Immunological parameters in girls with Turner syndrome

Disturbances in the immune system has been described in Turner syndrome, with an association to low levels of IgG and IgM and decreased levels of T- and B-lymphocytes. Also different autoimmune diseases have been connected to Turner syndrome (45, X), thyroiditis being the most common.     

A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy

X-linked dilated cardiomyopathy (XLDC) is a familial heart disease presenting in young males as a rapidly progressive congestive heart failure, without clinical signs of skeletal myopathy. This condition has recently been linked to the dystrophin gene in some families and deletions encompassing the genomic region coding for the first muscle exon have been detected. In order to identify the defect responsible for this disease at the molecular level and to understand the reasons for the selective heart involvement, a family with a severe form of XLDC was studied. In the affected members, no deletions of the dystrophin gene were observed. Analysis of the muscle promoter, first exon and intron regions revealed the presence of a single point mutation at the first exon-intron boundary, inactivating the universally conserved 5' splice site consensus sequence of the first intron. This mutation introduced a new restriction site for MseI, which cosegregates with the disease in the analyzed family. Expression of the major dystrophin mRNA isoforms (from the muscle-, brain- and Purkinje cell-promoters) was completely abolished in the myocardium, while the brain- and Purkinje cell- (but not the muscle-) isoforms were detectable in the skeletal muscle. Immunocytochemical studies with anti- dystrophin antibodies showed that the protein was reduced in quantity but normally distributed in the skeletal muscle, while it was undetectable in the cardiac muscle. These findings indicate that expression of the muscle dystrophin isoform is critical for myocardial function and suggest that selective heart involvement in dystrophin- linked dilated cardiomyopathy is related to the absence, in the heart, of a compensatory expression of dystrophin from alternative promoters.      

Comparison of α-Tocopherol, α-Tocopherol Acetate,and α-Tocopheryl Polyethylene Glycol Succinate 1000 Absorption by Caco-2 TC7 Intestinal Cells

(1) Background: vitamin E is often supplemented in the form of tocopherol acetate, but it has poor bioavailability and can fail to correct blood tocopherol concentrations in some patients with severe cholestasis. In this context, α-tocopheryl polyethylene glycol succinate 1000 (TPGS) has been of value, but very little is known about the mechanisms of its absorption. The aim of our work was to evaluate the mechanisms of absorption/secretion of TPGS compared to tocopherol acetate (TAC) and α-tocopherol by human enterocyte-like Caco-2 TC7 cells. (2) Methods: two weeks post-confluence Caco-2 cells were incubated with tocopherol- or TAC- or TPGS-rich mixed micelles up to 24 h and, following lipid extraction, TAC and tocopherol amounts were measured by high performance liquid chromatography (HPLC) in apical, cellular, and basolateral compartments. (3) Results: at equivalent concentrations of tocopherol in the apical side, the amounts of tocopherol secreted at the basolateral pole of Caco-2 cells are (i) significantly greater when the tocopherol is in the free form in the micelles; (ii) intermediate when it is in the TAC form in the micelles (p < 0.001); and (iii) significantly lower with the TPGS form (p < 0.0001). Interestingly, our results show, for the first time, that Caco-2 cells secrete one or more esterified forms of the vitamin contained in TPGS at the basolateral side.     

The effect of lengthening the gastrocnemius muscle in chronic therapy resistant plantar fasciitis

BackgroundThe aetiology of chronic therapy resistant plantar fasciitis (CTRPF) is multifactorial with more focus in recent times on the gastroc-soleus complex. This study evaluates the effect of lengthening the gastrocnemius muscle in CTRPF.MethodsAll patients with CRTPF complaints for at least one year underwent the same standard conservative treatment prior to surgery. 32 patients failed this treatment and underwent gastrocnemius recession. Silfverskiöld test, questionnaires and plantar pressure measurements were obtained at 5 visits.ResultsOne year follow up showed a significantly increase in dorsiflexion of the ankle (16 degrees), a decrease in VAS; 78 (SD: 19) to 20 (SD: 24) and significant improved functional scores. Plantar pressure measurements showed an increase of pressure under the medial proximal part of the midfoot and the 1 st metatarsal and a decrease under the hallux.ConclusionsA gastrocnemius recession results in a significant gain in dorsiflexion, altered loading of the foot and good clinical outcome in patients with CTRPF.Level of EvidenceLevel 2     

Modified full-face snorkeling mask for thoracic surgery and otolaryngology surgical use: comfort and usability assessment during the COVID-19 pandemic

Background:A worldwide personal protection equipment (PPE) shortage has emerged during COVID-19 pandemic, contributing to the high incidence of SARS-CoV-2 infection among health care providers. To address this lack of PEE, new solutions have been researched. Among those, full-face snorkeling masks demonstrated to be an interesting option. Among surgical specialties otolaryngologists and thoracic surgeons are at high risk of infection, due to the close contact with airway secretions.Objectives:We tested the comfort and usability of a modified full-face snorkeling mask (Ocean Reef Mask Aria QR+) as a protective device for otolaryngologic and thoracic surgeries.Methods:The mask was customized with a 3D-printed adaptor supporting many industrial filter types, including FFP3 and heat and moisture exchangers (HME). We evaluated surgical performances of the mask, both subjectively, with a questionnaire filled in by the surgeons, as well as objectively, monitoring transcutaneous PCO₂ and PO₂ values of surgeons during surgical procedures.Results:The modified full-face snorkeling mask was tested during 9 otolaryngologic and 15 thoracic surgery procedures. The device demonstrated very good overall vision quality with some limitations regarding lateral vision and almost no difficulties in usability. Water condensation into the mask was absent in almost every case. Both PO₂ and PCO₂ parameters remained within normal ranges during every procedure.Discussion:The modified full-face snorkeling mask can be an innovative PPE. In the current COVID-19 pandemic scenario, the worldwide shortage of protective masks and goggles may exploit this ready-to-use and low-cost solution, especially for high-risk surgical procedures.     

Anatomic and experimental basis for the insertion of a screw at the first sacral vertebra

Summary The authors present the anatomic and experimental basis of an original technique for screwing at the first sacral level employed in lumbosacral fusion. The anatomic studies were based on specimens from the anatomy museum, frozen sections of the sacrum and CT examinations with three-dimensional reconstruction and assessment of the density of the different structures of S1 in Hounsfield units (HU). The findings were that the ala and lateral portions of S1 contain yellow marrow forming what amounts to a fatty sphere bounded by the cortical bone of the sacroiliac joint, the linea terminalis and the spongy bone of the pedicles and of the body of S1. The experimental study was made by avulsion of sacral screws (system of Cotrel Dubousset), each of 7mm diameter. No screw perforated the sacral cortex. Three directions were tested. The insertion of a screw through the pedicle and body of S1 is advised, with the point of insertion below and lateral to the articular process of S1 and an oblique course forward and inward at an angle of 10° to the sagittal plane. This internal obliquity is limited by the posterior prominence of the iliac ala.

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Bases anatomiques et expérimentales de la mise en place d'une vis d'ostéosynthèse au niveau de la première vertèbre sacrée

Résumé Les auteurs présentent les bases anatomiques et expérimentales d'une technique originale de vissage en S1 employée pour les ostéosynthèses lombo-sacrées. Les études anatomiques portent sur des pièces du musée d'Anatomie, sur des coupes congelées de sacrum, des examens tomodensitométriques computérisés avec reconstruction en 3 dimensions et appréciation de la densité exprimée en unité Hounsfield (uH) des différentes structures de S1. Les constatations sont les suivantes : les ailerons et la partie latérale de S1 continennent de la moëlle jaune formant une véritable boule graisseuse limitée latéralement par l'os cortical de l'articulation sacro-iliaque, médialement par l'os spongieux des pédicules et du corps de S1, ventralement et dorsalement par les corticales de la partie latérale de S1. L'étude expérimentale est faite par arrachement de vis sacrées (matériel de Cotrel Dubousset), faisant chacune 7mm de diamètre. Aucune vis ne perfore la corticale sacrée. Trois directions sont testées. Nous conseillons la mise en place d'une vis pédiculo-corporéale en S 1 ; le point d'introduction est au-dessous et en dehors du processus articulaire de S 1, le trajet est oblique en avant et en dedans faisant 10° avec le plan sagittal. Cette obliquité interne est limitée par la saillie postérieure de l'aile iliaque.