-
International Journal of Molecular... Mar 2021The nucleoli are membrane-less nuclear substructures that govern ribosome biogenesis and participate in multiple other cellular processes such as cell cycle progression,... (Review)
Review
The nucleoli are membrane-less nuclear substructures that govern ribosome biogenesis and participate in multiple other cellular processes such as cell cycle progression, stress sensing, and DNA damage response. The proper functioning of these organelles is ensured by specific proteins that maintain nucleolar structure and mediate key nucleolar activities. Among all nucleolar proteins, treacle encoded by gene emerges as one of the most crucial regulators of cellular processes. was initially discovered as a gene involved in the Treacher Collins syndrome, a rare genetic disorder characterized by severe craniofacial deformations. Later studies revealed that treacle regulates ribosome biogenesis, mitosis, proliferation, DNA damage response, and apoptosis. Importantly, several reports indicate that treacle is also involved in cancer development, progression, and response to therapies, and may contribute to other pathologies such as Hirschsprung disease. In this manuscript, we comprehensively review the structure, function, and the regulation of /treacle in physiological and pathological processes.
Topics: Cell Nucleolus; Homeostasis; Humans; Mandibulofacial Dysostosis; Nuclear Proteins; Phosphoproteins
PubMed: 33804586
DOI: 10.3390/ijms22052482 -
BMJ Case Reports Mar 2022The management of patients with Apert syndrome (AS) is complex and reflects the multisystem disease as a result of premature fusion of cranial vault, cranial base and...
The management of patients with Apert syndrome (AS) is complex and reflects the multisystem disease as a result of premature fusion of cranial vault, cranial base and midface sutures as well as extremity anomalies characterised by syndactyly. Early cranial sutural fusion results in craniocerebral disproportion which can lead to crisis surgical intervention due to raised intracranial pressure, ophthalmic and compromised airway concerns. Childhood inventions are often determined by psychosocial concerns and adult surgical interventions are often determined by cosmetic concerns. Treatments are provided by many different specialists within multidisciplinary teams (MDT). The treatment pathway extends from birth well into adulthood and is often associated with a heavy burden of care. Due to the extensive nature of the interaction with these patients MDT members have opportunities to provide enhanced patient-centred care and support.This case report provides an overview of the current knowledge of the aetiology of AS, illustrates the pathway of surgical and non-surgical management of AS and provides a long-term review of the dentofacial treatment outcomes.By having a better understanding of the impact of AS and treatment provided, MDT members can not only provide improved clinical treatment but also offer improved patient experiences for those with craniofacial anomalies, in particular, an increased awareness of the psychosocial challenges they endure.
Topics: Acrocephalosyndactylia; Adult; Child; Cranial Sutures; Craniofacial Abnormalities; Face; Humans; Skull Base
PubMed: 35236672
DOI: 10.1136/bcr-2021-245224 -
Hand (New York, N.Y.) Sep 2020Being one of the most common congenital hand malformations, syndactyly is repaired by orthopedic, plastic, and fellowship-trained general surgeons. Limited... (Review)
Review
Being one of the most common congenital hand malformations, syndactyly is repaired by orthopedic, plastic, and fellowship-trained general surgeons. Limited multi-institutional outcomes analyses regarding incidence, timing, and type of repair exist. All syndactyly cases performed over a 5-year period from 2012-2016 were isolated from the National Surgical Quality Improvement Program Pediatric database. Patient demographics, surgical factors, perioperative outcomes, and risk factors were analyzed using χ, Fisher exact, and -test analysis. A total of 956 patients who underwent syndactyly repair were identified. Most cases were simple syndactyly with nearly even case distribution among plastic and orthopedic surgeons. Most patients were men and Caucasian. Mean age at the time of surgery was 2.6 years. Most cases were performed as outpatient surgery. Patients of plastic surgeons had significantly more airway abnormalities and shorter operative times. Patients with complex syndactyly had significantly more ventilator dependence, tracheostomy, and comorbidities when compared with those with simple syndactyly. Cases with complex syndactyly also had longer operative times and a higher rate of superficial surgical site infections. Syndactyly repair is a safe procedure with few major or minor reconstructive complications regardless of the surgical specialty or syndactyly type. Patients with complex syndactyly have significantly more preoperative comorbidities with comparable outcomes. orthopedic surgeons have significantly longer operative times than plastic surgeons, likely due to caring for increased number of patients with complex syndactyly.
Topics: Child; Humans; Male; Quality Improvement; Plastic Surgery Procedures; Risk Factors; Surgeons; Syndactyly
PubMed: 30770023
DOI: 10.1177/1558944719828003 -
Science Progress 2023The purpose of this meta-analysis was to strengthen the credibility of primary research results by combining open-source scientific material, namely a comparison of... (Meta-Analysis)
Meta-Analysis Review
The purpose of this meta-analysis was to strengthen the credibility of primary research results by combining open-source scientific material, namely a comparison of craniofacial features (Cfc) between Crouzon's syndrome (CS) patients and non-CS populations. All articles published up to October 7, 2021, were included in the search of PubMed, Google Scholar, Scopus, Medline, and Web of Science. The PRISMA guidelines were followed to conduct this study. PECO framework was applied in the following ways: Those who have CS are denoted by the letter P, those who have been diagnosed with CS via clinical or genetic means by the letter E, those who do not have CS by the letter C, and those who have a Cfc of CS by the letter O. Independent reviewers collected the data and ranked the publications based on their adherence to the Newcastle-Ottawa Quality Assessment Scale. A total of six case-control studies were reviewed for this meta-analysis. Due to the large variation in cephalometric measures, only those published in at least two previous studies were included. This analysis found that CS patients had a smaller skull and mandible volumes than those without CS.in terms of SNA° (MD = -2.33, = <0.001, = 83.6%) and ANB°(MD = -1.89, = <0.005, = 93.1%)), as well as ANS (MD = -1.87, = 0.001, = 96.5%)) and SN/PP (MD = -1.99, = 0.036, = 77.3%)). In comparison to the general population, people with CS tend to have shorter and flatter cranial bases, smaller orbital volumes, and cleft palates. They differ from the general population in having a shorter skull base and more V-shaped maxillary arches.
Topics: Humans; Craniofacial Dysostosis; Case-Control Studies
PubMed: 36803068
DOI: 10.1177/00368504231156297 -
Orphanet Journal of Rare Diseases May 2022The formation of the digits is a tightly regulated process. During embryogenesis, disturbance of genetic pathways in limb development could result in syndactyly; a... (Review)
Review
The formation of the digits is a tightly regulated process. During embryogenesis, disturbance of genetic pathways in limb development could result in syndactyly; a common congenital malformation consisting of webbing in adjacent digits. Currently, there is a paucity of knowledge regarding the exact developmental mechanism leading to this condition. The best studied canonical interactions of Wingless-type-Bone Morphogenic Protein-Fibroblast Growth Factor (WNT-BMP-FGF8), plays a role in the interdigital cell death (ICD) which is thought to be repressed in human syndactyly. Animal studies have displayed other pathways such as the Notch signaling, metalloprotease and non-canonical WNT-Planar cell polarity (PCP), to also contribute to failure of ICD, although less prominence has been given. The current diagnosis is based on a clinical evaluation followed by radiography when indicated, and surgical release of digits at 6 months of age is recommended. This review discusses the interactions repressing ICD in syndactyly, and characterizes genes associated with non-syndromic and selected syndromes involving syndactyly, according to the best studied canonical WNT-BMP-FGF interactions in humans. Additionally, the controversies regarding the current syndactyly classification and the effect of non-coding elements are evaluated, which to our knowledge has not been previously highlighted. The aim of the review is to better understand the developmental process leading to this condition.
Topics: Animals; Extremities; Fibroblast Growth Factors; Humans; Signal Transduction; Syndactyly
PubMed: 35549993
DOI: 10.1186/s13023-022-02339-0 -
The Canadian Veterinary Journal = La... Aug 2017
Topics: Animals; Craniosynostoses; Dog Diseases; Dogs
PubMed: 28761181
DOI: No ID Found -
Cerebral Cortex (New York, N.Y. : 1991) Mar 2023Recent trio-based whole-exome sequencing studies of congenital hydrocephalus and nonsyndromic craniosynostosis have identified multiple novel disease genes that have...
Recent trio-based whole-exome sequencing studies of congenital hydrocephalus and nonsyndromic craniosynostosis have identified multiple novel disease genes that have illuminated the pathogenesis of these disorders and shed new insight into the genetic regulation of human brain and skull development. Continued study of these and other historically understudied developmental anomalies has the potential to replace the current antiquated, anatomically based disease classification systems with a molecular nomenclature that may increase precision for genetic counseling, prognostication, and surgical treatment stratification-including when not to operate. Data will also inform future clinical trials, catalyze the development of targeted therapies, and generate infrastructure and publicly available data sets relevant for other related nonsurgical neurodevelopmental and neuropsychiatric diseases.
Topics: Humans; Skull; Craniosynostoses; Forecasting; Molecular Biology
PubMed: 35739418
DOI: 10.1093/cercor/bhac249 -
Australian Journal of General Practice 2022The presentation of a child with an abnormal head shape can be challenging and should be met with an appropriate clinical approach. Craniosynostosis is a common cause of...
BACKGROUND
The presentation of a child with an abnormal head shape can be challenging and should be met with an appropriate clinical approach. Craniosynostosis is a common cause of paediatric skull deformity and is best managed by a multispecialty tertiary referral unit with regular follow-up. As craniosynostosis frequently requires time-sensitive surgery, it is important to differentiate between craniosynostosis and common self-limiting conditions such as deformational plagiocephaly.
OBJECTIVE
The aim of this article is to outline the clinical approach to paediatric skull deformity in the general practice setting, and to highlight the importance of early referral if there is clinical suspicion of craniosynostosis.
DISCUSSION
Parental concern regarding infant head shape is common. General practitioners (GPs) have an important role in assessment, diagnosis and referral for paediatric skull deformities. GPs are well placed to clinically differentiate between deformational plagiocephaly and craniosynostosis and provide timely referrals to optimise patient outcomes.
Topics: Child; Craniosynostoses; Diagnosis, Differential; Humans; Infant
PubMed: 35098275
DOI: 10.31128/AJGP-09-20-5638 -
Neurologia Medico-chirurgica May 2017The purposes of surgery for craniosynostosis are to release increased intracranial pressure and to normalize cranial shape. The procedure was developed from a simple... (Review)
Review
The purposes of surgery for craniosynostosis are to release increased intracranial pressure and to normalize cranial shape. The procedure was developed from a simple strip craniectomy in practice which ranged from the removal of the fused suture before the 1960s to total calvarial remodeling after 1970s and later methods of the 1990s, such as distraction and its modifications. According to its history, craniofacial surgeons might be changing their procedures with more effective, than less invasive ways. Since the late 1990s, when the distraction was applied to the craniofacial surgery, the gradual expansion, in particular of the anterior cranium, common in Japan, has long been controversial until the Caucasians accepted its use for the posterior cranium. Currently, the method may revert to the old procedure because a more sophisticated and better morphological result can be obtained depending on the types of deformity, even if a little more invasive maneuver is required. In other words, if treatment can be performed in optimal time, the procedures that were developed in the last half a century should be altered to each condition.
Topics: Craniosynostoses; Humans
PubMed: 28413181
DOI: 10.2176/nmc.ra.2017-0006 -
Orthodontics & Craniofacial Research Feb 2023To analyse the prevalence and distribution of craniofacial microsomia (CFM) cases in Finland and their most frequent comorbidities. The second aim was to analyse the...
OBJECTIVES
To analyse the prevalence and distribution of craniofacial microsomia (CFM) cases in Finland and their most frequent comorbidities. The second aim was to analyse the patients' need for specialized healthcare services.
MATERIALS AND METHODS
Data were gathered from two complementary registers: The Register of Congenital Malformations and the Care Register for Social Welfare and Health Care (Hilmo) of the Finnish Institute for Health and Welfare (THL).
RESULTS
The prevalence of CFM patients in Finland was 1:10 057. They were evenly distributed across the five university hospital districts. Their most frequently used ICD-10 diagnosis codes were F40-48 (Neurotic, stress-related and somatoform disorders), 60% of patients in adolescent and adult psychiatry; Q67.0 (Facial asymmetry), 43% in plastic surgery; Z00.4 (General psychiatric examination, not elsewhere classified), 31% in child psychiatry; Z31.5 (Genetic counselling), 28% in clinical genetics and Q67.40 (Other congenital deformities of the skull, face and jaw, Hemifacial atrophy), 18% in dental, oral and maxillofacial diseases. Of the patients, 70% had had visits in clinical genetics, 60% in plastic surgery, 41% in dental, oral and maxillofacial diseases, 28% in adolescent/adult psychiatry and 21% in child psychiatry. The majority of the patients' plastic surgery visits were concentrated in one university hospital. Other services were mainly provided by patients' own hospital districts.
CONCLUSIONS
Even though the majority of CFM patients' visits in specialized healthcare services are related to correction of facial asymmetry and ear malformations, the obvious need for psychiatric care was apparent in all age groups.
Topics: Child; Adult; Adolescent; Humans; Goldenhar Syndrome; Facial Asymmetry; Skull; Delivery of Health Care; Prevalence
PubMed: 35689427
DOI: 10.1111/ocr.12592