scholarly journals Anaesthetic Management in a Child with Cutis Laxa for Bilateral Ureteric Reimplantation

2021 ◽  
Author(s):  
Haripriya Ramachandran ◽  
Dammaningala Venkataramaiah Bhagya
Keyword(s):  
Heart Failure ◽  
Connective Tissue ◽  
Pulmonary Emphysema ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Preoperative Evaluation ◽  
Anaesthetic Management ◽  
Connective Tissue Disorder ◽  
Cutis Laxa ◽  
Facial Features

Cutis laxa is a rare congenital multisystem connective tissue disorder. Patients with cutis laxa can present with distinctive facial features, pulmonary emphysema and right-sided heart failure. Anaesthetic management is important because of difficult airway and respiratory/cardiac abnormalities. We have reported the preoperative evaluation and anaesthetic management of a child with Cutis laxa with right cleft lip and palate.

Paediatric and neonatal anaesthesia

2016 ◽  
Author(s):  
Simon Berg ◽  
Stewart Campbell
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Ductus Arteriosus ◽  
Fluid Management ◽  
Anaesthetic Techniques ◽  
Anaesthetic Management ◽  
Medical Problems ◽  
Nerve Blocks ◽  
Congenital Talipes Equinovarus ◽  
Talipes Equinovarus

This chapter discusses the anaesthetic management of the neonate, infant, and child. It begins with a description of neonatal physiology, then discusses fluid management, anaesthetic equipment, and the conduct of anaesthesia in children, including post-operative analgesia. Regional anaesthetic techniques in children are discussed, including caudal, epidural, spinal, and regional nerve blocks. Surgical procedures covered include repair of diaphragmatic hernia, gastroschisis/exomphalos, tracheo-oesophageal fistula, patent ductus arteriosus, pyloric stenosis, intussusception, herniotomy, penile circumcision, orchidopexy, hypospadias, cleft lip and palate, congenital talipes equinovarus, femoral osteotomy, and inhaled foreign body. It concludes with a discussion of paediatric medical problems, stabilization of the critically ill child, and paediatric sedation.

scholarly journals ANAESTHETIC MANAGEMENT OF A CASE OF MARFAN SYNDROME POSTED FOR BENTALL OPERATION: A CASE REPORT

2020 ◽  
pp. 1-3
Author(s):  
Parasmani Parasmani ◽  
Ankita Yadav ◽  
Mukesh Kumar
Keyword(s):  
Connective Tissue ◽  
Marfan Syndrome ◽  
Heart Valves ◽  
Composite Graft ◽  
Anaesthetic Management ◽  
Connective Tissue Disorder ◽  
Aortic Dilatation ◽  
Autosomal Dominant Trait ◽  
Bentall Operation ◽  
Bentall Procedure

Marfan syndrome is a connective tissue disorder that is inherited as an autosomal dominant trait. [3] These patients have tubular long bones giving ‘Abe Lincon’[3] appearance. Cardio-vasular anomalies are responsible for early deaths in patients of Marfan syndrome. Defective connective tissue in the aorta and heart valves can lead to aortic dilatation, dissection, rupture and prolapse of cardiac valves. [3] Bentall procedure is a type of cardiac surgery involving composite graft replacement of the aortic valve, aortic root and ascending aorta, with the re-implantation of the coronary arteries into the graft.

scholarly journals The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases

Genes ◽  
2020 ◽  
Vol 11 (4) ◽  
pp. 420 ◽  
Author(s):  
Camille Kumps ◽  
Belinda Campos-Xavier ◽  
Yvonne Hilhorst-Hofstee ◽  
Carlo Marcelis ◽  
Marius Kraenzlin ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Short Stature ◽  
Connective Tissue Disorder ◽  
Zinc Transporter ◽  
Facial Features ◽  
Transporter Gene ◽  
Ehlers Danlos Syndrome ◽  
Type 3 ◽  
Danlos Syndrome

Recessive loss-of-function variants in SLC39A13, a putative zinc transporter gene, were first associated with a connective tissue disorder that is now called “Ehlers–Danlos syndrome, spondylodysplastic form type 3” (SCD-EDS, OMIM 612350) in 2008. Nine individuals have been described. We describe here four additional affected individuals from three consanguineous families and the follow up of two of the original cases. In our series, cardinal findings included thin and finely wrinkled skin of the hands and feet, characteristic facial features with downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia, or oligodontia, and—in contrast to most types of Ehlers–Danlos syndrome—significant short stature of childhood onset. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature. Two of our patients developed severe keratoconus, and two suffered from cerebrovascular accidents in their twenties, suggesting that there may be a vascular component to this condition. All patients tested had a significantly reduced ratio of the two collagen-derived crosslink derivates, pyridinoline-to-deoxypyridinoline, in urine, suggesting that this simple test is diagnostically useful. Additionally, analysis of the facial features of affected individuals by DeepGestalt technology confirmed their specificity and may be sufficient to suggest the diagnosis directly. Given that the clinical presentation in childhood consists mainly of short stature and characteristic facial features, the differential diagnosis is not necessarily that of a connective tissue disorder and therefore, we propose that SLC39A13 is included in gene panels designed to address dysmorphism and short stature. This approach may result in more efficient diagnosis.

scholarly journals Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 510
Author(s):  
Maxim Verlee ◽  
Aude Beyens ◽  
Alper Gezdirici ◽  
Elif Yilmaz Gulec ◽  
Lore Pottie ◽  
...  
Keyword(s):  
Extracellular Matrix ◽  
Connective Tissue ◽  
Connective Tissue Disorder ◽  
Heterogeneous Group ◽  
Cutis Laxa ◽  
Loss Of Function ◽  
Pathogenic Variants ◽  
Genes Encoding ◽  
Hereditary Disorders ◽  
Musculoskeletal Systems

Hereditary disorders of connective tissue (HDCT) compromise a heterogeneous group of diseases caused by pathogenic variants in genes encoding different components of the extracellular matrix and characterized by pleiotropic manifestations, mainly affecting the cutaneous, cardiovascular, and musculoskeletal systems. We report the case of a 9-year-old boy with a discernible connective tissue disorder characterized by cutis laxa (CL) and multiple herniations and caused by biallelic loss-of-function variants in EFEMP1. Hence, we identified EFEMP1 as a novel disease-causing gene in the CL spectrum, differentiating it from other HDCT.

Characteristics of Neuropeptide-Containing Innervation, Tissue Remodeling, Growth, and Vascularity in Noses of Patients With Cleft Lip and Palate

2020 ◽  
Vol 57 (8) ◽  
pp. 948-956
Author(s):  
Evija Balode ◽  
Mara Pilmane
Keyword(s):  
Growth Factor ◽  
Connective Tissue ◽  
Cleft Lip ◽  
Transforming Growth Factor ◽  
Cleft Lip And Palate ◽  
Transforming Growth Factor Β1 ◽  
Nerve Fibers ◽  
Strong Positive Correlation ◽  
Pgp 9.5 ◽  
Affected Tissue

Objective: To detect the appearance and distribution of factors regulating remodeling, innervation, growth, and vascularity of the nasal tissue affected by cleft lip and palate (CLP). Design: Morphological analysis of human tissue. Setting: Cleft and craniofacial center. Participants: Fifteen patients who underwent CLP rhinoplasty, 7 control patients. Interventions: Rhinoplasty. Main Outcome Measures: Immunohistochemistry was performed with protein gene product (PGP) 9.5, transforming growth factor β1 (TGFβ1), vascular endothelial growth factor (VEGF), cluster of differentiation 34 (CD34), matrix metalloproteinase 2 (MMP2), MMP9, and tissue inhibitor of metalloproteinase 2 (TIMP2). The results were evaluated semiquantitatively. Spearman rank order correlation coefficient and Mann-Whitney U test were used for statistical analysis. Results: Cleft lip and palate–affected tissue revealed dense and loose connective tissue, adipose cells, and hyaline cartilage, along with numerous CD34-positive endotheliocytes and regions of VEGF-positive neoangiogenesis. We observed moderate to numerous PGP 9.5-positive nerve fibers. Transforming growth factor β1, MMP2, MMP9, and TIMP2 were found in cartilage and connective tissue. Cleft lip and palate–affected tissue compared to control samples showed a statistically significant difference in PGP 9.5 ( P = .006), VEGF ( P = .001), MMP2 ( P = .002), MMP9 ( P = .013), and TIMP2 ( P < .001) expression. We observed a strong, positive correlation between VEGF and MMP9 ( P = .027; r S = 0.705). Conclusions: The moderate expression of TGFβ1 and increased distribution of VEGF, MMP2, MMP9, and TIMP2 demonstrate an active extracellular matrix remodeling and angiogenesis, performed by proteases. The cartilaginous septum of the nose is an example of balance between tissue degradation and its suppression, demonstrated by the relationship between MMPs and TIMPs and the presence of VEGF.

scholarly journals Lay People Esthetic Evaluation of Primary Surgical Repair on Three-Dimensional Images of Cleft Lip and Palate Patients

Medicina ◽  
2019 ◽  
Vol 55 (9) ◽  
pp. 576 ◽  
Author(s):  
Edoardo Staderini ◽  
Marilisa De Luca ◽  
Ettore Candida ◽  
Maria Ida Rizzo ◽  
Oriana Rajabtork Zadeh ◽  
...  
Keyword(s):  
Gender Differences ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Intraclass Correlation ◽  
Three Dimensional ◽  
3D Models ◽  
Facial Features ◽  
Soft Tissue Reconstruction ◽  
Three Dimensional Images ◽  
Assessment Bias

Background and Objectives: Previous literature has disclosed that facial attractiveness affects the esthetic evaluation of nose and lip deformity on frontal and lateral photographs. However, it has never been debated if the removal of the external facial features on three-dimensional (3D) models (“cropped assessment bias”) could provide a considerable usefulness in the interpretation and comparison of the results. Additionally, it has been assumed on two-dimensional (2D) studies that esthetic assessment biases with respect to observer gender, and it is not acknowledged if and to the extent that “gender assessment bias” may be influenced by a three-dimensional layout. The aim of this study is to investigate if facial traits and observers’ gender may affect the esthetic ratings of unilateral cleft lip and palate (UCLP) patients after soft tissue reconstruction. Materials and Methods: Three-dimensional images of ten UCLP patients’ images were acquired before the intervention (T0), one-month (T1) and six-months (T2) postoperative. Geomagic® software (version 2014; 3D Systems, Rock Hill, SC, USA) was used to remove the external facial features of 3D surface models. Five-point scale developed by Asher-McDade et al. was used to rate both nasolabial attractiveness and impairment for full-face (FF) and cropped-face (CF) 3D images. Forty-three judges (21 males, 22 females) were enrolled for the esthetic evaluation. Intraclass correlation coefficient (ICC) was used to test intra- and inter-examiner reliability; a value of 0.7 was set as the minimum acceptable level of reliability. Results: When comparing the 2 sets of observations (FF and CF), the ICC ranged from 0.654 to 0.823. Concerning gender assessment bias, the ICC ranged from 0.438 to 0.686 and from 0.722 to 0.788 for males and females, respectively. Concerning inter-examiner reliability, ICC for questions 2–7 ranged from 0.448 to 0.644 and from 0.659 to 0.817 at T0 and T2, respectively. Conclusions: The removal of external facial features provides subtle differences on the esthetic assessment of UCLP patients. Moreover, based on our data, examiners’ gender differences may affect esthetic assessment of UCLP patients. Despite the subjectivity of esthetic judgments, a reliable, validated and reproducible scoring protocol should consider the influence of gender differences on 3D esthetic assessment of UCLP patients.

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