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https://www.readbyqxmd.com/read/29145277/tricho-hepato-enteric-syndrome-with-novel-skiv2l-gene-mutations-a-case-report
#1
Eitaro Hiejima, Takahiro Yasumi, Hiroshi Nakase, Minoru Matsuura, Yusuke Honzawa, Hirokazu Higuchi, Ikuo Okafuji, Tohru Yorifuji, Takayuki Tanaka, Kazushi Izawa, Tomoki Kawai, Ryuta Nishikomori, Toshio Heike
RATIONALE: Tricho-hepato-enteric syndrome (THES) is a rare disorder caused by mutations in the TTC37 or SKIV2L genes and characterized by chronic diarrhea, liver disease, hair abnormalities, and high mortality in early childhood due to severe infection or liver cirrhosis. PATIENT CONCERNS: The patient is the second child of three siblings born to non-consanguineous healthy Japanese parents. She had intrauterine growth retardation and was delivered at 33 weeks of gestation due to placental abruption...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29143784/primary-cilium-dependent-signaling-mechanisms
#2
REVIEW
Rajasekharreddy Pala, Nedaa Alomari, Surya M Nauli
Primary cilia are hair-like organelles and play crucial roles in vertebrate development, organogenesis, health, and many genetic disorders. A primary cilium is a mechano-sensory organelle that responds to mechanical stimuli in the micro-environment. A cilium is also a chemosensor that senses chemical signals surrounding a cell. The overall function of a cilium is therefore to act as a communication hub to transfer extracellular signals into intracellular responses. Although intracellular calcium has been one of the most studied signaling messengers that transmit extracellular signals into the cells, calcium signaling by various ion channels remains a topic of interest in the field...
October 28, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29142569/prevalence-and-predictors-of-non-suicidal-self-injury-among-children-with-autism-spectrum-disorder
#3
Bushra Akram, Mehak Batool, Zeeshan Rafi, Abrar Akram
Objectives: To find the prevalence as well as to identify the predictors as protective and risk factors of Non-Suicidal Self-Injury (NSSI) among children with autism spectrum disorder (ASD). Methods: In this analytical cross sectional survey 83 children with ASD age range from 8 to 18 years were selected through convenient sampling technique from five special schools of Lahore city. The Urdu form of a standardized tool was used to assess NSSI. Results: Statistical analysis indicated overall point prevalence of NSSI was 33%...
September 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/29142202/genomic-mosaicism-in-paternal-sperm-and-multiple-parental-tissues-in-a-dravet-syndrome-cohort
#4
Xiaoxu Yang, Aijie Liu, Xiaojing Xu, Xiaoling Yang, Qi Zeng, Adam Yongxin Ye, Zhe Yu, Sheng Wang, August Yue Huang, Xiru Wu, Qixi Wu, Liping Wei, Yuehua Zhang
Genomic mosaicism in parental gametes and peripheral tissues is an important consideration for genetic counseling. We studied a Chinese cohort affected by a severe epileptic disorder, Dravet syndrome (DS). There were 56 fathers who donated semen and 15 parents who donated multiple peripheral tissue samples. We used an ultra-sensitive quantification method, micro-droplet digital PCR (mDDPCR), to detect parental mosaicism of the proband's pathogenic mutation in SCN1A, the causal gene of DS in 112 families. Ten of the 56 paternal sperm samples were found to exhibit mosaicism of the proband's mutations, with mutant allelic fractions (MAFs) ranging from 0...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29141068/new-insight-into-the-pathophysiology-of-hair-loss-trigger-a-paradigm-shift-in-the-treatment-approach
#5
Neil S Sadick, Valerie D Callender, Leon H Kircik, Sophia Kogan
<p>Hair loss affects millions of men and women of all ages and ethnicities, impacting appearance, social interactions, and psycho-emotional well-being. Although a number of options are available, they are limited, carry a potential risk of side effects, and none have proven to be comprehensive for treatment of hair loss. Across the spectrum of hair loss disorders, there has long been a segmentation into distinct mechanisms, driving the main trend in current therapeutics to focus on targeting single molecules or pathways...
November 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/29138706/radiological-diagnosis-of-a-rare-premature-aging-genetic-disorder-progeria-hutchinson-gilford-syndrome
#6
Haji Mohammed Nazir, Akshiitha Ramesh Baabhu, Yuvaraj Muralidharan, Seena Cheppala Rajan
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare disease with a combination of short stature, bone abnormalities, premature ageing, and skin changes. Though the physical appearance of these patients is characteristic, there is little emphasis on the characteristic radiological features. In this paper, we report a 16-year-old boy with clinical and radiological features of this rare genetic disorder. He had a characteristic facial appearance with a large head, large eyes, thin nose with beaked tip, small chin, protruding ears, prominent scalp veins, and absence of hair...
2017: Case Reports in Radiology
https://www.readbyqxmd.com/read/29136266/prostanoids-and-hair-follicles-implications-for-therapy-of-hair-disorders
#7
Xue-Gang Xu, Hong-Duo Chen
Prostanoids, including prostaglandins (PGs) and thromboxane A2 (TXA2), are a family of lipid-derived autacoids that modulate many physiological systems and pathological contexts. Prostanoids are generated by sequential metabolism of arachidonic acid, catalysed by cyclo-oxygenase, to PGH2, which is then converted to PGD2, PGE2, PGF2α, PGI2 and TXA2, catalysed by their specific synthases. Recent evidence suggests that prostanoids play a role in regulating hair growth. The PGF2α analogue is Food and Drug Administration-approved and routinely used to enhance the growth of human eyelashes...
November 14, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/29134781/clinical-and-molecular-genetic-characterization-of-a-male-patient-with-sensenbrenner-syndrome-cranioectodermal-dysplasia-and-biallelic-wdr35-mutations
#8
Joanna Walczak-Sztulpa, Anna Wawrocka, Anna Swiader-Lesniak, Magdalena Socha, Aleksander Jamsheer, Dorota Drozdz, Anna Latos-Bielenska, Katarzyna Zachwieja
BACKGROUND: Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy first described by Judith Sensenbrenner in 1975. CED is a complex disorder characterized by craniofacial, skeletal, and ectodermal abnormalities. The clinical symptoms are variable and the CED phenotype may present intrafamilial and interfamilial differences. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disease...
November 14, 2017: Birth defects research
https://www.readbyqxmd.com/read/29130490/sequence-variants-in-nine-different-genes-underlying-rare-skin-disorders-in-10-consanguineous-families
#9
Khadim Shah, Sabba Mehmood, Abid Jan, Izoduwa Abbe, Raja Hussain Ali, Anwar Khan, Muhammad S Chishti, Kwanghyuk Lee, Farooq Ahmad, Muhammad Ansar, Shaheen Shahzad, Deborah A Nickerson, Michael J Bamshad, Paul J Coucke, Regie L P Santos-Cortez, Richard A Spritz, Suzanne M Leal, Wasim Ahmad
BACKGROUND: Genodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine glands, nails, and teeth. Ten consanguineous families segregating various genodermatosis phenotypes were investigated in the present study. METHODS: Homozygosity mapping, exome, and Sanger sequencing were employed to search for the disease-causing variants in the 10 families. RESULTS: Exome sequencing identified seven homozygous sequence variants in different families, including: c...
December 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/29128463/objective-outcome-measures-collecting-meaningful-data-on-alopecia-areata
#10
Elise A Olsen, Janet Roberts, Leonard Sperling, Antonella Tosti, Jerry Shapiro, Amy McMichael, Wilma Bergfeld, Valerie Callender, Paradi Mirmirani, Ken Washenik, David Whiting, George Cotsarelis, Maria Hordinsky
BACKGROUND: Although alopecia areata is a common disorder, it has no FDA approved treatment and evidence-based therapeutic data is lacking. OBJECTIVE: To develop guidelines for the diagnosis, evaluation, assessment, response criteria and endpoints for alopecia areata. METHODS: Literature review and expert opinion of a group of dermatologists specializing in hair disorders. RESULTS: Standardized methods of assessing and tracking hair loss and growth including new scoring techniques, response criteria and endpoints in alopecia areata are presented...
November 8, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29127340/hair-cortisol-in-twins-heritability-and-genetic-overlap-with-psychological-variables-and-stress-system-genes
#11
Liz Rietschel, Fabian Streit, Gu Zhu, Kerrie McAloney, Josef Frank, Baptiste Couvy-Duchesne, Stephanie H Witt, Tina M Binz, John McGrath, Ian B Hickie, Narelle K Hansell, Margaret J Wright, Nathan A Gillespie, Andreas J Forstner, Thomas G Schulze, Stefan Wüst, Markus M Nöthen, Markus R Baumgartner, Brian R Walker, Andrew A Crawford, Lucía Colodro-Conde, Sarah E Medland, Nicholas G Martin, Marcella Rietschel
Hair cortisol concentration (HCC) is a promising measure of long-term hypothalamus-pituitary-adrenal (HPA) axis activity. Previous research has suggested an association between HCC and psychological variables, and initial studies of inter-individual variance in HCC have implicated genetic factors. However, whether HCC and psychological variables share genetic risk factors remains unclear. The aims of the present twin study were to: (i) assess the heritability of HCC; (ii) estimate the phenotypic and genetic correlation between HPA axis activity and the psychological variables perceived stress, depressive symptoms, and neuroticism; using formal genetic twin models and molecular genetic methods, i...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29125965/death-by-self-mutilation-after-oral-cannabis-consumption
#12
Clemence Delteil, Caroline Sastre, Marie-Dominique Piercecchi, Catherine Faget-Agius, Marc Deveaux, Pascal Kintz, Marc-Antoine Devooght, George Leonetti, Christophe Bartoli, Anne-Laure Pélissier-Alicot
Major self-mutilation (amputation, castration, self-inflicted eye injuries) is frequently associated with psychiatric disorders and/or substance abuse. A 35-year-old man presented with behavioral disturbances of sudden onset after oral cannabis consumption and major self-mutilation (attempted amputation of the right arm, self-enucleation of both eyes and impalement) which resulted in death. During the enquiry, four fragments of a substance resembling cannabis resin were seized at the victim's home. Autopsy confirmed that death was related to hemorrhage following the mutilations...
November 2, 2017: Legal Medicine
https://www.readbyqxmd.com/read/29118523/three-cases-of-hair-loss-analyzed-by-the-point-of-view-of-the-analytical-psychology
#13
Ademir Carvalho Leite Júnior, Tatiele Katzer, Denise Gimenez Ramos
Psychotrichology is the science, which covers the psychosomatics applied to hair problems, i.e., body-psyche phenomena involving scalp and hair disorders. The approaches involving psychotricology are varied and may include psychiatric,[1] psychoanalytical,[23] and those involving knowledge related to analytical psychology.[4] An analysis from the analytical psychology point of view, a theory developed by the physician Carl Gustav Jung, favors a symbolic view to the disease, providing it attributions and meanings that go beyond those related to physical body signs and symptoms only...
October 2017: International Journal of Trichology
https://www.readbyqxmd.com/read/29118202/bayesian-optimal-adaptation-explains-age-related-human-sensorimotor-changes
#14
Faisal Karmali, Gregory T Whitman, Richard F Lewis
The brain uses information from different sensory systems to guide motor behavior, and aging is associated with a simultaneous decline in the quality of sensory information provided to the brain and a deterioration in motor control. Correlations between age-dependent decline in sensory anatomical structures and behavior have been demonstrated, and it has recently been suggested that a Bayesian framework could explain these relationships. Here we show that age-dependent changes in a human sensorimotor reflex, the vestibulo-ocular reflex, are explained by a Bayesian optimal adaptation in the brain occurring in response to death of motion-sensing hair cells...
November 8, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/29114992/working-memory-predicts-methamphetamine-hair-concentration-over-the-course-of-treatment-moderating-effect-of-impulsivity-and-implications-for-dual-systems-model
#15
Adam J Rubenis, Rebecca E Fitzpatrick, Dan I Lubman, Antonio Verdejo-Garcia
High impulsivity and poor executive function are characteristic of methamphetamine use disorder. High arousal in the impulsive system has been proposed to compromise the executive system's regulating ability (i.e. the dual-systems model). While interaction between these variables may partly explain poor treatment outcomes associated with methamphetamine use disorder, previous research has tended to examine each factor separately. We investigated whether high impulsivity (measured with an impulsive choice task) and poor executive function (measured with a working memory task) predict methamphetamine use (determined by hair sample) in the 6 weeks following treatment commencement...
November 8, 2017: Addiction Biology
https://www.readbyqxmd.com/read/29108540/cosmetic-concerns-among-ethnic-men
#16
REVIEW
Michelle Henry
Men of all races are currently more open to requesting and undergoing treatments for a plethora of cosmetic concerns. Among the most common goals are procedures that combat the signs of aging, rejuvenate the skin, even out the color tone, address textural issues such as acne scarring, and improve hair disorders. Given the differences in cultural ideals and anatomic/physiologic differences in ethnic skin, it is important for physicians to be aware and sensitive to the nuances required when providing consultation and treating non-Caucasian men...
January 2018: Dermatologic Clinics
https://www.readbyqxmd.com/read/29103820/an-overview-of-the-biology-of-platelet-rich-plasma-and-microneedling-as-potential-treatments-for-alopecia-areata
#17
REVIEW
Lauren C Strazzulla, Lorena Avila, Kristen Lo Sicco, Jerry Shapiro
Platelet-rich plasma and microneedling have been investigated recently as potential therapeutic options for the treatment of hair disorders. Evidence from laboratory studies indicates that these treatments enhance growth factor production that in turn facilitates hair follicle development and cycling. Several small studies and case reports have presented encouraging findings regarding the use of these treatments for alopecia areata. Future investigations will be needed to validate these therapeutic techniques for patients with alopecia areata and further refine which subtypes of the disease these methods are best indicated for...
November 3, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29102368/-body-dysmorphic-disorder-future-prospects-of-medical-care
#18
E Siegfried, A Ayrolles, H Rahioui
Body dysmorphic disorder (BDD) is characterized by excessive preoccupation with a slight or imagined defect in one's physical appearance, believing they look ugly, abnormal or deformed. While the most common preoccupations focus on the skin, hair and nose, any part of the body may be involved. Preoccupations are intrusive, time-consuming and hard to control. Repetitive behaviors are performed in response to the preoccupations. BDD is associated with marked impairment in socio-professional functioning, poor quality of life and high suicide rates...
November 1, 2017: L'Encéphale
https://www.readbyqxmd.com/read/29100094/de-novo-mutations-in-slc25a24-cause-a-disorder-characterized-by-early-aging-bone-dysplasia-characteristic-face-and-early-demise
#19
Karin Writzl, Ales Maver, Lidija Kovačič, Paula Martinez-Valero, Laura Contreras, Jorgina Satrustegui, Marco Castori, Laurence Faivre, Pablo Lapunzina, André B P van Kuilenburg, Slobodanka Radović, Christel Thauvin-Robinet, Borut Peterlin, Araceli Del Arco, Raoul C Hennekam
A series of simplex cases have been reported under various diagnoses sharing early aging, especially evident in congenitally decreased subcutaneous fat tissue and sparse hair, bone dysplasia of the skull and fingers, a distinctive facial gestalt, and prenatal and postnatal growth retardation. For historical reasons, we suggest naming the entity Fontaine syndrome. Exome sequencing of four unrelated affected individuals showed that all carried the de novo missense variant c.649C>T (p.Arg217Cys) or c.650G>A (p...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29098466/prevalence-and-predictors-of-hair-pulling-disorder-and-excoriation-disorder-in-tourette-syndrome
#20
Erica Greenberg, Esther S Tung, Caitlin Gauvin, Lisa Osiecki, Kelly G Yang, Erin Curley, Angela Essa, Cornelia Illmann, Paul Sandor, Yves Dion, Gholson J Lyon, Robert A King, Sabrina Darrow, Matthew E Hirschtritt, Cathy L Budman, Marco Grados, David L Pauls, Nancy J Keuthen, Carol A Mathews, Jeremiah M Scharf
Trichotillomania/hair pulling disorder (HPD) and excoriation/skin picking disorder (SPD) are childhood-onset, body-focused repetitive behaviors that are thought to share genetic susceptibility and underlying pathophysiology with obsessive-compulsive disorder (OCD) and Tourette syndrome (TS). We sought to determine the prevalence of DSM-5 HPD and SPD in TS patients, and to identify clinical factors most associated with their co-morbidity with TS. Participants included 811 TS patients recruited from TS specialty clinics for a multi-center genetic study...
November 2, 2017: European Child & Adolescent Psychiatry
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