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https://www.readbyqxmd.com/read/28440577/variable-developmental-delays-and-characteristic-facial-features-a-novel-7p22-3p22-2-microdeletion-syndrome
#1
Andrea C Yu, Regina M Zambrano, Ingrid Cristian, Sue Price, Birgitta Bernhard, Marc Zucker, Sunita Venkateswaran, Jean McGowan-Jordan, Christine M Armour
Isolated 7p22.3p22.2 deletions are rarely described with only two reports in the literature. Most other reported cases either involve a much larger region of the 7p arm or have an additional copy number variation. Here, we report five patients with overlapping microdeletions at 7p22.3p22.2. The patients presented with variable developmental delays, exhibiting relative weaknesses in expressive language skills and relative strengths in gross, and fine motor skills. The most consistent facial features seen in these patients included a broad nasal root, a prominent forehead a prominent glabella and arched eyebrows...
April 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28436024/hair-diameter-evaluation-in-different-regions-of-the-safe-donor-area-in-asian-populations
#2
Jae H Park, Jae M Park, Na R Kim, Kotchamol Manonukul
BACKGROUND: There is little information about how hair diameter differences within the safe donor area. Thicker or thinner hair may be needed depending on the recipient area, hairline design, and surgical purpose. METHODS: Thirty-eight non-alopecic subjects (19 males and 19 females) were evaluated. The safe donor area was defined as the area contained within 28 cm from the horizontal plane of the upper border of the hair rim to the vertical line of the bilateral external acoustic meatus...
April 24, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28432762/microvascular-replantation-of-head-and-neck-amputated-parts-a-systematic-review
#3
REVIEW
Johnny I Efanov, Ixchel J Montoya, Ke N Huang, Charles Guertin, Patrick G Harris, Joseph Bou-Merhi, Alain M Danino
BACKGROUND: As opposed to upper and lower extremity amputations representing a considerable volume of admissions, the prowess of microsurgeons is seldom solicited in complex cases of head and neck replantation. Our aim was to determine the rate of successful replantation of craniofacial parts in a systematic review of the literature. METHODS: We performed a systematic review of English literature using PubMed/MEDLINE for every replantation of a head and neck parts...
April 22, 2017: Microsurgery
https://www.readbyqxmd.com/read/28426907/frontal-fibrosing-alopecia-clinical-and-prognostic-classification
#4
O M Moreno-Arrones, D Saceda-Corralo, P Fonda-Pascual, A R Rodrigues-Barata, D Buendía-Castaño, A Alegre-Sánchez, C Pindado-Ortega, M Molins, D Perosanz, G Segurado-Miravalles, P Jaén, S Vañó-Galván
BACKGROUND: Frontal fibrosing alopecia (FFA) is a chronic scarring alopecia with an unpredictable evolution. There are no current classifications of this disease that may predict its prognosis. OBJECTIVE: To analyze the differences in clinical presentation and evolution of FFA patients and to create a clinical and prognostic classification METHODS: We conducted a retrospective analytical study of FFA patients. Clinical characteristics of frontal hairline recession were used as the sorting variable between patterns of presentation...
April 20, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28388800/rhinoplasty-results-are-influenced-by-non-nasal-features
#5
Frederick Wang, Ginger Xu, Ronald Peter Gruber
Rhinoplasty results are evaluated both objectively and subjectively following any procedure by plastic surgeons and nonplastic surgeons at meetings, in publications, and online. We aim to evaluate whether subjective aesthetics of non-nasal features, such as the eyes and lips, would influence the overall evaluation of rhinoplasty results. We matched pairs of photographs of patients who had undergone aesthetic rhinoplasty by sex, age, and skin tone. We transferred the eyes/eyebrows and lips from the photographs of the donor patient onto the photographs of the original patient to create composite photographs...
April 2017: Facial Plastic Surgery: FPS
https://www.readbyqxmd.com/read/28386838/minimally-invasive-medial-supraorbital-combined-subfrontal-interhemispheric-approach-to-the-anterior-communicating-artery-complex-a-cadaveric-study
#6
Alexander Spiessberger, F Baumann, E Nevzati, K F Kothbauer, J Fandino, C Muroi
INTRODUCTION: In selected cases, microsurgical clipping remains a valuable treatment alternative to endovascular occlusion of anterior communicating artery (AComA) aneurysms. Their clipping is challenging and carries a risk of postsurgical cognitive impairment. We evaluate the microsurgical anatomy of a new, minimally invasive combined interhemispheric-subfrontal approach to the AComA complex via a medial supraorbital craniotomy. METHODS: In this descriptive anatomic study, four alcohol-embedded, silicon-injected human cadaver heads were used...
April 7, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28370475/verrucous-eyebrows-a-cutaneous-manifestation-of-a-systemic-disease
#7
Tiffany Hinojosa, Daniel J Lewis, Kevin G Sharghi, Elmira Ramos, Ronald P Rapini, Stephen K Tyring
Sarcoidosis is an inflammatory disease that can involve numerous organ systems, with the skin being the second most commonly affected.(1) The histopathological hallmark of sarcoidosis is the presence of non-caseating epithelioid-cell granulomas, but its numerous clinical manifestations can resemble those of other skin diseases.(2,3) We report the unique presentation of a woman who developed verrucous sarcoidal lesions around the eyebrows bilaterally at the site of cosmetic eyebrow tattoos, ultimately leading to a diagnosis of otherwise asymptomatic systemic sarcoidosis...
March 29, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28369020/volumization-of-the-brow-at-the-time-of-blepharoplasty-treating-the-eyebrow-fat-pad-as-an-independent-unit
#8
Ivan Vrcek, Eva Chou, Marie Somogyi, John W Shore
PURPOSE: Loss of volume in the sub-brow fat pad with associated descent of the eyebrow is a common anatomical finding resulting in both functional and aesthetic consequences. A variety of techniques have been described to address brow position at the time of blepharoplasty. To our knowledge, none of these techniques treat the sub-brow fat pad as an isolated unit. Doing so enables the surgeon to stabilize and volumize the brow without resultant tension on the blepharoplasty wound. The authors describe a technique for addressing volume loss in the eyebrow with associated brow descent that treats the sub-brow fat pad as an isolated unit...
March 31, 2017: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28342387/isolation-and-characterization-of-a-novel-putative-human-polyomavirus
#9
Tarik Gheit, Sankhadeep Dutta, Javier Oliver, Alexis Robitaille, Shalaka Hampras, Jean-Damien Combes, Sandrine McKay-Chopin, Florence Le Calvez-Kelm, Neil Fenske, Basil Cherpelis, Anna R Giuliano, Silvia Franceschi, James McKay, Dana E Rollison, Massimo Tommasino
The small double-stranded DNA polyomaviruses (PyVs) form a family of 73 species, whose natural hosts are primarily mammals and birds. So far, 13 PyVs have been isolated in humans, and some of them have clearly been associated with several diseases, including cancer. In this study, we describe the isolation of a novel PyV in human skin using a sensitive degenerate PCR protocol combined with next-generation sequencing. The new virus, named Lyon IARC PyV (LIPyV), has a circular genome of 5269 nucleotides. Phylogenetic analyses showed that LIPyV is related to the raccoon PyV identified in neuroglial tumours in free-ranging raccoons...
June 2017: Virology
https://www.readbyqxmd.com/read/28337609/trans-eyebrow-supraorbital-approach-in-large-suprasellar-craniopharyngioma-surgery-in-adults-analysis-of-optic-nerve-length-and-extent-of-tumor-resection-original-article
#10
Ricardo Prat, Inma Galeano, Rocío Evangelista, Giovanni Pancucci, Juliana Guarín, Angel Ayuso, Mukesh Misra
BACKGROUND: One of the main drawbacks in the surgery of large craniopharyngiomas is the presence of a prefixed optic chiasm. Our main objective in this study is to compare the predictive value of the optic nerve length and optic chiasm location on large craniopharyngiomas' extent of resection. METHOD: We retrospectively studied 21 consecutive patients with large craniopharyngiomas who underwent tumor resection through the trans-eyebrow supraorbital approach. Clinical and radiological findings on preoperative MRI were recorded, including the optic chiasm location classified as prefixed, postfixed or normal...
May 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28337534/intermediate-osteotomies-in-rhinoplasty-a-new-perspective
#11
Diogo Pereira Nunes, Catarina Tinoco, Diogo Oliveira E Carmo, João Paço
The nasal dorsum framework plays a major role in nasal and facial harmony. This study presents a new approach to an already known technique, intermediate osteotomies, which can be used routinely in patients with cosmetically unpleasant changes in eyebrow-tip line features, allowing the acquisition of a natural, aesthetically agreeable and harmonious dorsum contour, while preserving nasal function. The approach was evaluated retrospectively in 50 consecutive patients at a tertiary referral hospital. Patients were asked to complete a survey to rate their satisfaction with the cosmetic outcome on a 5-point visual analog scale (VAS) and to compare the impact of nasal obstruction on their quality of life, pre- and postoperatively, by completing the validated Nasal Obstruction Symptom Evaluation (NOSE) scale...
March 23, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28333315/transcutaneous-brow-shaping-a-straightforward-and-precise-method-to-lift-and-shape-the-eyebrows
#12
Mario Pelle-Ceravolo, Matteo Angelini
Background: The height of the eyebrow is less crucial aesthetically than is the relationship between the lateral and medial portions of the brow. Although various surgical procedures are effective in raising the brow, the authors maintain that transcutaneous brow shaping (TBS) is the only technique that enables precise shaping of the brow and correction of minor asymmetries. Objectives: The authors described their experiences with direct TBS alone or in conjunction with blepharoplasty and facelift...
March 16, 2017: Aesthetic Surgery Journal
https://www.readbyqxmd.com/read/28329670/telomere-length-cutaneous-beta-human-papillomavirus-infection-and-cutaneous-squamous-cell-carcinoma
#13
Shalaka Hampras, Michael Pawlita, Massimo Tommasino, Jong Park, Pearlie Burnette, Neil Fenske, Basil Cherpelis, Dana Rollison
BackgroundCutaneous beta-human papillomavirus (HPV) infection and telomere length have both been associated with cutaneous squamous cell carcinoma (SCC). We examined the interaction between telomere length and beta-HPV in association with SCC.MethodsA subset of SCC cases and controls, enrolled in a previously conducted case-control study (2007-2008) at the University of South Florida and Moffitt Cancer Center, for whom data was available on telomere length and a) beta-HPV serology (135 cases and 201 controls), b) beta-HPV DNA in eyebrow hairs (EB) (130 SCC cases and 195 controls) and c) beta-HPV DNA in SCC tumors (117 cases), were included in the present analyses...
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329649/human-papillomavirus-infection-and-squamous-cell-carcinoma-in-organ-transplant-recipients
#14
Jan Nico Bouwes Bavinck
Organ transplant recipients (OTR) have an increased risk of developing squamous cell carcinomas (SCC). SCC are usually associated with multiple warts and premalignant keratoses. This cohort study investigated the predictive effect of infection with beta papillomaviruses (betaPV) with the later development of cutaneous SCC.In an earlier prospective and case-control study, eyebrow hairs and sera of 743 OTR transplanted before 2003 were collected. BetaPV DNA was determined in eyebrow hairs and betaPV antibodies in sera...
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329549/frontal-fibrosing-alopecia-in-a-46-year-old-man
#15
Forrest White, Shields Callahan, Randie H Kim, Shane A Meehan, Jennifer Stein
Frontal fibrosing alopecia is a scarring alopecia thatis characterized by recession of the frontotemporalhairline with the frequent loss of eyebrows. Itpredominantly affects postmenopausal womenand only rarely affects men. We report the caseof a 46-year-old man with a ten-year history of anerythematous patch with perifollicular erythemaat the superior aspect of the forehead andfrontotemporal hairline. A skin biopsy specimenshowed a perivascular, lymphocytic infiltrate withperiinfundibular fibrosis. These findings establisheda diagnosis of frontal fibrosing alopecia...
December 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28327570/puf60-variants-cause-a-syndrome-of-id-short-stature-microcephaly-coloboma-craniofacial-cardiac-renal-and-spinal-features
#16
Karen J Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David R FitzPatrick, Mark Greenslade, Alex Henderson, Jane Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja K Selmer, Michael C Schneider, Fiona Stewart, Katrina Tatton-Brown, Julien Thevenon, Magnus D Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D D D Study, Sarah F Smithson
PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome. We report 12 additional patients with PUF60 variants who were ascertained using exome sequencing: six through the Deciphering Developmental Disorders Study and six through similar projects...
May 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28318922/surgical-rehabilitation-for-anophthalmic-sockets-devoid-of-orbital-implant
#17
Doo-Ri Eo, Yoon-Duck Kim, Kyung In Woo
PURPOSE: To determine the necessity of rehabilitative surgical procedures for no implant anophthalmic sockets, and predictive factors of corrective operations after secondary orbital implantation. MATERIAL AND METHODS: Nineteen unilateral anophthalmic patients without orbital implant were included. The distance of eyebrow, upper eyelid margin, and lower eyelid margin from the horizontal medial canthal line (BM, UM, and LM, respectively) was measured using photographs...
February 13, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28280893/aesthetic-eyebrow-reconstruction-with-an-expanded-scalp-island-flap-pedicled-by-the-superficial-temporal-artery
#18
Xing Yuan Pang, Jun Ren, Wei Xu, Rui Wan, Wei Yuan, Ying Shu
PURPOSE: This case study demonstrates a new operative method of eyebrow reconstruction, in which the hair density of the reconstructed eyebrow is controlled by the surgeon and is more similar to that of the uninjured side, resulting in a more natural facial expression and greater aesthetic value for our patients. MATERIALS AND METHODS: The operation was divided into two stages: Stage 1: Implantation of a soft tissue expander into the corresponding subgaleal position of the parietal branch of the superficial temporal artery on the injured side, followed by dilation of the expander until the density of the hair on the expanded scalp reached a suitable value and was lower than that of the uninjured eyebrow...
March 9, 2017: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/28272152/aesthetic-reconstruction-of-the-frontotemporal-region-the-extended-a-t-plasty-a-workhorse-revisited
#19
Beniamino Brunetti, Stefania Tenna, Igor Poccia, Francesco Segreto, Paolo Persichetti
BACKGROUND: A-T plasty has long been a workhorse for defects located around the eyebrow or in the upper and lower lip. It allows like-with-like reconstruction with placement of the scars in natural creases or subunit junctions. In this article, the authors describe their refined technique to specifically address moderate to large size defects of the frontotemporal, preauricular, and zygomatic regions. MATERIALS AND METHODS: Thirty consecutive patients underwent reconstruction with the extended A-T plasty at our institution after skin cancer excision...
March 7, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28272073/looking-beyond-the-cosmetic-tattoo-lesion-near-the-eyebrow-screening-the-lungs
#20
F Fatemi Naeini, M Pourazizi, B Abtahi-Naeini, A Saffaei, F Bagheri
Cosmetic tattooing has become a risk factor for several adverse reactions related to inks, procedures, and associated clinical conditions. Development of a sarcoid reaction to the inserted tattoo pigment in the skin is not common. We report a 45 year-old patient with history of dyspnea and mild cough since two years who had subsequently developed reddish, scaly lesions in her 15-year old tattoo done near her right eyebrow. Skin biopsy of the tattoo lesion revealed cutaneous sarcoidosis which led to further investigations and a diagnosis of pulmonary sarcoidosis...
March 3, 2017: Journal of Postgraduate Medicine
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