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https://www.readbyqxmd.com/read/28428227/mechanisms-in-endocrinology-the-multiple-facets-of-gh-lessons-from-lifetime-untreated-isolated-gh-deficiency-due-to-ghrh-receptor-mutation
#1
Manuel Aguiar-Oliveira, Anita Ho Souza, Carla R Oliveira, Viviane C Campos, Luiz A Oliveira-Neto, Roberto Salvatori
Twenty years ago, we described a kindred of 105 individuals with isolated GH deficiency (IGHD) in Itabaianinha County, in Brazilian northeast, due to a homozygous mutation in the GH-releasing hormone receptor gene. These subjects exhibit markedly reduced GH responsiveness to stimulatory tests, and anterior pituitary hypoplasia. Serum concentrations of IGF-I, IGF binding protein type 3, and the acid-labile subunit are markedly reduced, with a lesser reduction of IGF-II. The most striking physical findings of these IGHD individuals are the proportionate short stature, doll facies, high-pitched voice, and visceral obesity with reduced fat free mass...
April 20, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28427835/maxillofacial-growth-and-speech-outcome-after-one-stage-or-two-stage-palatoplasty-in-unilateral-cleft-lip-and-palate-a-systematic-review
#2
Rajgopal R Reddy, Srinivas Gosla Reddy, Anitha Vaidhyanathan, Stefaan J Bergé, Anne Marie Kuijpers-Jagtman
BACKGROUND: The number of surgical procedures to repair a cleft palate may play a role in the outcome for maxillofacial growth and speech. The aim of this systematic review was to investigate the relationship between the number of surgical procedures performed to repair the cleft palate and maxillofacial growth, speech and fistula formation in non-syndromic patients with unilateral cleft lip and palate. MATERIAL AND METHODS: An electronic search was performed in PubMed/old MEDLINE, the Cochrane Library, EMBASE, Scopus and CINAHL databases for publications between 1960 and December 2015...
March 22, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28414291/defects-in-dna-replication-hit-nk-cells-and-neutrophils
#3
Klaus Ley
Patients who present with unique immunological phenotypes provide an opportunity to better understand defect-driving mutations. In this issue of the JCI, Cottineau and colleagues characterize 5 individuals who exhibited growth restriction, facial deformities, and a history of bacterial and viral infection. Further characterization revealed that these patients were neutropenic and NK cell deficient. These phenotypes were unexpectedly linked to mutations in the gene encoding a subunit of the Go-Ichi-Ni-San (GINS) complex, which is essential for DNA replication prior to cell division...
April 17, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28414273/oriented-clonal-cell-dynamics-enables-accurate-growth-and-shaping-of-vertebrate-cartilage
#4
Marketa Kaucka, Tomas Zikmund, Marketa Tesarova, Daniel Gyllborg, Andreas Hellander, Josef Jaros, Jozef Kaiser, Julian Petersen, Bara Szarowska, Phillip T Newton, Vyacheslav Dyachuk, Lei Li, Hong Qian, Anne-Sofie Johansson, Yuji Mishina, Josh Currie, Elly M Tanaka, Alek Erickson, Andrew Dudley, Hjalmar Brismar, Paul Southam, Enrico Coen, Min Chen, Lee S Weinstein, Ales Hampl, Ernest Arenas, Andrei S Chagin, Kaj Fried, Igor Adameyko
Cartilaginous structures are at the core of embryo growth and shaping before the bone forms. Here we report a novel principle of vertebrate cartilage growth that is based on introducing transversally-oriented clones into pre-existing cartilage. This mechanism of growth uncouples the lateral expansion of curved cartilaginous sheets from the control of cartilage thickness, a process which might be the evolutionary mechanism underlying adaptations of facial shape. In rod-shaped cartilage structures (Meckel, ribs and skeletal elements in developing limbs), the transverse integration of clonal columns determines the well-defined diameter and resulting rod-like morphology...
April 17, 2017: ELife
https://www.readbyqxmd.com/read/28409723/role-of-electrophysiology-in-guiding-near-total-resection-for-preservation-of-facial-nerve-function-in-the-surgical-treatment-of-large-vestibular-schwannomas
#5
Daniele Bernardeschi, Nadya Pyatigorskaya, Antoine Vanier, Franck Bielle, Mustapha Smail, Georges Lamas, Olivier Sterkers, Michel Kalamarides
OBJECTIVE In large vestibular schwannoma (VS) surgery, the facial nerve (FN) is at high risk of injury. Near-total resection has been advocated in the case of difficult facial nerve dissection, but the amount of residual tumor that should be left and when dissection should be stopped remain controversial factors. The objective of this study was to report FN outcome and radiological results in patients undergoing near-total VS resection guided by electromyographic supramaximal stimulation of the FN at the brainstem...
April 14, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28405168/the-black-evil-affecting-patients-with-diabetes-a-case-of-rhino-orbito-cerebral-mucormycosis-causing-garcin-syndrome
#6
Santhosh Narayanan, Geetha Panarkandy, Gomathy Subramaniam, Chandni Radhakrishnan, N K Thulaseedharan, Neeraj Manikath, Sreejith Ramaswamy, Suma Radhakrishnan, Danish Ekkalayil
Mucormycosis is a life-threatening infection affecting patients with diabetes. It is an angioinvasive disease often resistant to treatment with a debilitating course and high mortality. Here, we report a case of a 45 year old woman with type 2 diabetes mellitus who presented to us with history of right-sided ptosis and facial palsy, and subsequently developed loss of vision and palatal palsy. She was in diabetic ketoacidosis. Nervous system examination revealed involvement of right second, third, fourth, sixth, seventh, ninth, and tenth cranial nerves, suggestive of Garcin syndrome...
2017: Infection and Drug Resistance
https://www.readbyqxmd.com/read/28403265/improvement-of-atrophic-acne-scars-in-skin-of-color-using-topical-synthetic-epidermal-growth-factor-egf-serum-a-pilot-study
#7
Marie Alexia Stoddard, Jennifer Herrmann, Lauren Moy, Ronald Moy
<p>BACKGROUND: Atrophic scarring in skin of color is a common, permanent, and distressing result of uncontrolled acne vulgaris. Ablative lasers and chemical peels are frequently used to improve the appearance of atrophic scars, primarily through the stimulation of collagen and elastin; however, these treatment modalities are associated with risks, such as dyspigmentation and hypertrophic scarring, especially in patients with darker skin.</p> <p>OBJECTIVE: We evaluated the efficacy of topically applied synthetic epidermal growth factor (EGF) serum in reducing the appearance of atrophic acne scars in skin of color...
April 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/28395115/the-brain-of-the-tree-pangolin-manis-tricuspis-i-general-appearance-of-the-central-nervous-system
#8
Aminu Imam, Moyosore S Ajao, Adhil Bhagwandin, Amadi O Ihunwo, Paul R Manger
Here we describe the superficial appearance of the brain of the rarely studied tree pangolin. Phylogenetic analyses have placed the pangolins, order Pholidota, as a sister group to the order Carnivora. The majority of features visible on the surface of the tree pangolin brain, and its overall appearance can be described as typically mammalian. The pattern of sulci and gyri, while simple, appears very similar to that observed in carnivores. Two derived features of the Pholidota were observed, the first being the rostral decussation of the pyramidal tract, which instead of occurring at the spinomedullary junction, decussates at the level of the caudal pole of the facial nerve nucleus in the rostral medulla oblongata...
April 10, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28394464/novel-mca-id-syndrome-with-ash1l-mutation
#9
Nobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, Mitsuhiro Kato, Shinji Saitoh, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki
We identified a novel mutation in ASH1L in a patient with severe intellectual disability, growth failure, microcephaly, facial dysmorphism, myelination delay, and skeletal abnormalities. ASH1L is a histone methyltransferase that associates with the transcribed region of all active genes examined, including Hox genes. It catalyzes H3K36 methylation and plays important roles in development. There has been increasing evidence that heterozygous mutation of ASH1L is associated with ID and autism spectrum disorders...
April 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28390125/impact-of-early-childhood-caries-and-its-treatment-under-general-anesthesia-on-orofacial-function-and-quality-of-life-a-prospective-comparative-study
#10
V Collado, H Pichot, C Delfosse, C Eschevins, E Nicolas, M Hennequin
BACKGROUND: Early Childhood Caries (ECC) has become a major public health concern worldwide, mostly affecting children from disadvantaged families in increasingly severe forms. This condition has been frequently reported to alter children's nutrition, growth and general development. It negatively impacts their quality of life, through painful episodes and severe eating difficulties. While this period is crucial for oral praxes development, the impact of dental state on oro-facial functions is poorly documented...
April 8, 2017: Medicina Oral, Patología Oral y Cirugía Bucal
https://www.readbyqxmd.com/read/28390077/aberrant-hras-transcript-processing-underlies-a-distinctive-phenotype-within-the-rasopathy-clinical-spectrum
#11
Francesca Pantaleoni, Dorit Lev, Ion C Cirstea, Marialetizia Motta, Francesca Romana Lepri, Lisabianca Bottero, Serena Cecchetti, Ilan Linger, Stefano Paolacci, Elisabetta Flex, Antonio Novelli, Alessandra Carè, Reza Ahmadian, Emilia Stellacci, Marco Tartaglia
RASopathies are a group of rare, clinically related conditions affecting development and growth, and are caused by germline mutations in genes encoding signal transducers and modulators with a role in the RAS signaling network. These disorders share facial dysmorphia, short stature, variable cognitive deficits, skeletal and cardiac defects, and a variable predisposition to malignancies. Here, we report on a de novo 10-nucleotide-long deletion in HRAS (c.481_490delGGGACCCTCT, NM_176795.4; p.Leu163ProfsTer52, NP_789765...
April 8, 2017: Human Mutation
https://www.readbyqxmd.com/read/28388793/treating-the-deviated-or-wide-nasal-dorsum
#12
Richard E Davis, Allen I Foulad
Both deviation and excessive width of the nasal dorsum result in conspicuous facial disharmony and are often attended by nasal airway dysfunction. Whether the result of developmental growth disturbances, nasal trauma, failed nasal surgery, or combinations therein, deviation and splaying of the nasal dorsum can be exceedingly difficult to treat. Individualized treatment is paramount because contour variations are seemingly endless, and a careful preoperative assessment of the anatomic, physiologic, cosmetic, and psychosocial factors that characterize the deformity is necessary to devise an effective patient-specific treatment plan...
April 2017: Facial Plastic Surgery: FPS
https://www.readbyqxmd.com/read/28387648/dysmorphic-features-frontal-cerebral-cavernoma-and-hyperglycemia-in-a-girl-with-a-de-novo-deletion-of-7-23-mb-in-region-7p13-p12-1
#13
Gilberto Pérez López, Beatriz Villafuerte Quispe, María José Cabrejas Núñez, Luis Castaño, Raquel Barrio
We describe the case of a 7 year old girl referred to our Diabetes Unit for hyperglycemia associated to facial dysmorphic features, intellectual disability and cerebral cavernomas, who was initially diagnosed with type 1 diabetes mellitus (positive anti-IA2 antibody and HLA DR3/DR4/DQ2). In follow up, due to the evolution of the diabetes (very good metabolic control with low insulin dose and negative IA-2 antibodies - samples analyzed in two different laboratories-), first clinical suspicion was GCK-related Maturity-Onset Diabetes of the Young (MODY 2) by persistent mild hyperglycemia in the fasting state, which was substantiated in Multiplex Ligation-dependent Probe Amplification (MLPA)...
April 7, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28374925/clinical-spectrum-of-kabuki-like-syndrome-caused-by-hnrnpk-haploinsufficiency-case-report-and-literature-review
#14
Maria Lisa Dentici, Sabina Barresi, Marcello Niceta, Francesca Pantaleoni, Simone Pizzi, Bruno Dallapiccola, Marco Tartaglia, Maria Cristina Digilio
Kabuki syndrome is a genetically heterogeneous disorder characterized by postnatal growth retardation, skeletal abnormalities, intellectual disability, facial dysmorphisms and a variable range of organ malformations. In approximately 30% of affected individuals, the underlying genetic defect remains unknown. A small number of inactivating heterozygous HNRNPK mutations has recently been reported to be associated with a condition partially overlapping or suggestive of Kabuki syndrome. Here, we report on an 11 year-old girl with a complex phenotype in whom the diagnosis of KS was suggested but molecular testing for the known causative disease genes was negative...
April 4, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28373809/a-child-with-kabuki-syndrome-and-autism-spectrum-disorder
#15
Mehmet Sertçelik, Çağatay Uğur, Aynur Şahin Aközel, Cihat Kağan Gürkan
Kabuki syndrome (KS) is characterized by skeletal abnormalities, short stature, characteristic facial features, postnatal growth delay, and mental retardation. There are only a few case reports that present the coexistence of KS with autism spectrum disorder (ASD) in the literature. Herein we present the case of a boy with KS and ASD and discuss the possible shared etiologies. A 4-year-old boy was brought by his parents with complaints of no speech, hyperactivity, enuresis complex, temper tantrum, self-injury, and harming people or objects...
September 2016: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28364903/long-term-follow-up-of-a-patient-with-achondroplasia-treated-with-an-orthodontic-approach
#16
Hiroyo Mori, Kazuma Matsumoto, Nobuhiko Kawai, Takashi Izawa, Shinya Horiuchi, Eiji Tanaka
We successfully treated a patient with achondroplasia with conventional orthodontic techniques. It was followed by long-term retention. The patient, a 12-year-old boy, had chief complaints of occlusal disturbance and mandibular protrusion. He had been diagnosed with achondroplasia and had growth hormone treatment in his early teenage years. His facial profile was concave with a bulging forehead and a retrognathic maxilla. It was characterized by a skeletal Class III jaw-base relationship with a retropositioned maxilla...
April 2017: American Journal of Orthodontics and Dentofacial Orthopedics
https://www.readbyqxmd.com/read/28360987/a-diagnosis-to-consider-in-an-adult-patient-with-facial-features-and-intellectual-disability-williams-syndrome
#17
Özlem Akgün Doğan, Pelin Özlem Şimşek Kiper, Gülen Eda Utine, Mehmet Alikaşifoğlu, Koray Boduroğlu
Williams syndrome (OMIM #194050) is a rare, well-recognized, multisystemic genetic condition affecting approximately 1/7,500 individuals. There are no marked regional differences in the incidence of Williams syndrome. The syndrome is caused by a hemizygous deletion of approximately 28 genes, including ELN on chromosome 7q11.2. Prenatal-onset growth retardation, distinct facial appearance, cardiovascular abnormalities, and unique hypersocial behavior are among the most common clinical features. Here, we report the case of a patient referred to us with distinct facial features and intellectual disability, who was diagnosed with Williams syndrome at the age of 37 years...
March 2017: Korean Journal of Family Medicine
https://www.readbyqxmd.com/read/28359687/comparison-of-the-adult-three-dimensional-craniofacial-features-of-patients-with-unilateral-craniofacial-microsomia-with-and-without-early-mandible-distraction
#18
E W-C Ko, P K-T Chen, L-J Lo
This study was conducted to analyze the long-term facial growth of patients with craniofacial microsomia (CFM) after early mandible distraction osteogenesis (DO), and compared adult three-dimensional (3D) craniofacial features of patients with and without early mandibular DO for Pruzansky grade II deformities. The study included 20 patients: 9 with early mandible DO (the DO group) and 11 without previous treatment (the NDO group). Longitudinal radiographs were measured for growth changes after DO. The 3D craniofacial images were constructed to compare the craniofacial forms between the two groups...
March 27, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28349495/a-novel-report-on-the-use-of-an-oncology-zygomatic-implant-retained-maxillary-obturator-in-a-paediatric-patient
#19
Amit Dattani, David Richardson, Chris J Butterworth
This report details the use of zygomatic oncology osseointegrated implants to support and retain a maxillary obturator in a 13-year-old male patient who underwent a right-sided hemi-maxillectomy (Brown Class 2b) (Brown and Shaw, Lancet Oncol 11:1001-8, 2010) for a myxoid spindle cell carcinoma. At the time of maxillary resection, two zygomatic oncology implants were inserted into the right zygomatic body and subsequently utilised to provide in-defect support and retention for a bar-retained maxillary acrylic obturator prosthesis, which restored the patient's aesthetics and function to a very high level...
December 2017: International Journal of Implant Dentistry
https://www.readbyqxmd.com/read/28343630/de-novo-truncating-mutations-in-the-last-and-penultimate-exons-of-ppm1d-cause-an-intellectual-disability-syndrome
#20
Sandra Jansen, Sinje Geuer, Rolph Pfundt, Rachel Brough, Priyanka Ghongane, Johanna C Herkert, Elysa J Marco, Marjolein H Willemsen, Tjitske Kleefstra, Mark Hannibal, Joseph T Shieh, Sally Ann Lynch, Frances Flinter, David R FitzPatrick, Alice Gardham, Birgitta Bernhard, Nicola Ragge, Ruth Newbury-Ecob, Raphael Bernier, Malin Kvarnung, E A Helena Magnusson, Marja W Wessels, Marjon A van Slegtenhorst, Kristin G Monaghan, Petra de Vries, Joris A Veltman, Christopher J Lord, Lisenka E L M Vissers, Bert B A de Vries
Intellectual disability (ID) is a highly heterogeneous disorder involving at least 600 genes, yet a genetic diagnosis remains elusive in ∼35%-40% of individuals with moderate to severe ID. Recent meta-analyses statistically analyzing de novo mutations in >7,000 individuals with neurodevelopmental disorders highlighted mutations in PPM1D as a possible cause of ID. PPM1D is a type 2C phosphatase that functions as a negative regulator of cellular stress-response pathways by mediating a feedback loop of p38-p53 signaling, thereby contributing to growth inhibition and suppression of stress-induced apoptosis...
April 6, 2017: American Journal of Human Genetics
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