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Yu Sun, Guorui Hu, Huili Liu, Xia Zhang, Zhuo Huang, Hui Yan, Lili Wang, Yanjie Fan, Xuefan Gu, Yongguo Yu
KMT2A mutations cause Wiedemann-Steiner syndrome (WDSTS), which is characterized by hypertrichosis cubiti, short stature, and distinct facial features in general. Here, we report two Chinese boys with novel nonsense KMT2A mutations. Most of their phenotypes are concordant with WDSTS. They, however, lack the key WDSTS feature-hypertrichosis cubiti. Additionally, their transverse palmar creases are absent. We further summarized the genotypes and phenotypes of the KMT2A mutation carriers. The consensus phenotypes include postnatal growth retardation, developmental delay, short stature, and intellectual disability...
October 19, 2016: American Journal of Medical Genetics. Part A
Keiko Shimojima, Yumiko Ondo, Mayumi Matsufuji, Nozomi Sano, Hisashi Tsuru, Tatsuki Oyoshi, Nayuta Higa, Hiroshi Tokimura, Kazunori Arita, Toshiyuki Yamamoto
A female patient presented with developmental delay, distinctive facial features, and congenital anomalies, including a heart defect and premature lambdoid synostosis. The patient showed a paternally inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving the mitogen-activated protein kinase kinase 2 gene (MAP2K2), in which mutations cause the cardio-facio-cutaneous (CFC) syndrome. Reports of patients with overlapping 19p13.3 microdeletions of this region describe similar clinical manifestations including distinctive facial features: prominent forehead, horizontal/down-slanting palpebral fissures, long midface, pointed chin/angular jaw, sparse eyebrows, and underdeveloped cheekbones...
October 14, 2016: European Journal of Medical Genetics
Anaïs L Carniciu, Jonathan Chou, Ilya Leskov, Suzanne K Freitag
PURPOSE: This study retrospectively reviews preseptal cellulitis and abscesses involving the eyebrow to elucidate the bacteriology and potential causative factors. METHODS: A retrospective chart review was conducted to identify patients who had been diagnosed with preseptal cellulitis or abscess involving the eyebrow at the Massachusetts Eye and Ear Infirmary between 2008 and 2015. Demographic, clinical, and microbiological data were collected. RESULTS: Eighty patients with eyebrow infections were identified, of whom 49 (61...
October 5, 2016: Ophthalmic Plastic and Reconstructive Surgery
Antonio Carlos Abramo, Thiago Paoliello Alves Do Amaral, Bruno Pierotti Lessio, Germano Andrighetto De Lima
BACKGROUND: The purpose of this study is to establish a relationship between the skin lines on the upper third of the face in cadavers, which represent the muscle activity in life and the skin lines achieved by voluntary contraction of the forehead, glabellar, and orbital muscles in patients. METHODS: Anatomical dissection of fresh cadavers was performed in 20 fresh cadavers, 11 females and 9 males, with ages ranging from 53 to 77 years. Subcutaneous dissection identified the muscle shape and the continuity of the fibers of the eyebrow elevator and depress muscles...
October 14, 2016: Aesthetic Plastic Surgery
Sara Hintze, Samantha Smith, Antonia Patt, Iris Bachmann, Hanno Würbel
Finding valid indicators of emotional states is one of the biggest challenges in animal welfare science. Here, we investigated in horses whether variation in the expression of eye wrinkles caused by contraction of the inner eyebrow raiser reflects emotional valence. By confronting horses with positive and negative conditions, we aimed to induce positive and negative emotional states, hypothesising that positive emotions would reduce whereas negative emotions would increase eye wrinkle expression. Sixteen horses were individually exposed in a balanced order to two positive (grooming, food anticipation) and two negative conditions (food competition, waving a plastic bag)...
2016: PloS One
Yoshiaki Shimada, Masayuki Horiguchi
We report a case of a 38-year-old man who presented with a recently self-detected lump under his left eyebrow. Previous ophthalmological history was unremarkable except for unilateral high myopia (left eye) since childhood. The appearance of the left eye was seemingly normal; however, with the top lid pulled up on downward gaze, a dark brown bulge emerged. The bulge was 10 × 7 mm and approximately 4 mm in height, and was covered by the extended superior rectus muscle. The diagnosis of equatorial staphyloma was made after coronal T1-weighted magnetic resonance imaging of the orbit revealed the dilatation of the vitreous cavity...
May 2016: Case Reports in Ophthalmology
Elisa Adele Colombo, Luigina Spaccini, Ludovica Volpi, Gloria Negri, Davide Cittaro, Dejan Lazarevic, Salvatore Zirpoli, Andrea Farolfi, Cristina Gervasini, Maria Vittoria Cubellis, Lidia Larizza
BACKGROUND: Integrin α3 (ITGA3) gene mutations are associated with Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa (ILNEB syndrome). To date only six patients are reported: all carried homozygous ITGA3 mutations and presented a dramatically severe phenotype leading to death before age 2 years, from multi-organ failure due to interstitial lung disease and congenital nephrotic syndrome. The involvement of skin and cutaneous adnexa was variable with sparse hair and nail dysplasia combined or not to skin lesions ranging from skin fragility to epidermolysis bullosa-like blistering...
October 7, 2016: Orphanet Journal of Rare Diseases
Pavel Lobachevsky, Trevor Leong, Patricia Daly, Jai Smith, Nickala Best, Ella R Thompson, Na Li, Ian G Campbell, Roger F Martin, Olga A Martin
A small percentage of cancer radiotherapy patients develop abnormally severe side effects as a consequence of intrinsic radiosensitivity. We analysed the γ-H2AX response to ex-vivo irradiation of peripheral blood lymphocytes (PBL) and plucked eyebrow hair follicles from 16 patients who developed severe late radiation toxicity following radiotherapy, and 12 matched control patients. Longer retention of the γ-H2AX signal and lower colocalization efficiency of repair factors in over-responding patients confirmed that DNA repair in these individuals was compromised...
September 28, 2016: Cancer Letters
Vandana Shashi, Loren D M Pena, Katherine Kim, Barbara Burton, Maja Hempel, Kelly Schoch, Magdalena Walkiewicz, Heather M McLaughlin, Megan Cho, Nicholas Stong, Scott E Hickey, Christine M Shuss, Michael S Freemark, Jane S Bellet, Martha Ann Keels, Melanie J Bonner, Maysantoine El-Dairi, Megan Butler, Peter G Kranz, Constance T R M Stumpel, Sylvia Klinkenberg, Karin Oberndorff, Malik Alawi, Rene Santer, Slavé Petrovski, Outi Kuismin, Satu Korpi-Heikkilä, Olli Pietilainen, Palotie Aarno, Mitja I Kurki, Alexander Hoischen, Anna C Need, David B Goldstein, Fanny Kortüm
The ASXL genes (ASXL1, ASXL2, and ASXL3) participate in body patterning during embryogenesis and encode proteins involved in epigenetic regulation and assembly of transcription factors to specific genomic loci. Germline de novo truncating variants in ASXL1 and ASXL3 have been respectively implicated in causing Bohring-Opitz and Bainbridge-Ropers syndromes, which result in overlapping features of severe intellectual disability and dysmorphic features. ASXL2 has not yet been associated with a human Mendelian disorder...
October 6, 2016: American Journal of Human Genetics
Stéphane Bruneau, Jean-Marc Foletti
No abstract text is available yet for this article.
October 2016: Plastic and Reconstructive Surgery
Sara Nader Marta, Roberto Yoshio Kawakami, Claudia Almeida Prado Piccino Sgavioli, Ana Eliza Correa, Guaniara D'Árk de Oliveira El Kadre, Ricardo Sandri Carvalho
Waardenburg syndrome (WS) is an inherited autosomal dominant genetic disorder presenting variable penetrance and expressivity, with an estimated prevalence of 1:42,000. Clinical characteristics of WS include lateral displacement of the internal eye canthus, hyperplasia of the medial portion of the eyebrows, prominent and broad nasal base, congenital deafness, pigmentation of the iris and skin, and white forelock. A 24-year-old male patient, previously diagnosed with WS, was referred to the Special Needs Dental Clinic of Sacred Heart University, Bauru, Brazil...
2016: Journal of Contemporary Dental Practice
Sudesh Deshpande, Deepak Dhote, Kalpna Thakur, Amol Pawar, Rajesh Kumar, Munish Kumar, M S Kulkarni, S D Sharma, V Kannan
The objective of this work was to measure patient eye lens dose for different cone-beam computed tomography (CBCT) acquisition protocols of Varian's On-Board Imaging (OBI) system using optically stimulated luminescence dosimeter (OSLD) and to study the variation in eye lens dose with patient geometry and distance of isocenter to the eye lens. During the experimental measurements, OSLD was placed on the patient between the eyebrows of both eyes in line of nose during CBCT image acquisition to measure eye lens doses...
July 2016: Journal of Medical Physics
Yong Miao, Zhe-Xiang Fan, Zhi-Qi Hu, Jin-Dou Jiang
No abstract text is available yet for this article.
September 9, 2016: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
Tanya Greywal, Philip R Cohen
BackgroundCutaneous reactions to tattoos are most commonly granulomatous or lichenoid.PurposeWe describe a woman who developed a lymphocytic reaction following a cosmetic tattoo procedure with black dye. The reaction occurred not only at the site of the tattoos (eyebrows and eyelash lines), but also in non-tattooed skin (bilateral malar cheeks).Methods and MaterialsWe reviewed PubMed for the following terms: cosmetic, dye, granuloma, granulomatous, lichenoid, lymphocytic, perivascular, pigment, pseudolymphoma, reaction, and tattoo...
2016: Dermatology Online Journal
Györgyi Pónyai, Brigitte Mária Diczig, Ilona Németh, Erzsébet Temesvári
BACKGROUND: para-Phenylenediamine (PPD) is a potent allergen with frequent exposure through use of hair dyes or henna tattoos. OBJECTIVES: We wished to determine if prevalence of PPD sensitivity is changing through time as trends in its use change. PATIENTS: A total of 3631 patients were patch tested consecutively with the environmental standard series between 2007 and 2014 to map the prevalence of PPD sensitivity and its distribution according to age, sex, and diagnosis...
September 2016: Dermatitis
Verena Blaas, Johannes Manhart, Andreas Büttner
Self-inflicted injuries and their differentiation from inflicted injuries may have severe legal implications. The detection of these injuries is an important task in clinical forensic medicine. We present two cases of skin discolorations caused by using make-up and suction of the skin which have only rarely been reported. In the first case a 19-year-old woman asserted she was punched against her left clavicle and her right eye by a perpetrator, and that during the following forced sexual intercourse she had been bitten on the neck...
August 27, 2016: Forensic Science, Medicine, and Pathology
Thorsten Schwark, Nicole von Wurmb-Schwark
We present a rare case of a non-fatal impalement injury of the brain. A 13-year-old boy was found in his classroom unconsciously lying on floor. His classmates reported that they had been playing, and throwing building bricks, when suddenly the boy collapsed. The emergency physician did not find significant injuries. Upon admission to a hospital, CT imaging revealed a "blood path" through the brain. After clinical forensic examination, an impalement injury was diagnosed, with the entry wound just below the left eyebrow...
September 2016: Forensic Science International
G Wagner, V Meyer, M M Sachse
Within the group of cicatricial alopecias, Kossard first described frontal fibrosing alopecia (FFA) in 1994 as a variant of lichen planopilaris (LPP). This classification is based on the histopathological findings of FFA and LPP, which are identical and therefore not separable. The clinical picture of FFA, however, is very characteristic and marked by regionally distinct structures of the skin. Typically, postmenopausal women present with a band-shaped atrophy that is several centimeters wide located in the frontotemporal area...
August 18, 2016: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
Katrin Õunap, Sander Pajusalu, Olga Zilina, Tiia Reimand, Riina Žordania
3q26.33-3q27.2 microdeletion can be classified as a clinical entity characterized by intrauterine growth retardation, feeding problems in infancy, short stature, intellectual disability, hypotonia, dysmorphic facial features (medially sparse eyebrows, narrow horizontal palpebral fissures, epicanthal folds, flat nasal bridge and tip, short philtrum, and downturned corners of mouth), and teeth and feet abnormalities.
August 2016: Clinical Case Reports
Hans Wolff, Tobias W Fischer, Ulrike Blume-Peytavi
BACKGROUND: Hair loss is caused by a variety of hair growth disorders, each with its own pathogenetic mechanism. METHODS: This review is based on pertinent articles retrieved by a selective search in PubMed, on the current German and European guidelines, and on the authors' clinical and scientific experience. RESULTS: Excessive daily hair loss (effluvium) may be physiological, as in the postpartum state, or pathological, due for example to thyroid disturbances, drug effects, iron deficiency, or syphilis...
May 27, 2016: Deutsches Ärzteblatt International
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