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https://www.readbyqxmd.com/read/27915340/2q33-1q34-deletion-in-a-girl-with-brain-anomalies-and-anorectal-malformation
#1
Luisa Ronzoni, Antonio Novelli, Giulia Brisighelli, Angela Peron, Fabio Triulzi, Vera Bianchi, Ernesto Leva, Maria F Bedeschi
2q33 deletions are considered to constitute a distinct clinical entity (Glass syndrome or 2q33 microdeletion syndrome) with a characteristic phenotype. Most patients have moderate to severe developmental delay, speech delay, a particular behavioural phenotype, feeding problems, growth restriction, a typical facial appearance, thin and sparse hair, tooth abnormalities, and skeletal anomalies. Here, we report on a patient with a 2q33.1q34 deletion spanning 8.3 Mb of genomic DNA. Although her clinical features are very reminiscent of the 2q33 microdeletion syndrome, she also presented with brain and anorectal malformations...
December 3, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27882597/morphological-analyses-in-fragility-of-pili-torti-with-bj%C3%A3-rnstad-syndrome
#2
Yuki Marubashi, Takeshi Yanagishita, Jun Muto, Nobuhiko Taguchi, Kazumitsu Sugiura, Yoshiyuki Kawamoto, Masashi Akiyama, Daisuke Watanabe
Pili torti is an extremely rare hair phenotype characterized by short length of hairs with hair shafts being easily broken. However, the mechanism of fragility in pili torti is unclear. In this study, we examined the underlying morphological features responsible for pili torti formation using transmission electron microscopy (TEM). We used pili torti samples from a patient with Björnstad syndrome and normal hairs from a healthy subject as a comparison. The macroscopic morphological features of the samples agreed with the results of a previous study showing that pili torti is twisted, flattened, thin and with partial trichorrhexis...
November 24, 2016: Journal of Dermatology
https://www.readbyqxmd.com/read/27852030/-a-case-of-pol-iii-related-leukodystrophy-with-homozygous-mutation-in-polr3a
#3
Tomoaki Shima, Takeshi Fujimoto, Teiichiro Miyazaki, Fumiaki Nonaka
We describe a 27-year-old man with mental retardation, symptomatic epilepsy, myopia, and cerebellar ataxia without spontaneous puberty whose brain magnetic resonance imaging showed hypomyelination. He had child-like facial appearance, with thin facial hair. He had no underarm and pubic hairs, and his penis was small. Laboratory tests showed low levels of luteinizing hormone, follicle-stimulating hormone, and testosterone. Brain MRI showed diffuse hypomyelination, atrophy of the cerebellum and brainstem, and hypoplastic corpus callosum...
November 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/27768157/initial-experience-with-low-dose-methotrexate-as-an-adjuvant-treatment-for-rapidly-recurrent-nonvasculitic-laryngotracheal-stenosis
#4
David E Rosow, Jamal Ahmed
Importance: Adult laryngotracheal stenosis (LTS) is typically managed surgically, but some patients fail treatment because of rapid restenosis or granulation tissue formation. The need for frequent surgery or tracheostomy reduces the quality of life in these patients and poses a significant challenge for the treating physician. New adjuvant treatments are required to reduce the surgical burden of this condition. Objective: To examine whether patients with rapidly recurrent nonvasculitic LTS who fail surgical management of their stenosis (ie, requiring dilation more frequently than every 6 months) experience longer intervals between surgical procedures when receiving adjuvant treatment with low-dose methotrexate...
October 20, 2016: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/27766696/clinical-ultrasonographic-and-arthroscopic-characteristics-of-hair-shafts-within-synovial-structures-of-seven-horses
#5
Jessica L Partlow, Meghann Lustgarten, W Rich Redding
To the authors' knowledge, the ultrasonographic appearance of hair shafts within a synovial structure of the horse has not been described previously. The purpose of this descriptive study was to illustrate the clinical, ultrasonographic, and arthroscopic characteristics of confirmed hair shafts within synovial structures of seven horses. A review of medical records of the Farm and Equine Veterinary Medical Center at North Carolina State University College of Veterinary Medicine identified seven horses with clinical signs suspicious for inflammatory or septic synovitis/tenosynovitis that had hair shafts identified within those structures ultrasonographically...
October 20, 2016: Veterinary Radiology & Ultrasound
https://www.readbyqxmd.com/read/27762642/efficacy-and-safety-of-mascara-dyeing-as-an-adjunct-to-alexandrite-and-nd-yag-laser-applications-for-removing-thin-and-white-colored-facial-and-axillary-hair
#6
Pelin Üstüner, Ali Balevi, Mustafa Özdemir
INTRODUCTION: There is no satisfactory and efficient method for long-term removal of white-colored and thin hair. METHODS: We conducted a randomised clinical trial of hirsute patients with excessive white and/or thin hair on the face and/or axilla. In Group I (n: 16), the facial hair on one side of the face was painted with a black eyelash mascara immediately before Nd:YAG laser and the other half was only treated by Nd:YAG. In Group II (n: 20), the axillary hair on one side was painted with the mascara before the Alexandrite laser with the other side being only treated by Alexandrite...
October 20, 2016: Journal of Cosmetic and Laser Therapy: Official Publication of the European Society for Laser Dermatology
https://www.readbyqxmd.com/read/27717174/bioinspired-superhydrophobic-highly-transmissive-films-for-optical-applications
#7
Felix Vüllers, Guillaume Gomard, Jan B Preinfalk, Efthymios Klampaftis, Matthias Worgull, Bryce Richards, Hendrik Hölscher, Maryna N Kavalenka
Inspired by the transparent hair layer on water plants Salvinia and Pistia, superhydrophobic flexible thin films, applicable as transparent coatings for optoelectronic devices, are introduced. Thin polymeric nanofur films are fabricated using a highly scalable hot pulling technique, in which heated sandblasted steel plates are used to create a dense layer of nano- and microhairs surrounding microcavities on a polymer surface. The superhydrophobic nanofur surface exhibits water contact angles of 166 ± 6°, sliding angles below 6°, and is self-cleaning against various contaminants...
September 26, 2016: Small
https://www.readbyqxmd.com/read/27686514/preparation-of-protein-nano-objects-by-assembly-of-polymer-grafted-proteins
#8
Yuuka Fukui, Daiki Sakai, Keiji Fujimoto
We carried out surface-grafting from proteins and their assembling into objects with unique nanostructured materials (nano-objects). To immobilize polymer-initiating sites, amino groups of bovine serum albumin (BSA) were allowed to react with iniferter groups (BSA-i). Then, graft polymerization of N-isopropyl acrylamide (NIPAM) was performed by light-initiated living radical polymerization from immobilized iniferter moieties of BSA-i. The polymer-grafted BSA (BSA-g-PNIPAM) was assembled into nano-objects through the precipitation of PNIPAM graft chains and their sizes and morphologies were tuned by the chain length, the density and the chemical structure of graft polymers in addition to the environmental conditions such as temperature and pH...
September 23, 2016: Colloids and Surfaces. B, Biointerfaces
https://www.readbyqxmd.com/read/27686400/sculpting-the-labyrinth-morphogenesis-of-the-developing-inner-ear
#9
Berta Alsina, Tanya T Whitfield
The vertebrate inner ear is a precision sensory organ, acting as both a microphone to receive sound and an accelerometer to detect gravity and motion. It consists of a series of interlinked, fluid-filled chambers containing patches of sensory epithelia, each with a specialised function. The ear contains many different differentiated cell types with distinct morphologies, from the flask-shaped hair cells found in thickened sensory epithelium, to the thin squamous cells that contribute to non-sensory structures, such as the semicircular canal ducts...
September 26, 2016: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/27685656/generation-of-vdr-knock-out-mice-via-zygote-injection-of-crispr-cas9-system
#10
Tao Zhang, Yajun Yin, Huan Liu, Weili Du, Chonghua Ren, Ling Wang, Hongzhao Lu, Zhiying Zhang
CRISPR/Cas9 system has become a new versatile technology for genome engineering in various species. To achieve targeted modifications at the same site in both human and mice genomes by a CRISPR/Cas9 nuclease, we designed two target sites in conserved regions of vitamin D receptor (VDR) gene, which cover more than 17 kb of chromosome region depending on the species. We first validated the efficacy of single sgRNA mediated gene specific modifications were 36% and 31% in HEK293T cells. Concurrently, targeted of the intervening genomic segments deletions were generated in chromosomes when two sgRNAs worked simultaneously...
2016: PloS One
https://www.readbyqxmd.com/read/27670610/skin-specific-deletion-of-mis18%C3%AE-impedes-proliferation-and-stratification-of-epidermal-keratinocytes
#11
Koog Chan Park, Minkyoung Lee, Yoon Jeon, Raok Jeon, Sung Hee Baek, Ho Lee, Keun Il Kim
The Mis18 proteins (Mis18α, Mis18β and M18BP1) are pivotal to the deposition of CENP-A at the centromere during cell cycle progression and are indispensable for embryonic development. Here, we show that Mis18α is critical for the proliferation of keratinocytes and stratification of the epidermis. Mice lacking Mis18α in the epidermis died shortly after birth, showing skin abnormalities like thin and translucent skin as well as defective skin barrier functions. The epidermis of newborn Mis18α-deficient mice lacked distinct stratification and mature hair follicles, with a reduction in the number of proliferating cells and increased cell death in the basal layer...
September 23, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27663925/acupuncture-as-a-complementary-method-of-traditional-psoriasis-treatment-myth-or-reality
#12
Darija Mahović, Fanika Mrsić
Dear Editor, the practitioners of traditional Chinese medicine described psoriasis some 2000 years ago (1). Psoriasis vulgaris is a common, chronic inflammatory skin disease whose worldwide prevalence ranges from 0.1-3% (2,3). Understanding the role of the immune system in psoriasis and the interplay between the innate and adaptive immune system has helped to manage this complex disease, which affects patients far beyond the skin changes themselves (2). In addition to the usual and widely accepted methods of treatment of psoriasis, including topical therapies, phototherapy, and conventional and biological systemic therapies, data can be found in the literature that suggest a favorable effect of acupuncture on the course of psoriasis (4,5)...
August 2016: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/27638387/lymphoepithelial-cyst-with-sebaceous-glands-of-the-pancreas-a-case-report
#13
Hiromitsu Maehira, Hisanori Shiomi, Koichiro Murakami, Hiroya Akabori, Shigeyuki Naka, Mitsuaki Ishida, Masaji Tani
BACKGROUND: Lymphoepithelial cyst (LEC) of the pancreas is a rare benign tumor. LEC with sebaceous glands of the pancreas is extremely rare, and its histogenesis remains unclear. CASE PRESENTATION: We present a 66-year-old man with an incidental finding of a cystic lesion at the neck of the pancreas. Pancreatic juice cytology results and elevated serum carbohydrate antigen 19-9 and Dupan-2 levels indicated that the cyst was a potential adenocarcinoma. Therefore, a pancreaticoduodenectomy was performed...
December 2016: Surgical Case Reports
https://www.readbyqxmd.com/read/27622478/necrolytic-migratory-erythema-and-pancreatic-glucagonoma
#14
Gerzaín Rodríguez, Elga Vargas, Claudia Abaúnza, Sergio Cáceres
Necrolytic migratory erythema is a rare paraneoplastic dermatosis that may be the first clinical manifestation of the glucagonoma syndrome, a disorder characterized by mucocutaneous rash, glucose intolerance, hypoaminoacidemia, hyperglucagonaemia and pancreatic glucagonoma. The clinical case of a 45-year-old woman is presented. She had been experiencing weight loss, polydipsia, polyphagia, postprandial emesis, excessive hair loss and abdominal pain for two months. Erythematous, scaly and migratory plaques with 20 days of evolution were found on her trunk, perineum, elbows, hands, feet, inframammary and antecubital folds...
2016: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/27617515/hormones-and-clocks-do-they-disrupt-the-locks-fluctuating-estrogen-levels-during-menopausal-transition-may-influence-clock-genes-and-trigger-chronic-telogen-effluvium
#15
Paradi Mirmirani
Chronic telogen effluvium describes the clinical condition noted mostly in middle-aged women of increased, diffuse scalp hair shedding that is prolonged and often presents with a fluctuating course that may continue for years but does not lead to visible hair thinning. Despite its description almost 20 years ago, the underlying pathologic cause of CTE is yet to be identified. However the culmination of research in the field of hair biology and the burgeoning field of chronobiology may lead to exciting breakthroughs in our understanding of CTE...
2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/27602401/langer-giedion-syndrome-a-rare-case-report
#16
Farhin Ali Katge, Bhavesh Dahyabhai Rusawat, Pooja Ravindra Shivasharan, Devendra Pandurang Patil
Langer-Giedion syndrome is a very uncommon autosomal dominant genetic disorder caused by the deletion of chromosomal material. It is characterized by multiple bony exostosis, short stature, mental retardation, and typical facial features. The characteristic appearance of individuals includes sparse scalp hair, rounded nose, prominent philtral area and thin upper lip. Some cases with this condition have loose skin in childhood which typically resolves with age. Oral and dental manifestations include micrognathia, retrognathia, hypodontia, and malocclusion based on cephalometric analysis...
September 2016: Journal of Dentistry
https://www.readbyqxmd.com/read/27588159/worldwide-cutaneous-malignant-melanoma-incidences-analyzed-by-sex-age-and-skin-type-over-time-1955-2007-is-hpv-infection-of-androgenic-hair-follicular-melanocytes-a-risk-factor-for-developing-melanoma-exclusively-in-people-of-european-ancestry
#17
Stephen J Merrill, Madhan Subramanian, Dianne E Godar
The cutaneous malignant melanoma (CMM) incidence has been increasing in an exponential manner in certain populations around the world for over 7 decades. To help illuminate the etiology, we performed worldwide temporal (1955-2007) CMM incidence analysis by sex, age (0-14, 15-29, 30-49, 50-69, 70-85+), and skin type on 6 continents using data from the International Agency for Research on Cancer. We observe an exponential increase in the CMM incidence over time and an increase of about 2 orders of magnitude between age groups 0-14 and 15-29 exclusively in European-ancestry populations around the world independent of skin type (I-III or III-IV)...
January 2016: Dermato-endocrinology
https://www.readbyqxmd.com/read/27562818/cuo-nanoparticles-inhibited-root-growth-from-brassica-nigra-seedlings-but-induced-root-from-stem-and-leaf-explants
#18
Hira Zafar, Attarad Ali, Muhammad Zia
Interests associated with nanoparticles (NPs) are budding due to their toxicity to living species. The lethal effect of NPs depends on their nature, size, shape, and concentration. Present investigation reports that CuO NPs badly affected Brassica nigra seed germination and seedling growth parameters. However, variation in antioxidative activities and nonenzymatic oxidants is observed in plantlets. Culturing the leaf and stem explants on MS medium in presence of low concentration of CuO NPs (1-20 mg l(-1)) produces white thin roots with thick root hairs...
August 25, 2016: Applied Biochemistry and Biotechnology
https://www.readbyqxmd.com/read/27549867/superiority-of-dutasteride-over-finasteride-in-hair-regrowth-and-reversal-of-miniaturization-in-men-with-androgenetic-alopecia-a-randomized-controlled-open-label-evaluator-blinded-study
#19
Sujit J S Shanshanwal, Rachita S Dhurat
BACKGROUND: Finasteride and dutasteride are inhibitors of the enzyme 5-alpha-reductase which inhibits the conversion of testosterone to dihydrotestosterone. Dutasteride inhibits both type I and type II 5-alpha-reductase while finasteride inhibits only the type II enzyme. As both isoenzymes are present in hair follicles, it is likely that dutasteride is more effective than finasteride. AIMS: To compare the efficacy, safety and tolerability of dutasteride and finasteride in men with androgenetic alopecia...
August 22, 2016: Indian Journal of Dermatology, Venereology and Leprology
https://www.readbyqxmd.com/read/27533123/effects-of-hair-sprays-on-color-perception-a-hyperspectral-imaging-approach-to-shine-and-chroma-on-heads
#20
Germain Puccetti, William Thompson
OBJECTIVES: Hair sprays apply fixative ingredients to provide hold to a hair style as well as weather resistance and optical properties such as shine. Generally, sprays distribute fine particles containing polymeric ingredients to form a thin film on the surface of hair. Different hair types require different strengths of the formed deposit on the hair surface. The present study shows how sprays also alter the visibility of the hair color by altering the surface topology of the hair fibers...
August 17, 2016: International Journal of Cosmetic Science
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