The Bonebridge (BB) was the first active transcutaneous implantation system for bone conduction. The main indications are conductive or mixed hearing loss and single-sided deafness. Treacher-Collins syndrome (TCS) is a rare genetic disease that affects craniofacial development. The disorder results in deformations of facial structure including ear malformations, especially microtia and ear canal atresia. These patients suffer from conductive hearing loss. CT scans often show unfavorable temporal bone anatomy making placement of an implant difficult. For implantable hearing rehabilitation, patients may decide for conduction implants, such as a BAHA, a Ponto, a Vibrant Soundbridge, or a Bonebridge. In this case report, we present 2 patients with TCS implanted with the Bonebridge system, their audiological results, and quality of life.

• MeSH
• Prosthesis Implantation * methods   MeSH
• Bone Conduction MeSH
• Quality of Life MeSH
• Humans MeSH
• Mandibulofacial Dysostosis * complications   MeSH
• Hearing Loss, Conductive * surgery   etiology   rehabilitation   MeSH
• Hearing Aids * MeSH
• Treatment Outcome MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Case Reports MeSH

Úvod: Dědičné poruchy metabolismu (DPM) lipidů představují heterogenní skupinu více než 210 různých poruch syntézy, transportu či odbourávání lipoproteinů, mastných kyselin (MK), glycerolu, ketolátek, cholesterolu a komplexních lipidů. Materiál a metody: Diagnostika je závislá na klinickém podezření a indikaci biochemických, metabolických a molekulárních vyšetření, pouze šest poruch β-oxidace MK (FAOD) je součástí laboratorního novorozeneckého screeningu. Výsledky: Klinické projevy DPM lipidů jsou heterogenní a u řady poruch se mohou překrývat. Nejčastější je fami- liární autozomálně dominantní hypercholesterolemie (HeFH) s výskytem 1 : 250. Včasná diagnostika a léčba u dětí s HeFH je nezbytná pro vysoké riziko rozvoje aterosklerózy. Některé DPM lipidů se mohou projevit již embryonálně vrozenými vývojovými vadami, například mikrocefalie, syndaktylie a hypospadie u dětí se Smithovým–Lemliho–Opitzovým syndromem a endogenní poruchou syntézy cholesterolu či kraniofaciální dysmorfie a extrémní hypotonie u dětí se Zellwegerovým syndromem a poruchou peroxisomální biogeneze. Poruchy β-oxidace MK se projevují především v novorozeneckém nebo kojeneckém věku akutními atakami hypoketotických hypoglykemií, hepatomegalií, hepatopatií a kardiomyopatií nebo až později myopatií s epizodickými rhabdomyolýzami při hladovění, infektu nebo vyšší fyzické námaze. Poruchy peroxisomální oxidace MK s velmi dlouhým řetězcem se projeví leukodystrofií nebo myeloneuropatií a adrenální insuficiencí. Poruchy metabolismu lipoproteinů se závažnou hypertriacylglycerolemií s poruchou lipoproteinové lipázy (LPL) se mohou projevit akutní pankreatitidou. Poruchy lysosomálního metabolismu esterů cholesterolu a lipidů v komplexních molekulách (sfingolipidózy) způsobují s výjimkou Fabryho nemoci hepatosplenomegalii, hepatopatii a dyslipidemii. Závažnou klinickou problematikou u Gaucherovy nemoci je obrovská splenomegalie s trombocytopenií, u Niemannovy–Pickovy nemoci typu A, B intersticiální plicní postižení a neuropatie a u typu C porucha vertikálního pohledu a neuropsychiatrická symptomatologie. Fabryho nemoc se v dětství manifestuje angiokeratomy a akroparesteziemi. Závěr: Včasná diagnostika je nezbytná pro úspěšnou léčbu, která zahrnuje úpravu životosprávy a jídelníčku, vyšší pohybovou aktivitu a farmakoterapii u dětí s HeFH či frekventní výživu s přidáním nevařených škrobů u dětí s FAOD. Suplementace MCT oleji se používá u dětí s poruchou β-oxidace MK s dlouhým řetězcem a cholesterolu u poruch biosyntézy cholesterolu. U dětí se sfingolipidózami nebo poruchou metabolismu esterů cholesterolu se podává enzymová substituční terapie či substrát redukční terapie. Transplantace hematopoietických kmenových buněk je indikovaná u chlapců s rizikem rozvoje cerebrální formy X-vázané adrenoleukodystrofie.

Introduction: Inherited disorders of lipid metabolism (IMD) represent a heterogeneous group of >210 different disorders of synthesis, transport or degradation of lipoproteins, fatty acids (FA), glycerol, ketone body, cholesterol, and complex lipids. Material and methods: Diagnosis depends on clinical suspicion and indication of biochemical, metabolic, and molecular investigations, only six disorders of fatty acid oxidation deficiencies (FAOD) are part of the laboratory neonatal screening in the Czech Republic. Results: Clinical manifestations of IMD of lipid metabolism are heterogeneous and may overlap in many disorders. The most common is familial autosomal dominant hypercholesterolemia (HeFH) with an incidence of 1:250. Early diagnosis and treatment in children with HeFH is essential because of the high risk for development of atherosclerosis. Disorders of lipoprotein metabolism with severe hypertriacylglycerolaemia may manifest with acute life-threatening pancreatitis, especially in lipoprotein lipase deficiency. Some IMD of lipid metabolism may manifest in embryonic period resulting in developmental defects as microcephaly, syndactyly, and hypospadia in children with Smith-Lemli-Opitz syndrome or craniofacial dysmorphia and extreme hypotonia in children with Zellweger syndrome. Children with FAOD usually manifest in neonatal period or infancy by acute attacks of hypoketotic hypoglycaemia, hepatomegaly, hepatopathy and cardiomyopathy or later by myopathy with episodic rhabdomyolysis during prolong fasting, infection or increased physical exertion. Disorders of peroxisomal oxidation of very long-chain FA manifest as leukodystrophy or neuromyelopathy and adrenal insufficiency. Disorders of lysosomal metabolism of cholesterol esters and lipids in complex molecules (sphingolipidoses) cause hepatosplenomegaly, hepatopathy and dyslipidaemia, except for Fabry disease. Main clinical problems in Gaucher disease are splenomegaly, tromobocytopenia, and bone disease, in Niemann-Pick disease types A and B interstitial lung involvement and neuropathy, and in type C vertical supranuclear gaze palsy and neuropsychiatric symptomatology. Fabry disease manifests in childhood with angiokeratomas and acroparesthesia. Conclusion: Early diagnosis is essential for successful treatment. It involves change of lifestyle and low-fat diet in children with HeFH and LPL deficiency, frequent feeding supplemented with uncooked starches in FAOD, MCT oil supplementation in very long-chain FAOD and cholesterol supplementation in cholesterol synthesis disorders. Enzyme replacement therapy or substrate reduction therapy are used children with sphingolipidosis and impaired cholesterol ester metabolism. Hematopoietic stem cell transplantation is indicated in males at risk of the cerebral form of X-linked adrenoleukodystrophy.

• MeSH
• Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase MeSH
• Adrenoleukodystrophy diagnosis   physiopathology   pathology   therapy   MeSH
• Child MeSH
• Humans MeSH
• Lipoproteins metabolism   MeSH
• Peroxisomal Disorders classification   physiopathology   pathology   therapy   MeSH
• Lipid Metabolism Disorders * classification   physiopathology   therapy   congenital   MeSH
• Sphingolipids MeSH
• Smith-Lemli-Opitz Syndrome diagnosis   physiopathology   pathology   therapy   MeSH
• Metabolism, Inborn Errors * classification   physiopathology   pathology   therapy   MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Publication type
• Research Support, Non-U.S. Gov't MeSH
• Review MeSH

Caspase-12 is a molecule whose functions are still not well understood. Although its expression has been found in various tissues, specific roles have been described in only a few cases. These include the effect of caspase-12 on murine bone cell differentiation during craniofacial development. This work focused on the development of the limbs taking place through endochondral ossification, which precedes the formation of the cartilaginous growth plate. Caspase-12 was described here for the first time in growth plate chondrocytes during physiological development. Using pharmacological inhibition, caspase-12 was found to affect chondrogenesis. Limb-derived micromass cultures showed a significantly increased area of chondrogenic nodules after caspase-12 inhibition and there were changes in gene expression, the most significant of which was the reduction of Mmp9. These data point to potential new functions of caspase-12 in chondrogenesis.

• MeSH
• Cell Differentiation MeSH
• Chondrocytes * MeSH
• Chondrogenesis * physiology   MeSH
• Caspase Inhibitors pharmacology   MeSH
• Caspase 12 * metabolism   genetics   MeSH
• Cells, Cultured MeSH
• Matrix Metalloproteinase 9 metabolism   genetics   MeSH
• Mice MeSH
• Growth Plate growth & development   MeSH
• Gene Expression Regulation, Developmental MeSH
• Animals MeSH
• Check Tag
• Mice MeSH
• Animals MeSH
• Publication type
• Journal Article MeSH

Development of the craniofacies occurs in embryological intimacy with development of the brain and both show normal left-right asymmetries. While facial dysmorphology occurs to excess in psychotic illness, facial asymmetry has yet to be investigated as a putative index of brain asymmetry. Ninety-three subjects (49 controls, 22 schizophrenia, 22 bipolar disorder) received 3D laser surface imaging of the face. On geometric morphometric analysis with (x, y, z) visualisations of statistical models for facial asymmetries, in controls the upper face and periorbital region, which share embryological intimacy with the forebrain, showed marked asymmetries. Their geometry included: along the x-axis, rightward asymmetry in its dorsal-medial aspects and leftward asymmetry in its ventral-lateral aspects; along the z-axis, anterior protrusion in its right ventral-lateral aspect. In both schizophrenia and bipolar disorder these normal facial asymmetries were diminished, with residual retention of asymmetries in bipolar disorder. This geometry of normal facial asymmetries shows commonalities with that of normal frontal lobe asymmetries. These findings indicate a trans-diagnostic process that involves loss of facial asymmetries in both schizophrenia and bipolar disorder. Embryologically, they implicate loss of face-brain asymmetries across gestational weeks 7-14 in processes that involve genes previously associated with risk for schizophrenia.

• MeSH
• Facial Asymmetry * diagnostic imaging   pathology   MeSH
• Bipolar Disorder * diagnostic imaging   pathology   MeSH
• Adult MeSH
• Functional Laterality physiology   MeSH
• Middle Aged MeSH
• Humans MeSH
• Young Adult MeSH
• Brain diagnostic imaging   pathology   MeSH
• Face MeSH
• Psychotic Disorders diagnostic imaging   pathology   MeSH
• Schizophrenia * diagnostic imaging   pathology   MeSH
• Imaging, Three-Dimensional MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Young Adult MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH

Face transplantation is a viable reconstructive approach for severe craniofacial defects. Despite the evolution witnessed in the field, ethical aspects, clinical and psychosocial implications, public perception, and economic sustainability remain the subject of debate and unanswered questions. Furthermore, poor data reporting and sharing, the absence of standardized metrics for outcome evaluation, and the lack of consensus definitions of success and failure have hampered the development of a "transplantation culture" on a global scale. We completed a 2-round online modified Delphi process with 35 international face transplant stakeholders, including surgeons, clinicians, psychologists, psychiatrists, ethicists, policymakers, and researchers, with a representation of 10 of the 19 face transplant teams that had already performed the procedure and 73% of face transplants. Themes addressed included patient assessment and selection, indications, social support networks, clinical framework, surgical considerations, data on patient progress and outcomes, definitions of success and failure, public image and perception, and financial sustainability. The presented recommendations are the product of a shared commitment of face transplant teams to foster the development of face transplantation and are aimed at providing a gold standard of practice and policy.

• MeSH
• Delphi Technique MeSH
• Consensus MeSH
• Humans MeSH
• Facial Transplantation * methods   MeSH
• Vascularized Composite Allotransplantation * MeSH
• Research Design MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH

Face transplantation is a viable reconstructive approach for severe craniofacial defects. Despite the evolution witnessed in the field, ethical aspects, clinical and psychosocial implications, public perception, and economic sustainability remain the subject of debate and unanswered questions. Furthermore, poor data reporting and sharing, the absence of standardized metrics for outcome evaluation, and the lack of consensus definitions of success and failure have hampered the development of a "transplantation culture" on a global scale. We completed a 2-round online modified Delphi process with 35 international face transplant stakeholders, including surgeons, clinicians, psychologists, psychiatrists, ethicists, policymakers, and researchers, with a representation of 10 of the 19 face transplant teams that had already performed the procedure and 73% of face transplants. Themes addressed included patient assessment and selection, indications, social support networks, clinical framework, surgical considerations, data on patient progress and outcomes, definitions of success and failure, public image and perception, and financial sustainability. The presented recommendations are the product of a shared commitment of face transplant teams to foster the development of face transplantation and are aimed at providing a gold standard of practice and policy.

• MeSH
• Delphi Technique MeSH
• Consensus MeSH
• Humans MeSH
• Facial Transplantation * methods   MeSH
• Vascularized Composite Allotransplantation * MeSH
• Research Design MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH

Rozštěpové vady obličeje se řadí mezi nejčastější vrozené vývojové vady. Mají vliv na vzhled celého obličeje a zároveň funkční důsledky závislé na rozsahu rozštěpu. Terapie je vzhledem ke komplexnosti vady multidisciplinární, časově náročná a probíhá dlouhodobě, protože pacient s rozštěpovou vadou vyžaduje péči týmu odborníků od narození až do dospělosti. Autoři článku přináší v první části přehled etiologie, klasifikace, diagnostiky a základních principů multidisciplinární péče rozštěpových vad v České republice, které se v jednotlivých dílčích krocích mohou lišit dle zvyklostí jednotlivých pracovišť, základní postupy se však v principu neliší. V druhé části představují průběh perioperační péče o novorozence po rekonstrukci rozštěpu rtu a nosu v časném neonatálním období včetně charakteristiky souboru pacientů ošetřených ve FN Motol v období posledních 5 let.

Cleft facial defects are among the most common congenital craniofacial defects. They not only affect the appearance of the entire face, but also have multiple functional consequences depending on the extent of the cleft. Total clefts have a major impact on the newborn's ability to breastfeed by complicating adequate latching. They also affect the development of the upper jaw, speech and dentition, children are more prone to tooth decay and upper respiratory tract infections, and almost all affected patients show dysfunction of the Eustachian tube with the subsequent development of secretory otitis media. Due to the complexity of the cleft facial defects, therapy is usually multidisciplinary and time-consuming, as the patient requires care from birth to adulthood. In the first part, the authors of the article provide an overview of the etiology, classification, diagnosis and basic principles of multidisciplinary care for cleft defects in the Czech Republic. In the second part, they describe the course of perioperative care for newborns after reconstruction of a cleft facial defect in the early neonatal period, including the characteristics of the group of patients treated at the Motol University Hospital in the past 5 years.

• MeSH
• Stomatognathic System Abnormalities * diagnosis   etiology   classification   therapy   MeSH
• Humans MeSH
• Infant, Newborn MeSH
• Face * surgery   pathology   MeSH
• Orthognathic Surgical Procedures methods   statistics & numerical data   MeSH
• Perioperative Care methods   nursing   MeSH
• Patient Care Team MeSH
• Plastic Surgery Procedures methods   statistics & numerical data   MeSH
• Check Tag
• Humans MeSH
• Infant, Newborn MeSH
• Publication type
• Review MeSH

CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD) is associated with mutations in the CDK13 gene encoding transcription-regulating cyclin-dependent kinase 13 (CDK13). Here, we focused on the development of craniofacial structures and analyzed early embryonic stages in CHDFIDD mouse models, with one model comprising a hypomorphic mutation in Cdk13 and exhibiting cleft lip/palate, and another model comprising knockout of Cdk13, featuring a stronger phenotype including midfacial cleft. Cdk13 was found to be physiologically expressed at high levels in the mouse embryonic craniofacial structures, namely in the forebrain, nasal epithelium and maxillary mesenchyme. We also uncovered that Cdk13 deficiency leads to development of hypoplastic branches of the trigeminal nerve including the maxillary branch. Additionally, we detected significant changes in the expression levels of genes involved in neurogenesis (Ache, Dcx, Mef2c, Neurog1, Ntn1, Pou4f1) within the developing palatal shelves. These results, together with changes in the expression pattern of other key face-specific genes (Fgf8, Foxd1, Msx1, Meis2 and Shh) at early stages in Cdk13 mutant embryos, demonstrate a key role of CDK13 in the regulation of craniofacial morphogenesis.

• MeSH
• Cyclin-Dependent Kinases metabolism   genetics   MeSH
• Embryo, Mammalian metabolism   MeSH
• Embryonic Development * genetics   MeSH
• Phenotype MeSH
• Skull embryology   pathology   MeSH
• Intellectual Disability genetics   MeSH
• Disease Models, Animal * MeSH
• Mutation genetics   MeSH
• Mice MeSH
• Trigeminal Nerve embryology   MeSH
• Neurogenesis * genetics   MeSH
• Face embryology   abnormalities   MeSH
• Doublecortin Protein MeSH
• Cleft Palate genetics   pathology   embryology   MeSH
• Cleft Lip genetics   pathology   embryology   MeSH
• Gene Expression Regulation, Developmental * MeSH
• Animals MeSH
• Check Tag
• Mice MeSH
• Animals MeSH
• Publication type
• Journal Article MeSH

The chondrocranium provides the key initial support for the fetal brain, jaws and cranial sensory organs in all vertebrates. The patterns of shaping and growth of the chondrocranium set up species-specific development of the entire craniofacial complex. The 3D development of chondrocranium have been studied primarily in animal model organisms, such as mice or zebrafish. In comparison, very little is known about the full 3D human chondrocranium, except from drawings made by anatomists many decades ago. The knowledge of human-specific aspects of chondrocranial development are essential for understanding congenital craniofacial defects and human evolution. Here advanced microCT scanning was used that includes contrast enhancement to generate the first 3D atlas of the human fetal chondrocranium during the middle trimester (13 to 19 weeks). In addition, since cartilage and bone are both visible with the techniques used, the endochondral ossification of cranial base was mapped since this region is so critical for brain and jaw growth. The human 3D models are published as a scientific resource for human development.

• MeSH
• Cartilage diagnostic imaging   embryology   MeSH
• Skull diagnostic imaging   embryology   MeSH
• Humans MeSH
• Fetus diagnostic imaging   MeSH
• X-Ray Microtomography MeSH
• Pregnancy MeSH
• Imaging, Three-Dimensional * MeSH
• Check Tag
• Humans MeSH
• Pregnancy MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Dataset MeSH

Silk and silk derivatives have emerged as a possible alternative in surgical device development, offering mechanical strength, biocompatibility, and environmental sustainability. Through a systematic review following PRISMA guidelines, this study evaluated silk fibroin's application across pre-clinical and clinical settings, focusing on its role as screws and plates for osteofixation. A comprehensive search yielded 245 studies, with 33 subjected to full-text review and 15 ultimately included for qualitative analysis. The findings underscore silk fibroin's superior properties, including its tunable degradation rates and ability to be functionalized with therapeutic agents. In vivo and in vitro studies demonstrated its efficacy in enhancing bone healing, offering improved outcomes in osteofixation, particularly for craniofacial defects. Silk fibroin's remarkable attributes in biodegradation and drug release capabilities underscore its potential to enhance patient care. Ultimately, silk fibroin's integration into surgical practices promises a revolution in patient outcomes and environmental sustainability. Its versatility, coupled with the continuous progress in fabrication techniques, signals a promising horizon for its widespread acceptance in the medical field, potentially establishing a new benchmark in surgical treatment. Further research is expected to solidify the transition of silk products from basic science to patient care, paving the way for widespread use in various surgical applications.

• Publication type
• Journal Article MeSH
• Review MeSH