Clinical and molecular characterization of seven patients with Danon disease

xlomafota13 shared this article with you from Inoreader Clinical and molecular characterization of seven patients with Danon disease Via Experimental and therapeutic medicine Exp Ther Med. 2021 Apr;21(4):395. doi: 10.3892/etm.2021.9826. Epub 2021 Feb 24. ABSTRACT Danon disease is an X-linked glycogen storage disease characterized by skeletal myopathy, cardiomyopathy and intellectual impairment. It is caused by a loss-of-function mutation in the lysosome-associated membrane protein-2 (LAMP2) gene. In the present study, exon and boarding intron analysis of 96 cardio disease-associated genes was performed in 770 patients with hypertrophic cardiomyopathy (HCM) using second-generation sequencing. Next, the identified mutations were confirmed in family members of the patients and 300 healthy controls. Detailed clinical, electrocardiographic (ECG) and echocardiographic findings were recorded. A pathogenic mutation in LAMP2 was identified in 7 patients who phenotypically presented with HCM. A total of four patients had a fragmented QRS complex (fQRS) on surface ECG. In addition, two patients presented with ventricu lar preexcitation with a short PR interval. Compared with the patients with protein kinase AMP-activated non-catalytic subunit γ2 syndrome and Fabry disease, the 7 patients with Danon disease presented at an earlier age, had a smaller left atrial size, a thinner maximal left ventricular wall thickness and a lower probability of pacemaker implantation. Compared with 12 sex- and age-matched patients with sarcomere-protein mutations, the 4 patients with Danon disease had a lower left ventricular outflow tract gradient and worse diastolic function. The present study provided a comprehensive comparison of different pathologies presenting with HCM and reported on features of early-onset Danon disease, including the characteristic preexcitation and fQRS on ECG. This may provide valuable information that may be utilized for the early diagnosis and treatment of patients with Danon disease. The present study was registered as a clinical trial with ClinicalTrials.gov (Sep. 2, 2016; registry n o. NCT02888132). PMID:33680117 | PMC:PMC7918051 | DOI:10.3892/etm.2021.9826 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

CENPF promotes papillary thyroid cancer progression by mediating cell proliferation and apoptosis

xlomafota13 shared this article with you from Inoreader CENPF promotes papillary thyroid cancer progression by mediating cell proliferation and apoptosis Via Experimental and therapeutic medicine Exp Ther Med. 2021 Apr;21(4):401. doi: 10.3892/etm.2021.9832. Epub 2021 Feb 24. ABSTRACT Papillary thyroid cancer (PTHCA) accounts for ~85% cases of thyroid cancer and exhibits high incidence. Targeted therapy is an effective method to combat this disease; however, novel therapeutic targets are required. Centromere protein F (CENPF), a member of centromere proteins and a transient kinetochore protein, regulates various cellular processes such as cell migration and mitosis, and its upregulation has been observed in multiple types of cancer, including breast cancer and gastric cancer. However, the potential role of CENPF in PTHCA progression is remains unclear. The results of the current study demonstrated that CENPF expression was enhanced in human PTHCA tissues through IHC assays. Furthermore, the expression of CENPF was correlated with the prognosis and the clinicopathological features, including T stage (P=0.021) and intraglandular d issemination (P=0.042) in patients with PTHCA. CENPF regulated the proliferation, apoptosis and cell cycle of PTHCA cells in vitro, which was confirmed through colony formation, MTT and flow cytometry assays, and affected tumor growth in vivo in mice. In conclusion, the current study reported the involvement of CENPF in PTHCA progression and provided a promising therapeutic target for PTHCA treatment. PMID:33680123 | PMC:PMC7918471 | DOI:10.3892/etm.2021.9832 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Thrombotic microangiopathy led to acute kidney injury in an infant with hemophagocytic lymphohistiocytosis: A case report

xlomafota13 shared this article with you from Inoreader Thrombotic microangiopathy led to acute kidney injury in an infant with hemophagocytic lymphohistiocytosis: A case report Via Experimental and therapeutic medicine Exp Ther Med. 2021 Apr;21(4):396. doi: 10.3892/etm.2021.9827. Epub 2021 Feb 24. ABSTRACT Hemophagocytic lymphohistiocytosis (HLH) is a rare but fatal clinical syndrome frequently complicated by acute kidney injury (AKI) and acute tubular necrosis. Renal thrombotic microangiopathy (TMA) is a specific pathological feature of childhood HLH and few cases have been reported among infants. The present study presents a rare case of HLH with TMA in an infant. A 15-month-old infant with a week-long history of fever was admitted to hospital. The infant presented with AKI and subsequently a reduction in platelet and hemoglobin levels. TMA was diagnosed by kidney biopsy and the clinical, laboratory and bone marrow biopsy findings met the criteria of HLH. Due to a progressive increase in serum creatinine levels, hemodialysis was initiated on the second day following admission. Dexamethasone was administered to treat both the fever and HLH. The pati ent's body temperature returned to a normal range and platelet and hemoglobin levels were stable after 14 days of admission. Renal function stabilized on day 21. The results of genetic testing did not identify any disease-related variations. Childhood HLH is a severe condition and mortality can be reduced by early diagnosis and correct treatment. For patients with HLH and AKI, the possible role of TMA should be considered. Renal biopsy can help to identify the cause of AKI and can be performed when the patient's condition is stable. PMID:33680118 | PMC:PMC7918195 | DOI:10.3892/etm.2021.9827 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Proteomics analysis of the hypothalamus in spontaneously hypertensive rats treated with twirling reinforcing manipulation, twirling reducing manipulation or electroacupuncture

xlomafota13 shared this article with you from Inoreader Proteomics analysis of the hypothalamus in spontaneously hypertensive rats treated with twirling reinforcing manipulation, twirling reducing manipulation or electroacupuncture Via Experimental and therapeutic medicine Exp Ther Med. 2021 Apr;21(4):381. doi: 10.3892/etm.2021.9812. Epub 2021 Feb 19. ABSTRACT Hypertension is one of the primary risk factors for cardiovascular diseases. Numerous proteins serve a critical role in hypertension. Acupuncture has been widely used as a treatment for hypertension in China. The results of the current study suggested that electroacupuncture (EA), twirling reinforcing manipulation (TRFM) and twirling reducing manipulation (TRDM) may be useful in the treatment of hypertension. Additionally, proteome analysis of spontaneously hypertensive rats treated with EA, TRFM and TRDM was performed. There were 117 (EA group), 61 (TRFM group) and 86 (TRDM group) differentially expressed proteins (DEPs) identified in the respective experimental groups compared with the model group. Moreover, parallel reaction monitoring assays were used to validate the reliability of the DEPs. The majority of the results were consistent with prev ious proteomics results, in particular that for expression of neudesin neurotrophic factor (NENF). NENF may potentially represent an antihypertensive drug target. PMID:33680103 | PMC:PMC7918484 | DOI:10.3892/etm.2021.9812 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Effect of Endoscopic Sinus Surgery on Clinical Outcomes in DeltaF508 Cystic Fibrosis Patients

xlomafota13 shared this article with you from Inoreader Effect of Endoscopic Sinus Surgery on Clinical Outcomes in DeltaF508 Cystic Fibrosis Patients Via Clinical Otolaryngology Abstract Objectives Chronic rhinosinusitis (CRS) is prevalent in the Cystic Fibrosis (CF) population. CRS exacerbations in CF are thought to contribute to pulmonary exacerbations. Literature regarding the impact of endoscopic sinus surgery (ESS) is inconclusive. This study examines rates of lung function decline and pulmonary exacerbation in CF patients who have undergone ESS. Design Retrospective review of medical records. Setting Academic Hospital. Participants 40 adult CF patients. Main outcome measures Rate of lung function decline (% predicted Forced Expiratory Volume in 1 second [ppFEV1]), number of pulmonary exacerbations (IV/oral antibiotic therapy +/‐ hospital admission) and total number days hospitalized 2 years post‐operatively was collected. CRS patients undergoing ESS were matched to those without ESS by gender, age, and F508del genotype. Results Forty patients (mean age 37.4, 60% male) were reviewed. No significant difference was found between the surgical group and controls in baseline ppFEV1(72.5% vs. 72.7%, p=0.98), 2‐year pre‐operative number of pulmonary exacerbations (3.05 vs. 1.65, p=0.10), or Lund‐Mackay scores (12.25 vs. 11.55, p=0.71). No significant difference was found in 1‐year (70.5% vs. 72.8%, p=0.84) or 2‐year (70.4% vs. 72.6% p=0.80) post‐operative ppFEV1 and 2‐year post‐operative pulmonary exacerbations (1.7 vs. 1.45, p=0.87). A significant increase was identified in total number days hospitalized post‐operatively (4.85, p=0.02). In the surgical group, no significant difference was identified between preoperative and postoperative ppFEV1, 1 ‐year (‐2.51%, p=0.32) and 2‐years after ESS (‐3.10%, p=0.51), postoperative rate of pulmonary exacerbations (‐1.28, p=0.11), or in total number days hospitalized (3.74, p=0.14). Conclusions In this study, ESS does not appear to significantly improve ppFEV1 or decrease the number of pulmonary exacerbations post‐operatively. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

The Axillary Flap/Trans‐agger Approach as a Supero‐lateral Conduit to the Effective Frontal Recess for Marsupialization of Fronto‐ethmoid Mucocele

xlomafota13 shared this article with you from Inoreader The Axillary Flap/Trans‐agger Approach as a Supero‐lateral Conduit to the Effective Frontal Recess for Marsupialization of Fronto‐ethmoid Mucocele Via Clinical Otolaryngology Abstract Frontal‐orbital‐ethmoid mucocele (henceforth, "the mucocele") is often slow‐growing and insidious, needing watchful observation. But when symptomatic, complete endoscopic marsupialization is the intervention of choice.2,3 The mucocele's free wall, generally seen occupying the frontal recess (FR) in the ethmoid infundibulum/third pass roof, has a convenient transmeatal endoscopic access. However, much of the dependent surface remains hidden supero‐lateral within the bony lateral nasal wall behind the agger nasi, and further posterior into the migrated, intercommunicating ethmoid airspaces along the skull‐base. Failure to address the mucocele completely by marsupializing only its visible, infero‐medial aspect through the transmeatal route alone results in limited sinus drainage, and subsequent recurrence. Here, understanding the concept of "effective FR" (eFR) is essential. The eFR is formed by considering the FR and the migrated ethmoid air� �cells as functional patho‐anatomic compartments for an expanding, space‐occupying lesion like mucocele. The surgical technique described here is based on eFR compartmentalization and the mucocele's preferential path of progress. This ensures complete marsupialization, a wider Draf IIa ventilation/drainage basin, and a safe, co‐planar, superiorly‐placed endoscopic vision ("endo‐vision") across the mucocele and the vascular structures of skull‐base. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

A novel method to objectively assess robotic assistance in laparoscopic colorectal surgery

xlomafota13 shared this article with you from Inoreader A novel method to objectively assess robotic assistance in laparoscopic colorectal surgery Via The International Journal of Medical Robotics and Computer Assisted Surgery Abstract Objective An objective assessment of robotic assistance in colorectal surgery. Background There is a lack of objective evidence behind the claims of superior optics and improved ergonomics with robotics. This study introduces a novel method of assessing how robotics facilitates colorectal surgery. Methods Operative videos of laparoscopic and robotic surgeries were reviewed. Two components were evaluated—scope‐holder performance was assessed using a transparent overlay to partition the video image and provide lines for measurement; assistant instrument performance was measured using a separate matrix of movement episodes and time. Results The views achieved in robotic surgery were superior and less dependent on the assistant. The degree of assistance provided by the robotic system was more than that of the human assistant. Conclusions The use of robotics allows a trained operator to project his skills threefold—as a scope holder, operator and assistant—providing superior visualization and dynamic assistance throughout surgery. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

The Feasibility of Gastroesophageal Manometry for Continuously Evaluating the Degree of Expiratory Effort During Successful Crescendo Phonation

xlomafota13 shared this article with you from Inoreader The Feasibility of Gastroesophageal Manometry for Continuously Evaluating the Degree of Expiratory Effort During Successful Crescendo Phonation Via Voice Publication date: Available online 8 March 2021 Source: Journal of Voice Author(s): Masanori Umatani, Makoto Ogawa, Kiyohito Hosokawa, Chieri Kato, Eri Okajima, Toshihiko Iwahashi, Hidenori Inohara View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Vocal Fold Steroid Injection for Benign Vocal Lesions in Professional Voice Users

xlomafota13 shared this article with you from Inoreader Vocal Fold Steroid Injection for Benign Vocal Lesions in Professional Voice Users Via Voice Publication date: Available online 8 March 2021 Source: Journal of Voice Author(s): Chien-Hao Wu, Wu-Chia Lo, Li-Jen Liao, Yi-Chia Kao, Chi-Te Wang View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Glandular Stem Cells in the Skin during Development, Homeostasis, Wound Repair and Regeneration

xlomafota13 shared this article with you from Inoreader Glandular Stem Cells in the Skin during Development, Homeostasis, Wound Repair and Regeneration Via Experimental Dermatology Abstract Glands in the skin are essential for various physiological functions involving exocrine secretion. Like other tissues and organs, they possess the ability to repair injury and self‐renew during homeostasis. Progenitor cells in glands are mostly unipotent but include some multipotent stem cells that function when extensive remodeling or regeneration is required. In this review, using two glandular models in skin, mouse sweat gland and mammary gland, we discuss lineage restriction that develops during glandular morphogenesis, as well as the mechanisms regulating cell fate and plasticity during wound repair and regeneration. Understanding the intrinsic and extrinsic factors that control the behaviors of glandular stem cell and maintain glandular functions will provide insight into future prospects for glandular regeneration. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

NKG2D and its ligands as cytotoxic factors in cutaneous lupus erythematosus

xlomafota13 shared this article with you from Inoreader NKG2D and its ligands as cytotoxic factors in cutaneous lupus erythematosus Via Experimental Dermatology Abstract Cutaneous lupus erythematosus (CLE) is an autoimmune skin disorder that is characterized by an anti‐epidermal lymphocytic infiltrate invading the dermo‐epidermal junction, causing an interface dermatitis (ID). Pathogenesis of CLE has been linked to activation of innate immunity. NKG2D is an innate immune receptor on NK cells and distinct T‐cell populations. The NKG2D ligands MHC class I polypeptide‐related sequence A and B (MICA, MICB) have been associated to CLE susceptibility. Our gene microarray analyses of chronic discoid lupus erythematosus (CDLE) skin lesions, separated in epidermal, junctional and dermal skin areas via laser microdissection, revealed a high expression of NKG2D in the lymphocytic infiltrate and led us to further investigate the role of NKG2D in CLE. Pathway analyses showed a strong "interferon (IFN) signature" and vast activation of innate immune response pathways (TLR, RIG‐I, cytosolic DNA sensing, JAK/STAT) in CDLE, that expressed the high NK G2D signal. Immunohistochemistry (IHC) confirmed the presence of NKG2D and its ligand MICB in CDLE and subacute cutaneous lupus erythematosus (SCLE) lesions. Finally, HaCaT cells were stimulated with nucleic acids and extracted RNA was sequenced with Illumina HiSeq and showed that stressed keratinocytes express typical NKG2D ligands MICA/B and ULBP2. This study provides first evidence that NKG2D is present in CDLE and SCLE skin lesions and could be relevant for cytotoxicity in IFN‐driven skin lesions with upregulated innate immune response pathways present in CLE. It could furthermore play a role in CLE inflammation promoted by keratinocytes under cell stress. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Exclusive Two Handed Endoscopic Cartilage Type 3 Tympanoplasty with Endoscope Holders

xlomafota13 shared this article with you from Inoreader Exclusive Two Handed Endoscopic Cartilage Type 3 Tympanoplasty with Endoscope Holders Via Otolaryngology Indian Abstract In present world of contemporary techniques of microscopic ear surgery and single handed endoscopic ear surgery, we propose the technique of two handed endoscopic tympanoplasty using endoscope holders. The aim of the study  is to evaluate the functional and anatomical results of our technique of endoscopic type 3 cartilage tympanoplasty using endoscope holder. It is a Retrospective Non Randomized Clinical Study. A total of 67 endoscope holder assisted exclusively two handed endoscopic type 3 cartilage tympanoplasties performed from December 2014 to March 2017 with our technique were included in the study. Patients with pars tensa retractions and perforations with absent incus were included in the study. Those with cholesteatoma were excluded from the study. Full thickness tragal cartilage disc of 3 × 3 mm dimensions with a circular slot of 1 mm to fit onto the head of the stapes was used for reconstruction. Tympanic membrane reconstr uction was done along with attic reconstruction, using sliced tragal cartilage of 0.5 mm thickness. Patients were assessed at 6, 12 and 24 months for graft status. In early follow up period ranging from 24 to 52 months, the graft take up was seen in 64 ears with three perforations giving a success rate of 95.52%. The pre-operative air-bone gap was 42.6 ± 3.26 dB and the post-operative air-bone gap at 6 months, 1 and 2 years was 18.36 ± 3.46 dB, 19.42 ± 4.32 dB and 19.53 ± 4.33 dB respectively. The study reports good air-bone closure to 20 dB postoperatively following type 3 endoscopic tympanoplasty using endoscope holder. Slotted cartilage graft is definitely an excellent option for ossiculoplasty in cases of absent incus providing a stable assembly. Level of evidence: Level 4. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.