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https://www.readbyqxmd.com/read/29149870/first-case-report-of-cohen-syndrome-in-the-tunisian-population-caused-by-vps13b-mutations
#1
Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa
BACKGROUND: Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS13B (vacuolar protein sorting 13, yeast, homologue of B) gene is the only gene responsible for Cohen Syndrome, causative mutations include nonsense, missense, indel and splice-site variants...
November 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29132461/-clinical-features-of-rubinstein-taybi-syndrome-and-novel-mutation-in-the-crebbp-gene-an-analysis-of-one-case
#2
Yuan Li, Shan He, Hong-Ling Zhu
The patient was a girl aged 3 years and 8 months with normal body length and body weight at birth. The girl had feeding difficulty after birth. Her height, body weight, and head circumference were below the 3rd percentile. She had intellectual disability and an unusual facies manifesting as arched shaggy eyebrows, down-slanting palpebral fissures, and broad nasal bridge, but had no a beaked nose, broad thumbs, or big toes. These clinical manifestations were basically consistent with Rubinstein-Taybi syndrome (RSTS)...
November 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29118527/unusual-pattern-of-whitening-of-eyebrows-following-sunitinib-therapy-a-case-report-with-brief-review-of-literature
#3
Chaturbhuj R Agrawal, Vineet Talwar, Venkata Pradeep Babu, Parveen Jain, Pankaj Goyal
Sunitinib is a vascular endothelial growth factor receptor inhibitor which has shown high activity in metastatic renal cell carcinoma (mRCC) patients and is now widely used for the same. It is generally well tolerated, but sometimes, it exhibits a distinct pattern of novel side effects that require monitoring and management. Important known side effect of sunitinib includes fatigue, diarrhea, anorexia, skin toxicity, and hypertension which need special mention. Considering its effectiveness in first-line setting in mRCC and paucity of other good options, utmost efforts are made to continue it with identification of side effects which may require only slight dose modification or no dose alteration...
October 2017: International Journal of Trichology
https://www.readbyqxmd.com/read/29110125/-laser-assisted-blepharoplasty
#4
REVIEW
R Thiesmann
Blepharoplasty is one of the most frequently performed plastic cosmetic interventions. For this purpose the CO2 laser is an instrument that can be used as a laser scalpel to cut as well as in its ablative function to remove skin irregularities, such as scars and tumors and also to treat changes of the skin due to aging. Fractionated laser irradiation reduces the duration of skin redness and the postoperative rehabilitation time after a resurfacing. The advantages of the CO2 laser are a gentle intraoperative preparation and less postoperative swelling due to an additional cauterization of blood vessels...
November 6, 2017: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/29098936/facial-asymmetry-in-the-resting-state-reflects-anxiety-status-on-young-males
#5
Alessio Rossi, Damiano Formenti, Luca Cavaggioni, Alice Morgante, Palmina Caruso, Marco Gargano, Nicola Ludwig, Isabella Merzagora, Giampietro Alberti
Facial asymmetry is considered a marker of psychological, emotional and physiological distress, while anxiety is a behavioural, psychological and physiological response to a threat to well-being. Since individuals respond to anxiety with specific patterns (e.g., muscular tension), it is reasonable to hypothesize that anxiety could contribute to facial tension and therefore facial asymmetry. Instead, since facial asymmetry is perceived as "unpleasant" from peers, its presence may be a hindrance to social adaptation contributing to generate anxiety...
November 3, 2017: Laterality
https://www.readbyqxmd.com/read/29093554/the-prevalence-of-double-eyelid-and-the-3d-measurement-of-orbital-soft-tissue-in-malays-and-chinese
#6
Ting Yin Lu, Kathreena Kadir, Wei Cheong Ngeow, Siti Adibah Othman
This study aimed to determine the prevalence of double eyelid among two main Mongoloid ethnicities, the Malays and Chinese who reside in Malaysia. We also measured their periorbital tissue parameters for application in anthropology, optometry, ophthalmology, oculoplastic surgery and maxillofacial trauma surgery. The images of the 103 Malay and 97 Chinese volunteers were captured using indirect 3D photogrammetry, and quantitative measurement was obtained using the software provided by the manufacturer. All Malays and 70...
November 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29077679/revisiting-the-skin-lines-on-the-forehead-and-glabellar-area
#7
Kun Hwang
This paper attempted to revisit the skin lines in forehead and glabellar area.Using PubMed, Scopus, and Google, papers describing skin tension lines of face were searched. Papers with illustrations or pictures of the facial lines were selected and reviewed. The studies of the skin lines in the forehead and glabellar area were analyzed.Langer used the term "cleavage of the cutis, anatomical lines." Over the forehead, he found a border zone of horizontal folds that were interrupted many times by the ascending folds coming from the flabella area...
October 26, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29076466/-a-supraorbital-trans-eyebrow-approach-in-surgery-of-chiasmatic-sellar-and-anterior-cranial-fossa-tumors
#8
A G Alekseev, A A Pichugin, V I Danilov
OBJECTIVE: to analyze 31 resections of chiasmatic-sellar region (CSR) and anterior cranial fossa (ACF) tumors using the supraorbital trans-eyebrow approach (STA). MATERIAL AND METHODS: We analyzed medical histories of 31 patients who underwent tumor resection using STA in the period between October 2013 and April 2017. We analyzed the age and gender of patients, size and location of the tumor, presence of a neurological deficit, vision and olfactory functions before and after surgery, surgery duration, amount of intraoperative blood loss, rate of frontal sinus trephination and nasal liquorrhea, hemorrhagic and ischemic complications after surgery, Simpson grade of tumor resection, patient's condition before and after surgery (Glasgow Outcome Scale and Karnofsky Scale), and degree of patient satisfaction with the cosmetic result of surgery...
2017: Zhurnal Voprosy Neĭrokhirurgii Imeni N. N. Burdenko
https://www.readbyqxmd.com/read/29061174/de-novo-chromosome-7q36-1q36-2-triplication-in-a-child-with-developmental-delay-growth-failure-distinctive-facial-features-and-multiple-congenital-anomalies-a-case-report
#9
Muna A Al Dhaibani, Diane Allingham-Hawkins, Ayman W El-Hattab
BACKGROUND: Studying human genome using chromosomal microarrays has significantly improved the accuracy and yield of diagnosing genomic disorders. Chromosome 7q36 deletions and duplications are rare genomic disorders that have been reported in a limited number of children with developmental delay, growth retardation, and congenital malformation. Altered dosage of SHH and HLXB9, both located in 7q36.3, is believed to play roles in the phenotypes associated with these rearrangements. In this report we describe a child with 7q36...
October 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29053045/relationship-between-ocular-dominance-and-brow-position-in-patients-with-blepharoptosis
#10
Andrew W Thorne, Rao V Chundury, Julian D Perry, Daniel B Rootman
PURPOSE: This study aims to determine if ocular dominance plays a role in predicting compensatory eyebrow elevation in cases of ptosis. METHODS: This retrospective observational cohort study screened all individuals presenting to two tertiary oculoplastics practices with complaints of ptosis for entry. Primary position photographs were obtained. Ocular dominance was assessed via a modified Porta test. Ptosis was defined in bilateral cases as marginal reflex distance of <2...
October 20, 2017: Orbit
https://www.readbyqxmd.com/read/29040367/forehead-lift-using-botulinum-toxin
#11
Sarit Cohen, Ofir Artzi, Lior Heller
Background: The principle of dynamic muscular activity affecting eyebrow height and shape is well known. We postulate that similarly, dynamics of the fronto-galea-occipital muscles affect forehead height. Objectives: To present a forehead lift technique using Botulinum toxin injection and evaluate its clinical efficacy and safety. Methods: Twenty-nine female patients comprised the study group. Forty units of prepared abobutolinumtoxinA (Dysport, 10 U/0...
October 10, 2017: Aesthetic Surgery Journal
https://www.readbyqxmd.com/read/29038894/the-supraorbital-eyebrow-approach-for-removal-of-craniopharyngioma-in-children-a-case-series
#12
Ricardo Santos de Oliveira, Dinark Conceição Viana, Lucas Pires Augusto, Marcelo Volpon Santos, Hélio Rubens Machado
OBJECTIVE: Craniopharyngiomas can be a surgical challenge for the pediatric neurosurgeon. Ideally, total removal must be achieved. However, the need to reduce surgical morbidity and preserve quality of life has led to a number of neurosurgical approaches in order to attain this goal. The aim of this article is to present an alternative surgical approach to these lesions and to provide the rationale for this technique. MATERIAL AND METHODS: Medical charts and operative records of eight pediatric patients harboring craniopharyngiomas who underwent surgical treatment using a supraorbital eyebrow approach (SOA) were reviewed from 2014 to 2016...
October 16, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29036948/commentary-on-transcutaneous-brow-shaping-a-straightforward-and-precise-method-to-lift-and-shape-the-eyebrows
#13
John Mesa, Luis O Vasconez
No abstract text is available yet for this article.
September 1, 2017: Aesthetic Surgery Journal
https://www.readbyqxmd.com/read/29031526/the-temporal-artery-island-flap-a-good-reconstructive-option-for-small-to-medium-sized-facial-defects
#14
Said Algan, Murat Kara, Hakan Cinal, Ensar Zafer Barin, Akin Inaloz, Onder Tan
PURPOSE: The reconstruction of facial defects is esthetically vital because of the unique skin color and texture of the face. The aim of this study was to show the utility of different temporal artery island flap designs for the reconstruction of upper and middle facial defects without contrast to the color and texture of the face. MATERIALS AND METHODS: This study is a retrospective case series conducted from November 2004 through May 2015. Patients older than 18 years with upper and middle facial defects smaller than 5 cm were included...
September 19, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29024830/new-ocular-finding-in-baraitser-winter-syndrome-bws
#15
Natalie Rall, Alejandro Leon, Ricardo Gomez, Jessica Daroca, Yves Lacassie
Baraitser-Winter syndrome was first described as a syndrome of iris coloboma, ptosis, hypertelorism, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016). The phenotypic spectrum has since broadened to include other facial dysmorphic features, deafness, microcephaly, lissencephaly, and CNS findings (Baraitser and Winter 1988; Ganesh et al., 2005; Henedy et al., 2010; Verloes et al., 2015). The syndrome is due to pathogenic variants on either ACTB or ACTG1 genes (Di Donato et al., 2014; Rivière et al...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29024374/human-papillomavirus-and-post-transplant-cutaneous-squamous-cell-carcinoma-a-multicenter-prospective-cohort-study
#16
Jan Nico Bouwes Bavinck, Mariet C W Feltkamp, Adele C Green, Marta Fiocco, Sylvie Euvrard, Catherine A Harwood, Charlotte M Proby, Luigi Naldi, Janouk C D Diphoorn, Anna Venturuzzo, Gianpaolo Tessari, Ingo Nindl, Francesca Sampogna, Damiano Abeni, Rachel E Neale, Jelle J Goeman, Koen D Quint, Anne Berthe Halk, Carmen Sneek, Roel E Genders, Maurits N C de Koning, Wim G V Quint, Ulrike Wieland, Sönke Weissenborn, Tim Waterboer, Michael Pawlita, Herbert Pfister
Organ-transplant recipients (OTR) have a 100-fold increased risk of cutaneous squamous-cell carcinoma (cSCC). We prospectively evaluated the association between beta-genus human-papillomaviruses (betaPV) and keratinocyte carcinoma in OTR. Two OTR cohorts without cSCC were assembled: cohort 1 transplanted in 2003-2006 (n=274) and cohort 2 in 1986-2002 (n=352). Participants were followed until death or cessation of follow-up in 2016. BetaPV infection was assessed in eyebrow hairs using PCR-based methods. BetaPV IgG seroresponses were determined by multiplex serology...
October 11, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/29016354/congenital-cataract-with-lss-gene-mutations-a-new-case-report
#17
Xiaodan Chen, Li Liu
BACKGROUND: Congenital cataract is one of the major causes of blindness and amblyopia in children. About one-third of the cases are inherited. CASE PRESENTATION: We applied whole exome sequencing for a pediatric patient with congenital cataract, small penis, baldness and absence of eyebrows and detected a compound heterozygous mutation in the lanosterol synthase (LSS) gene. These two mutations were inherited from the patient's parents. Both mutations altered the amino acid coding, at highly conserved amino acid residues...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28988429/homozygous-indel-mutation-in-cdh11-as-the-probable-cause-of-elsahy-waters-syndrome
#18
Ekim Z Taskiran, Beren Karaosmanoglu, Can Koşukcu, Özlem A Doğan, Hande Taylan-Şekeroğlu, Pelin Ö Şimşek-Kiper, Eda G Utine, Koray Boduroğlu, Mehmet Alikaşifoğlu
Two sisters from a consanguineous couple were seen in genetics department for facial dysmorphic features and glaucoma. They both had broad foreheads, hypertelorism, megalocorneas, thick eyebrows with synophrys, flat malar regions, broad and bulbous noses, and mild prognathism. Both had glaucoma, younger one also had cataracts and phthisis bulbi. Other findings included bilateral partial cutaneous syndactyly of 2nd and 3rd fingers, history of impacted teeth with dentigerous cyst in the elder one, and intellectual disability (mild and borderline)...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28975711/temporal-brow-lift-vs-internal-browpexy-in-females-undergoing-upper-blepharoplasty-effects-on-lateral-brow-lifting
#19
Alireza Zandi, Behzad Ranjbar-Omidi, Mohsen Pourazizi
BACKGROUND: Lateral brow-lifting surgical procedures in conjunction with upper blepharoplasty may prevent secondary descent following upper blepharoplasty. OBJECTIVE: To compare the results of internal browpexy (IBP) and temporal brow lift (TBL) in patients with dermatochalasis undergoing simultaneous upper blepharoplasty. METHODS: This study was a single-center, parallel-group randomized controlled trial conducted on 32 female patients suitable for upper blepharoplasty...
October 3, 2017: Journal of Cosmetic Dermatology
https://www.readbyqxmd.com/read/28954106/trichotillomania-a-good-response-to-treatment-with-n-acetylcysteine
#20
Livia Ariane Lopes Barroso, Flavia Sternberg, Maria Natalia Inacio de Fraia E Souza, Gisele Jacobino de Barros Nunes
Trichotillomania is considered a behavioral disorder and is characterized by the recurring habit of pulling one's hair, resulting in secondary alopecia. It affects 1% of the adult population, and 2 to 4.4% of psychiatric patients meet the diagnostic criteria. It can occur at any age and is more prevalent in adolescents and females. Its occurrence in childhood is not uncommon and tends to have a more favorable clinical course. The scalp, eyebrows and eyelashes are the most commonly affected sites. Glutamate modulating agents, such as N-acetylcysteine, have been shown to be a promising treatment...
July 2017: Anais Brasileiros de Dermatologia
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