Case Report: Severe Rhabdomyolysis and Multiorgan Failure After ChAdOx1 nCoV-19 Vaccination.

Background: Severe skeletal muscle damage has been recently reported in patients with SARS-CoV-2 infection and as a rare vaccination complication. Case summary: On Apr 28, 2021 a 68-year-old man who was previously healthy presented with an extremely severe rhabdomyolysis that occurred nine days following the first dose of SARS-CoV-2 ChAdOx1 nCov-19 vaccination. He had no risk factors, and denied any further assumption of drugs except for fermented red rice, and berberine supplement. The clinical scenario was complicated by a multi organ failure involving bone marrow, liver, lung, and kidney. For the rapid increase of the inflammatory markers, a cytokine storm was suspected and multi-target biologic immunosuppressive therapy was started, consisting of steroids, anakinra, and eculizumab, which was initially successful resulting in close to normal values of creatine phosphokinase after 17 days of treatment. Unfortunately, 48 days after the vaccination an accelerated phase of deterioration, characterized by severe multi-lineage cytopenia, untreatable hypotensive shock, hypoglycemia, and dramatic increase of procalcitonin (PCT), led to patient death. Conclusion: Physicians should be aware that severe and fatal rhabdomyolysis may occur after SARS-CoV2 vaccine administration.

Evidence for neural progenitor cells in the human adult enteric nervous system.

Putative neural stem cells have been identified within the enteric nervous system (ENS) of adult rodents and cultured from human myenteric plexus. We conducted studies to identify neural stem cells or progenitor cells within the submucosa of adult human ENS. Jejunum tissue was removed from adult human subjects undergoing gastric bypass surgery. The tissue was immunostained, and confocal images of ganglia in the submucosal plexus were collected to identify protein gene product 9.5 (PGP 9.5) - immunoractive neurons and neuronal progenitor cells that coexpress PGP 9.5 and nestin. In addition to PGP-9.5-positive/nestin-negative neuronal cells within ganglia, we observed two other types of cells: (1) cells in which PGP 9.5 and nestin were co-localized, (2) cells negative for both PGP 9.5 and nestin. These observations suggest that the latter two types of cells are related to a progenitor cell population and are consistent with the concept that the submucosa of human adult ENS contains stem cells capable of maintenance and repair within the peripheral nervous system.

Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.

BACKGROUND: Primary desminopathies are caused by desmin gene [DES (MIM*125660)] mutations. The clinical spectrum includes pure myopathies, cardiomuscular diseases and cardiomyopathies. Patients with restrictive cardiomyopathy (RCM) plus atrioventricular block (AVB) due to DES defects are frequently unrecognized unless desmin accumulation is specifically investigated in endomyocardial biopsy (EMB) by ultrastructural study. AIMS: To describe a cardiological phenotype characterized by RCM plus AVB due to desmin accumulation caused by DES defects. METHODS AND RESULTS: Desmin accumulation was diagnosed by means of ultrastructural and immunocytochemical studies of EMB in four unrelated probands with RCM and AVB. Candidate genes [DES and alphaB-crystallin (CRYAB)] were screened using sequence analysis. Four DES gene mutations were identified: three new (R16C, T453I and a 10 bp deletion at the exon-intron boundary of exon 3 disrupting the donor splice site) and one known (R406W). The disease was autosomal dominant in two families, recessive in one and associated with a de novo mutation in one. The mutations cosegregated with phenotype in all patients. CRYAB gene screening was negative. CONCLUSIONS: A cardiac phenotype characterized by RCM and AVB caused by desmin accumulation is associated with DES mutations. Although the mutations affected different domains, the cardiac phenotype was identical.

Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation.

Three patients with different clinical phenotypes harbored the same point mutation at nucleotide 14709 (T14709C) in the tRNAGlu gene of mitochondrial DNA (mtDNA). The first patient was a 21-month-old child with severe congenital myopathy, respiratory distress and mild mental retardation. Muscle biopsy showed about 12% cytochrome c oxidase (COX)-negative ragged-red fibers (RRFs), and markedly decreased activities of mitochondrial respiratory chain complexes I, III and IV. The other two patients were 51- and 55-year-old siblings with slowly progressive myopathy and diabetes mellitus. Muscle biopsy showed focal COX-negative RRFs and decreased activities of complexes I, III and IV. In all three patients, the T14709C mutation was abundant in muscle but present at lower levels in accessible tissues. Previously described patients with the same mutation also showed congenital or late-onset myopathy. Diabetes is frequently associated with both phenotypes and is a clinical clue to the molecular diagnosis.

Assessment of ventilation during the performance of elective endoscopic-guided percutaneous tracheostomy: clinical evaluation of a new method.

STUDY OBJECTIVES: To evaluate the feasibility of uninterrupted translaryngeal open ventilation delivered through a pediatric, uncuffed endotracheal tube during percutaneous endoscopic tracheostomy (PET). DESIGN AND SETTING: Prospective, observational clinical study in a six-bed ICU of a university hospital. PATIENTS: Forty consecutive adult patients requiring an elective tracheostomy. INTERVENTIONS: We employed the basic Ciaglia technique with multiple dilators (n = 10), a single dilator (n = 15), and the Fantoni method (n = 15). During PET, pressure-controlled ventilation was maintained through an uncuffed, 4-mm inner-diameter pediatric tube. The fraction of inspired oxygen was 1.0. Ventilator settings were as follows: pressure-controlled ventilation, 40 cm H(2)O; respiratory rate, 25/min; inspiratory time, 1.2 s of inspiratory time (inspiratory/expiratory ratio, 1:1); and positive end-expiratory pressure, 0 cm H(2)O. MEASUREMENTS AND RESULTS: Measurements of arterial blood gas (ABG) tensions were obtained before the start of each tracheostomy and every 3 min during the procedure. An average of 8.28 +/- 2.28 ABG measurements were obtained from each patient (+/- SD). All patients were successfully assisted during performance of the tracheostomy, and no patient required ventilation through a cuffed endotracheal tube. The maximum increase in PaCO(2) was 8.49 +/- 5.50 mm Hg, and the maximum decrease in pH related to hypercarbia was 0.04 +/- 0.04. The PaO(2) increased in all patients (maximum change, 69.75 +/- 57.00 mm Hg; p < 0.01), and no patient had desaturation during the procedure. CONCLUSIONS: The technique that we propose for airway management during PET was safe and effective. A mild increase in PaCO(2) was not associated with significant metabolic and hemodynamic consequences, and an adequate PaO(2) was maintained throughout the study.