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Plastic and Reconstructive Surgery.... Apr 2020Pfeiffer syndrome (PS) is a very rare condition with a wide clinical spectrum. There are only a few studies that address the classification and treatment of PS and take...
BACKGROUND
Pfeiffer syndrome (PS) is a very rare condition with a wide clinical spectrum. There are only a few studies that address the classification and treatment of PS and take into account the most commonly presented clinical features. Thus, the objectives of this study are to propose an algorithm for PS management based on a modified severity scale and correlate PS severity with tracheostomy placement.
METHODS
An observational retrospective study was performed on consecutive patients with PS (n = 12), who underwent surgery between 2008 and 2018. Clinical features and findings of all included patients with PS were classified as types A, B, and C, which guided treatment workflow. The Fisher test was used to correlate the severity of patients with PS with tracheostomy placement.
RESULTS
There were 12 patients, classified as type A (n = 3), type B (n = 6), and type C (n = 3). All patients who received tracheostomies (n = 6) were stratified into the severe category (n = 9; types B and C) ( < 0.05). There were 4 minor complications, and 1 major complication according to a modified Clavien-Dindo surgical complication scale.
CONCLUSION
A treatment algorithm based on the 3 different Pfeiffer types was proposed. Severity of PS statistically correlates to tracheostomy placement.
PubMed: 32440448
DOI: 10.1097/GOX.0000000000002788 -
Journal of Anatomy Nov 2005Normal and abnormal jaw growth and tooth eruption are topics of great importance for several dental and medical disciplines. Thus far, clinical studies on these topics... (Review)
Review
Normal and abnormal jaw growth and tooth eruption are topics of great importance for several dental and medical disciplines. Thus far, clinical studies on these topics have used two-dimensional (2D) radiographic techniques. The purpose of the present study was to analyse normal mandibular growth and tooth eruption in three dimensions based on computer tomography (CT) scans, extending the principles of mandibular growth analysis proposed by Björk in 1969 from two to three dimensions. As longitudinal CT data from normal children are not available (for ethical reasons), CT data from children with Apert syndrome were employed, because it has been shown that the mandible in Apert syndrome is unaffected by the malformation, and these children often have several craniofacial CT scans performed during childhood for planning of cranial and midface surgery and for follow-up after surgery. A total of 49 datasets from ten children with Apert syndrome were available for study. The number of datasets from each individual ranged from three to seven. The first CT scan in each of the ten series was carried out before 1 year of age, and the ages for the 49 scans ranged from 1 week to 14.5 years. The mandible and the teeth were segmented and iso-surfaces generated. Landmarks were placed on the surface of the mandible, along the mandibular canals, the inner contour of the cortical plate at the lower border of the symphysis menti, and on the teeth. Superimposition of the mandibles in the longitudinal series was performed using the symphysis menti and the mandibular canals as suggested by Björk. The study supported the findings of stability of the symphysis menti and the mandibular canals as seen in profile view previously reported by Björk & Skieller in 1983. However, the mandibular canals were, actually, relocated laterally during growth. Furthermore, the position of tooth buds remained relatively stable inside the jaw until root formation started. Eruption paths of canines and premolars were vertical, whereas molars erupted in a lingual direction. The 3D method would seem to offer new insight into jaw growth and tooth eruption, but further studies are needed.
Topics: Acrocephalosyndactylia; Adolescent; Bicuspid; Child; Child, Preschool; Cuspid; Female; Humans; Imaging, Three-Dimensional; Infant; Longitudinal Studies; Male; Mandible; Molar; Tomography, X-Ray Computed; Tooth Eruption
PubMed: 16313399
DOI: 10.1111/j.1469-7580.2005.00479.x -
Otolaryngologic Clinics of North America Dec 2000This article reviews a number of well-known syndromes involving craniofacial synostosis and associated midface deficiencies. Syndromes discussed include Apert's,... (Review)
Review
This article reviews a number of well-known syndromes involving craniofacial synostosis and associated midface deficiencies. Syndromes discussed include Apert's, Crouzon's, Saethre-Chotzen, and Carpenter's. Clinical characteristics and genetic defects are discussed. A general approach to surgical management is outlined.
Topics: Acrocephalosyndactylia; Adolescent; Craniosynostoses; Female; Humans; Infant, Newborn; Male; Prevalence; Plastic Surgery Procedures
PubMed: 11449786
DOI: 10.1016/s0030-6665(05)70280-2 -
Emerging Infectious Diseases Jun 2013It is 10 years since severe acute respiratory syndrome (SARS) emerged, and East and Southeast Asia retain a reputation as a hot spot of emerging infectious diseases. The... (Review)
Review
It is 10 years since severe acute respiratory syndrome (SARS) emerged, and East and Southeast Asia retain a reputation as a hot spot of emerging infectious diseases. The region is certainly a hot spot of socioeconomic and environmental change, and although some changes (e.g., urbanization and agricultural intensification) may reduce the probability of emerging infectious diseases, the effect of any individual emergence event may be increased by the greater concentration and connectivity of livestock, persons, and products. The region is now better able to detect and respond to emerging infectious diseases than it was a decade ago, but the tools and methods to produce sufficiently refined assessments of the risks of disease emergence are still lacking. Given the continued scale and pace of change in East and Southeast Asia, it is vital that capabilities for predicting, identifying, and controlling biologic threats do not stagnate as the memory of SARS fades.
Topics: Agriculture; Animals; Asia, Southeastern; Commerce; Communicable Diseases, Emerging; Ecosystem; Epidemiological Monitoring; Global Health; History, 21st Century; Humans; Livestock; Severe Acute Respiratory Syndrome; Travel; Urbanization
PubMed: 23738977
DOI: 10.3201/eid1906.121783 -
Developmental Medicine and Child... Jan 2021To assess the long-term outcomes of our management protocol for Saethre-Chotzen syndrome, which includes one-stage fronto-orbital advancement.
AIM
To assess the long-term outcomes of our management protocol for Saethre-Chotzen syndrome, which includes one-stage fronto-orbital advancement.
METHOD
All patients born with Saethre-Chotzen syndrome between January 1992 and March 2017 were included. Evaluated parameters included occipital frontal head circumference (OFC), fundoscopy, neuroimaging (ventricular size, tonsillar position, and the presence of collaterals/an abnormal transverse sinus), polysomnography, and ophthalmological outcomes. The relationship between papilledema and its associated risk factors was evaluated with Fisher's exact test.
RESULTS
Thirty-two patients (21 females, 11 males) were included. Median (SD) age at first surgery was 9.6 months (3.1mo) for patients who were primarily referred to our center (range: 3.6-13.0mo), the median (SD) age at last follow-up was 13 years (5y 7mo; range: 3-25y). Seven patients had papilledema preoperatively, which recurred in two. Two patients had papilledema solely after first surgery. Second cranial vault expansion was indicated in 20%. Thirteen patients had an OFC deflection, indicating restricted skull growth, one patient had ventriculomegaly, and none developed hydrocephalus. Eleven patients had emissary veins, while the transverse sinus was aberrant unilaterally in 13 (hypoplastic n=10 and absent n=3). Four patients had mild tonsillar descent, one of which was a Chiari type I malformation. Four patients had obstructive sleep apnoea (two mild, one moderate, and one severe). An aberrant transverse sinus was associated with papilledema (p=0.01).
INTERPRETATION
Single one-stage fronto-orbital advancement was sufficient to prevent intracranial hypertension for 80% of our patients with Saethre-Chotzen syndrome. Follow-up should focus on OFC deflection and venous anomalies.
Topics: Acrocephalosyndactylia; Adolescent; Adult; Child; Child, Preschool; Clinical Protocols; Computed Tomography Angiography; Female; Frontal Bone; Humans; Infant; Intracranial Hypertension; Longitudinal Studies; Magnetic Resonance Imaging; Male; Neuroimaging; Neurosurgical Procedures; Orbit; Outcome Assessment, Health Care; Tomography, Optical Coherence; Young Adult
PubMed: 32909287
DOI: 10.1111/dmcn.14670 -
BMC Musculoskeletal Disorders Nov 2020Apert syndrome is characterised by the presence of craniosynostosis, midface retrusion and syndactyly of hands and feet, thus, synonymously referred to as... (Review)
Review
BACKGROUND
Apert syndrome is characterised by the presence of craniosynostosis, midface retrusion and syndactyly of hands and feet, thus, synonymously referred to as acrocephalosyndactyly type I. Considering these multidisciplinary issues, frequently requiring surgical interventions at an early age, deformities of the feet have often been neglected and seem to be underestimated in the management of Apert syndrome. Typical Apert foot features range from complete fusion of the toes and a central nail mass to syndactyly of the second to fifth toe with a medially deviated great toe; however, no clear treatment algorithms were presented so far. This article reviews the current existing literature regarding the treatment approach of foot deformities in Apert syndrome.
STATE-OF-THE-ART TOPIC REVIEW
Overall, the main focus in the literature seems to be on the surgical approach to syndactyly separation of the toes and the management of the great toe deformity (hallux varus). Although the functional benefit of syndactyly separation in the foot has yet to be determined, some authors perform syndactyly separation usually in a staged procedure. Realignment of the great toe and first ray can be performed by multiple means including but not limited to second ray deletion, resection of the proximal phalanx delta bone on one side, corrective open wedge osteotomy, osteotomy of the osseous fusion between metatarsals I and II, and metatarsal I lengthening using gradual osteodistraction. Tarsal fusions and other anatomical variants may be present and have to be corrected on an individual basis. Shoe fitting problems are frequently mentioned as indication for surgery while insole support may be helpful to alleviate abnormal plantar pressures.
CONCLUSION
There is a particular need for multicenter studies to better elaborate surgical indications and treatment plans for this rare entity. Plantar pressure measurements using pedobarography should be enforced in order to document the biomechanical foot development and abnormalities during growth, and to help with indication setting. Treatment options may include conservative means (i.e. insoles, orthopedic shoes) or surgery to improve biomechanics and normalize plantar pressures.
LEVEL OF EVIDENCE
Level V.
Topics: Acrocephalosyndactylia; Foot Deformities; Hand; Humans; Metatarsal Bones; Osteotomy
PubMed: 33248465
DOI: 10.1186/s12891-020-03812-2 -
The Journal of Nutrition Mar 2008A high dietary fiber (DF) intake is emphasized in the recommendations of most diabetes and nutritional associations. It is accepted that viscous and gel-forming... (Review)
Review
A high dietary fiber (DF) intake is emphasized in the recommendations of most diabetes and nutritional associations. It is accepted that viscous and gel-forming properties of soluble DF inhibit macronutrient absorption, reduce postprandial glucose response, and beneficially influence certain blood lipids. Colonic fermentation of naturally available high fiber foods can also be mainly attributed to soluble DF, whereas no difference between soluble and insoluble DF consumption on the regulation of body weight has been observed. However, in prospective cohort studies, it is primarily insoluble cereal DF and whole grains, and not soluble DF, that is consistently associated with reduced diabetes risk, suggesting that further, unknown mechanisms are likely to be involved. Recent research indicates that DF consumption contributes to a number of unexpected metabolic effects independent from changes in body weight, which include improvement of insulin sensitivity, modulation of the secretion of certain gut hormones, and effects on various metabolic and inflammatory markers that are associated with the metabolic syndrome. In this review, we briefly summarize novel findings from recent interventions and prospective cohort studies. We discuss concepts and potential mechanisms that might contribute to the further understanding of the involved processes.
Topics: Diabetes Mellitus; Dietary Fiber; Energy Metabolism; Humans; Nutritional Physiological Phenomena
PubMed: 18287346
DOI: 10.1093/jn/138.3.439 -
The Laryngoscope Apr 2021To characterize tracheal cartilage morphology in mouse models of fibroblast growth factor receptor (Fgfr2)-related craniosynostosis syndromes. To establish relationships...
OBJECTIVES
To characterize tracheal cartilage morphology in mouse models of fibroblast growth factor receptor (Fgfr2)-related craniosynostosis syndromes. To establish relationships between specific Fgfr2 mutations and tracheal cartilaginous sleeve (TCS) phenotypes in these mouse models.
METHODS
Postnatal day 0 knock-in mouse lines with disease-specific genetic variations in the Fgfr2 gene (Fgfr2 , Fgfr2 , Fgfr2 , Fgfr2 , and Fgfr2 ) as well as line-specific controls were utilized. Tracheal cartilage morphology as measured by gross analyses, microcomputed tomography (μCT), and histopathology were compared using Chi-squared and single-factor analysis of variance statistical tests.
RESULTS
A greater proportion of rings per trachea were abnormal in Fgfr2 tracheas (63%) than Fgfr2 (17%), Fgfr2 (17%), Fgfr2 (12%), and controls (10%) (P < .001 for each vs. Fgfr2 ). TCS segments were found only in Fgfr2 (100%) and Fgfr2 (72%) tracheas. Cricoid and first-tracheal ring fusion was noted in all Fgfr2 and 94% of Fgfr2 samples. The Fgfr2 and Fgfr2 groups were found to have greater areas and volumes of cartilage than other lines on gross analysis and μCT. Histologic analyses confirmed TCS among the Fgfr2 and Fgfr2 groups, without appreciable differences in cartilage morphology, cell size, or density; no histologic differences were observed among other Fgfr2 lines compared to controls.
CONCLUSION
This study found TCS phenotypes only in the Fgfr2 mouse lines. These lines also had increased tracheal cartilage compared to other mutant lines and controls. These data support further study of the Fgfr2 mouse lines and the investigation of other Fgfr2 variants to better understand their role in tracheal development and TCS formation.
LEVEL OF EVIDENCE
NA Laryngoscope, 131:E1349-E1356, 2021.
Topics: Acanthosis Nigricans; Acrocephalosyndactylia; Animals; Cartilage; Craniofacial Dysostosis; Craniosynostoses; Disease Models, Animal; Ear; Genetic Association Studies; Humans; Mice; Mutation; Phenotype; Receptor, Fibroblast Growth Factor, Type 2; Scalp Dermatoses; Skin Abnormalities; Trachea; Tracheal Diseases; X-Ray Microtomography
PubMed: 32886384
DOI: 10.1002/lary.29060 -
Children (Basel, Switzerland) Apr 2022Fibroblast growth factor receptors (s) are expressed in epiphyseal cartilage cells of developing bones and regulate endochondral bone formation with interdependent...
Fibroblast growth factor receptors (s) are expressed in epiphyseal cartilage cells of developing bones and regulate endochondral bone formation with interdependent signaling pathways. Gene mutation in s disrupts the formation of endochondral bony structure by reducing the number of proliferating chondrocytes. Among the syndromes caused by mutation in the gene, Pfeiffer syndrome is a rare inherited disease characterized by acrocephalosyndactyly related to hypertelorism, broad pollex, and hallux. We describe the case of a 4-year-old girl with short stature, advanced bone age, wide thumbs and great toes. The patient was diagnosed with partial growth hormone deficiency and an identified mutation in the gene. Standard deviation score of her height increased after starting growth hormone therapy. This report will raise awareness of the growth hormone provocation test regardless of bone age in patients with short stature founded gene mutation.
PubMed: 35455591
DOI: 10.3390/children9040547 -
Current Medicinal Chemistry 2008Basic Helix-loop-Helix (bHLH) factors play a significant role in both development and disease. bHLH factors function as protein dimers where two bHLH factors compose an... (Review)
Review
Basic Helix-loop-Helix (bHLH) factors play a significant role in both development and disease. bHLH factors function as protein dimers where two bHLH factors compose an active transcriptional complex. In various species, the bHLH factor Twist has been shown to play critical roles in diverse developmental systems such as mesoderm formation, neurogenesis, myogenesis, and neural crest cell migration and differentiation. Pathologically, Twist1 is a master regulator of epithelial-to-mesenchymal transition (EMT) and is causative of the autosomal-dominant human disease Saethre Chotzen Syndrome (SCS). Given the wide spectrum of Twist1 expression in the developing embryo and the diverse roles it plays within these forming tissues, the question of how Twist1 fills some of these specific roles has been largely unanswered. Recent work has shown that Twist's biological function can be regulated by its partner choice within a given cell. Our work has identified a phosphoregulatory circuit where phosphorylation of key residues within the bHLH domain alters partner affinities for Twist1; and more recently, we show that the DNA binding affinity of the complexes that do form is affected in a cis-element dependent manner. Such perturbations are complex as they not only affect direct transcriptional programs of Twist1, but they indirectly affect the transcriptional outcomes of any bHLH factor that can dimerize with Twist1. Thus, the resulting lineage-restricted cell fate defects are a combination of loss-of-function and gain-of-function events. Relating the observed phenotypes of defective Twist function with this complex regulatory mechanism will add insight into our understanding of the critical functions of this complex transcription factor.
Topics: Acrocephalosyndactylia; Animals; Basic Helix-Loop-Helix Transcription Factors; DNA; Dimerization; Epithelial Cells; Extremities; Gene Expression Regulation, Developmental; Helix-Loop-Helix Motifs; Humans; Mesoderm; Mice; Molecular Sequence Data; Nuclear Proteins; Phenotype; Phosphorylation; Sequence Homology, Amino Acid; Twist-Related Protein 1
PubMed: 18855684
DOI: 10.2174/092986708785908987