Bilateral Tensor Fasciae Suralis Muscles in a Cadaver with Unilateral Accessory Flexor Digitorum Longus Muscle

Muscle variants are routinely encountered in the dissection laboratory and in clinical practice and therefore anatomists and clinicians need to be aware of their existence. Here we describe two different accessory muscles identified while performing educational dissection of a 51-year-old male cadaver. Tensor fasciae suralis, a rare muscle variant, was identified bilaterally and accessory flexor digitorum longus, a more common muscle variant, was present unilaterally. Tensor fasciae suralis and accessory flexor digitorum longus are clinically relevant muscle variants. To our knowledge, the coexistence of tensor fasciae suralis and accessory flexor digitorum longus in the same individual has not been reported in either cadaveric or imaging studies.

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Comparison of the local effects of a 600-μm bare fibre at high laser power on lung parenchyma: Nd:YAG laser 1320 vs. 1064 nm

Abstract

Lung metastases are often resected non-anatomically with a laser using a diode-pumped Nd:YAG laser at a wavelength of 1320 nm with a laser output of up to 60 W. Usually the removal of lesions is carried out in contact mode by means of a bare fibre. We compared the local effects of an Nd:YAG laser at a wavelength of 1064 nm with those at a wavelength of 1320 nm using a 600-μm bare fibre in contact mode in an experimental model. The investigations were carried out on porcine lungs freshly withdrawn at the abattoir. The 600-μm laser fibre was fixed vertically in contact with the lung surface on a fibre holder. The fibre holder was connected to a feeding device that advances the laser fibre at constant speeds (5, 10 or 20 mm/s). In each case, two laser powers were examined: 20 and 60 W. The lung lesions produced by the laser fibre were excised for histological examination. After haematoxylin–eosin staining, the depth of the vaporisation and coagulation zones (in μm) from the laser cuts was measured. For each setting, an average value was calculated. The individual groups were compared for significance using a non-parametric Mann–Whitney U test (p < 0.05). At a low speed of the bare fibre of 5 mm/s and a laser output of 20 W, the average depth of the vaporisation zone was 858 ± 3.3 μm (λ = 1064 nm) compared to 766.0 ± 7.5 μm (λ = 1320 nm) (p < 0.01). Upon faster movement (20 mm/s), the extension of the vaporisation zone decreased to 320.3 ± 7.1 μm (λ = 1064 nm). The depth of the vaporisation zone increased significantly at 60 W, both at λ = 1064 and 1320 nm with 1517.0 ± 1.7 μm and 1414.0 ± 4.9 μm, respectively. The extent of the coagulation zone was significantly smaller at 20 W and the low speed of 5 mm/s, namely, 200.4 ± 3.7 μm (λ = 1064 nm) and 224.1 ± 2.8 μm (1320-nm laser). Upon faster movement of the laser fibre at the same output, the extent of the coagulation zone decreased in both groups. At a laser power of 60 W, the extent of the coagulation zone was significantly less with the 1064-nm laser (110.3 ± 2.4 μm) than with the 1320-nm laser (324.8 ± 1.9 μm; p < 0.001). When the laser fibre moves more rapidly, the extent of the coagulation zone decreases further. The Nd:YAG laser with a wavelength of 1320 nm still has the optimal ratio of cutting and coagulation capacity on the resection surface. With the 1064-nm Nd:YAG laser, a higher cutting capacity is associated with a decrease of the coagulation capacity.

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It is important to measure changes in the bone-conduction threshold when evaluating whether FGF-2 can be used to repair blast-induced total or near-total tympanic membrane perforations

We would like to comment on the manuscript entitled "Utility of basic fibroblast growth factor in the repair of blast-induced total or near-total tympanic membrane perforations: A pilot study" by Lou et al. [1]. The authors investigated whether basic fibroblast growth factor (bFGF) could be used to repair blast-induced total or near-total tympanic membrane perforations (TMPs) [1]. The authors concluded that direct application of bFGF was a promising minimally invasive alternative to conventional tympanoplasty, affording a comparable success rate.

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Cochlear duct length–one size fits all?

Recent studies demonstrated the utility of high-resolution computed tomography (HRCT) scans in measuring basal cochlear length and cochlear insertion depths. These studies showed significant variations in the anatomy of the cochlea amongst humans. The aim of our study was to investigate for gender and racial variations in the basal turn length of the human cochlea in an Asian population.

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MYSM1 deficiency - genotoxic stress-associated bone marrow failure and developmental aberrations

Publication date: Available online 21 January 2017
Source:Journal of Allergy and Clinical Immunology
Author(s): Ehsan Bahrami, Maximilian Witzel, Tomas Racek, Jacek Puchałka, Sebastian Hollizeck, Naschla Greif-Kohistani, Daniel Kotlarz, Hans-Peter Horny, Regina Feederle, Heinrich Schmidt, Roya Sherkat, Doris Steinemann, Gudrun Göhring, Brigitte Schlegelbeger, Michael H. Albert, Waleed Al-Herz, Christoph Klein
BackgroundMyb-Like, SWIRM and MPN domains 1 (MYSM1) is a transcriptional regulator mediating histone deubiquitination. Its role in human immunity and hematopoiesis is poorly understood.ObjectivesTo investigate the clinical, cellular and molecular features in two siblings presenting with progressive bone marrow failure, immunodeficiency and developmental aberrations.MethodsWe performed genome-wide homozygosity mapping, whole-exome sequencing (WES) and Sanger sequencing, immunophenotyping studies as well as analysis of genotoxic stress responses. p38 activation, reactive oxygen species (ROS), rate of apoptosis and clonogenic survival and growth in immune and non-immune cells were assessed. Outcome of allogeneic HSCT was monitored.ResultsWe report two patients with progressive bone marrow failure associated with myelodysplastic features, immunodeficiency affecting B-cells and neutrophil granulocytes, and complex developmental aberrations including mild skeletal anomalies, neurocognitive developmental delay, and cataracts. Whole exome sequencing revealed a homozygous premature stop codon mutation in the gene encoding the histone deubiquitinase Myb-Like, SWIRM and MPN Domains 1 (MYSM1). MYSM1-deficient cells are characterized by increased sensitivity to genotoxic stress associated with sustained induction of phosphorylated p38 protein, increased ROS production, and decreased survival upon UV light-induced DNA damage. Both patients were successfully treated using allogeneic hematopoietic stem cell transplantation (HSCT) with sustained reconstitution of hematopoietic defects.ConclusionsWe here show that MYSM1 deficiency is associated with developmental aberrations, progressive BMF with myelodysplastic features, and increased susceptibility to genotoxic stress. HSCT represent a curative therapy for patients with MYSM1 deficiency.

Graphical abstract

Teaser

MYSM1-deficiency causes a rare bone marrow failure syndrome


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Damaging heterozygous mutations in NFKB1 lead to diverse immunological phenotypes

Publication date: Available online 21 January 2017
Source:Journal of Allergy and Clinical Immunology
Author(s): Meri Kaustio, Emma Haapaniemi, Helka Göös, Timo Hautala, Giljun Park, Jaana Syrjänen, Elisabet Einarsdottir, Biswajyoti Sahu, Sanna Kilpinen, Samuli Rounioja, Christopher L. Fogarty, Virpi Glumoff, Petri Kulmala, Shintaro Katayama, Fitsum Tamene, Luca Trotta, Ekaterina Morgunova, Kaarel Krjutškov, Katariina Nurmi, Kari Eklund, Anssi Lagerstedt, Merja Helminen, Timi Martelius, Satu Mustjoki, Jussi Taipale, Janna Saarela, Juha Kere, Markku Varjosalo, Mikko Seppänen
BackgroundThe NF-κB signaling pathway is a key regulator of immune responses. Accordingly, mutations in several NF-κB pathway genes cause immunodeficiency.ObjectiveWe sought to identify the cause of disease in three unrelated Finnish kindreds with variable symptoms of immunodeficiency and autoinflammation.MethodsWe applied genetic linkage analysis and next generation sequencing, and functional analyses of NFKB1 and its mutated alleles.ResultsIn all affected individuals, we detected novel heterozygous variants in NFKB1, encoding for p50/p105. Symptoms in variant carriers differed depending on the mutation: Patients harboring a p.I553M variant presented with antibody deficiency, infection susceptibility, and multi-organ autoimmunity. Patients with a p.H67R substitution developed antibody deficiency and suffered from autoinflammatory episodes including aphthae, gastrointestinal disease, febrile attacks, and small vessel vasculitis characteristic of Behcet's disease. Patients with a p.R157X stop-gain experienced hyperinflammatory responses to surgery and showed enhanced inflammasome activation. In functional analyses, the p.R157X variant caused proteasome-dependent degradation of both the truncated and wild-type proteins, leading to a dramatic loss of p50/p105. The p.H67R variant reduced nuclear entry of p50, and showed decreased transcriptional activity in luciferase-reporter assays. The p.I553M mutation, in turn, showed no change in p50 function, but exhibited reduced p105 phosphorylation and stability. Affinity-purification mass spectrometry also demonstrated that both missense variants led to altered protein-protein interactions.ConclusionOur findings broaden the scope of phenotypes caused by mutations in NFKB1, and suggest that a subset of autoinflammatory diseases such as Behcet's disease may be caused by rare monogenic variants in genes of the NF-κB pathway.

Teaser

In addition to antibody deficiency, mutations in NFKB1 may lead to excessive inflammatory response and manifest as Behcet's disease, inflammatory gastrointestinal disease, or severe autoinflammatory postoperative complications.


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Re: Re: Patients experience of temporary tracheostomy after microvascular reconstruction for cancer of the head and neck

Publication date: Available online 20 January 2017
Source:British Journal of Oral and Maxillofacial Surgery
Author(s): S. Rogers




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