, Beverly A; Kogan, Michael D

2016-10-01

Autism spectrum disorder diagnoses sometimes change due to misdiagnosis, maturation, or treatment. This study uses a probability-based national survey-the Survey of Pathways to Diagnosis and Services-to compare currently diagnosed (n = 1420) and previously diagnosed (n = 187) children aged 6-17 years based on retrospective parental reports of early concerns about their children's development, responses to those concerns by doctors and other healthcare providers, the type of provider who made the first autism spectrum disorder diagnosis, and the autism spectrum disorder subtype diagnoses received (if any). Propensity score matching was used to control for differences between the groups on children's current level of functioning and other current characteristics that may have been related to diagnosis loss. Approximately 13% of the children ever diagnosed with autism spectrum disorder were estimated to have lost the diagnosis, and parents of 74% of them believed it was changed due to new information. Previously diagnosed children were less likely to have parents with early concerns about verbal skills, nonverbal communication, learning, and unusual gestures or movements. They were also less likely to have been referred to and diagnosed by a specialist. Previously diagnosed children were less likely to have ever received a diagnosis of Asperger's disorder or autistic disorder. © The Author(s) 2015.

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

PubMed Central

Brunetti, Dario; Dusi, Sabrina; Giordano, Carla; Lamperti, Costanza; Morbin, Michela; Fugnanesi, Valeria; Marchet, Silvia; Fagiolari, Gigliola; Sibon, Ody; Moggio, Maurizio; d’Amati, Giulia

2014-01-01

Pantothenate kinase-associated neurodegeneration, caused by mutations in the PANK2 gene, is an autosomal recessive disorder characterized by dystonia, dysarthria, rigidity, pigmentary retinal degeneration and brain iron accumulation. PANK2 encodes the mitochondrial enzyme pantothenate kinase type 2, responsible for the phosphorylation of pantothenate or vitamin B5 in the biosynthesis of co-enzyme A. A Pank2 knockout (Pank2−/−) mouse model did not recapitulate the human disease but showed azoospermia and mitochondrial dysfunctions. We challenged this mouse model with a low glucose and high lipid content diet (ketogenic diet) to stimulate lipid use by mitochondrial beta-oxidation. In the presence of a shortage of co-enzyme A, this diet could evoke a general impairment of bioenergetic metabolism. Only Pank2−/− mice fed with a ketogenic diet developed a pantothenate kinase-associated neurodegeneration-like syndrome characterized by severe motor dysfunction, neurodegeneration and severely altered mitochondria in the central and peripheral nervous systems. These mice also showed structural alteration of muscle morphology, which was comparable with that observed in a patient with pantothenate kinase-associated neurodegeneration. We here demonstrate that pantethine administration can prevent the onset of the neuromuscular phenotype in mice suggesting the possibility of experimental treatment in patients with pantothenate kinase-associated neurodegeneration. PMID:24316510

Issues in quantifying atrophic macular disease using retinal autofluorescence.

PubMed

Sunness, Janet S; Ziegler, Matthias D; Applegate, Carol A

2006-01-01

To demonstrate the potential and limits of autofluorescence imaging in identifying and delineating areas of atrophy. Fundus photographs and infrared scanning laser ophthalmoscope (SLO) imaging, SLO macular perimetry, and SLO autofluorescence imaging results were compared for two patients with geographic atrophy (GA) from age-related macular degeneration, one patient with pigmentary alteration of the retina, and two patients with Stargardt disease. The main outcome measure in this case series was the presence of reduced autofluorescence. Drusen may become undetectable during autofluorescence imaging for some patients, allowing simple identification of areas of GA with areas of reduced autofluorescence. In other patients, drusen themselves have decreased autofluorescence, despite having intact retinal function in the retina overlying them. Some patients may have areas of reduced autofluorescence that persist for many years, without evidence of the development of atrophy. In Stargardt disease, decreased autofluorescence can easily detect and delineate areas of scotoma. Areas with mottled autofluorescence may have overlying function, but the function may not be adequate to support a fixation locus in that area. Using decreased autofluorescence to delineate areas of atrophy may be helpful in atrophic macular disorders. For GA, correlation with fundus photographs or macular perimetry findings may be necessary to differentiate between drusen and atrophy. For Stargardt disease, the nature of areas of decreased autofluorescence may help explain visual function of those areas.

Stephen L. Gans Distinguished Overseas Lecture. The neural crest in pediatric surgery.

PubMed

Tovar, Juan A

2007-06-01

This review highlights the relevance of the neural crest (NC) as a developmental control mechanism involved in several pediatric surgical conditions and the investigative interest of following some of its known signaling pathways. The participation of the NC in facial clefts, ear defects, branchial fistulae and cysts, heart outflow tract and aortic arch anomalies, pigmentary disorders, abnormal enteric innervation, neural tumors, hemangiomas, and vascular anomalies is briefly reviewed. Then, the literature on clinical and experimental esophageal atresia-tracheoesophageal fistula (EA-TEF) and congenital diaphragmatic hernia (CDH) is reviewed for the presence of associated NC defects. Finally, some of the molecular signaling pathways involved in both conditions (sonic hedgehog, Hox genes, and retinoids) are summarized. The association of facial, cardiovascular, thymic, parathyroid, and C-cell defects together with anomalies of extrinsic and intrinsic esophageal innervation in babies and/or animals with both EA-TEF and CDH strongly supports the hypothesis that NC is involved in the pathogenesis of these malformative clusters. On the other hand, both EA-TEF and CDH are observed in mice mutant for genes involved in the previously mentioned signaling pathways. The investigation of NC-related molecular pathogenic pathways involved in malformative associations like EA-TEF and CDH that are induced by chromosomal anomalies, chemical teratogens, and engineered mutations is a promising way of clarifying why and how some pediatric surgical conditions occur. Pediatric surgeons should be actively involved in these investigations.

A low-fluence 1064-nm Q-switched neodymium-doped yttrium aluminium garnet laser for the treatment of café-au-lait macules.

PubMed

Kim, Hyeong-Rae; Ha, Jeong-Min; Park, Min-Soo; Lee, Young; Seo, Young-Joon; Kim, Chang-Deok; Lee, Jeung-Hoon; Im, Myung

2015-09-01

Café-au-lait macules (CALMs) are a common pigmentary disorder. Although a variety of laser modalities have been used to treat CALMs, their efficacies vary and dyspigmentation may develop. We evaluated the clinical efficacy and safety of a low-fluence 1064-nm Q-switched neodymium-doped yttrium aluminium garnet (Nd:YAG) laser for the treatment of CALMs. In a preliminary investigation, 6 patients underwent a split-lesion comparative study with 532- and 1064-nm Q-switched Nd:YAG laser treatment. In total, 32 patients with 39 CALMs were enrolled in a subsequent prospective trial to evaluate the treatment with a low-fluence 1064-nm Q-switched Nd:YAG laser. In the preliminary study, the 1064-nm treatment group had a more favorable response and a shorter recovery time. In a subsequent prospective trial of a 1064-nm laser, 74.4% of the lesions showed a clinical response with clearance of ≥50.0%. The treatment regimen was well tolerated; 15.4% of patients experienced adverse events. The study participants were followed for 6 months, and there were no relevant treatment controls in the prospective trial group. Low-fluence 1064-nm Q-switched Nd:YAG laser therapy afforded good clinical improvement for treating CALMs. Copyright © 2015 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

Chemical Peeling with a Modified Phenol Formula for the Treatment of Facial Freckles on Asian Skin.

PubMed

Sun, Hua-Feng; Lu, Hai-Shan; Sun, Le-Qi; Ping, Wei-Dong; Mao, Dong-Sheng; Li, Dan

2018-04-01

Chemical peeling is an efficient method for the treatment of pigment disorders. For freckles, medium-depth to deep peeling using a phenol solution is one of the most effective chemical peels, and modifications of facial skin can be observed up to 20 years after peeling. However, applying phenol to the skin may cause serious side effects. Phenol peeling has been rarely used in Asia due to its tendency to cause permanent pigmentary changes and hypertrophic scars. In total, 896 Chinese inpatients with facial freckles were enrolled in this study. The phenol formula was modified with crystalline phenol, dyclonine, camphor, anhydrous alcohol and glycerin and adjusted to a concentration of 73.6-90.0%. The entire peeling treatment was divided into two procedures performed separately on 2 days. All patients exhibited 26% or greater improvement, and 99.66% of patients exhibited 51% or greater improvement (good and excellent). Scarring and systemic complications were not observed in any patient. The modified phenol formula is very effective and safe for the treatment of facial freckles in Asian patients. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Antimelanogenic Efficacy of Melasolv (3,4,5-Trimethoxycinnamate Thymol Ester) in Melanocytes and Three-Dimensional Human Skin Equivalent.

PubMed

Lee, John Hwan; Lee, Eun-Soo; Bae, Il-Hong; Hwang, Jeong-Ah; Kim, Se-Hwa; Kim, Dae-Yong; Park, Nok-Hyun; Rho, Ho Sik; Kim, Yong Jin; Oh, Seong-Geun; Lee, Chang Seok

2017-01-01

Excessive melanogenesis often causes unaesthetic hyperpigmentation. In a previous report, our group introduced a newly synthesized depigmentary agent, Melasolv™ (3,4,5-trimethoxycinnamate thymol ester). In this study, we demonstrated the significant whitening efficacy of Melasolv using various melanocytes and human skin equivalents as in vitro experimental systems. The depigmentary effect of Melasolv was tested in melan-a cells (immortalized normal murine melanocytes), α-melanocyte-stimulating hormone (α-MSH)-stimulated B16 murine melanoma cells, primary normal human melanocytes (NHMs), and human skin equivalent (MelanoDerm). The whitening efficacy of Melasolv was further demonstrated by photography, time-lapse microscopy, Fontana-Masson (F&M) staining, and 2-photon microscopy. Melasolv significantly inhibited melanogenesis in the melan-a and α-MSH-stimulated B16 cells. In human systems, Melasolv also clearly showed a whitening effect in NHMs and human skin equivalent, reflecting a decrease in melanin content. F&M staining and 2-photon microscopy revealed that Melasolv suppressed melanin transfer into multiple epidermal layers from melanocytes as well as melanin synthesis in human skin equivalent. Our study showed that Melasolv clearly exerts a whitening effect on various melanocytes and human skin equivalent. These results suggest the possibility that Melasolv can be used as a depigmentary agent to treat pigmentary disorders as well as an active ingredient in cosmetics to increase whitening efficacy. © 2017 S. Karger AG, Basel.

Classical autophagy proteins LC3B and ATG4B facilitate melanosome movement on cytoskeletal tracks.

PubMed

Ramkumar, Amrita; Murthy, Divya; Raja, Desingu Ayyappa; Singh, Archana; Krishnan, Anusha; Khanna, Sangeeta; Vats, Archana; Thukral, Lipi; Sharma, Pushkar; Sivasubbu, Sridhar; Rani, Rajni; Natarajan, Vivek T; Gokhale, Rajesh S

2017-08-03

Macroautophagy/autophagy is a dynamic and inducible catabolic process that responds to a variety of hormonal and environmental cues. Recent studies highlight the interplay of this central pathway in a variety of pathophysiological diseases. Although defective autophagy is implicated in melanocyte proliferation and pigmentary disorders, the mechanistic relationship between the 2 pathways has not been elucidated. In this study, we show that autophagic proteins LC3B and ATG4B mediate melanosome trafficking on cytoskeletal tracks. While studying melanogenesis, we observed spatial segregation of LC3B-labeled melanosomes with preferential absence at the dendritic ends of melanocytes. This LC3B labeling of melanosomes did not impact the steady-state levels of these organelles but instead facilitated their intracellular positioning. Melanosomes primarily traverse on microtubule and actin cytoskeletal tracks and our studies reveal that LC3B enables the assembly of microtubule translocon complex. At the microtubule-actin crossover junction, ATG4B detaches LC3B from melanosomal membranes by enzymatic delipidation. Further, by live-imaging we show that melanosomes transferred to keratinocytes lack melanocyte-specific LC3B. Our study thus elucidates a new role for autophagy proteins in directing melanosome movement and reveal the unconventional use of these proteins in cellular trafficking pathways. Such crosstalk between the central cellular function and housekeeping pathway may be a crucial mechanism to balance melanocyte bioenergetics and homeostasis.

Trends in Regenerative Medicine: Repigmentation in Vitiligo Through Melanocyte Stem Cell Mobilization.

PubMed

Birlea, Stanca A; Costin, Gertrude-E; Roop, Dennis R; Norris, David A

2017-07-01

Vitiligo is the most frequent human pigmentary disorder, characterized by progressive autoimmune destruction of mature epidermal melanocytes. Of the current treatments offering partial and temporary relief, ultraviolet (UV) light is the most effective, coordinating an intricate network of keratinocyte and melanocyte factors that control numerous cellular and molecular signaling pathways. This UV-activated process is a classic example of regenerative medicine, inducing functional melanocyte stem cell populations in the hair follicle to divide, migrate, and differentiate into mature melanocytes that regenerate the epidermis through a complex process involving melanocytes and other cell lineages in the skin. Using an in-depth correlative analysis of multiple experimental and clinical data sets, we generated a modern molecular research platform that can be used as a working model for further research of vitiligo repigmentation. Our analysis emphasizes the active participation of defined molecular pathways that regulate the balance between stemness and differentiation states of melanocytes and keratinocytes: p53 and its downstream effectors controlling melanogenesis; Wnt/β-catenin with proliferative, migratory, and differentiation roles in different pigmentation systems; integrins, cadherins, tetraspanins, and metalloproteinases, with promigratory effects on melanocytes; TGF-β and its effector PAX3, which control differentiation. Our long-term goal is to design pharmacological compounds that can specifically activate melanocyte precursors in the hair follicle in order to obtain faster, better, and durable repigmentation. © 2016 Wiley Periodicals, Inc.

Combination of fractional QSRL and IPL for melasma treatment in Chinese population.

PubMed

Tong, La-Ga; Wu, Yan; Wang, Bin; Xu, Xue-Gang; Tu, Han-Deng; Chen, Hong-Duo; Li, Yuan-Hong

2017-02-01

Melasma is the most common and distressing pigmentary disorder presenting to dermatology clinics. Various treatment protocols for melasma have been suggested in the previous literature and applied in various clinical settings. However, no satisfactory therapy has been widely accepted. To evaluate the efficiency and safety of a combination treatment with fractional Q-switched ruby laser (QSRL) and intense pulsed light (IPL) for melasma in Chinese population. Fifty-three Chinese melasma patients were enrolled in this study. Each patient underwent 2 courses of treatments at 2-week interval. One course was composed of 3 successive sessions of 694-nm fractional QSRL at intervals of two weeks followed by one IPL. The efficacy was evaluated by non-invasive measurements and subjective assessments. The adverse effects were recorded. Mean melanin index (MI) and erythema index (EI) significantly decreased from 216.1 and 381.8 pre-treatment to 167.8 and 310.3 post-treatment, respectively. Mean melasma area and severity index (MASI) decreased dramatically from 14.66 before treatment to 5.70 after the final treatment. These values remained at low levels at 3-month follow-up. The percentage of patients who achieved moderate or significant improvements was 73.6%. Adverse effects of QSRL and IPL were minimal. The combination treatment of fractional QSRL and IPL would be a promising modality for managing melasma in Chinese patients.

Trends in Regenerative Medicine: Repigmentation in Vitiligo Through Melanocyte Stem Cell Mobilization

PubMed Central

Birlea, Stanca A.; Costin, Gertrude-E.; Roop, Dennis R.; Norris, David A.

2017-01-01

Vitiligo is the most frequent human pigmentary disorder, characterized by progressive autoimmune destruction of mature epidermal melanocytes. Of the current treatments offering partial and temporary relief, ultraviolet (UV) light is the most effective, coordinating an intricate network of keratinocyte and melanocyte factors that control numerous cellular and molecular signaling pathways. This UV-activated process is a classic example of regenerative medicine, inducing functional melanocyte stem cell populations in the hair follicle to divide, migrate, and differentiate into mature melanocytes that regenerate the epidermis through a complex process involving melanocytes and other cell lineages in the skin. Using an in-depth correlative analysis of multiple experimental and clinical data sets, we generated a modern molecular research platform that can be used as a working model for further research of vitiligo repigmentation. Our analysis emphasizes the active participation of defined molecular pathways that regulate the balance between stemness and differentiation states of melanocytes and keratinocytes: p53 and its downstream effectors controlling melanogenesis; Wnt/β-catenin with proliferative, migratory, and differentiation roles in different pigmentation systems; integrins, cadherins, tetraspanins, and metalloproteinases, with promigratory effects on melanocytes; TGF-β and its effector PAX3, which control differentiation. Our long-term goal is to design pharmacological compounds that can specifically activate melanocyte precursors in the hair follicle in order to obtain faster, better, and durable repigmentation. PMID:28029168

Spectrum of skin diseases presented at LAUTECH Teaching Hospital, Osogbo, southwest Nigeria.

PubMed

Akinboro, Adeolu O; Mejiuni, Ayodele D; Akinlade, Mathias O; Audu, Bosede M; Ayodele, Olugbenga E

2015-04-01

Patterns of skin disease in developing nations are changing as frequencies of non-communicable diseases continue to increase. Appraisal of the current status of the disease profile is of utmost importance for health planning and resource allocation. A prospective analysis of 895 cases of outpatient consultation during the years 2005-2010 was conducted. The mean ± standard deviation age of patients was 31.1 ± 19.1 years. Non-infectious skin diseases accounted for 80.9% of all cases. Eczemas/dermatitis (27.0%), urticarias/erythemas (11.0%), fungal infections (9.5%), skin appendage disorders (8.9%), papulosquamous diseases (8.2%), pigmentary diseases (8.2%), viral infections (6.8%), and tumors and malignant skin lesions (5.4%) represented the most common presentations. Atopic dermatitis was the most common type of eczema (29.8%) among children (odds ratio [OR] 1.53, 95% confidence interval [CI] 1.09-2.13; P = 0.013), in whom cornification disorders (OR 3.90, 95% CI 1.73-8.92; P < 0.001) and viral infections (OR 1.80, 95% CI 1.09-3.25; P = 0.021) were also frequent. Adults were more likely to be diagnosed with drug eruptions (OR 3.58, 95% CI 1.09-11.80; P = 0.003), tumors/malignancy (OR 4.97, 95% CI 1.53-16.10; P = 0.030), or autoimmune connective tissue disorders (OR 8.13, 95% CI 1.09-60.20; P = 0.015). Female subjects were significantly affected by urticarias (OR 1.53, 95% CI 1.00-2.33; P = 0.030) and papulosquamous diseases (OR 1.80, 95% CI 1.09-3.03; P = 0.019). The present pattern shows that non-infectious skin diseases are predominant. Occurrences of eczemas and urticarias are increasing at similar rates, whereas infectious skin diseases are decreasing in frequency. Resources and research should be directed towards the prevention of non-infectious skin diseases at this time as the campaign for a cleaner environment continues. © 2014 The International Society of Dermatology.

Lessons learned from the study of masturbation and its comorbidity with psychiatric disorders in children: The first analytic study.

PubMed

Tashakori, Ashraf; Safavi, Atefeh; Neamatpour, Sorour

2017-04-01

The main source of information about children's masturbation is more on the basis of case reports. Due to the lack of consistent and accurate information. This study aimed to determine prevalence and underlying factors of masturbation and its comorbidity with psychiatric disorders in children. In this descriptive-analytical study, among the children referred to the Pediatrics Clinic of Psychiatric Ward, Golestan Hospital, Ahvaz, Southwest Iran, 98 children were selected by convenience sampling in 2014. Disorders were diagnosed by clinical interview based on the fourth edition of the Diagnostic and Statistical Manual for Psychiatric Disorders (DSM-IV) and the Child Symptom Inventory-4 (CSI-4). We also used a questionnaire, containing demographic information about the patient and their family and also other data. Data was analyzed using descriptive statistics and chi-square test with SPSS software version 16. Of the children who participated in this study (most of whom were boys), 31.6% suffered from masturbation. The phobias (p=0.002), separation anxiety disorder (p=0.044), generalized anxiety disorder (p=0.037), motor tics (p=0.033), stress disorder (p=0.005), oppositional defiant disorder (p=0.044), thumb sucking (p=0.000) and conduct disorder (p=0.001) were associated with masturbation. Masturbation was common in children referred to psychiatric clinic, and may be more associated with oppositional defiant disorder, or conduct disorder, some anxiety disorders, motor tics and other stereotypical behavior. Authors recommended more probing for psychiatric disorders in children with unusual sexual behavior.

Lessons learned from the study of masturbation and its comorbidity with psychiatric disorders in children: The first analytic study

PubMed Central

Tashakori, Ashraf; Safavi, Atefeh; Neamatpour, Sorour

2017-01-01

Background The main source of information about children’s masturbation is more on the basis of case reports. Due to the lack of consistent and accurate information. Objective This study aimed to determine prevalence and underlying factors of masturbation and its comorbidity with psychiatric disorders in children. Methods In this descriptive-analytical study, among the children referred to the Pediatrics Clinic of Psychiatric Ward, Golestan Hospital, Ahvaz, Southwest Iran, 98 children were selected by convenience sampling in 2014. Disorders were diagnosed by clinical interview based on the fourth edition of the Diagnostic and Statistical Manual for Psychiatric Disorders (DSM-IV) and the Child Symptom Inventory-4 (CSI-4). We also used a questionnaire, containing demographic information about the patient and their family and also other data. Data was analyzed using descriptive statistics and chi-square test with SPSS software version 16. Results Of the children who participated in this study (most of whom were boys), 31.6% suffered from masturbation. The phobias (p=0.002), separation anxiety disorder (p=0.044), generalized anxiety disorder (p=0.037), motor tics (p=0.033), stress disorder (p=0.005), oppositional defiant disorder (p=0.044), thumb sucking (p=0.000) and conduct disorder (p=0.001) were associated with masturbation. Conclusion Masturbation was common in children referred to psychiatric clinic, and may be more associated with oppositional defiant disorder, or conduct disorder, some anxiety disorders, motor tics and other stereotypical behavior. Authors recommended more probing for psychiatric disorders in children with unusual sexual behavior. PMID:28607641

Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder.

PubMed

Zollino, Marcella; Orteschi, Daniela; Ruiter, Mariken; Pfundt, Rolph; Steindl, Katharina; Cafiero, Concetta; Ricciardi, Stefania; Contaldo, Ilaria; Chieffo, Daniela; Ranalli, Domiziana; Acquafondata, Celeste; Murdolo, Marina; Marangi, Giuseppe; Asaro, Alessia; Battaglia, Domenica

2014-06-01

Seizure disorder is one of the most relevant clinical manifestations in Wolf-Hirschhorn syndrome (WHS) and it acts as independent prognostic factor for the severity of intellectual disability (ID). LETM1, encoding a mitochondrial protein playing a role in K(+) /H(+) exchange and in Ca(2+) homeostasis, is currently considered the major candidate gene. However, whether haploinsufficiency limited to LETM1 is enough to cause epilepsy is still unclear. The main purpose of the present research is to define the 4p chromosome regions where genes for seizures reside. Comparison of our three unusual 4p16.3 deletions with 13 literature reports. Array-comparative genomic hybridization (a-CGH). Real-time polymerase chain reaction (RT-PCR) on messanger RNA (mRNA) of LETM1 and CPLX1. Direct sequencing of LETM1. Three unusual 4p16.3 deletions were detected by array-CGH in absence of a obvious clinical diagnosis of WHS. Two of these, encompassing LETM1, were found in subjects who never had seizures. The deletions were interstitial, spanning 1.1 Mb with preservation of the terminal 1.77 Mb region in one case and 0.84 Mb with preservation of the terminal 1.07 Mb region in the other. The other deletion was terminal, affecting a 0.564 Mb segment, with preservation of LETM1, and it was associated with seizures and learning difficulties. Upon evaluating our patients along with literature reports, we noted that six of eight subjects with terminal 4p deletions preserving LETM1 had seizures, whereas seven of seven with interstitial deletions including LETM1 and preserving the terminal 1 Mb region on 4p did not. An additional chromosome region for seizures is suggested, falling within the terminal 1.5 Mb on 4p, not including LETM1. We consider that haploinsufficiency not limited to LETM1 but including other genes acts as a risk factor for the WHS-associated seizure disorder, according to a comorbidity model of pathogenesis. Additional candidate genes reside in the terminal 1.5 Mb region on 4p, most likely distal to LETM1. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here. Wiley Periodicals, Inc. © 2014 International League Against Epilepsy.

Mice That Lack Thrombospondin 2 Display Connective Tissue Abnormalities That Are Associated with Disordered Collagen Fibrillogenesis, an Increased Vascular Density, and a Bleeding Diathesis

PubMed Central

Kyriakides, Themis R.; Zhu, Yu-Hong; Smith, Lynne T.; Bain, Steven D.; Yang, Zhantao; Lin, Ming T.; Danielson, Keith G.; Iozzo, Renato V.; LaMarca, Mary; McKinney, Cindy E.; Ginns, Edward I.; Bornstein, Paul

1998-01-01

Thrombospondin (TSP) 2, and its close relative TSP1, are extracellular proteins whose functions are complex, poorly understood, and controversial. In an attempt to determine the function of TSP2, we disrupted the Thbs2 gene by homologous recombination in embryonic stem cells, and generated TSP2-null mice by blastocyst injection and appropriate breeding of mutant animals. Thbs2−/− mice were produced with the expected Mendelian frequency, appeared overtly normal, and were fertile. However, on closer examination, these mice displayed a wide variety of abnormalities. Collagen fiber patterns in skin were disordered, and abnormally large fibrils with irregular contours were observed by electron microscopy in both skin and tendon. As a functional correlate of these findings, the skin was fragile and had reduced tensile strength, and the tail was unusually flexible. Mutant skin fibroblasts were defective in attachment to a substratum. An increase in total density and in cortical thickness of long bones was documented by histology and quantitative computer tomography. Mutant mice also manifested an abnormal bleeding time, and histologic surveys of mouse tissues, stained with an antibody to von Willebrand factor, showed a significant increase in blood vessels. The basis for the unusual phenotype of the TSP2-null mouse could derive from the structural role that TSP2 might play in collagen fibrillogenesis in skin and tendon. However, it seems likely that some of the diverse manifestations of this genetic disorder result from the ability of TSP2 to modulate the cell surface properties of mesenchymal cells, and thus, to affect cell functions such as adhesion and migration. PMID:9442117

Diagnostic consistency and interchangeability of schizophrenic disorders and bipolar disorders: A 7-year follow-up study.

PubMed

Hung, Yen-Ni; Yang, Shu-Yu; Kuo, Chian-Jue; Lin, Shih-Ku

2018-03-01

The change in psychiatric diagnoses in clinical practice is not an unusual phenomenon. The interchange between the diagnoses of schizophrenic disorders and bipolar disorders is a major clinical issue because of the differences in treatment regimens and long-term prognoses. In this study, we used a nationwide population-based sample to compare the diagnostic consistency and interchange rate between schizophrenic disorders and bipolar disorders. In total, 25 711 and 11 261 patients newly diagnosed as having schizophrenic disorder and bipolar disorder, respectively, were retrospectively enrolled from the Psychiatric Inpatient Medical Claims database between 2001 and 2005. We followed these two cohorts for 7 years to determine whether their diagnoses were consistent throughout subsequent hospitalizations. The interchange between the two diagnoses was analyzed. In the schizophrenic disorder cohort, the overall diagnostic consistency rate was 87.3% and the rate of change to bipolar disorder was 3.0% during the 7-year follow-up. Additional analyses of subtypes revealed that the change rate from schizoaffective disorder to bipolar disorder was 12.0%. In the bipolar disorder cohort, the overall diagnostic consistency rate was 71.9% and the rate of change to schizophrenic disorder was 8.3%. Changes in the diagnosis of a major psychosis are not uncommon. The interchange between the diagnoses of schizophrenic disorders and bipolar disorders might be attributed to the evolution of clinical symptoms and the observation of preserved social functions that contradict the original diagnosis. While making a psychotic diagnosis, clinicians should be aware of the possibility of the change in diagnosis in the future. © 2017 The Authors. Psychiatry and Clinical Neurosciences © 2017 Japanese Society of Psychiatry and Neurology.

Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.

PubMed

Garavelli, Livia; Simonte, Graziella; Rosato, Simonetta; Wischmeijer, Anita; Albertini, Enrico; Guareschi, Elisa; Longo, Caterina; Albertini, Giuseppe; Gelmini, Chiara; Greco, Chiara; Errico, Stefania; Savino, Gustavo; Pavanello, Marco; Happle, Rudolf; Unger, Sheila; Superti-Furga, Andrea; Grzeschik, Karl-Heinz

2013-07-01

Focal dermal hypoplasia (FDH; Goltz-Gorlin syndrome; OMIM 305600) is a disorder that features involvement of the skin, skeletal system, and eyes. It is caused by loss-of-function mutations in the PORCN gene. We report a young girl with FDH, microphthalmos associated with colobomatous orbital cyst, dural ectasia and cystic malformation of the spinal cord, and a de novo variant in PORCN. This association has not been previously reported, and based on these observations the phenotypic spectrum of FDH might be broader than previously appreciated. It would be prudent to alter the suggested surveillance for this rare disorder. Copyright © 2013 Wiley Periodicals, Inc.

Postural Orthostatic Tachycardia Syndrome and Its Unusual Presenting Complaints in Women: A Literature Minireview

PubMed Central

Sohail, Wafa; Hatipoglu, Betul; Wilson, Robert

2018-01-01

Postural orthostatic tachycardia syndrome (POTS) is a heterogeneous disorder of the autonomic nervous system that is defined by symptoms of orthostatic intolerance. According to the current criteria for adults, currently, POTS is defined as a heart rate increment of 30 beats/minute or more after 10 minutes of standing in the absence of orthostatic hypotension. There is a vast majority that remains misdiagnosed due to the heterogeneity of the disorder. Due to a lack of Food and Drug Administration (FDA) approved therapy, alternative therapies and over the counter medications are used to alleviate the symptoms. This is an uncommon presentation observed primarily in women, as it is more prevalent in females. PMID:29876157

Coats' disease and congenital retinoschisis in a single eye: a case report and DNA analysis.

PubMed

Berinstein, D M; Hiraoka, M; Trese, M T; Shastry, B S

2001-01-01

The clinical features of Coats' disease and congenital retinoschisis (RS) are distinctly different. Therefore, finding changes consistent with Coats' disease and congenital RS in a single eye is an unusual occurrence. The following report describes two cases with a Coats' telangiectatic lesion in one region of the retina separated by normal retina and the presence of central and peripheral congenital RS. Molecular genetic analysis of the Norrie disease and RS genes failed to identify disease-causing or polymorphic mutations in either of the genes, suggesting that the above condition is clinically and genetically a different disorder. Further studies are needed to identify the genes responsible for the above disorder and associated ocular manifestations. Copyright 2001 S. Karger AG, Basel.

Functionalized carbon nanotubes for potential medicinal applications.

PubMed

Zhang, Yi; Bai, Yuhong; Yan, Bing

2010-06-01

Functionalized carbon nanotubes display unique properties that enable a variety of medicinal applications, including the diagnosis and treatment of cancer, infectious diseases and central nervous system disorders, and applications in tissue engineering. These potential applications are particularly encouraged by their ability to penetrate biological membranes and relatively low toxicity. High aspect ratio, unique optical property and the likeness as small molecule make carbon nanotubes an unusual allotrope of element carbon. After functionalization, carbon nanotubes display potentials for a variety of medicinal applications, including the diagnosis and treatment of cancer, infectious diseases and central nervous system disorders, and applications in tissue engineering. These potential applications are particularly encouraged by their ability to penetrate biological membranes and relatively low toxicity. (c) 2010 Elsevier Ltd. All rights reserved.

An Unusual Case: The Comorbidity of Mood Disorder and 17-α-Hydroxylase Deficiency

PubMed Central

TUNÇ, Serhat; YİĞİTER, Sera; ALTINBAŞ, Kürşat; KURT, Erhan; ORAL, Timuçin

2013-01-01

17-α-hydroxylase enzyme has a crucial role in the steroid biosynthesis and, deficiency of this enzyme is an autosomal recessive monogenic disorder which is one of the two hypertensive form of congenital adrenal hyperplasia. It is characterized with the deficiency in glucocorticoid, adrenal androgen, and sex steroid synthesis with concomitant mineralocorticoid excess due to genetic defect in steroid biosynthesis. The relationship of hormone system physiology with psychiatric signs and syndromes are complex. Any problem in the hypothalamo-pituitary axis may cause psychiatric syndromes. On the other hand, many psychiatric disorders, such as mood-anxiety symptoms, depression, mania, psychosis, and delirium can be seen secondary to the treatment of hormone deficiency. We present the case of a male patient with pseudohermaphroditism who has been followed and treated in Raşit Tahsin Mood Clinic with the diagnosis of mood disorder not otherwise specified and was diagnosed with 46, XY karyotype and 17-α-hydroxylase deficiency after referring to a hospital with delayed puberty. Considering the medical literature, 17-α-hydroxylase deficiency has been evaluated from the aspects of gender-related behavioral disorders, psychological developmental and anxiety disorders. To the best of our knowledge, in the medical literature, this is the first case of 17-α-hydroxylase deficiency associated with mood disorder. Here, the relationship between mood disorders and hypothalamo-pituitary axis is discussed in the light of the literature PMID:28360556

Emergent large mechanical damping in ferroelastic-martensitic systems driven by disorder

NASA Astrophysics Data System (ADS)

Ni, Yan; Zhang, Zhen; Fang, Minxia; Hao, Yanshuang; Ding, Xiangdong; Otsuka, Kazuhiro; Ren, Xiaobing

2018-05-01

Disorders and point defects strongly interplay with the phase transition and alter the properties of ferroelastic-martensitic systems. Unusual static and quasistatic behaviors, such as time-dependent phase transitions, are discovered when disorders are introduced. However, the role of disorders on the ferroelastic system in vibrational environments at moderate frequency is rarely known, investigation of which could further shed light on their application as mechanical damping materials. Here we present the emergence of large damping capacity in ferroelastic-martensitic systems [including both the T i50 -xN i50 +x alloy and (C a1 -xS rx) Ti O3 ceramics] by introducing disorder (i.e., substitutional Ni and Sr, respectively). As the level disorder increases, the damping capacity of both systems raises and eventually reaches a maximum when long-range-ordered martensite tends to vanish. Moreover, near the disorder-induced phase boundary, we observe a large mechanical damping in ferroelastic ceramics (C a1 -xS rx) Ti O3 with a figure of merit ˜2 GP a1 /2 . Microscopic and dynamic investigations indicate that such damping plateau could result from the competing evolution of density and mobility of domain boundaries when disorder is introduced. Our work provides a degree of freedom to develop ferroelastic damping materials and a potential way to tune domain-boundary-mediated functionalities for other ferroic materials.

Assessing disordered thoughts in preschoolers with dysregulated mood.

PubMed

Hutchison, Amanda K; Beresford, Carol; Robinson, Joann; Ross, Randal G

2010-10-01

There is rising interest in identifying precursors to bipolar disorder symptoms, including thought disorder. Thought disorder is identified in adults through self-report and in school-aged children through parent report and child story-telling. This study is an exploration to determine if preschoolers with mood dysregulation have evidence of disordered thoughts using a story-stem completion method. Participants included two groups of 3.5-6 year-old children: 20 with mood dysregulation including manic symptoms and 11 typically developing comparison children. Children were administered story completion narratives including one story where the child character accidentally cuts him/herself while pretending to cook. The children were asked to complete the stories and their responses were analyzed for atypical themes consistent with disordered thoughts such as violence or bizarreness outside of the story or props coming to life. Thirty-five percentage of symptomatic preschoolers versus 0% of typically developing preschoolers ascribed independent actions to inanimate props (p = 0.03). Eighty percentage of symptomatic preschoolers versus 9% of typically developing preschoolers utilized props in a violent or bizarre manner outside the central story (p < 0.001). Preschool children with symptoms of dysregulated mood express themes related to the unusual use of story props which may indicate disordered thoughts. This preschool expression of dysregulated mood appears similar to and possibly continuous with school-age and adult versions of bipolar disorder.

Contrast-enhanced ultrasound and computed tomography findings of granulomatosis with polyangiitis presenting with multiple intrarenal microaneurysms: A case report.

PubMed

Kim, Youe Ree; Lee, Young Hwan; Lee, Jong-Ho; Yoon, Kwon-Ha

Granulomatosis with polyangiitis (GPA) is a systemic disorder that affects small- and medium- sized vessels in many organs. Although the kidneys are the second most commonly involved organ in patients with GPA, its manifestation as multiple intrarenal aneurysms is rare. We report an unusual manifestation of GPA with multiple intrarenal microaneurysms, as demonstrated by contrast-enhanced ultrasound and computed tomography. Copyright © 2017 Elsevier Inc. All rights reserved.

Fever of unknown origin (FUO) due to Legionnaire's disease.

PubMed

Muñoz-Gómez, Sigridh; Cunha, Burke A

2015-01-01

Fevers of unknown origin (FUOs) may be due to any of over 200 different disorders. We present a most unusual case of an FUO in a returning traveler from the Dominican Republic. Work-up for Q fever, Brucellosis, Bartonella, malaria and HIV were negative, but very highly elevated ESRs and ferritin levels suggested possible Legionnaire's disease. This is the third reported case of Legionnaire's disease presenting as an FUO. Copyright © 2015 Elsevier Inc. All rights reserved.

ST-Segment Elevation Myocardial Infarction with Acute Stent Thrombosis Presenting as Intractable Hiccups: An Unusual Case

PubMed Central

Zhang, Fan; Tongo, Nosakhare Douglas; Hastings, Victoria; Kanzali, Parisa; Zhu, Ziqiang; Chadow, Hal; Rafii, Shahrokh E.

2017-01-01

Patient: Male, 51 Final Diagnosis: ST-segment elevation myocardial infarction with acute stent thrombosis Symptoms: Chest pain • hiccups Medication: — Clinical Procedure: — Specialty: Cardiology Objective: Unusual clinical course Background: Acute coronary syndrome (ACS) can present with atypical chest pain or symptoms not attributed to heart disease, such as indigestion. Hiccups, a benign and self-limited condition, can become persistent or intractable with overlooked underlying etiology. There are various causes of protracted hiccups, including metabolic abnormalities, psychogenic disorders, malignancy, central nervous system pathology, medications, pulmonary disorders, or gastrointestinal etiologies. It is rarely attributed to cardiac disease. Case Report: We report a case of intractable hiccups in a 51-year-old male with cocaine related myocardial infarction (MI) before and after stent placement. Coronary angiogram showed in-stent thrombosis of the initial intervention. Following thrombectomy, balloon angioplasty, and stent, the patient recovered well without additional episodes of hiccups. Although hiccups are not known to present with a predilection for a particular cause of myocardial ischemia, this case may additionally be explained by the sympathomimetic effects of cocaine, which lead to vasoconstriction of coronary arteries. Conclusions: Hiccups associated with cardiac enzyme elevation and EKG ST-segment elevation before and after percutaneous coronary intervention (PCI) maybe a manifestation of acute MI with or without stent. The fact that this patient was a cocaine user may have contributed to the unique presentation. PMID:28455489

Identifying novel genetic determinants of hemostatic balance.

PubMed

Ginsburg, D

2005-08-01

Incomplete penetrance and variable expressivity confound the diagnosis and therapy of most inherited thrombotic and hemorrhagic disorders. For many of these diseases, some or most of this variability is determined by genetic modifiers distinct from the primary disease gene itself. Clues toward identifying such modifier genes may come from studying rare Mendelian disorders of hemostasis. Examples include identification of the cause of combined factor V and VIII deficiency as mutations in the ER Golgi intermediate compartment proteins LMAN1 and MCFD2. These proteins form a cargo receptor that facilitates the transport of factors V and VIII, and presumably other proteins, from the ER to the Golgi. A similar positional cloning approach identified ADAMTS-13 as the gene responsible for familial TTP. Along with the work of many other groups, these findings identified VWF proteolysis by ADAMTS-13 as a key regulatory pathway for hemostasis. Recent advances in mouse genetics also provide powerful tools for the identification of novel genes contributing to hemostatic balance. Genetic studies of inbred mouse lines with unusually high and unusually low plasma VWF levels identified polymorphic variation in the expression of a glycosyltransferase gene, Galgt2, as an important determinant of plasma VWF levels in the mouse. Ongoing studies in mice genetically engineered to carry the factor V Leiden mutation may similarly identify novel genes contributing to thrombosis risk in humans.

Spinal cheiro-oral syndrome: a common neurological entity in an unusual site.

PubMed

Lin, Hung-Sheng; Yin, Hsin-Ling; Chui, Chi; Lui, Chun-Chung; Chen, Wei-Hsi

2011-01-01

Cheiro-oral syndrome (COS) is an established neurological entity characterized by a sensory impairment confined to the mouth angle and ipsilateral finger(s)/ hand. The current understanding of localization is a concomitant involvement of the spinothalamic and trigeminothalamic tract between the cortex and pons. The cervical spinal cord has not been mentioned in this situation yet, and this unusual location may heretofore increase the risk of misdiagnosis. Six patients who presented with unilateral COS due to cervical cord disorder are reported. All patients were women and their age ranged between 42 and 70 years. Their neurological deficits included unilateral paraesthesiae restricted to cheirooral distribution, positive radicular sign, and mild change of tendon reflex. Cervical spinal stenosis at middle/lower cervical spine with variable magnitude of cord compression and intrinsic cord damage was found. A diagnostic dilemma obviously arises from the lack of tangible neurological signs or typical pattern of myelopathy, in addition to the previous concept of cerebral involvement. A benign course ensued in all reported patients. Cheiro-oral syndrome can be an early neurological sign for cervical cord disorder; it further suggests that it is a strong neurological but weak localizing sign. A reciprocal influence of multiple factors is considered to generate COS at the cervical cord. Therefore, an absence of brain pathology should lead to a thorough examination of the cervical cord in case of COS.

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.

Retinitis pigmentosa inversa with unilateral high myopia with fellow eye optic disc pitting.

PubMed

Sheth, Saumil; Rush, Ryan; Narayanan, Raja

2011-01-01

To report a possible rare association of bilateral retinitis pigmentosa inversa (RPI) with unilateral high myopia with fellow eye optic disc pitting. A 55-year-old man with a history of reduced vision in the right eye since childhood presented with gradually decreasing vision in the left eye. On examination, a -23.00 diopter refractive error and diffuse chorioretinal atrophy consistent with pathologic myopia was found in the right eye. An optic disc pit with posterior pole pigmentary alterations thought to be consequent to a previous neurosensory detachment was found in the left eye. Though the retinal arteriolar attenuation seen in both eyes with an inconsistent history of night blindness since childhood pointed towards the possibility of a concurrently existing rod or rod-cone dystrophy, the posterior pole pigmentary alterations characteristic of RPI were clearly masked by the above pathologies. Optical coherence tomography demonstrated prominent foveal atrophy and an optic disc pit in the left eye. Electroretinography (ERG) demonstrated moderately attenuated amplitudes with prolonged implicit times of rod and cone responses bilaterally. The patient was diagnosed with bilateral RPI and anisometropic amblyopia in the right eye. This report documents a unique constellation of findings which include bilateral RPI and unilateral high myopia with an optic disc pit in the fellow eye. An ERG confirmation of a dystrophic etiology should be sought in suspicious cases, especially when findings are masked by the concurrent presence of other pathologies.

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.

Genetic dissection of the Gpnmb network in the eye.

PubMed

Lu, Hong; Wang, Xusheng; Pullen, Matthew; Guan, Huaijin; Chen, Hui; Sahu, Shwetapadma; Zhang, Bing; Chen, Hao; Williams, Robert W; Geisert, Eldon E; Lu, Lu; Jablonski, Monica M

2011-06-13

To use a systematic genetics approach to investigate the regulation of Gpnmb, a gene that contributes to pigmentary dispersion syndrome (PDS) and pigmentary glaucoma (PG) in the DBA/2J (D2) mouse. Global patterns of gene expression were studied in whole eyes of a large family of BXD mouse strains (n = 67) generated by crossing the PDS- and PG-prone parent (DBA/2J) with a resistant strain (C57BL/6J). Quantitative trait locus (eQTL) mapping methods and gene set analysis were used to evaluate Gpnmb coexpression networks in wild-type and mutant cohorts. The level of Gpnmb expression was associated with a highly significant cis-eQTL at the location of the gene itself. This autocontrol of Gpnmb is likely to be a direct consequence of the known premature stop codon in exon 4. Both gene ontology and coexpression network analyses demonstrated that the mutation in Gpnmb radically modified the set of genes with which Gpnmb expression is correlated. The covariates of wild-type Gpnmb are involved in biological processes including melanin synthesis and cell migration, whereas the covariates of mutant Gpnmb are involved in the biological processes of posttranslational modification, stress activation, and sensory processing. These results demonstrated that a systematic genetics approach provides a powerful tool for constructing coexpression networks that define the biological process categories within which similarly regulated genes function. The authors showed that the R150X mutation in Gpnmb dramatically modified its list of genetic covariates, which may explain the associated ocular pathology.

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.

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

[Double diagnosis and forensic psychiatric opinion].

PubMed

Kocur, Józef; Trendak, Wiesława

2009-01-01

Addiction to alcohol or any other psychoactive substance can run parallel with other diseases or mental disorders. One can then observe co-occurrence and mutual interaction of dysfunctions typical of addiction and of other mental disorders that accompany addiction. That is why, clinical pictures of such states (double diagnosis) are usually less unique, have an unusual course and cause diagnostic and therapeutic difficulty. The problem of forensic psychiatric opinion and treatment of people with a double diagnosis is another aspect of these difficulties. It is caused by the fact that forensic psychiatric assessment of the mental state of such people requires taking into consideration a very complex clinical and legal situation triggered by the interference of various ethiopathogenetic and clinical disorders. It leads to the need for complex evaluation and reference to sanity or other signs of functioning within the current law should result, first of all, from the analyses directly pertaining to the influence of the diagnosed disorders on the state of patients with double diagnosis. The forensic psychiatric aspect of disorders connected with double diagnosis is particularly significant as there is a relatively high risk of behaviours posing a threat to public order in this group of patients.

Factitious disorders in the hand-Main diagnostic traps highlighted with 3 cases.

PubMed

Bachy, M; Moncany, A-H; Tournier, C; Lievain, L; Fitoussi, F; Vialle, R; Auquit-Auckbur, I

2018-04-01

Every doctor can be confronted, during his career, with patients presenting symptoms they created themselves. Because it is easily accessible, the hand is a favored target organ for these self-inflicted injuries. The diagnosis of factitious disorder of the hand is very difficult, rarely suggested and widely under-estimated. The real issue is detecting it early on to develop a cohesive diagnostic and therapeutic approach. The three clinical cases reported in this article illustrate the difficulty of caring for this pathology at all stages, from diagnosis to treatment. These disorders must be distinguished from malingering. A psychiatrist must be part of the treatment team. The prognosis of factitious disorders is poor. It is vital to maintain contact with the patient once the diagnosis is established. The risk is that the patient consults with other professionals, restarting a new cycle. The featured clinical cases were chosen to remind surgeons that factitious disorders of the hand are a recognized psychiatric disease. It must be evoked in the context of an unusual injury with a vague history. Everything possible must be done to confirm the diagnosis and avoid surgery. Copyright © 2018 SFCM. Published by Elsevier Masson SAS. All rights reserved.

Challenges in Developing Novel Treatments for Childhood Disorders: Lessons from Research on Anxiety

PubMed Central

Pine, Daniel S; Helfinstein, Sarah M; Bar-Haim, Yair; Nelson, Eric; Fox, Nathan A

2009-01-01

Alterations in brain development may contribute to chronic mental disorders. Novel treatments targeted toward the early-childhood manifestations of such chronic disorders may provide unique therapeutic opportunities. However, attempts to develop and deliver novel treatments face many challenges. Work on pediatric anxiety disorders illustrates both the inherent challenges as well as the unusual opportunities for therapeutic advances. The present review summarizes three aspects of translational research on pediatric anxiety disorders as the work informs efforts to develop novel interventions. First, the review summarizes data on developmental conceptualizations of anxiety from both basic neuroscience and clinical perspectives. This summary is integrated with a discussion of the two best-established treatments, cognitive behavioral therapy and selective serotonin reuptake inhibitors. Second, the review summarizes work on attention bias to threat, considering implications for both novel treatments and translational research on neural circuitry functional development. This illustrates the manner in which clinical findings inform basic systems neuroscience research. Finally, the review summarizes work in basic science on fear learning, as studied in fear conditioning, consolidation, and extinction paradigms. This summary ends by describing potential novel treatments, illustrating the manner in which basic neuroscience informs therapeutics. PMID:18754004

The value of the study of natural history in genetic disorders and congenital anomaly syndromes.

PubMed Central

Hall, J G

1988-01-01

The study of the natural history of genetic disorders and syndromes with congenital anomalies and dysmorphic features is a challenging and often neglected area. There are many reasons to pursue this type of research but it requires special clinical skills and a considerable amount of hard work. Setting up protocols and collecting data is complex and time consuming. Frequently, helpful clues for a particular disorder come from the study of the natural history of other disorders. Older affected subjects and unique cases with unusual features are often most important in unravelling the 'normal' course of a disease or recognising the basic defect. The study of natural history from individual patients and their records is complementary to population or registry based studies because it identifies individual variations and clinical heterogeneity. The understanding of the natural history of a particular disorder is of importance both to the affected person and their family and to the physicians caring for them. It is also useful to the basic researcher trying to determine the pathogenetic mechanism causing the disorder. In many ways, clinical geneticists have learned the art of caring for patients, as well as the challenges of clinical genetics, by becoming apprentices to and studying in depth specific disease entities. PMID:3050091

Conversion Disorder; an Unusual Etiology of Unilateral Foot Drop.

PubMed

Ayaz, Saeed Bin; Matee, Sumeera; Malik, Riffat; Ahmad, Khalil

2015-06-01

Foot drop is generally a consequence of common peroneal or sciatic nerve injury or L5 radiculopathy but rarely, it can be a manifestation of conversion disorder. A 24-year-old male presented with a foot drop on left side that developed overnight. He had difficulty walking with a trunk tilt towards right side and numbness in left leg up to mid-thigh. The initial diagnosis by the general practitioner was common peroneal nerve injury, which was not supported by the subsequent detailed examination in the physiatry department. Routine laboratory investigations, computed tomographic scan of brain and electrophysiological evaluation were normal. In a multidisciplinary team evaluation involving a psychiatrist, he was diagnosed to be suffering from conversion disorder and was advised gait retraining, cognitive and behavioral therapy and tablet venlafaxine. By sixth day of treatment, the patient was able to walk independently with a normal gait pattern and reported complete recovery of his symptoms. In the absence of an identifiable organic cause of foot drop in a patient, conversion disorder may be considered necessitating early intervention by a psychiatrist.

Association between a serotonin transporter promoter polymorphism (5HTTLPR) and personality disorder traits in a community sample.

PubMed

Blom, Rianne M; Samuels, Jack F; Riddle, Mark A; Joseph Bienvenu, O; Grados, Marco A; Reti, Irving M; Eaton, William W; Liang, Kung-Yee; Nestadt, Gerald

2011-09-01

The serotonin transporter (SERT) polymorphism (5HTTLPR) has been reported to be associated with several psychiatric conditions. Specific personality disorders could be intermediate factors in the known relationship between 5HTTLPR and psychiatric disorders. This is the first study to test the association between this polymorphism and dimensions of all DSM-IV personality disorders in a community sample. 374 white participants were assessed by clinical psychologists using the International Personality Disorder Examination (IPDE). Associations between dimensions of each DSM-IV personality disorder and the long (l) and short (s) alleles of the 5HTTLPR were evaluated using non-parametric tests and regression models. The s allele of the 5HTTLPR polymorphism was significantly associated with higher avoidant personality trait scores in the whole sample. Males with the s allele had a significantly lower likelihood of higher obsessive-compulsive personality disorder (OCPD) trait scores, whereas females with the s allele were likely to have higher OCPD personality trait scores. This paper provides preliminary data on the relationship between personality disorders and the 5HTTLPR polymorphism. The relationship of the s allele and avoidant PD is consistent with findings of a nonspecific relationship of this polymorphism to anxiety and depressive disorders. Concerning the unusual sexual dimorphic result with OCPD, several hypotheses are presented. These findings need further replication, including a more detailed study of additional variants in SERT. Copyright © 2011 Elsevier Ltd. All rights reserved.

Association between a serotonin transporter promoter polymorphism (5-HTTLPR) and personality disorder traits in a community sample

PubMed Central

Blom, Rianne M.; Samuels, Jack F.; Riddle, Mark A.; Bienvenu, O. Joseph; Grados, Marco A.; Reti, Irving M.; Eaton, William W.; Liang, Kung-Yee; Nestadt, Gerald

2011-01-01

Background The serotonin transporter (SERT) polymorphism (5HTTLPR) has been reported to be associated with several psychiatric conditions. Specific personality disorders could be intermediate factors in the known relationship between 5HTTLPR and psychiatric disorders. This is the first study to test the association between this polymorphism and dimensions of all DSM-IV personality disorders in a community sample. Methods 374 white participants were assessed by clinical psychologists using the International Personality Disorder Examination (IPDE). Associations between dimensions of each DSM-IV personality disorder and the long (l) and short (s) alleles of the 5HTTLPR were evaluated using nonparametric tests and regression models. Results The s allele of the 5HTTLPR polymorphism was significantly associated with higher avoidant personality trait scores in the whole sample. Males with the s allele had a significantly lower likelihood of higher obsessive-compulsive personality disorder (OCPD) trait scores, whereas females with the s allele were likely to have higher OCPD personality trait scores. Conclusion This paper provides preliminary data on the relationship between personality disorders and the 5HTTLPR polymorphism. The relationship of the s allele and avoidant PD is consistent with findings of a nonspecific relationship of this polymorphism to anxiety and depressive disorders. Concerning the unusual sexual dimorphic result with OCPD, several hypotheses are presented. These findings need further replication, including a more detailed study of additional variants in SERT. PMID:21450307

Insights into the mechanism and inhibition of fatty acid amide hydrolase from quantum mechanics/molecular mechanics (QM/MM) modelling.

PubMed

Lodola, Alessio; Mor, Marco; Sirirak, Jitnapa; Mulholland, Adrian J

2009-04-01

FAAH (fatty acid amide hydrolase) is a promising target for the treatment of several central nervous system and peripheral disorders. Combined QM/MM (quantum mechanics/molecular mechanics) calculations have elucidated the role of its unusual catalytic triad in the hydrolysis of oleamide and oleoylmethyl ester substrates, and have identified the productive inhibitor-binding orientation for the carbamoylating compound URB524. These are potentially crucial insights for designing new covalent inhibitors of this drug target.

Munchausen Syndrome as Dermatitis Simulata

PubMed Central

Hariharasubramony, Ambika; Chankramath, Sujatha; Srinivasa, Seema

2012-01-01

Psychiatric comorbidity is associated with many dermatological disorders. It may be the cause for skin problem or may be the effect of a skin problem as skin being a visual organ. A 28-year-old female presented with multiple red lesions on the skin with unusual morphology and was diagnosed as dermatitis simulata. She gave history of multiple episodes of similar illnesses with admissions in various hospitals and being evaluated and dropping off in between treatments. After detailed psychological evaluation, patient was diagnosed as case of Munchausen syndrome. PMID:22661819

Behçet syndrome.

PubMed

Altiner, Ahmet; Mandal, Rajni

2010-11-15

We present a 34-year-old man with a two-year history of aphthous stomatitis, who later developed painful, erythematous nodules on his lower extremities. A pathergy test was positive, and the diagnosis of Behçet syndrome (BS) was made. It is important for the dermatologist to recognize the wide variety of cutaneous manifestations of this disorder. A pathergy test is a simple diagnostic tool that may assist in making a diagnosis. Case reports of other unusual skin manifestations in BS also are reviewed.

A woman with a dangling digit.

PubMed

Roesch, Alexander; Kinner, Bernd; Schaechinger, Ulrich; Obermann, Ellen C; Landthaler, Michael; Hohenleutner, Ulrich

2007-11-01

Ainhum (dactylolysis spontanea) is a distinct clinical and radiological disorder of dark-skinned people characterized by a progressive development of a constricting band encircling the toe which usually results in spontaneous amputation. Ainhum mainly occurs in African natives, but in times of global migration and tourism, Ainhum is likely to be more often encountered outside Africa. Even though the clinical presentation can mimic more common entities such as arthritis and trauma, the correct diagnosis and treatment is easy if one knows this unusual entity.

Unusual case of failure to thrive: Type III Bartter syndrome.

PubMed

Agrawal, S; Subedi, K; Ray, P; Rayamajhi, A

2016-09-01

Bartter syndrome Type III is a rare autosomal recessive disorder resulting from an inherited defect in the thick ascending limb of the loop of henle of the nephrons in kidney. The typical clinical manifestations in childhood are failure to thrive and recurrent episodes of vomiting. Typical laboratory findings which help in the diagnosis are hypokalemic metabolic alkalosis, hypomagnesemia and hypercalciuria. We report a case of Type III Bartter syndrome not responding to repeated conventional treatment of failure to thrive.

Personologic alignment and the treatment of posttraumatic distress.

PubMed

Everly, G

2001-01-01

The therapeutic alliance is generally considered the sine qua non of successful psychotherapy. Yet, establishing the therapeutic alliance with patients suffering from syndromes of posttraumatic distress (including posttraumatic stress disorder) represents an unusual challenge. This paper describes the use of a personality-based approach to the establishment of the therapeutic alliance. This approach is referred to as personologic alignment and consists of alignment with preferential processes, as well as thematic belief systems. It represents an integration of the personology of Theodore Millon and the rhetoric of Aristotle.

Enamel Pit Defects and Taurodontism in a Patient with Ring Chromosome 14 and 47,XXX.

PubMed

Townsend, Janice A; Lacour, Letitia; Scheuerle, Angela E

2017-01-15

The purpose of this paper is to describe the clinical findings and management of a case involving a patient with co-occurring ring chromosome 14 syndrome and 47,XXX presenting with enamel pit defects and taurodontism. Ring chromosome 14 syndrome is an unusual condition with uncontrolled seizure disorder as its most significant finding; 47,XXX (trisomy X; triple X) is a more common condition and has characteristic physical and behavioral findings. Neither condition has been associated with enamel pit defects.

Cardiovascular hoarseness: an unusual presentation to otolaryngologists.

PubMed

Fennessy, B G; Sheahan, P; McShane, D

2008-03-01

We discuss the case of a 73-year-old woman with a six-month history of hoarseness secondary to an aortic arch pseudoaneurysm. We present the findings of an extensive review of the literature relating to cardiovascular disorders involving the recurrent laryngeal nerve (i.e. Ortner's syndrome). Ortner's syndrome, also known as cardiovocal syndrome, is a rare condition, with few reports in the literature. This is only the second documented case of Ortner's syndrome in Great Britain and Ireland, and the first demonstrating an aortic pseudoaneurysm.

Extremely High Resolution Spectroscopy of Oxide Electronic Systems

DTIC Science & Technology

2013-01-29

about 0.3-0.4 Bohr Magnetons per unit sell – extremely strong, and it may be indicative of an unusual order parameter in the superconductor . Each of...Publication [1]), and the fact that the enhancement exists in a highly disordered sample. While the origin of the effect may lie in the same exchange...order  parameter  in  the   superconductor .   Each of these results has lead to interesting questions (detailed below) that we would like to

From mental disorder to iatrogenic hypogonadism: dilemmas in conceptualizing gender identity variants as psychiatric conditions.

PubMed

Meyer-Bahlburg, Heino F L

2010-04-01

The categorization of gender identity variants (GIVs) as "mental disorders" in the Diagnostic and Statistical Manual of Mental Disorders (DSM) of the American Psychiatric Association is highly controversial among professionals as well as among persons with GIV. After providing a brief history of GIV categorizations in the DSM, this paper presents some of the major issues of the ongoing debate: GIV as psychopathology versus natural variation; definition of "impairment" and "distress" for GID; associated psychopathology and its relation to stigma; the stigma impact of the mental-disorder label itself; the unusual character of "sex reassignment surgery" as a psychiatric treatment; and the consequences for health and mental-health services if the disorder label is removed. Finally, several categorization options are examined: Retaining the GID category, but possibly modifying its grouping with other syndromes; narrowing the definition to dysphoria and taking "disorder" out of the label; categorizing GID as a neurological or medical rather than a psychiatric disorder; removing GID from both the DSM and the International Classification of Diseases (ICD); and creating a special category for GIV in the DSM. I conclude that-as also evident in other DSM categories-the decision on the categorization of GIVs cannot be achieved on a purely scientific basis, and that a consensus for a pragmatic compromise needs to be arrived at that accommodates both scientific considerations and the service needs of persons with GIVs.

Ocular static and dynamic light scattering: a noninvasive diagnostic tool for eye research and clinical practice

NASA Technical Reports Server (NTRS)

Ansari, Rafat R.

2004-01-01

The noninvasive techniques of static and dynamic light scattering are emerging as valuable diagnostic tools for the early detection of ocular and systemic diseases. These include corneal abnormalities, pigmentary dispersion syndrome, glaucoma, cataract, diabetic vitreopathy, and possibly macular degeneration. Systemic conditions such as diabetes and possibly Alzheimer's disease can potentially be detected early via ocular tissues. The current state of development of these techniques for application to ophthalmic research and ultimately clinical practice is reviewed. (c) 2004 Society of Photo-Optical Instrumentation Engineers.

Sporadic Kindler syndrome with a novel mutation.

PubMed

Almeida, Hiram Larangeira de; Heckler, Gláucia Thomas; Fong, Kenneth; Lai-Cheong, Joey; McGrath, John

2013-01-01

We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. The diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene.

Emergent Rotational Symmetries in Disordered Magnetic Domain Patterns

NASA Astrophysics Data System (ADS)

Su, Run; Seu, Keoki A.; Parks, Daniel; Kan, Jimmy J.; Fullerton, Eric E.; Roy, Sujoy; Kevan, Stephen D.

2011-12-01

Uniaxial systems often form labyrinthine domains that exhibit short-range order but are macroscopically isotropic and would not be expected to exhibit precise symmetries. However, their underlying frustration results in a multitude of metastable configurations of comparable energy, and driving such a system externally might lead to pattern formation. We find that soft x-ray speckle diffraction patterns of the labyrinthine domains in CoPd/IrMn heterostructures reveal a diverse array of hidden rotational symmetries about the magnetization axis, thereby suggesting an unusual form of emergent order in an otherwise disordered system. These symmetries depend on applied magnetic field, magnetization history, and scattering wave vector. Maps of rotational symmetry exhibit intriguing structures that can be controlled by manipulating the applied magnetic field in concert with the exchange bias condition.

Emergent rotational symmetries in disordered magnetic domain patterns.

PubMed

Su, Run; Seu, Keoki A; Parks, Daniel; Kan, Jimmy J; Fullerton, Eric E; Roy, Sujoy; Kevan, Stephen D

2011-12-16

Uniaxial systems often form labyrinthine domains that exhibit short-range order but are macroscopically isotropic and would not be expected to exhibit precise symmetries. However, their underlying frustration results in a multitude of metastable configurations of comparable energy, and driving such a system externally might lead to pattern formation. We find that soft x-ray speckle diffraction patterns of the labyrinthine domains in CoPd/IrMn heterostructures reveal a diverse array of hidden rotational symmetries about the magnetization axis, thereby suggesting an unusual form of emergent order in an otherwise disordered system. These symmetries depend on applied magnetic field, magnetization history, and scattering wave vector. Maps of rotational symmetry exhibit intriguing structures that can be controlled by manipulating the applied magnetic field in concert with the exchange bias condition. © 2011 American Physical Society

Post-mortem genetic testing in a family with long-QT syndrome and hypertrophic cardiomyopathy.

PubMed

Kane, David A; Triedman, John

2014-01-01

Pediatric sudden unexplained deaths are rare and tragic events that should be evaluated with all the tools available to the medical community. The current state of genetic testing is an excellent resource that improves our ability to diagnose cardiovascular disorders that can lead to sudden cardiac arrest. Post-mortem genetic testing is not typically a covered benefit of health insurance and may not be offered to families in the setting of a negative autopsy. This unusual case includes two separate cardiovascular disorders that highlight the use of genetic testing and its role in diagnosis, screening, and risk stratification. The insurance company's decision to cover post-mortem testing demonstrated both compassion as well as an understanding of the long-term cost effectiveness. Copyright © 2014 Elsevier Inc. All rights reserved.

Speech and Language: Translating the Genome.

PubMed

Deriziotis, Pelagia; Fisher, Simon E

2017-09-01

Investigation of the biological basis of human speech and language is being transformed by developments in molecular technologies, including high-throughput genotyping and next-generation sequencing of whole genomes. These advances are shedding new light on the genetic architecture underlying language-related disorders (speech apraxia, specific language impairment, developmental dyslexia) as well as that contributing to variation in relevant skills in the general population. We discuss how state-of-the-art methods are uncovering a range of genetic mechanisms, from rare mutations of large effect to common polymorphisms that increase risk in a subtle way, while converging on neurogenetic pathways that are shared between distinct disorders. We consider the future of the field, highlighting the unusual challenges and opportunities associated with studying genomics of language-related traits. Copyright © 2017 Elsevier Ltd. All rights reserved.

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.

Advances in Skeletal Dysplasia Genetics

PubMed Central

Geister, Krista A.; Camper, Sally A.

2017-01-01

Skeletal dysplasias result from disruptions in normal skeletal growth and development and are a major contributor to severe short stature. They occur in approximately 1/5,000 births, and some are lethal. Since the most recent publication of the Nosology and Classification of Genetic Skeletal Disorders, genetic causes of 56 skeletal disorders have been uncovered. This remarkable rate of discovery is largely due to the expanded use of high-throughput genomic technologies. In this review, we discuss these recent discoveries and our understanding of the molecular mechanisms behind these skeletal dysplasia phenotypes. We also cover potential therapies, unusual genetic mechanisms, and novel skeletal syndromes both with and without known genetic causes. The acceleration of skeletal dysplasia genetics is truly spectacular, and these advances hold great promise for diagnostics, risk prediction, and therapeutic design. PMID:25939055

Effects of disordered Ru substitution in BaFe2As2: possible realization of superdiffusion in real materials.

PubMed

Wang, Limin; Berlijn, Tom; Wang, Yan; Lin, Chia-Hui; Hirschfeld, P J; Ku, Wei

2013-01-18

An unexpected insensitivity of the Fermi surface to impurity scattering is found in Ru substituted BaFe(2)As(2) from first-principles theory, offering a natural explanation of the unusual resilience of transport and superconductivity to a high level of disordered substitution in this material. This robustness is shown to originate from a coherent interference of correlated on-site and intersite impurity scattering, similar in spirit to the microscopic mechanism of superdiffusion in one dimension. Our result also demonstrates a strong substitution dependence of the Fermi surface and carrier concentration and provides a resolution to current discrepancies in recent photoelectron spectroscopy. These effects offer a natural explanation of the diminishing long-range magnetic, orbital, and superconducting orders with high substitution.

Unusual amnesia in a patient with VGKC-Ab limbic encephalitis: a case study.

PubMed

Kartsounis, Luke D; de Silva, Rajith

2011-04-01

We describe the case of a patient with confirmed voltage-gated potassium channel antibody-associated encephalitis (VGKC-Ab). MRI studies revealed bilateral hyper-intensity in the hippocampi, with their volumes preserved. At presentation, the patient's anterograde and retrograde memory skills were found to be impaired and he showed fluctuation in his ability to recall familiar information. Following treatment with immunotherapy, his condition improved considerably and, in a series of follow up assessments, he performed satisfactorily (i.e., within the average range or above) on formal tests of memory, as well as on a range of other cognitive tests, including tests of executive function. By contrast, in the context of contemporaneous unstructured interviews, he showed a strong tendency to confabulate. We argue that the reported case broadens the phenomenology of VGKC-Ab limbic encephalitis and raises important theoretical questions about the aetiology of this patient's most unusual memory disorder. Copyright © 2010 Elsevier Srl. All rights reserved.

Deep melting reveals liquid structural memory and anomalous ferromagnetism in bismuth.

PubMed

Shu, Yu; Yu, Dongli; Hu, Wentao; Wang, Yanbin; Shen, Guoyin; Kono, Yoshio; Xu, Bo; He, Julong; Liu, Zhongyuan; Tian, Yongjun

2017-03-28

As an archetypal semimetal with complex and anisotropic Fermi surface and unusual electric properties (e.g., high electrical resistance, large magnetoresistance, and giant Hall effect), bismuth (Bi) has played a critical role in metal physics. In general, Bi displays diamagnetism with a high volumetric susceptibility ([Formula: see text]10 -4 ). Here, we report unusual ferromagnetism in bulk Bi samples recovered from a molten state at pressures of 1.4-2.5 GPa and temperatures above [Formula: see text]1,250 K. The ferromagnetism is associated with a surprising structural memory effect in the molten state. On heating, low-temperature Bi liquid (L) transforms to a more randomly disordered high-temperature liquid (L') around 1,250 K. By cooling from above 1,250 K, certain structural characteristics of liquid L' are preserved in L. Bi clusters with characteristics of the liquid L' motifs are further preserved through solidification into the Bi-II phase across the pressure-independent melting curve, which may be responsible for the observed ferromagnetism.

Deep melting reveals liquid structural memory and anomalous ferromagnetism in bismuth

PubMed Central

Shu, Yu; Yu, Dongli; Hu, Wentao; Wang, Yanbin; Shen, Guoyin; Kono, Yoshio; Xu, Bo; He, Julong; Liu, Zhongyuan; Tian, Yongjun

2017-01-01

As an archetypal semimetal with complex and anisotropic Fermi surface and unusual electric properties (e.g., high electrical resistance, large magnetoresistance, and giant Hall effect), bismuth (Bi) has played a critical role in metal physics. In general, Bi displays diamagnetism with a high volumetric susceptibility (∼10−4). Here, we report unusual ferromagnetism in bulk Bi samples recovered from a molten state at pressures of 1.4–2.5 GPa and temperatures above ∼1,250 K. The ferromagnetism is associated with a surprising structural memory effect in the molten state. On heating, low-temperature Bi liquid (L) transforms to a more randomly disordered high-temperature liquid (L′) around 1,250 K. By cooling from above 1,250 K, certain structural characteristics of liquid L′ are preserved in L. Bi clusters with characteristics of the liquid L′ motifs are further preserved through solidification into the Bi-II phase across the pressure-independent melting curve, which may be responsible for the observed ferromagnetism. PMID:28289195

Anders Breivik: Extreme Beliefs Mistaken for Psychosis.

PubMed

Rahman, Tahir; Resnick, Phillip J; Harry, Bruce

2016-03-01

The case of Anders Breivik, who committed mass murder in Norway in 2011, stirred controversy among forensic mental health experts. His bizarrely composed compendium and references to himself as the "Knights Templar" raised concerns that he had a psychotic mental illness. Beliefs such as Mr. Breivik's that precede odd, unusual, or extremely violent behavior present a unique challenge to the forensic evaluator, who sometimes struggles to understand those beliefs. Psychotic disorder frequently is invoked to characterize odd, unusual, or extreme beliefs, with a classification that has evolved over time. However, the important concept of overvalued idea, largely ignored in American psychiatry, may better characterize these beliefs in some cases. We discuss the definitions of delusion and overvalued ideas in the context of Anders Breivik's rigidly held extreme beliefs. We also review the British definition of overvalued idea and discuss McHugh's construct, to introduce the term "extreme overvalued belief" as an aid in sharpening the forensic evaluator's conceptualization of these and similar beliefs. © 2016 American Academy of Psychiatry and the Law.

[Rehabilitation for intravaginal ejaculatory dysfunction with using a masturbation aid].

PubMed

Kobori, Yoshitomo; Aoki, Hiroaki; Nishio, Koujiro; Sato, Ryo; Ashizawa, Yoshio; Yagi, Hiroshi; So, Shigehiro; Arai, Gaku; Okada, Hiroshi

2012-05-01

Recently the incidence of intravaginal ejaculatory dysfunction is increasing among infertile couples in Japan. Some unusual ways of masturbation and psychogenic issues were reported to cause this disorder. Patients, who had done masturbation in an unusual way for long time since their adolescence, were difficult to gain normal intravaginal ejaculation by the behavior therapy which was used for erectile dysfunction. We, therefore, used a masturbation aid (TENGA) for rehabilitation of ejaculation to overcome this condition. From January, 2010 through March, 2011, a total of 16 patients with intravaginal ejaculatory dysfunction underwent rehabilitation of ejaculation using TENGA. Patients' satisfaction and achievement of intravaginal ejaculation were evaluated by the questionnaire. Twelve patients (75%) could ejaculate in the masturbation aid (TENGA). Five patients (31%) succeeded to ejaculate in the partner's vagina after rehabilitation. A masturbation aid (TENGA) was a useful tool to correct the way of masturbation and achieve normal intravaginal ejaculation. This masturbation aid can be one of the effective options for the treatment of intravaginal ejaculatory dysfunction.

A Rare Presentation of Isolated CNS Posttransplantation Lymphoproliferative Disorder

PubMed Central

Smith, Casey; Streicher, Andrew; Magnuson, Allison; Newman, Susan; Bertoli, Robert

2017-01-01

Posttransplantation lymphoproliferative disorder (PTLD) is a recognized and extremely morbid complication of solid organ transplantation, but central nervous system involvement, particularly in isolation, is rare. There are no standardized treatment strategies for PTLD, though commonly used strategies include reduction of immunosuppression, chemotherapy, rituximab, radiation, and surgery. We present a case of an unusual morphologic variant of primary central nervous system PTLD with successful response to rituximab and cranial radiation. A 69-year-old Asian male, who underwent postrenal transplant nine years earlier, presented with a one-month history of new onset seizure activity. His evaluation revealed multiple brain lesions on magnetic resonance imaging (MRI), as well as serologic and cerebrospinal fluid studies which were positive for Epstein-Barr Virus (EBV) infection. Ultimately, he underwent craniotomy with tissue biopsy with the final pathology report showing posttransplant lymphoproliferative disorder, polymorphic type. The patient was managed with reduction in immunosuppression, rituximab therapy, and cranial radiation treatments. He had demonstrated marked improvement in his neurologic function and was ultimately discharged to inpatient rehabilitation facility. PMID:28116196

A Rare Presentation of Isolated CNS Posttransplantation Lymphoproliferative Disorder.

PubMed

Morris, Jaime; Smith, Casey; Streicher, Andrew; Magnuson, Allison; Newman, Susan; Bertoli, Robert

2017-01-01

Posttransplantation lymphoproliferative disorder (PTLD) is a recognized and extremely morbid complication of solid organ transplantation, but central nervous system involvement, particularly in isolation, is rare. There are no standardized treatment strategies for PTLD, though commonly used strategies include reduction of immunosuppression, chemotherapy, rituximab, radiation, and surgery. We present a case of an unusual morphologic variant of primary central nervous system PTLD with successful response to rituximab and cranial radiation. A 69-year-old Asian male, who underwent postrenal transplant nine years earlier, presented with a one-month history of new onset seizure activity. His evaluation revealed multiple brain lesions on magnetic resonance imaging (MRI), as well as serologic and cerebrospinal fluid studies which were positive for Epstein-Barr Virus (EBV) infection. Ultimately, he underwent craniotomy with tissue biopsy with the final pathology report showing posttransplant lymphoproliferative disorder, polymorphic type. The patient was managed with reduction in immunosuppression, rituximab therapy, and cranial radiation treatments. He had demonstrated marked improvement in his neurologic function and was ultimately discharged to inpatient rehabilitation facility.

Dental health - a challenging problem for a patient with autism spectrum disorder.

PubMed

Lu, Yuan-Yuan; Wei, I-Hua; Huang, Chih-Chia

2013-01-01

Patients with autism spectrum disorders (ASDs) are at an increased risk for many diseases. However, little has been published about the dental health of patients with ASDs. Here, we describe the clinical presentations in a 28-year-old woman with autistic disorder. The most striking finding was the severe dental problems which had been neglected for several years. Our patient exhibited a combination of several factors that may have increased the risk of development of severe dental problem. The early recognition is still challenging to managing this unusual condition in patients with ASDs. From the experience of caring for this patient, a team of parents or caregivers, psychiatrist and dentist should be involved in maintaining oral health care of such patients with early intervention and long-term follow-up. Evidence-based behavioral management approaches for patients with ASD need to be developed to improve compliance with oral care procedures. Copyright © 2013 Elsevier Inc. All rights reserved.

Adult-onset tic disorder, motor stereotypies, and behavioural disturbance associated with antibasal ganglia antibodies.

PubMed

Edwards, Mark J; Dale, Russell C; Church, Andrew J; Trikouli, Eleni; Quinn, Niall P; Lees, Andrew J; Giovannoni, Gavin; Bhatia, Kailash P

2004-10-01

The onset of tics in adulthood is rare and, unlike the childhood variety, there is commonly a secondary environmental cause. We present four cases (1 man, 3 women) with an adult onset tic disorder (mean age of onset, 36 years; range, 27-42 years) associated with the presence of serum antibasal ganglia antibodies (ABGA). One patient had motor tics and unusual motor stereotypies, 2 had multiple motor and vocal tics, and the remaining patient had motor tics only. Concomitant psychiatric disturbance was noted in 3 cases. In 2 cases, there was a close temporal relationship between upper respiratory tract infection and the subsequent onset of tics. Imaging was possible in three cases and was normal in two but revealed a lesion involving the right caudate and lentiform nuclei in the other. We suggest that there might be a causal relationship between ABGA and the clinical syndrome in these cases and that ABGA should be considered as a possible etiology for adult-onset tics. (c) 2004 Movement Disorder Society.

Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician.

PubMed

Kaczorowska, Ewa; Zimowski, Janusz; Cichoń-Kotek, Monika; Mrozińska, Agnieszka; Purzycka, Joanna; Wierzba, Jolanta; Limon, Janusz; Lipska-Ziętkiewicz, Beata S

Turner syndrome is a relatively common chromosomal disorder which affects about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive disorder affecting 1:3600 live born males. Considering the above, the coexistence of these two diseases may occur only anecdotally. Here, we report a 4 ½ year-old female with classical 45,X Turner syndrome who also had Duchenne muscular dystrophy caused by a point mutation in the dystrophin gene (c.9055delG). The patient showed the typical phenotype of Turner syndrome including distinctive dysmorphic features (short neck, low posterior hairline, wide position of nipples), aortic coarctation and feet lymphedema. Besides, she presented with an unusually early beginning of muscular dystrophy symptoms with infantile-onset motor developmental delay, intellectual disability and early calf muscular hypertrophy. The coexistence of an X-linked recessive disorder should be considered in women affected by Turner syndrome presenting with additional atypical clinical features.

Abraham Lincoln's marfanoid mother: the earliest known case of multiple endocrine neoplasia type 2B?

PubMed

Sotos, John G

2012-07-01

The nature and cause of President Abraham Lincoln's unusual physical features have long been debated, with the greatest attention directed at two monogenic disorders of the transforming growth factor β system: Marfan syndrome and multiple endocrine neoplasia type 2B. The present report examines newly discovered phenotypic information about Lincoln's biological mother, Nancy Hanks Lincoln, and concludes that (a) Lincoln's mother was skeletally marfanoid, (b) the President and his mother were highly concordant for the presence of numerous facial features found in various transforming growth factor β disorders, and (c) Lincoln's mother, like her son, had hypotonic skeletal muscles, resulting in myopathic facies and 'pseudodepression'. These conclusions establish that mother and son had the same monogenic autosomal dominant marfanoid disorder. A description of Nancy Hanks Lincoln as coarse-featured, and a little-known statement that a wasting disease contributed to her death at age 34, lends support to the multiple endocrine neoplasia type 2B hypothesis.

Interaction and Correlation Effects in Quasi Two-dimensional Materials

NASA Astrophysics Data System (ADS)

Louie, Steven G.

2015-03-01

Experimental and theoretical studies of atomically thin quasi two-dimensional materials (typically related to some parent van der Waals layered crystals) and their nanostructures have revealed that these systems can exhibit highly unusual behaviors. In this talk, we discuss some theoretical studies of the electronic, transport and optical properties of such systems. We present results on graphene and graphene nanostructures as well as other quasi-2D systems such as monolayer and few-layer transition metal dichalcogenides (e.g., MoS2, MoSe2, WS2, and WSe2) and metal monochalcogenides (such as GaSe and FeSe). Owing to their reduced dimensionality, these systems present opportunities for unusual manifestation of concepts and phenomena that may not be so prominent or have not been seen in bulk materials. Symmetry and many-body interaction effects often play a critical role in shaping qualitatively and quantitatively their properties. Several quantum phenomena are discussed, including novel and dominant exciton effects, tunable magnetism, electron supercollimation by disorder, unusual plasmon behaviors, and possible enhanced superconductivity in some of these systems. We investigate their physical origins and compare theoretical predictions with experimental data. This work was supported by DOE under Contract No. DE-AC02-05CH11231 and by NSF under Grant No. DMR10-1006184. I would like to acknowledge collaborations with members of the Louie group and the experimental groups of Crommie, Heinz, Wang, and Zhang.

Mastocytosis presenting as a skeletal disorder.

PubMed Central

Delsignore, J. L.; Dvoretsky, P. M.; Hicks, D. G.; O'Keefe, R. J.; Rosier, R. N.

1996-01-01

Mastocytosis is a rare disease of mast-cell proliferation with involvement of the reticuloendothelial systems including skin, bone, gastrointestinal tract, liver, lungs, spleen, and lymph nodes. Systemic mastocytosis is characterized by a combination of symptoms that relate to the mast cells' release of vasoactive substances, such as histamine. These symptoms include urticaria pigmentosa, flushing, syncope with hypotension, headaches, nausea, vomiting, diarrhea, and occasional bronchospasm. The diagnosis of mastocytosis is typically based on the presence of the characteristic extraosseus manifestations. A well recognized roentgenographic feature seen in 70-75% of patients with mastocytosis is diffuse osteolysis and osteosclerosis, affecting primarily the axial skeleton and the ends of the long bones. Rarely, the bony involvement consists of generalized osteoporosis, which may lead to pathologic fracture, or solitary lesions (mastocytomas) which may cause symptoms of localized pain. Four patients with previously diagnosed systemic mastocytosis had unusual skeletal lesions. Clinical and laboratory evaluation of these patients eventually led to the correct diagnosis of systemic mastocytosis. We report these four cases to emphasize the need for thorough evaluation of unusual musculoskeletal findings in association with extraosseus symptoms that are characteristic of mastocytosis. Knowledge of a wide differential diagnosis of unusual skeletal lesions should include systemic mastosytosis. Images Figure 1 Figure 2 Figure 3A Figure 3B Figure 4 Figure 5A Figure 5B-5C Figure 6 PMID:9129284

Formation of unusual Cr5+ charge state in CaCr0.5Fe0.5O3 perovskite

NASA Astrophysics Data System (ADS)

Dai, Jian-Hong; Zhao, Qing; Sun, Qian; Zhang, Shuo; Wang, Xiao; Shen, Xu-Dong; Liu, Zhe-Hong; Shen, Xi; Yu, Ri-Cheng; Chan, Ting-Shan; Li, Lun-Xiong; Zhou, Guang-Hui; Yang, Yi-feng; Jin, Chang-Qing; Long, You-Wen

2018-03-01

A new oxide CaCr0.5Fe0.5O3 was prepared under high pressure and temperature conditions. It crystallizes in a B-site disordered Pbnm perovskite structure. The charge combination is determined to be Cr5+/Fe3+ with the presence of unusual Cr5+ state in octahedral coordination, although Cr4+ and Fe4+ occur in the related perovskites CaCrO3 and CaFeO3. The randomly distributed Cr5+ and Fe3+ spins lead to short-range ferromagnetic coupling, whereas an antiferromagnetic phase transition takes place near 50 K due to the Fe3+–O–Fe3+ interaction. In spite of the B-site Cr5+/Fe3+ disorder, the compound exhibits electrical insulating behavior. First-principles calculations further demonstrate the formation of {CaCr}}0.55+{Fe}}0.53+{{{O}}}3 charge combination, and the electron correlation effect of Fe3+ plays an important role for the insulting ground state. CaCr0.5Fe0.5O3 provides the first Cr5+ perovskite system with octahedral coordination, opening a new avenue to explore novel transition-metal oxides with exotic charge states. Project supported by the National Natural Science Foundation of China (Grant Nos. 11574378, 51772324, and 61404052),the National Basic Research Program of China (Grant No. 2014CB921500), and the Chinese Academy of Sciences (Grant Nos. YZ201555, QYZDB-SSW-SLH013, GJHZ1773, and XDB07030300).

George E. Valley, Jr. Prize Talk: Quantum Frustrated Magnetism and its Expression in the Ground State Selection of Pyrochlore Magnets

NASA Astrophysics Data System (ADS)

Ross, Kate

In the search for novel quantum states of matter, such as highly entangled Quantum Spin Liquids, ``geometrically frustrated'' magnetic lattices are essential for suppressing conventional magnetic order. In three dimensions, the pyrochlore lattice is the canonical frustrated geometry. Magnetic materials with pyrochlore structures have the potential to realize unusual phases such as ``quantum spin ice'', which is predicted to host emergent magnetic monopoles, electrons, and photons as its fundamental excitations. Even in pyrochlores that form long range ordered phases, this often occurs through unusual routes such as ``order by disorder'', in which the fluctuation spectrum dictates the preferred ordered state. The rare earth-based pyrochlore series R2Ti2O7 provides a fascinating variety of magnetic ground states. I will introduce the general anisotropic interaction Hamiltonian that has been successfully used to describe several materials in this series. Using inelastic neutron scattering, the relevant anisotropic interaction strengths can be extracted quantitatively. I will discuss this approach, and its application to two rare earth pyrochlore materials, Er2Ti2O7 and Yb2Ti<2O7, whose ground state properties have long been enigmatic. From these studies, ErTi2O7 and Yb2Ti2O7 have been suggested to be realizations of "quantum order by disorder" and "quantum spin ice", respectively. This research was supported by NSERC of Canada and the National Science Foundation.

A Novel Hepacivirus with an Unusually Long and Intrinsically Disordered NS5A Protein in a Wild Old World Primate

PubMed Central

Lauck, Michael; Sibley, Samuel D.; Lara, James; Purdy, Michael A.; Khudyakov, Yury; Hyeroba, David; Tumukunde, Alex; Weny, Geoffrey; Switzer, William M.; Chapman, Colin A.; Hughes, Austin L.; Friedrich, Thomas C.; O'Connor, David H.

2013-01-01

GB virus B (GBV-B; family Flaviviridae, genus Hepacivirus) has been studied in New World primates as a model for human hepatitis C virus infection, but the distribution of GBV-B and its relatives in nature has remained obscure. Here, we report the discovery of a novel and highly divergent GBV-B-like virus in an Old World monkey, the black-and-white colobus (Colobus guereza), in Uganda. The new virus, guereza hepacivirus (GHV), clusters phylogenetically with GBV-B and recently described hepaciviruses infecting African bats and North American rodents, and it shows evidence of ancient recombination with these other hepaciviruses. Direct sequencing of reverse-transcribed RNA from blood plasma from three of nine colobus monkeys yielded near-complete GHV genomes, comprising two distinct viral variants. The viruses contain an exceptionally long nonstructural 5A (NS5A) gene, approximately half of which codes for a protein with no discernible homology to known proteins. Computational structure-based analyses indicate that the amino terminus of the GHV NS5A protein may serve a zinc-binding function, similar to the NS5A of other viruses within the family Flaviviridae. However, the 521-amino-acid carboxy terminus is intrinsically disordered, reflecting an unusual degree of structural plasticity and polyfunctionality. These findings shed new light on the natural history and evolution of the hepaciviruses and on the extent of structural variation within the Flaviviridae. PMID:23740998

A novel hepacivirus with an unusually long and intrinsically disordered NS5A protein in a wild Old World primate.

PubMed

Lauck, Michael; Sibley, Samuel D; Lara, James; Purdy, Michael A; Khudyakov, Yury; Hyeroba, David; Tumukunde, Alex; Weny, Geoffrey; Switzer, William M; Chapman, Colin A; Hughes, Austin L; Friedrich, Thomas C; O'Connor, David H; Goldberg, Tony L

2013-08-01

GB virus B (GBV-B; family Flaviviridae, genus Hepacivirus) has been studied in New World primates as a model for human hepatitis C virus infection, but the distribution of GBV-B and its relatives in nature has remained obscure. Here, we report the discovery of a novel and highly divergent GBV-B-like virus in an Old World monkey, the black-and-white colobus (Colobus guereza), in Uganda. The new virus, guereza hepacivirus (GHV), clusters phylogenetically with GBV-B and recently described hepaciviruses infecting African bats and North American rodents, and it shows evidence of ancient recombination with these other hepaciviruses. Direct sequencing of reverse-transcribed RNA from blood plasma from three of nine colobus monkeys yielded near-complete GHV genomes, comprising two distinct viral variants. The viruses contain an exceptionally long nonstructural 5A (NS5A) gene, approximately half of which codes for a protein with no discernible homology to known proteins. Computational structure-based analyses indicate that the amino terminus of the GHV NS5A protein may serve a zinc-binding function, similar to the NS5A of other viruses within the family Flaviviridae. However, the 521-amino-acid carboxy terminus is intrinsically disordered, reflecting an unusual degree of structural plasticity and polyfunctionality. These findings shed new light on the natural history and evolution of the hepaciviruses and on the extent of structural variation within the Flaviviridae.

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.

A Difference in Cutaneous Pigmentary Response to LED Versus Halogen Incandescent Visible Light: A Case Report from a Single Center, Investigational Clinical Trial Determining a Minimal Pigmentary Visible Light Dose.

PubMed

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

2017-04-01

BACKGROUND: While most of the attention regarding skin pigmentation has focused on the effects on ultraviolet radiation, the cutaneous effects of visible light (400 to 700nm) are rarely reported. In this report, we describe a case of painful erythema and induration that resulted from direct irradiation of UV-naïve skin with visible LED light in a patient with Fitzpatrick type II skin.

METHODS AND RESULTS: A 24-year-old healthy woman with Fitzpatrick type II skin presented to our department to participate in a clinical study. As part of the study, the subject underwent visible light irradiation with an LED and halogen incandescent visible light source. After 5 minutes of exposure, the patient complained of appreciable pain at the LED exposed site. Evaluation demonstrated erythema and mild induration. There were no subjective or objective findings at the halogen incandescent irradiated site, which received equivalent fluence (0.55 Watts / cm2). The study was halted as the subject was unable to tolerate the full duration of visible light irradiation.

CONCLUSION: This case illustrates the importance of recognizing the effects of visible light on skin. While the vast majority of investigational research has focused on ultraviolet light, the effects of visible light have been largely overlooked and must be taken into consideration, in all Fitzpatrick skin types.

J Drugs Dermatol. 2017;16(4):388-392.

Coloration principles of nymphaline butterflies - thin films, melanin, ommochromes and wing scale stacking.

PubMed

Stavenga, Doekele G; Leertouwer, Hein L; Wilts, Bodo D

2014-06-15

The coloration of the common butterflies Aglais urticae (small tortoiseshell), Aglais io (peacock) and Vanessa atalanta (red admiral), belonging to the butterfly subfamily Nymphalinae, is due to the species-specific patterning of differently coloured scales on their wings. We investigated the scales' structural and pigmentary properties by applying scanning electron microscopy, (micro)spectrophotometry and imaging scatterometry. The anatomy of the wing scales appears to be basically identical, with an approximately flat lower lamina connected by trabeculae to a highly structured upper lamina, which consists of an array of longitudinal, parallel ridges and transversal crossribs. Isolated scales observed at the abwing (upper) side are blue, yellow, orange, red, brown or black, depending on their pigmentation. The yellow, orange and red scales contain various amounts of 3-OH-kynurenine and ommochrome pigment, black scales contain a high density of melanin, and blue scales have a minor amount of melanin pigment. Observing the scales from their adwing (lower) side always revealed a structural colour, which is blue in the case of blue, red and black scales, but orange for orange scales. The structural colours are created by the lower lamina, which acts as an optical thin film. Its reflectance spectrum, crucially determined by the lamina thickness, appears to be well tuned to the scales' pigmentary spectrum. The colours observed locally on the wing are also due to the degree of scale stacking. Thin films, tuned pigments and combinations of stacked scales together determine the wing coloration of nymphaline butterflies. © 2014. Published by The Company of Biologists Ltd.