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https://www.readbyqxmd.com/read/27906547/late-diagnosis-of-pomc-deficiency-and-in-vitro-evidence-of-residual-translation-from-allele-with-c-11c-a-mutation
#1
Aleksandra S Anisimova, Petr M Rubtsov, Kseniya A Akulich, Sergey E Dmitriev, Elena Frolova, Anatoly Tiulpakov
CONTEXT: Loss-of-function mutations in the POMC gene are associated with the syndrome of adrenal insufficiency, obesity and red hair. We describe here a case of POMC deficiency, in which adrenal insufficiency was not treated until the fourth year of life. One of the disease-causative POMC mutations was characterized in vitro using a new approach. CASE DESCRIPTION: A boy presented in the first year of life with red hair, growth acceleration, moderate obesity and recurrent cholestasis, which was followed by two episodes of hypoglycemia at ages of 1...
December 1, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27904832/frontal-fibrosing-alopecia-treatment-options
#2
Raymond Fertig, Antonella Tosti
Frontal fibrosing alopecia (FFA) is a rare dermatologic disease that causes scarring and hair loss and is increasing in prevalence worldwide. FFA patients typically present with hair loss in the frontal scalp region and eyebrows which may be associated with sensations of itching or burning. FFA is a clinically distinct variant of lichen planopilaris (LPP) that affects predominantly postmenopausal women, although men and premenopausal women may also be affected. Early diagnosis and prompt treatment are necessary to prevent definitive scarring and permanent hair loss...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27904180/evaluation-of-clinical-significance-of-dermoscopy-in-alopecia-areata
#3
Akhila Sai Guttikonda, Chintaginjala Aruna, D V S B Ramamurthy, K Sridevi, Senthil Kumar L Alagappan
BACKGROUND: Alopecia areata (AA) is a common, chronic inflammatory disease characterized by nonscarring hair loss on the scalp or any hair-bearing area of the body. Recently, dermoscopy, a noninvasive diagnostic procedure, has been employed for the diagnosis of AA. AIM: To evaluate various dermoscopic patterns in AA and correlate these patterns with the disease activity and severity. MATERIALS AND METHODS: Dermoscopy was performed on AA patients using DL1 dermoscope (magnification ×10 was used)...
November 2016: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/27898607/effects-of-intratympanic-dexamethasone-on-high-dose-radiation-ototoxicity-in-vivo
#4
Christine T Dinh, Si Chen, John Dinh, Stefania Goncalves, Esperanza Bas, Kyle Padgett, Perry Johnson, Nagy Elsayyad, Fred Telischi, Thomas Van De Water
BACKGROUND: Stereotactic radiosurgery for lateral skull base tumors can cause hearing loss when the cochleae are exposed to high doses of single-fraction radiation. Currently, there are no known nondosimetric preventative treatments for radiation-induced ototoxicity. HYPOTHESIS: Intratympanic (IT) dexamethasone (DXM), a synthetic steroid, protects against radiation-induced auditory hair cell (HC) and hearing losses in rats in vivo. METHODS: Seven rats received radiation (12 Gy) to both cochleae...
November 24, 2016: Otology & Neurotology
https://www.readbyqxmd.com/read/27896618/loss-of-liver-kinase-b1-causes-planar-polarity-defects-in-cochlear-hair-cells-in-mice
#5
Yuqin Men, Aizhen Zhang, Liwen Zhang, Yecheng Jin, Zhishuo Wang, Jing Zhao, Xiaolin Yu, Jian Zhang, Jiangang Gao
The tumor suppressor gene liver kinase B1 (LKB1), also called STK11, encodes a serine/threonine kinase. LKB1 plays crucial roles in cell differentiation, proliferation, and polarity. In this study, LKB1 conditional knockout mice (LKB1(Pax2) CKO mice) were generated using Pax2-Cre mice to investigate the function of LKB1 in inner ear hair cells during early embryonic period. LKB1(Pax2) CKO mice died perinatally. Immunofluorescence and scanning electron microscopy revealed that stereociliary bundles in LKB1(Pax2) CKO mice were clustered and misoriented, respectively...
November 28, 2016: Frontiers of Medicine
https://www.readbyqxmd.com/read/27896487/natural-compounds-as-occult-ototoxins-ginkgo-biloba-flavonoids-moderately-damage-lateral-line-hair-cells
#6
Sarah Neveux, Nicole K Smith, Anna Roche, Bruce E Blough, Wimal Pathmasiri, Allison B Coffin
Several drugs, including aminoglycosides and platinum-based chemotherapy agents, are well known for their ototoxic properties. However, FDA-approved drugs are not routinely tested for ototoxicity, so their potential to affect hearing often goes unrecognized. This issue is further compounded for natural products, where there is a lack of FDA oversight and the manufacturer is solely responsible for ensuring the safety of their products. Natural products such as herbal supplements are easily accessible and commonly used in the practice of traditional eastern and alternative medicine...
November 28, 2016: Journal of the Association for Research in Otolaryngology: JARO
https://www.readbyqxmd.com/read/27896178/comparison-of-saccharina-japonica-undaria-pinnatifida-mixture-and-minoxidil-on-hair-growth-promoting-effect-in-mice
#7
Ki Soo Park, Dae Hwan Park
BACKGROUND: Algae have traditionally been used for promotion of hair growth. Use of hair regrowth drugs, such as minoxidil, is limited due to side effects. The aim of this study was to examine a mixture of Saccharina japonica and Undaria pinnatifida (L-U mixture) on hair growth and to compare the promoting effect of hair growth by a 3% minoxidil and a L-U mixture. METHODS: To evaluate the hair growth-promoting activity, saline, 50% ethanol, 3% minoxidil, and the L-U mixture were applied 2 times a day for a total of 14 days on the dorsal skin of C57BL/6 mice after depilation...
November 2016: Archives of Plastic Surgery
https://www.readbyqxmd.com/read/27895287/sudden-sensorineural-hearing-loss-is-there-a-connection-with-inner-ear-electrolytic-disorders-a-literature-review
#8
EDITORIAL
Andrea Ciorba, Virginia Corazzi, Chiara Bianchini, Claudia Aimoni, Henryk Skarzynski, Piotr Henryk Skarzynski, Stavros Hatzopoulos
Electrolytic disorders of the inner ear represent a model that could be implicated in partially explaining the pathogenesis of sudden sensorineural hearing loss (SSNHL). Different types of electrolytes and different inner-ear loci are involved in cochlear homeostasis physiologically, to ensure the maintenance of an ion-balanced cochlear environment allowing a normal hair cell function. It has been hypothesized that a sudden loss of endocochlear potential, due to a rapid disruption of the inner ear fluid osmolality, could be responsible for a deterioration of the hearing function caused by damaged hair cells...
December 2016: International Journal of Immunopathology and Pharmacology
https://www.readbyqxmd.com/read/27891689/deficit-in-acoustic-signal-in-noise-detection-in-glycine-receptor-%C3%AE-3-subunit-knockout-mice
#9
Konstantin Tziridis, Stefanie Buerbank, Volker Eulenburg, Julia Dlugaiczyk, Holger Schulze
Hearing is an essential sense for communication in animals and humans. Normal function of the cochlea of higher vertebrates relies on a fine-tuned interplay of afferent and efferent innervation of both inner and outer hair cells. Efferent inhibition is controlled via olivocochlear feedback loops, mediated mainly by acetylcholine, γ-aminobutyric acid (GABA) and glycine, and is one of the first sites affected by synapto- and neuropathy in the development of hearing loss. While the functions of acetylcholine, GABA, and other inhibitory transmitters within these feedback loops are at least partially understood, especially the function of glycine still remains elusive...
November 27, 2016: European Journal of Neuroscience
https://www.readbyqxmd.com/read/27890677/time-course-of-organ-of-corti-degeneration-after-noise-exposure
#10
Barbara A Bohne, Melissa Kimlinger, Gary W Harding
From our permanent collection of plastic-embedded flat preparations of chinchilla cochleae, 22 controls and 199 ears from noise-exposed animals were used to determine when, postexposure, hair cell (HC) and supporting cell (SC) degeneration were completed. The exposed ears were divided into four groups based on exposure parameters: 0.5- or 4-kHz octave band of noise at moderate (M) or high (H) intensities. Postexposure survival ranged from < 1 h to 2.5 y. Ears fixed ≤ 0-12 h postexposure were called ‛acute‛...
November 24, 2016: Hearing Research
https://www.readbyqxmd.com/read/27890673/functional-validation-of-abhd12-mutations-in-the-neurodegenerative-disease-pharc
#11
Angèle Tingaud-Sequeira, Demetrio Raldúa, Julie Lavie, Guilaine Mathieu, Magali Bordier, Anja Knoll-Gellida, Pierre Rambeau, Isabelle Coupry, Michèle André, Eva Malm, Claes Möller, Sten Andreasson, Nanna D Rendtorff, Lisbeth Tranebjærg, Michel Koenig, Didier Lacombe, Cyril Goizet, Patrick J Babin
ABHD12 mutations have been linked to neurodegenerative PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract), a rare, progressive, autosomal, recessive disease. Although ABHD12 is suspected to play a role in the lysophosphatidylserine and/or endocannabinoid pathways, its precise functional role(s) leading to PHARC disease had not previously been characterized. Cell and zebrafish models were designed to demonstrate the causal link between an identified new missense mutation p...
November 23, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27890406/cutaneous-histiocytic-sarcoma-with-regional-lymph-node-metastasis-in-a-netherland-dwarf-rabbit-oryctolagus-cuniculus
#12
M R Karim, T Izawa, M Pervin, H Sasai, M Kuwamura, J Yamate
A 10-year-old male Netherland dwarf rabbit (Oryctolagus cuniculus) was presented with a red nodular mass (1 cm in diameter) with ulceration and hair loss in the skin of the left upper lip. Cytological examination revealed atypical round cells. The mass was excised surgically. Histologically, the mass was composed of large round to polyhedral neoplastic cells with marked cytological atypia. The neoplastic cells were often binucleated or multinucleated. Immunohistochemically, the neoplastic cells were intensely positive for Iba1 and vimentin, but fewer neoplastic cells expressed E-cadherin...
November 24, 2016: Journal of Comparative Pathology
https://www.readbyqxmd.com/read/27889835/valproic-acid-reduces-hair-loss-and-improves-survival-in-patients-receiving-temozolomide-based-radiation-therapy-for-high-grade-glioma
#13
Shinichi Watanabe, Yui Kuwabara, Satoshi Suehiro, Daisuke Yamashita, Mamoru Tanaka, Akihiro Tanaka, Shiro Ohue, Hiroaki Araki
PURPOSE: Valproic acid (VPA), a histone deacetylase (HDAC) inhibitor, is also used to manage seizures in glioblastoma patients. HDAC inhibitors can protect normal cells and tissues from the deleterious effects of radiotherapy, and VPA is reported to improve the survival of glioblastoma patients receiving chemoradiation therapy. VPA also promotes hair growth, and thus has the potential to reduce the radiotherapy side effect of hair loss while improving the survival of patients with glioblastoma...
November 26, 2016: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/27889116/total-phallic-reconstruction-using-radial-forearm-free-flap-after-iatrogenic-penile-amputation
#14
J C Angulo, I Arance, C Gómez-Llorens, C Esquinas, C Gómez-Martín, J L Fernández-Cañamaque
INTRODUCTION: The iatrogenic loss of the penis is a rare situation. We present a challenging case of deferred total penile reconstruction in a genetic male. MATERIAL AND METHODS: A 57-year-old man with the loss of the penis due to a penile abscess and necrosis secondary to penile curvature surgery. The reconstruction was performed over several operations using a radial forearm free flap (RFFF) and placement of a customised inflatable prosthesis a year later. RESULTS: During the first operation, the penile abscess was drained, the necrotic residues were debrided and placement of hypogastric drainage...
November 23, 2016: Actas Urologicas Españolas
https://www.readbyqxmd.com/read/27885534/zinc-deficiency-after-gastric-bypass-for-morbid-obesity-a-systematic-review
#15
REVIEW
Kamal K Mahawar, Aparna Govil Bhasker, Vivek Bindal, Yitka Graham, Usha Dudeja, Muffazal Lakdawala, Peter K Small
Up to 50% of patients have zinc deficiency before bariatric surgery. Roux-en-Y gastric bypass (RYGB) is the commonest bariatric procedure worldwide. It can further exacerbate zinc deficiency by reducing intake as well as absorption. The British Obesity and Metabolic Surgery Society, therefore, recommends that zinc level should be monitored routinely following gastric bypass. However, the American guidance does not recommend such monitoring for all RYGB patients and reserves it for patients with 'specific findings'...
November 24, 2016: Obesity Surgery
https://www.readbyqxmd.com/read/27882946/er-stress-inhibitor-attenuates-hearing-loss-and-hair-cell-death-in-cdh23-erl-erl-mutant-mice
#16
Juan Hu, Bo Li, Luke Apisa, Heping Yu, Shami Entenman, Min Xu, Ruben Stepanyan, Bo-Jhih Guan, Ulrich Müller, Maria Hatzoglou, Qing Yin Zheng
Hearing loss is one of the most common sensory impairments in humans. Mouse mutant models helped us to better understand the mechanisms of hearing loss. Recently, we have discovered that the erlong (erl) mutation of the cadherin23 (Cdh23) gene leads to hearing loss due to hair cell apoptosis. In this study, we aimed to reveal the molecular pathways upstream to apoptosis in hair cells to exploit more effective therapeutics than an anti-apoptosis strategy. Our results suggest that endoplasmic reticulum (ER) stress is the earliest molecular event leading to the apoptosis of hair cells and hearing loss in erl mice...
November 24, 2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27881935/hair-diseases-a-big-problem-on-a-small-surface
#17
REVIEW
Ligia A Brzezińska-Wcisło, Dominika Wcisło-Dziadecka
Civilizational progress initially contributes to the problem of hair loss and then to alopecia as regards both frequency and therapeutic dilemmas. The work presents trichological problems which occur more rarely, i.e. drug-induced, anagen and telogen alopecia, congenital and acquired structural hair disorders, psychic disturbances concerning the hair as well as the hair during menopause. Then, the article briefly describes contagious (infectious) diseases as well as diseases with inflammatory etiology which are accompanied by exfoliation and (frequently) pruritus...
October 2016: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/27881797/deterioration-of-vestibular-cells-in-labyrinthitis
#18
Serdar Kaya, Patricia A Schachern, Vladimir Tsuprun, Michael M Paparella, Sebahattin Cureoglu
OBJECTIVE: To quantitatively assess the effect of serous labyrinthitis, suppurative labyrinthitis, and labyrinthitis ossificans on vestibular hair cells, dark cells, and transitional cells. METHODS: We examined human temporal bone specimens with serous labyrinthitis, suppurative labyrinthitis, and labyrinthitis ossificans, then compared them with age-matched control groups without labyrinthitis. We evaluated the density of type I and II vestibular hair cells, dark cells, and transitional cells in the peripheral sensorial organs...
November 22, 2016: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/27881722/maintenance-of-neuronal-size-gradient-in-mntb-requires-sound-evoked-activit
#19
Jessica H Weatherstone, Conny Kopp-Scheinpflug, Nadia Pilati, Yuan Wang, Ian D Forsythe, Edwin W Rubel, Bruce L Tempel
The medial nucleus of the trapezoid body (MNTB) is an important source of inhibition during the computation of sound location. It transmits fast and precisely timed action potentials at high frequencies; this requires an efficient calcium clearance mechanism, in which the plasma membrane calcium ATPase 2 (PMCA2) is a key component. Deafwaddler (dfw(2J)) mutant mice have a null mutation in PMCA2 causing deafness in homozygotes (dfw(2J)/dfw(2J)) and high frequency hearing loss in heterozygotes (+/dfw(2J)). Despite the deafness phenotype, no significant differences in MNTB volume or cell number were observed in dfw(2J) homozygous mutants, suggesting PMCA2 is not required for MNTB neuron survival...
November 23, 2016: Journal of Neurophysiology
https://www.readbyqxmd.com/read/27880932/lgr6-stem-cells-and-their-progeny-in-mouse-epidermis-under-regimens-of-exogenous-skin-carcinogenesis-and-their-absence-in-ensuing-skin-tumors
#20
Gerline C van de Glind, Heggert G Rebel, Jacoba J Out-Luiting, Wim Zoutman, Cornelis P Tensen, Frank R de Gruijl
Lgr6+ cells have been identified as a novel class of proliferating (Ki67+) stem cells in mouse epidermis. We investigated their response to UV exposure in Lgr6-EGFP-Ires-CreERT2/R26R-LacZ haired and hairless mice and whether they become initiating cells of UV- or chemically induced skin tumors. UV overexposure erased Lgr6+ cells (EGFP+) from the interfollicular epidermis (IFE), but - as after wounding - they apparently repopulated the IFE from the hair follicles. Under sub-sunburn chronic UV exposure, Lgr6+ cells and their progeny (LacZ+ after pulse of tamoxifen) diminished strongly in the IFE...
November 17, 2016: Oncotarget
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