Consideraciones anestésicas en el manejo perioperatorio del paciente con síndrome de Jarcho-Levin / Anesthetic considerations in the perioperative management of the patient with Jarcho-Levin syndrome

El síndrome de Jarcho-Levin es un epónimo usado para describir un espectro de displasias esqueléticas de tórax pequeño con el compromiso variable de vertebras y costillas. Inicialmente considerado letal, actualmente es compatible con la vida en sus presentaciones más leves. Las alteraciones óseas que conllevan un patrón respiratorio restrictivo, las infecciones respiratorias de repetición y el fenotipo particular pueden dificultar el manejo anestésico perioperatorio. Es de especial interés la adecuada valoración de la vía aérea por presentar predictores de vía aérea difícil, así como la prevención, el diagnóstico precoz y el tratamiento adecuado de la insuficiencia respiratoria. Presentamos el caso de un paciente con síndrome de Jarcho-Levin intervenido de distracción vertebral, con sus implicaciones más destacables en el manejo anestésico.(AU)

Jarcho-Levin syndrome is an eponym used to describe a spectrum of small thoracic skeletal dysplasias with variable involvement of vertebrae and ribs. Initially considered lethal, it is currently compatible with life in its mildest forms. Bone alterations that lead to a restrictive respiratory pattern, recurrent respiratory infections and particular phenotype can make perioperative anesthetic management difficult. The proper assessment of the airway is of special interest because it presents predictors of a difficult airway, as well as the prevention, early diagnosis and adequate treatment of respiratory failure. We present the case of a patient with Jarcho-Levin syndrome who underwent vertebral distraction surgery, with its most notable implications in anesthetic management.(AU)

[Reconstructive surgery for congenital malformations of breast and thorax"Changing the life"]. / Chirurgie réparatrice des malformations congénitales du sein et du thorax "Changer la vie".

The life of young girls and boys with congenital breast and thoracic malformations is more a matter of survival than of living, burdened by severe body image damage. Positively changing their lives is what these girls or young men are calling us to do. Our duty is certainly to understand their malformation, but also to understand its repercussions and thus to draw the most appropriate treatment. It is in this perspective that this report should be read.

Retrospective study on the incidence of cats and dogs' spinal injuries by computed tomographic scan. Part I: Cervical and Cervicothoracic / Estudo retrospectivo sobre incidência de injúrias em coluna vertebral de cães e gatos por meio de exame tomográfico. Parte I: Cervical e Cervicotorácica

Injuries involving the spine are frequent in dogs and knowledge of them is important to define the patient's treatment and prognosis. The objective of this retrospective study was to describe the epidemiological profile of animals and lesions in the cervical (C1-5) and cervicothoracic (C6-T2) spine diagnosed through tomographic examination. Compilation of computed tomography (CT) reports for the referred regions was carried out in a diagnostic center between 01/04/2017 and 30/04/2020, with or without contrast, from the clinical routine, in order to relate the most common lesions and their locations, as well as the species, breeds and ages most affected. A total of 1164 CT scans were performed in the period, 57.56% (n=670/1164) for the spine, with 89.7% (n=601/670) reports accessed, where both regions referred to here totaled 26.95% of the studies (n=162/601). Male mixed-breed dogs (MBD) showed the most lesions. For the cervical spine, the most identified lesion was disk extrusion and the site was C3-C4, while the mean age for lesions was 8.09±3.55 years. As for cervicothoracic, disk mineralization was more frequent and the mean age for lesions was 6.96±2.93 years. It was concluded that the spine is the main target of CT scans, that lesions related to the intervertebral disk were the main ones identified, and older MBD animals are the main ones affected.

As lesões envolvendo coluna vertebral são frequentes em animais de companhia, podendo ocorrer à nível vertebral, medula espinal, disco intervertebral, meninges ou raízes nervosas, e o conhecimento das mesmas é importante para definir o tratamento e prognóstico do animal. O objetivo desse estudo retrospectivo foi descrever o perfil epidemiológico dos animais e das lesões em coluna vertebral cervical (C1-5) e cervicotorácica (C6-T2) diagnosticadas por meio de exame tomográfico. Realizou-se a compilação de laudos de tomografias computadorizadas para as referidas regiões realizadas em centro diagnóstico comercial, entre 01/04/2017 a 30/04/2020, contrastadas e não-contrastadas, provenientes da rotina clínica, a fim de relacionar as lesões, raças e locais mais comuns. Foram realizados 1164 exames tomográficos no período avaliado, sendo 57,56% (n=670/1164) para a coluna, com 89,7% dos laudos acessados (n=601/670), sendo que as regiões cervical e cervicotorácica somaram 26,95% dos estudos (n=162/601). Em ambas regiões, os cães sem raça definida (SRD) machos foram os que mais demonstraram lesões. Para a coluna cervical, a lesão mais identificada foi extrusão de disco e o local mais afetado foi C3-C4, enquanto a média de idade para lesões foi 8,09±3,55 anos. Já para cervicotorácica, a mineralização de disco foi mais frequente e média de idade para ocorrência de lesões foi de 6,96±2,93 anos. Concluiu-se que a coluna vertebral foi o principal alvo de tomografias, as lesões relacionadas ao disco intervertebral foram as mais identificadas, sendo animais SRD com idade avançada os mais acometidos.

Chest conformation spuriously influences strain parameters of myocardial contractile function in healthy pregnant women.

AIMS: Left ventricular (LV) contractility during noncomplicated pregnancy has been previously investigated by two-dimensional speckle-tracking echocardiography (2D-STE), with conflicting results. Chest abnormalities might affect myocardial strain parameters, yet this issue has not been previously investigated during pregnancy. We evaluated the influence of chest conformation on myocardial strain parameters in healthy pregnant women. METHODS: Between October 2019 and February 2020, 50 healthy pregnant women (32.3 ±â€Š4.0 years old) were consecutively studied. They underwent obstetric visit, assessment of chest shape by modified Haller index (MHI; chest transverse diameter over the distance between sternum and spine) and transthoracic echocardiography implemented with 2D-STE analysis of all myocardial strain parameters in the first trimester (12-14 weeks), third trimester (36-38 weeks) and 6-9 weeks after delivery. RESULTS: LV ejection fraction remained substantially unchanged (P = 0.13), while on the average all myocardial strain parameters showed a small but significant decrease during pregnancy, and recovered postpartum (all P < 0.001). Women with concave-shaped chest wall (MHI > 2.5, n = 29), and those with normal chest conformation (MHI ≤ 2.5, n = 21) were then separately analyzed. Pregnant women with MHI above 2.5, but not those with MHI 2.5 or less, showed a progressive but reversible decrease in all myocardial strain parameters (all P < 0.001). MHI was strongly correlated with LV global longitudinal strain (r = -0.87) and LV global circumferential strain (r = -0.83) in the third trimester of pregnancy. CONCLUSION: Myocardial strain impairment during healthy pregnancy may not reflect intrinsic myocardial dysfunction but rather intraventricular dyssynchrony related to a narrow antero-posterior chest diameter and rise in the diaphragm, with consequent extrinsic myocardial compression.

Cardiothoracic imaging findings of Proteus syndrome.

In this work, we sought to delineate the prevalence of cardiothoracic imaging findings of Proteus syndrome in a large cohort at our institution. Of 53 individuals with a confirmed diagnosis of Proteus syndrome at our institution from 10/2001 to 10/2019, 38 individuals (men, n = 23; average age = 24 years) underwent cardiothoracic imaging (routine chest CT, CT pulmonary angiography and/or cardiac MRI). All studies were retrospectively and independently reviewed by two fellowship-trained cardiothoracic readers. Disagreements were resolved by consensus. Differences between variables were analyzed via parametric and nonparametric tests based on the normality of the distribution. The cardiothoracic findings of Proteus syndrome were diverse, but several were much more common and included: scoliosis from bony overgrowth (94%), pulmonary venous dilation (62%), band-like areas of lung scarring (56%), and hyperlucent lung parenchyma (50%). In addition, of 20 individuals who underwent cardiac MRI, 9/20 (45%) had intramyocardial fat, mostly involving the endocardial surface of the left ventricular septal wall. There was no statistically significant difference among the functional cardiac parameters between individuals with and without intramyocardial fat. Only one individual with intramyocardial fat had mildly decreased function (LVEF = 53%), while all others had normal ejection fraction.

Displasia torácica asfixiante / Suffocating thoracic dysplasia

El síndrome de Jeune o displasia torácica asfixiante es una enfermedad genética de herencia autosómica recesiva, que se caracteriza por presentar un fenotipo característico. El diagnóstico es clínico y radiológico. Se han descrito mutaciones en genes (IFT80, DYNC2H1, WDR19, IFT140 y TTC21B) que codifican proteínas de transporte intraflagelares responsables de la enfermedad

Jeune syndrome or suffocating thoracic dysplasia is a genetic disease with autosomal recessive inheritance, characterized by presenting a quirky phenotype. The diagnosis is clinical-radiological. Mutations in genes IFT80, DYNC2H1, WDR19, IFT140 and TTC21B that encode intraflagellar transport proteins responsible for the disease have been described

Reference range of fetal thorax using two-dimensional and three-dimensional ultrasound VOCAL technique and application in fetal thoracic malformations.

BACKGROUND: To establish the normal reference range of fetal thorax by two-dimensional (2D) and three-dimensional (3D) ultrasound VOCAL technique and evaluate the application in diagnosing fetal thoracic malformations. METHODS: A prospective cross-sectional study was undertaken involving 1077 women who have a normal singleton pregnancy at 13-40 weeks gestational age (GA). 2D ultrasound and 3D ultrasound VOCAL technique were utilized to assess fetal thoracic transverse diameter, thoracic anteroposterior diameter, thoracic circumference, thoracic area, lung volume, thoracic volume and lung-to-thoracic volume ratio. The nomograms of 2D and 3D fetal thoracic measurements were created to GA. 50 cases were randomly selected to calculate intra- and inter-observer reliability and agreement. In addition, the case groups including congenital skeletal dysplasia (SD) (15), congenital diaphragmatic hernia (CDH) (30), pulmonary sequestration (PS) (25) and congenital cystic adenomatoid malformation (CCAM) (36) were assessed by the nomograms and followed up subsequently. RESULTS: Both 2D and 3D fetal thoracic parameters increased with GA using a quadratic regression equation. The intra- and inter-observer reliability and agreement of each thoracic parameter were excellent. 2D fetal thoracic parameters could initially evaluate the fetal thoracic development and diagnose the skeletal thoracic deformity, and lung volume, thoracic volume and lung-to-thorax volume ratio were practical to diagnose and differentiate CDH, PS and CCAM. CONCLUSION: We have established the normal fetal thoracic reference range at 13-40 weeks, which has a high value in diagnosing congenital thoracic malformations.

Influence of chest conformation on myocardial strain parameters in healthy subjects with mitral valve prolapse.

Chest shape might affect myocardial strain parameters. However, the relationship between myocardial strain parameters and chest conformation has not been previously investigated in subjects with mitral valve prolapse (MVP). Between April 2019 and May 2020, 60 healthy subjects (50.1 ± 8.6 year/old, 46.6% females) with MVP and mild-to-moderate mitral regurgitation, and 60 controls matched by age, sex, and cardiovascular risk factors were consecutively studied. Participants underwent modified Haller index (MHI) assessment (ratio of chest transverse diameter over the distance between sternum and spine), and transthoracic echocardiography implemented with 2D-speckle tracking analysis. MHI was significantly greater in MVP group than controls (2.6 ± 0.35 vs 2.1 ± 0.23, p < 0.0001). Left ventricular (LV) ejection fraction was similar in MVP and controls (63.5 ± 3.7% vs 64.3 ± 3.9%, p = 0.25). LV regional and global longitudinal (GLS), circumferential (GCS) and radial strain (GRS) parameters and LV peak twist were all significantly lower in MVP compared to controls (all p < 0.0001). MVP subjects with a tight chest (MHI > 2.5, n = 30), and those with MHI ≤ 2.5 (n = 30) were then separately analyzed. A significant impairment in myocardial strain parameters and LV peak twist was documented in MVP subjects with MHI > 2.5, but not in those with MHI ≤ 2.5. MHI showed a strong inverse correlation with LV-GLS (r = - 0.85), GCS (r = - 0.84), GRS (r = - 0.84) and LV peak twist (r = - 0.94). In MVP subjects, impairment of myocardial strain parameters is not due to intrinsic reduction of cardiac contractility function, but it appears to be related to the degree of chest deformity.

Body stalk anomalies in pig-Definition and classification.

The presence of body wall closing defects (abdominoschisis and thoracoabdominoschisis) in combination with other congenital malformations was studied in the pig (Sus scrofa domesticus). After clinical examination and literature review, body wall defects with multiple congenital anomalies in eight pigs were described, and classified using anatomical and embryological criteria. Several BSA presentations were identified and classified as follows: (a) BSA Type I: fetus with spinal and UC defects, thoracoabdominoschisis, anal atresia and/or other internal organs structural defects, and structural limb defects; (b) BSA Type II: fetus with spinal and UC defects, thoracoabdominoschisis, anal atresia and/or other internal organs structural defects, and nonstructural limb defects; (c) BSA Type III: fetus with spinal and UC defects, abdominoschisis, anal atresia and/or other internal organs structural defects, and structural limb defects; and (d) BSA Type IV: fetus with spinal and UC defects, abdominoschisis, anal atresia and/or other internal organs structural defects, and nonstructural limb defects. Two types of LBWC were differentiated: LBWC Type I: characterized by thoracoabdominoschisis and structural limb defects, and LBWC Type II: characterized by abdominoschisis and structural limb defects, corresponding to BSA type I and type III. This is the first report on BSA and LBWC in the pig.

Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations.

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by retinitis pigmentosa (RP), truncal obesity, cognitive impairment, hypogonadism in men, polydactyly, and renal abnormalities with severe renal dysfunction. Twenty-two causative genes have already been reported for this disorder. In this study, we identified two unrelated Japanese patients with clinical diagnoses of BBS associated with compound heterozygous SCLT1 mutation. Patient 1 was a 10-year-old girl, and patient 2 was a 22-year-old man. Both the patients showed severe renal dysfunction in childhood, RP, mild intellectual disability, short stature, and truncal obesity, without oral aberrations and polydactyly. Patient 2 also had hypogonadism. We identified two missense variants in SCLT1, c.[1218G > A] and [1631A > G], in both the patients by next-generation sequencing. Subsequent cDNA analysis revealed that c.1218G > A affected exon 14 skipping in SCLT1. To date, SCLT1 has been reported as the causative gene of oral-facial-digital syndrome type IX, and Senior-Løken syndrome. The phenotypes of both the present patients were compatible with BBS. These results highlight SCLT1 as an additional candidate for BBS phenotype in an autosomal recessive manner.

Incidence of congenital thoracic malformations detected by prenatal ultrasound.

BACKGROUND: The increased and earlier use of prenatal ultrasound has facilitated the detection of congenital thoracic malformations (CTMs). Our Pediatric Pulmonology Institute follows an increasing number of patients with CTMs. Thus, we aimed to evaluate and describe prenatal sonographic findings of CTM, and to estimate changes in detection rates of CTMs over a period of 16 years. METHODS: A retrospective, cross-section analysis of prenatal ultrasound (US) screening tests carried out in a large community-based clinic, comparing two periods: 2001-2007 and 2007-2017. RESULTS: A total of 34 716 prenatal US were performed at a median gestational age of 15.4 weeks (range, 11.6-23.9) and 15.7 weeks (range, 12-33.6) in 2001-2007 and 2007-2017, respectively. In 2001-2007, 12 016 prenatal US tests detected 19 CTMs, compared to 30 CTMs in 22 700 tests in 2007-2017. Detection rates did not change (1.58/1,000 in 2001-2007 versus 1.32/1,000 in 2007-2017, P = 0.64). The most common abnormality was congenital pleural effusion (CPE) (17 cases, 34.7%), followed by congenital pulmonary airway malformation) and congenital diaphragmatic hernia; 13 cases each, 26.5%. Twenty CTMs, mainly congenital diaphragmatic hernia and CPE, were associated with other fetal lesions. CONCLUSIONS: Congenital diaphragmatic hernia and CPE tend to appear with multiple lesions and warrant further attention. The incidence rates stayed stable when comparing the last decade to previous years. Thus, the increased referral of CTM can be attributed to an increase in the number of prenatal screening studies performed, rather than a true higher incidence.

Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1.

Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder that predisposes to the development of benign and malignant tumors. Classical skeletal abnormalities encompass sphenoid wing dysplasia, congenital bowing of the long bones and vertebral osteopathy associated with non-dystrophic or dystrophic scoliosis found in about 10% of NF1 patients. We report a 17-year-old boy affected by NF1 with extreme severe spinal and thoracic malformations affecting bone and lung tissues, including hypoplasia of the right lung, unilateral costal agenesis and severe dystrophic scoliosis characterized by association of hemivertebra, fusion of adjacent vertebral bodies and defective pedicles. At birth, he presented an acute respiratory distress requiring invasive ventilator support. The diagnosis of NF1 was confirmed at age 5 by the identification of a de novo heterozygous mutation c.4537C > T, p.Arg1513* in NF1. Trio-based Whole Exome Sequencing (WES) was performed to exclude coexistence of a second hit but no clearly other pathogenic variant has been identified. Until now, only one similar NF1 patient suffering from the same association of severe scoliosis and chest deformity leading to respiratory insufficiency was described. The severe prenatal NF1-related scoliosis could explain the lung abnormal development by absence of mechanical constraints. Severe Thoracic and Spinal Bone Abnormalities may be part of the NF1 bone phenotype and should be taken into account to allow adequate genetic counseling.

[Kagami-Ogata Syndrome: An Anomaly of the Ribs as a Pathognomonic Feature for the Clinical Diagnosis of an (epi)Genetic Syndrome]. / Das Kagami-Ogata-Syndrom: Eine Rippenanomalie als pathognomonisches Korrelat für die klinische Diagnose eines (epi)genetischen Syndroms.

Within 4 years (2014-2017), we genetically diagnosed 2 newborns with Kagami-Ogata syndrome (OMIM #608149). As fetuses they exhibited prenatal polyhydramnios and in 1 case hepatomegaly. After birth, the newborns suffered from respiratory distress. Typical phenotypic features, such as muscular hypotonia, a protruding philtrum, full cheeks and a depressed nasal bridge, were present. Chest X-rays revealed coat-hanger ribs and a bell-shaped thorax, suggestive of the entity. Kagami-Ogata syndrome is caused by an aberrant gene expression of chromosome 14 and was first described in 1991. Possible causes are paternal uniparental disomy of chromosome 14, epimutations and microdeletions. Approximately 70 cases have been reported in the literature, with 34 comprising the original cohort of M. Kagami and T. Ogata. The incidence of the disease is unknown. Patients often manifest a developmental delay and an intellectual disability, although in the meantime cases with milder clinical courses have been described. In the cohort of Kagami and Ogata 3 patients developed hepatoblastoma, which is a common feature in another imprinting disorder, namely the Beckwith-Wiedemann syndrome. Therefore, hepatoblastoma should be considered in follow-up examinations.

VACTERL association complicated with multiple airway abnormalities: A case report.

INTRODUCTION: VACTERL association is an acronym that includes vertebral anomalies (V), anal atresia (A), cardiac defects (C), tracheoesophageal fistula (TEF) or esophageal atresia (EA), renal anomalies (R), and limb defects (L). Airway anomalies have rarely been reported with VACTERL association. PATIENT CONCERNS: A 10-month-old boy who had been diagnosed with anal atresia and received surgical corrections soon after birth consulted our institution by complaining repeated cough and fever. DIAGNOSIS: Diagnosis of VACTERL association was finally made. Bronchoscopy and chest CT with computed tomography angiography confirmed multiple airway abnormalities including bridging bronchus, airway malacia, and complete tracheal rings. INTERVENTIONS: Supplemental oxygen was provided and antibiotics was initiated. OUTCOMES: The patient resolved gradually and was discharged 10 days later. The follow-up showed the patient has remained well just with mild psychomotor retardation. CONCLUSION: Multiple airway anomalies may be seen in VACTERL association. It is worthwhile to make special note for evaluating the tracheobronchial pulmonary system by chest CT and bronchoscopy, especially patients presenting with breathing anomalies.

Massive hiatus hernia associated with scoliosis in a female cadaver

Kyphoscoliosis is often associated with enlarged oesophageal hiatus. It is suggested that this spinal deformity leads to prolonged stretching of the diaphragm causing herniation of abdominal organs, particularly the stomach into the thorax. Such a hiatal hernia can compress thoracic viscera, produce symptoms like shortness of breath and intermittent pain after ingestion of food. This cadaveric report discusses a case of a giant, sliding-type of hiatal hernia accompanied by scoliosis with rightsided deviation of the thoracic aorta and smallsized left lung. All patients presenting gastrointestinal symptoms with coexistence of vertebral column anomalies should be evaluated for the occurrence of intra-thoracic stomach

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Clinical and molecular spectrum of CHOPS syndrome.

CHOPS syndrome is a multisystem disorder caused by missense mutations in AFF4. Previously, we reported three individuals whose primary phenotype included cognitive impairment and coarse facies, heart defects, obesity, pulmonary involvement, and short stature. This syndrome overlaps phenotypically with Cornelia de Lange syndrome, but presents distinct differences including facial features, pulmonary involvement, and obesity. Here, we provide clinical descriptions of an additional eight individuals with CHOPS syndrome, as well as neurocognitive analysis of three individuals. All 11 individuals presented with features reminiscent of Cornelia de Lange syndrome such as synophrys, upturned nasal tip, arched eyebrows, and long eyelashes. All 11 individuals had short stature and obesity. Congenital heart disease and pulmonary involvement were common, and those were seen in about 70% of individuals with CHOPS syndrome. Skeletal abnormalities are also common, and those include abnormal shape of vertebral bodies, hypoplastic long bones, and low bone mineral density. Our observation indicates that obesity, pulmonary involvement, skeletal findings are the most notable features distinguishing CHOPS syndrome from Cornelia de Lange syndrome. In fact, two out of eight of our newly identified patients were found to have AFF4 mutations by targeted AFF4 mutational analysis rather than exome sequencing. These phenotypic findings establish CHOPS syndrome as a distinct, clinically recognizable disorder. Additionally, we report three novel missense mutations causative for CHOPS syndrome that lie within the highly conserved, 14 amino acid sequence of the ALF homology domain of the AFF4 gene, emphasizing the critical functional role of this region in human development.

Microtia in a Chinese Specialty Clinic Population: Clinical Heterogeneity and Associated Congenital Anomalies.

BACKGROUND: Microtia is a congenital anomaly of the external ear that can appear in isolation or in association with other congenital anomalies. In this study, the authors identify the prevalence and phenotypes of associated congenital malformations in patients with microtia in a Chinese specialty clinic population. METHODS: Data were collected from 672 patients seen between December of 2014 and February of 2016 in the Department of Auricular Reconstruction at the Plastic Surgery Hospital of Peking Union Medical College. All patients were examined by trained clinicians and classified into one of three grades of microtia. Co-occurring congenital anomalies were detected and recorded. RESULTS: The majority of study participants were male patients (72 percent), and most participants had unilateral microtia (93 percent, 68 percent of whom had right-side microtia). Two hundred ninety-three patients (44 percent) had one or more associated anomalies. The most commonly occurring comorbid malformations were those of the ear, face, and neck (40 percent of all associated malformations); musculoskeletal system (35 percent); and cardiovascular system (11 percent). CONCLUSIONS: These data represent the first detailed and thematic study of microtia and associated congenital anomalies in a Chinese clinical population. Substantial clinical heterogeneity was observed, and the prevalence of comorbid congenital malformations was high. Future studies investigating congenital anomalies associated with microtia are needed to improve understanding of its cause.