scholarly journals General Anaesthesia in a Child with Larsen Syndrome

2003 ◽  
Vol 31 (2) ◽  
pp. 217-220 ◽  
Author(s):  
L. A. H. Critchley ◽  
L. Chan
Keyword(s):  
Cervical Spine ◽  
General Anaesthesia ◽  
Laparoscopic Hernia Repair ◽  
Connective Tissue Disorder ◽  
Facial Appearance ◽  
Respiratory Complications ◽  
Cervical Spine Instability ◽  
Larsen Syndrome ◽  
Potential Problems ◽  
Postoperative Respiratory Complications

Larsen syndrome is a rare congenital connective tissue disorder which is characterized by multiple dislocations of major joints, typical facial appearance, cervical spine narrowing and instability and respiratory difficulties secondary to laryngotracheomalacia. A case of general anaesthesia for laparoscopic hernia repair in a male child aged 16 months with this syndrome is presented. Anaesthesia was well tolerated though intubation proved difficult. Cervical spine instability and postoperative respiratory complications are potential problems.

scholarly journals Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data

Genes ◽  
2019 ◽  
Vol 10 (10) ◽  
pp. 764 ◽  
Author(s):  
Camerota ◽  
Ritelli ◽  
Wischmeijer ◽  
Majore ◽  
Cinquina ◽  
...  
Keyword(s):  
Cervical Spine ◽  
Connective Tissue ◽  
Spontaneous Pneumothorax ◽  
Age Of Onset ◽  
Phenotypic Variability ◽  
Connective Tissue Disorder ◽  
Cervical Spine Instability ◽  
Cutaneous Manifestations ◽  
Life Threatening ◽  
Arterial Aneurysms

Loeys-Dietz syndrome (LDS) is a connective tissue disorder first described in 2005 featuring aortic/arterial aneurysms, dissections, and tortuosity associated with craniofacial, osteoarticular, musculoskeletal, and cutaneous manifestations. Heterozygous mutations in 6 genes (TGFBR1/2, TGFB2/3, SMAD2/3), encoding components of the TGF-β pathway, cause LDS. Such genetic heterogeneity mirrors broad phenotypic variability with significant differences, especially in terms of the age of onset, penetrance, and severity of life-threatening vascular manifestations and multiorgan involvement, indicating the need to obtain genotype-to-phenotype correlations for personalized management and counseling. Herein, we report on a cohort of 34 LDS patients from 24 families all receiving a molecular diagnosis. Fifteen variants were novel, affecting the TGFBR1 (6), TGFBR2 (6), SMAD3 (2), and TGFB2 (1) genes. Clinical features were scored for each distinct gene and matched with literature data to strengthen genotype-phenotype correlations such as more severe vascular manifestations in TGFBR1/2-related LDS. Additional features included spontaneous pneumothorax in SMAD3-related LDS and cervical spine instability in TGFB2-related LDS. Our study broadens the clinical and molecular spectrum of LDS and indicates that a phenotypic continuum emerges as more patients are described, although genotype-phenotype correlations may still contribute to clinical management.

Postoperative respiratory complications

2016 ◽  
Vol 77 (4) ◽  
pp. C60-C64 ◽  
Author(s):  
Kirstie McPherson ◽  
Robert Stephens
Keyword(s):  
Respiratory Complications ◽  
Postoperative Respiratory Complications

Sarcopenia is a Predictor of Postoperative Respiratory Complications in Patients with Esophageal Cancer

2015 ◽  
Vol 22 (13) ◽  
pp. 4432-4437 ◽  
Author(s):  
Satoshi Ida ◽  
Masayuki Watanabe ◽  
Naoya Yoshida ◽  
Yoshifumi Baba ◽  
Naoki Umezaki ◽  
...  
Keyword(s):  
Esophageal Cancer ◽  
Respiratory Complications ◽  
Postoperative Respiratory Complications

Respiratory function changes after chemotherapy: an additional risk for postoperative respiratory complications?

2004 ◽  
Vol 77 (1) ◽  
pp. 260-265 ◽  
Author(s):  
Francesco Leo ◽  
Piergiorgio Solli ◽  
Lorenzo Spaggiari ◽  
Giulia Veronesi ◽  
Filippo de Braud ◽  
...  
Keyword(s):  
Respiratory Function ◽  
Respiratory Complications ◽  
Additional Risk ◽  
Postoperative Respiratory Complications
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