keyword
https://read.qxmd.com/read/36877453/autonomous-growth-hormone-secretion-due-to-mccune-albright-syndrome-in-paediatric-age-group-an-ominous-triad
#21
JOURNAL ARTICLE
Satyam Singh Jayant, Rama Walia, Rahul Gupta, Rimesh Pal, Shakun Chaudhary, Kanhaiya Agrawal, Ashu Rastogi, Anish Bhattacharya, Pinaki Dutta, Sanjay Kumar Bhadada, Anil Bhansali
PURPOSE: The current study aimed to report cases of McCune Albright syndrome (MAS) with growth hormone (GH) hyper secretion along with a systematic review of literature to elucidate challenges and intricacies in its diagnosis and management. METHODS: It was a single centre study carried out in individuals with MAS and autonomous GH secretion (AGHS). In addition, a systematic search of literature across three databases (PubMed, Scopus and EMBASE) was performed from inception until May 31, 2021 to identify cases of MAS with AGHS in the pediatric age group (<18 years)...
March 6, 2023: Endocrine
https://read.qxmd.com/read/36792821/time-course-of-sutural-width-during-the-physiological-growth-from-birth-to-adulthood-ct-quantitative-and-qualitative-evaluations-of-sutural-arches
#22
JOURNAL ARTICLE
Rosalinda Calandrelli, Fabio Pilato, Gabriella D'Apolito, Laura Tuzza, Cesare Colosimo
PURPOSE: We performed a retrospective qualitative and quantitative evaluation of the sutural changes during the physiological growth to define the age-related ossification stages of major and minor skull sutures or synchondroses. METHODS: A total of 390 healthy subjects, examined for cranio-facial trauma and whose CT scans turned out to be normal, were clustered into homogenous age-matched groups ranged from birth to 90 years. High-resolution CT was used to assess the degree of sutural closure according to a 3-grade scoring system, the sutural pattern, the width, and the density of the gap calculated as the average of two or three ROIs along each suture/synchondrosis...
February 16, 2023: Neuroradiology
https://read.qxmd.com/read/36638633/per-and-polyfluoroalkyl-substances-pfas-inhibit-cytochrome-p450-cyp3a7-through-direct-coordination-to-the-heme-iron-and-water-displacement
#23
JOURNAL ARTICLE
Michaela Hvizdak, Sylvie E Kandel, Hannah M Work, Emily G Gracey, Rebecca L McCullough, Jed N Lampe
Per- and polyfluoroalkyl substances (PFAS) are a chemical class of highly stable, fluorinated compounds popular for use in a variety of consumer products. PFAS environmental persistence in drinking water contributes to acute exposure in humans and subsequent bioaccumulation of the compounds in the liver and lung tissue. Prenatal PFAS exposure has been associated with lowered birth weight, premature birth, and developmental defects including cranio-facial abnormalities. The cytochrome P450 enzyme CYP3A7 is responsible for facilitating a variety of reactions essential for proper fetal development in humans...
March 2023: Journal of Inorganic Biochemistry
https://read.qxmd.com/read/36635983/design-and-validation-of-a-3d-printed-cranio-facial-simulator-a-novel-tool-for-surgical-education
#24
JOURNAL ARTICLE
Joshua M Wright, Jonathan M Ford, Fatima Qamar, Matthew Lee, Jordan N Halsey, Matthew D Smyth, Summer J Decker, S Alex Rottgers
OBJECTIVE: To assess the ability of current 3D printing technology to generate a craniofacial bony and soft tissue anatomical model for use in simulating the performance of a fronto-orbital advancement (FOA) osteotomy and then to further assess the value of the model as an educational tool. DESIGN: Anatomic models were designed with a process of serial anatomic segmentation/design, 3D printing, dissection, and device refinement. A validation study was conducted with 5 junior and 5 senior plastic surgery residents...
January 12, 2023: Cleft Palate-craniofacial Journal
https://read.qxmd.com/read/36458731/home-continuous-positive-airway-pressure-therapy-in-infants-a-single-center-experience
#25
JOURNAL ARTICLE
Shambhavi Sahotra Joshi, Dasheni Sivapalan, Marie-Josee Leclerc, Nitin Kapur
STUDY OBJECTIVES: There is limited data on indications and outcomes of home continuous positive airway pressure (CPAP) therapy in the first year of life. We aimed to analyze the clinical, demographic, and polysomnographic (PSG) characteristics of a cohort of children initiated on home CPAP for treatment of sleep disordered breathing (SDB) and as respiratory support in the first year of life. METHODS: Children started on CPAP in the first year of life at the Queensland Children's Hospital were retrospectively evaluated for clinical & demographic parameters, underlying diagnoses, respiratory support, airway surgical intervention, PSG results at baseline and on CPAP...
December 2, 2022: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://read.qxmd.com/read/36453204/analysis-of-an-injuries-database-in-italian-ski-resorts
#26
JOURNAL ARTICLE
Saverio Giampaoli, Lorenzo Lupi, Luigi Faccia, Antonio Tessitore, Sabrina Demarie
BACKGROUND: Italy is one of the main destinations for winter tourism. Specifically, the country can currently count on more than 5.700 km of ski runs, served by more than 1.700 lift facilities Objective. The purpose of this study has been the analysis of injuries in ski resorts in a continuous period spanning over several seasons (17 years). In addition, the possible effect of safety law enforcements, introduced in the selected period, were considered. MATERIAL AND METHODS: A ski injuries database, prepared as a duty of policemen involved in rescue activity and consisting of 246616 records of injuries for the period from 7th December 2002 to 31st December 2019, has been analysed for qualitative and quantitative variables...
2022: Igiene e Sanità Pubblica
https://read.qxmd.com/read/36388004/management-of-hypertelorism
#27
JOURNAL ARTICLE
Philippe Pellerin
Aim: To summarize the experience of the author with the treatment of hypertelorism. Settings and Design: The author has been heading a high-caseload department of craniofacial surgery for 38 years; the research is based on his experience with this pathology by this time. Materials and Methods: The charts of 38 patients were used for this research. Statistical Analysis Used: No statistic was used; the author has just given his personal insights as the result of a professional life devoted to the problem...
September 2022: Journal of Pediatric Neurosciences
https://read.qxmd.com/read/36292202/-3d-counterpart-analysis-a-novel-method-for-enlow-s-counterpart-analysis-on-cbct
#28
JOURNAL ARTICLE
Michele D'Attilio, Antonino Peluso, Giulia Falone, Rossana Pipitone, Francesco Moscagiuri, Francesco Caroccia
The aim of this study was to propose a novel 3D Enlow's counterpart analysis traced on cone-beam computed tomography (CBCT) images. Eighteen CBCT images of skeletal Class I (ANB = 2° ± 2°) subjects (12 males and 6 females, aged from 9 to 19 years) with no history of previous orthodontic treatment were selected. For each subject, a 2D Enlow's counterpart analysis was performed on lateral cephalograms extracted from the CBCT images. The following structures were identified: mandibular ramus, middle cranial floor, maxillary skeletal arch, mandibular skeletal arch, maxillary dento-alveolar arch, mandibular dento-alveolar arch...
October 17, 2022: Diagnostics
https://read.qxmd.com/read/36213481/effectiveness-of-titratable-oral-appliance-in-management-of-moderate-to-severe-obstructive-sleep-apnea-a-prospective-clinical-study-with-acoustic-pharyngometry
#29
JOURNAL ARTICLE
Shiv Shankar Agarwal, Sanjeev Datana, I D Roy, Pushkar Andhare
To assess effectiveness of titratable Oral Appliance (OA) in management of moderate to severe cases of Obstructive Sleep Apnea (OSA). Thirty Polysomnography (PSG) diagnosed cases of moderate to severe OSA were subjected to a thorough cranio-facial-dental evaluation, a detailed sleep history and three dimensional assessment of upper airway geometry utilising Acoustic Pharyngometry (AP) (Eccovision, sleep group solutions). A titratable OA was delivered to all patients for mandibular advancement. Apnea Hypopnea Index (AHI), Oxygen Saturation (SPO2 ), Epworth's Sleepiness Scale (ESS), Mean area and volume of upper airway were recorded at Baseline (T0) and after 08 weeks of appliance delivery (T1)...
September 2022: Indian Journal of Otolaryngology and Head and Neck Surgery
https://read.qxmd.com/read/36186235/the-value-of-broad-taxonomic-comparisons-in-evolutionary-medicine-disease-is-not-a-trait-but-a-state-of-a-trait
#30
JOURNAL ARTICLE
Mihaela Pavličev, Günter P Wagner
In this short paper, we argue that there is a fundamental connection between the medical sciences and evolutionary biology as both are sciences of biological variation. Medicine studies pathological variation among humans (and domestic animals in veterinary medicine) and evolutionary biology studies variation within and among species in general. A key principle of evolutionary biology is that genetic differences among species have arisen first from mutations originating within populations. This implies a mechanistic continuity between variation among individuals within a species and variation between species...
December 2022: MedComm
https://read.qxmd.com/read/36146014/pierre-robin-sequence-and-3d-printed-personalized-composite-appliances-in-interdisciplinary-approach
#31
JOURNAL ARTICLE
Andrej Thurzo, Barbora Šufliarsky, Wanda Urbanová, Martin Čverha, Martin Strunga, Ivan Varga
This paper introduces a complex novel concept and methodology for the creation of personalized biomedical appliances 3D-printed from certified biocompatible photopolymer resin Dental LT Clear (V2). The explained workflow includes intraoral and CT scanning, patient virtualization, digital appliance design, additive manufacturing, and clinical application with evaluation of the appliance intended for patients with cranio-facial syndromes. The presented concept defines virtual 3D fusion of intraoral optical scan and segmented CT as sufficient and accurate data defining the 3D surface of the face, intraoral and airway morphology necessary for the 3D design of complex personalized intraoral and extraoral parts of the orthopedic appliance...
September 15, 2022: Polymers
https://read.qxmd.com/read/36123956/3d-orthodontic-imaging-in-children-across-the-age-spectrum-and-correlations-with-obstructive-sleep-apnea
#32
JOURNAL ARTICLE
Gemma Tyler, Rita Machaalani, Karen A Waters
STUDY OBJECTIVES: To determine baseline facial convexity measurements in children with OSA, across the age spectrum. METHODS: Polysomnogram, stereophotogrammetry, and biometric data were collected from children aged 0-18 years who were being investigated for OSA. Analyses evaluated differences in facial convexity according to OSA severity and other sleep parameters, while adjusting for age, ethnicity and sex. RESULTS: 91 children, aged 0.05 to 16...
September 20, 2022: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://read.qxmd.com/read/36070886/orthodontic-treatment-in-a-patient-with-moebius-syndrome-a-case-report
#33
Sanghee Lee, Cheol-Hyun Moon
Moebius syndrome (MBS) is a congenital neurologic disorder that causes cranio-facial abnormalities. It involves paralysis of the VI and VII cranial nerves and causes bilateral or unilateral facial paralysis, eye movement disorder, and deformation of the upper and lower limbs. The orofacial dysfunctions include microstomia, micrognathia, hypotonic mimetic and lip muscles, dental enamel hypoplasia, tongue deformity, open bite or deep overbite, maxillary hypoplasia, high arched palate, mandibular hyperplasia or features indicating mandibular hypoplasia...
September 8, 2022: Korean Journal of Orthodontics
https://read.qxmd.com/read/35912443/are-children-with-cleft-palate-at-increased-risk-for-laryngeal-pathology
#34
JOURNAL ARTICLE
Robert Brinton Fujiki, Susan L Thibeault
To determine the prevalence of laryngeal pathology in children presenting with cleft palate with or without cleft lip (CP ± L) who underwent nasoendoscopy to assess palatal function. A secondary aim was to determine the relationship between patient demographics, resonance, articulation, and prevalence of laryngeal pathology in this population. Retrospective, observational cohort study. Outpatient pediatric cranio-facial anomalies clinic. Children ≤18 years of age presenting with CP ± L (N = 215) who underwent nasoendoscopy, speech language pathology, plastic surgery, and otolaryngological evaluations between 2009 and 2020...
August 1, 2022: Cleft Palate-craniofacial Journal
https://read.qxmd.com/read/35884111/surgical-antimicrobial-prophylaxis-in-neonates-and-children-undergoing-neurosurgery-a-rand-ucla-appropriateness-method-consensus-study
#35
JOURNAL ARTICLE
Susanna Esposito, Mino Zucchelli, Sonia Bianchini, Laura Nicoletti, Sara Monaco, Erika Rigotti, Laura Venditto, Cinzia Auriti, Caterina Caminiti, Elio Castagnola, Giorgio Conti, Maia De Luca, Daniele Donà, Luisa Galli, Silvia Garazzino, Stefania La Grutta, Laura Lancella, Mario Lima, Giuseppe Maglietta, Gloria Pelizzo, Nicola Petrosillo, Giorgio Piacentini, Simone Pizzi, Alessandro Simonini, Simonetta Tesoro, Elisabetta Venturini, Fabio Mosca, Annamaria Staiano, Nicola Principi, On Behalf Of The Peri-Operative Prophylaxis In Neonatal And Paediatric Age Pop-NeoPed Study Group
Pediatric neurosurgery is a highly specialized branch of surgery in which surgical site infections (SSIs) are potentially serious complications that can also adversely affect a good surgical outcome, compromising functional recovery and, in some cases, even putting the patient's life at risk. The main aim of this consensus document is to provide clinicians with a series of recommendations on antimicrobial prophylaxis for neonates and children undergoing neurosurgery. The following scenarios were considered: (1) craniotomy or cranial/cranio-facial approach to craniosynostosis; (2) neurosurgery with a trans-nasal-trans-sphenoidal approach; (3) non-penetrating head injuries; (4) penetrating head fracture; (5) spinal surgery (extradural and intradural); (6) shunt surgery or neuroendoscopy; (7) neuroendovascular procedures...
June 26, 2022: Antibiotics
https://read.qxmd.com/read/35861040/cfdp1-promotes-hepatocellular-carcinoma-progression-through-activating-nedd4-pten-pi3k-akt-signaling-pathway
#36
JOURNAL ARTICLE
Yan Zhou, Jiannan Qiu, Siyuan Liu, Peng Wang, Ding Ma, Guang Zhang, Yin Cao, Lili Hu, Zhongxia Wang, Junhua Wu, Chunping Jiang
BACKGROUND AND AIMS: It is being increasingly reported that the Cranio Facial Development Protein 1 (CFDP1) plays a significant role in the onset and progression of tumors. Nonetheless, the underlying mechanisms associated with CFDP1 that contribute to hepatocellular carcinoma (HCC) and the specific biological role of CFDP1 remain vague. METHODS: The Gene Expression Omnibus (GEO) database was analyzed to obtain the gene expression profiles as well as the matching clinical data of HCC patients...
July 21, 2022: Cancer Medicine
https://read.qxmd.com/read/35791155/tessier-cranio-facial-clefts-presenting-to-a-tertiary-eye-care-center-in-northern-india-ophthalmic-features-and-a-review-of-management
#37
REVIEW
Deepsekhar Das, Sujeeth Modaboyina, Sahil Agrawal, Neelam Pushker, Rachna Meel, Mandeep S Bajaj
Purpose: Tessier classification is used to classify congenital facial cleft disorders utilizing the anatomical location of the cleft and its extension. The orbital and ocular morbidities associated with the birth disorder are numerous. The authors decided to perform a retrospective analysis of the clinical features of the patients who presented to a tertiary care hospital with orbito-cranial clefts. Methods: The authors retrospectively evaluated the records of patients with craniofacial clefts who had presented to a tertiary eye care hospital in northern India in the last 2 years (January 2019-December 2020)...
July 2022: Indian Journal of Ophthalmology
https://read.qxmd.com/read/35753187/the-comparison-of-tone-and-viscoelastic-properties-of-superior-orbicularis-oris-muscle-in-multiple-sclerosis-patients-to-healthy-individuals
#38
JOURNAL ARTICLE
Begumhan Turhan, Tuba Maden, Çağtay Maden
BACKGROUND: The orbicularis oris muscle is an important muscle for oral perception in mouth and swallowing rehabilitation. The muscle can be affected in patients with multiple sclerosis for many reasons. It is important to understand the quantitative changes in this muscle to determine the many problems associated with the cranio-facial region in multiple sclerosis. Therefore, this study aimed to compare the mechanical properties of the orbicularis oris muscle between MS patients and healthy individuals...
September 2022: Multiple Sclerosis and related Disorders
https://read.qxmd.com/read/35573331/sex-gender-as-a-factor-that-influences-transcranial-magnetic-stimulation-treatment-outcome-three-potential-biological-explanations
#39
JOURNAL ARTICLE
Colleen A Hanlon, Daniel M McCalley
Repetitive transcranial magnetic stimulation (rTMS) is a non-invasive brain stimulation technique which is now being used in psychiatry clinics across the world as a therapeutic tool for a variety of neural-circuit based disorders (e.g., major depression, obsessive compulsive disorder, substance use disorders, post-traumatic stress disorder, headache, pain). The higher volume of use and publication of multiple large-scale clinical trials has provided researchers with a unique opportunity to retrospectively evaluate factors influencing TMS treatment responses in large samples of patients...
2022: Frontiers in Psychiatry
https://read.qxmd.com/read/35427807/a-second-individual-with-rhizomelic-spondyloepimetaphyseal-dysplasia-and-homozygous-variant-in-gnpnat1
#40
JOURNAL ARTICLE
Quentin Sabbagh, Fanny Alkar, Karine Patte, Olivier Prodhomme, Caroline Janel, Renaud Touraine, Claire Jeandel, David Geneviève
Spondyloepimetaphyseal dysplasias (SEMDs) belong to a clinically and genetically heterogeneous group of inherited skeletal disorders defined by a defect in the growth and shape of vertebrae, epiphyses and metaphyses. Rhizomelic SEMD is characterized by a disproportionate small stature caused by severe shortening and deformation of the limbs' proximal bones, with the cranio-facial sphere unaffected. We report a second individual, an 8-year-old girl, with autosomal recessive rhizomelic SEMD associated with a homozygous exonic missense variant, c...
April 11, 2022: European Journal of Medical Genetics
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