An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry.

BACKGROUND: Growth retardation is one of the main hallmarks of CHARGE syndrome (CS), yet little is known about the body proportions of these children. Knowledge of body proportions in CS may contribute to a better characterization of this syndrome. This knowledge is important when considering starting growth-stimulating therapy. METHODS: For this cross-sectional study, we selected 32 children with CS and a CHD7 mutation at the Dutch CHARGE Family Day in 2016 or 2017 and the International CHARGE conference in Orlando, Florida, in 2017. We used photogrammetric anthropometry-a measurement method based on digital photographs-to determine various body proportions. We compared these to measurements in 21 normally proportioned children with growth hormone deficiency, using independent-samples t test, Mann-Whitney U test, or chi-square test as appropriate. RESULTS: Children with CS appear to have a shorter trunk in proportion to their height, head length, and arm length. Children with CS also had smaller feet proportional to tibia length compared to controls. The change of body proportions with age was similar in children with CS and controls. CONCLUSION: Body proportions in children with CS are significantly different from those of normally proportioned controls, but a similar change of body proportions with age was noted for both groups.

Early prenatal diagnosis of a lumbo-costo-vertebral syndrome.

Lumbo-costo-vertebral syndrome (LCVS) is a rare type of lumbar hernia with associated abnormalities of the vertebral bodies, ribs, and trunk muscles. Only a few cases have been reported in the literature, all of which were diagnosed after birth. We present a case of LCVS diagnosed early in the second trimester of pregnancy using two- and three-dimensional ultrasound. In our case, the associated anomalies were: multiple costovertebral anomalies, lumbar hernia, anal imperforation, left hand supernumerary digit, and clubfoot.

Dermatofibrosarcoma gigante de la pared torácica anterior / Giant Dermatofibrosarcoma Protuberans of the Anterior Chest Wall

No disponible

Novel techniques for the surgical management of abdominopelvic constriction rings in amniotic band syndrome.

Constriction rings are associated with amniotic band syndrome and most often present in the extremities. Constriction bands of the trunk are rare, and a standard of surgical care remains elusive. Traditional methods of constriction ring excision rely on soft-tissue rearrangement with multiple Z-plasties, but renewed interest in linear closure and limited Z-plasty has emerged. The authors review contemporary literature and report two cases of abdominopelvic constriction ring reconstruction with long-term follow-up. Novel techniques including anterior sheath Y-V plasty, pteruges release of the Scarpa fascia, and limited Z-plasty closure may minimize the need for serrated scar patterns.

Variability of the trunks and divisions of the brachial plexus in human fetuses.

BACKGROUND: The brachial plexus is an important part of peripheral nervous systems. The studies of variation of the brachial plexus and its parts in the prenatal period are extremely rare. OBJECTIVES: The goal of the study was to assess brachial plexus trunk variability and their divisions in human fetuses. MATERIAL AND METHODS: Examinations were carried out on a total of 220 brachial plexuses derived from 110 fetuses aged 4-7 months, including 50 females (45.45%) in a CRL range of 80-233 mm. The following methods were incorporated into the study: anthropological, dissection, digital image acquisition and statistical methods. Symmetry and sexual dimorphism was observed. RESULTS: Trunk variations were observed in 12 (5.45%) plexus divisions as well as in 74 (33.6%) variants cases. Variants were equally common in both genders and on both sides of the body. Variants of individual trunks were of a similar percentage, usually an observed central trunk formed by nerve roots C7 and C8. Anterior division of the middle trunk (ADMT) was the most variable division, observed in 63 (28.63%) cases. There was no asymmetry and sexual dimorphism. CONCLUSIONS: Trunk variants are rare and anomalies of divisions were observed in one-third of cases, regardless of the side of the body and sex. Brachial plexus variation recognition is important from a clinical point of view.

Ethmocephaly with amniotic band syndrome.

Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears. Amniotic band syndrome is another rare congenital malformation with ring-like constriction bands in the limbs, head, face or trunk. We present a case of ethmocephaly with amniotic band syndrome, which is likely the first of its kind, published in the literature.

The effects of cobalt on the development, oxidative stress, and apoptosis in zebrafish embryos.

Metal-on-metal hip arthroplasty has been performed with increasing frequency throughout the world, particularly in younger and more active patients, including women of childbearing age. The potential toxicity of cobalt exposure on fetus is concerned since cobalt ions generated by metal-on-metal bearings can traverse the placenta and be detected in fetal blood and amniotic fluid. This study examined the effects of cobalt exposure on early embryonic development and the mechanisms underlying its toxicity. Zebrafish embryos were exposed to a range of cobalt concentrations (0-100 mg/L) between 1 and 144 h postfertilization. The survival and early development of embryos were not significantly affected by cobalt at concentrations <100 µg/L. However, embryos exposed to higher concentrations (>100 µg/L) displayed reduced survival rates and abnormal development, including delayed hatching, aberrant morphology, retarded growth, and bradycardia. Furthermore, this study examined oxidative stress and apoptosis in embryos exposed to cobalt at concentrations of 0-500 µg/L. Lipid peroxidation levels were increased in cobalt-treated embryos at concentrations of 100 and 500 µg/L. The mRNA levels of catalase, superoxide dismutase 2, p53, caspase-3, and caspase-9 genes were upregulated in a dose-dependent manner. Terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling assays also revealed abnormal apoptotic signals in the brain, trunk, and tail when treated with 500 µg/L cobalt. These data suggest that oxidative stress and apoptosis are associated with cobalt toxicity in zebrafish embryos.

Analysis of the Anterior Trunk Symmetry Index (ATSI). Preliminary report.

Spine deformations and faulty posture may be evaluated by assessing trunk surface deformation. POTSI index (Posterior Trunk Symmetry Index) was introduced in 2003 to assess asymmetry of the trunk seen from the back. However, deformations may also affect the anterior surface of the trunk and this can be noticed more easily by the patient owing to the visual accessibility of the anterior surface. This study a new parameter called ATSI (Anterior Trunk Symmetry Index) in order to assess the anterior trunk deformation. study was conducted on fifty primary school children, boys and girls aged 6-7 years. One photograph of each child in a spontaneous standing position was taken with a digital camera. The photographs were analysed to obtain a quantitative assessment of the new parameter, ATSI, by means of computer software developed in collaboration with an IT specialist. The intra-observer error found in the analysis was 1.23. The interobserver error was 3.08. The average ATSI value for 50 children was 25.3 ± 10.6. The threshold value norm defined as mean+2SD was 46.5.

A case of connected superior and middle trunks of the brachial plexus or with abnormal upper trunk.

During treatment of tumors of nerve sheaths, such as schwannomas and neurofibromas, neurosurgeons should be aware of variations and aberrant formations of brachial plexus. Variations of the branches of brachial plexus are common, but its variations in the level of the roots and trunks are rare. Variations regarding lower trunk were founded more frequent in previous studies. An unusual variant of the brachial plexus was found unilaterally during routine dissection of a 75-year-old male cadaver. It was observed that middle trunk was connected to superior trunk. Deep cervical artery originating from subclavian artery passed between C6 and C7 roots. Similar variations in the brachial plexus were not observed on the contralateral side. In available literature, only two similar bilateral cases were reported. The details of this variation and its clinical significance were discussed. Knowledge about these rare variations in the trunks is very useful in surgical practice and anesthesia.