Κυριακή 14 Ιανουαρίου 2018
Pustular psoriasis and related pustular skin diseases
Summary
Patients with pustular psoriasis or related pustular diseases may have genetic abnormalities impairing the function of key players of the innate skin immune system. Recently, identification of these abnormalities has changed the paradigm of several of these diseases. These include generalized pustular psoriasis, palmoplantar pustular psoriasis and acrodermatitis continua of Hallopeau, and also drug-induced acute exanthematous generalized pustular eruption. Identified mutations in IL36RN, CARD14 and AP1S3 in different groups of patients lead to enhanced inflammatory cascade in several cellular subtypes including keratinocytes, and to the recruitment and activation of neutrophils and macrophages. These insights have unveiled pathophysiological features that shift the existing paradigms and emphasize the autoinflammatory nature of skin pustular disorders. They also highlight the crucial role of the innate immune system across entities belonging to the psoriasis disease spectrum, allowing identification of new appealing therapeutic targets.
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Increased sensitivity and high specificity of indirect immunofluorescence in detecting IgG subclasses for diagnosis of bullous pemphigoid
Summary
Background
Indirect immunofluorescence (IIF) microscopy on monkey oesophagus is an important assay for the diagnosis of bullous pemphigoid (BP). Its relatively low sensitivity (60–80%) may be partly due to insufficient detection of minor IgG subclasses.
Aim
To determine the operating characteristics of an IgG subclass in IIF.
Methods
We designed a retrospective, dual-centre, controlled cohort study on sera from 64 BP sera that had been rated as false negatives by traditional IIF microscopy, and assessed circulating IgG1, IgG3 and IgG4 autoantibodies.
Results
The sensitivities of IIF in detecting IgG1, IgG3, IgG4 and all three in combination were 45.3%, 18.8%, 32.8% and 48.4%, respectively. Specificities were > 97%.
Conclusion
Detection of IgG subclass (especially IgG1 and IgG4) autoantibodies by IIF on monkey oesophagus can significantly improve diagnostic performance of IIF microscopy for diagnosis of BP.
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Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting
Summary
Background
Muir–Torre syndrome (MTS) is a subtype of Lynch syndrome, which encompasses the combination of sebaceous skin tumours or keratoacanthomas and internal malignancy, due to mutations in DNA mismatch repair genes. Sebaceous neoplasms (SNs) may occur before other malignancies, and may lead to the diagnosis, which allows testing of other family members, cancer surveillance, risk-reducing surgery or prevention therapies.
Aim
To evaluate the efficacy of universal immunohistochemistry (IHC) screening of SNs in a service setting.
Methods
Patients with SNs were ascertained by a regional clinical pathology service over a 3-year period. Results of tumour IHC, clinical genetics notes and germline genetic testing were retrospectively reviewed.
Results
In total, 62 patients presented with 71 SNs; 9 (15%) of these patients had previously diagnosed MTS. Tumour IHC was performed for 50 of the 53 remaining patients (94%); 26 (52%) had loss of staining of one or more mismatch repair proteins. Fifteen patients were referred to the Clinical Genetics department, and 10 patients underwent germline genetic testing. Two had a new diagnosis of MTS confirmed, with heterozygous pathogenic mutations detected in the MSH2 and PMS2 genes (diagnostic yield 20%). The PMS2 mutation was identified in a 57-year-old woman with a sebaceous adenoma and history of endometrial cancer; to our knowledge, this is the first time a PMS2 mutation has been reported in MTS.
Conclusions
Universal IHC screening of SNs is an effective method to identify cases for further genetic evaluation. Rates of referral to clinical genetics were only moderate (58%). Increased awareness of MTS could help improve the rate of onward referral.
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Serum levels of psoriasin (S100A7) and koebnerisin (S100A15) as potential markers of atherosclerosis in patients with psoriasis
Summary
Background
Psoriasin (S100A7) and koebnerisin (S100A15) are proinflammatory proteins upregulated in psoriasis, but their relation to atherosclerosis remains unclear.
Aim
To evaluate the role of serum psoriasin and koebnerisin as possible markers for subclinical atherosclerosis in patients with psoriasis.
Methods
Serum levels of psoriasin and koebnerisin were measured by ELISA in 45 patients with psoriasis and in 45 healthy controls (HCs). Intima–media thickness (IMT) of the right and left common carotid arteries was measured to detect the presence of subclinical atherosclerosis. Clinical severity of psoriasis was estimated using the Psoriasis Area and Severity Index (PASI).
Results
Compared with HCs, patients with psoriasis had significantly higher levels of psoriasin (26.61 ± 22.45 ng/mL vs. 6.31 ± 1.68 ng/mL, P < 0.001) and koebnerisin (21.2 ± 13.12 ng/mL vs. 12.2 ± 4.67 ng/mL, P = 0.001), and significantly higher IMT values (1.07 ± 0.4 mm vs. 0.61 ± 0.1 mm, P < 0.001). A positive correlation was observed between IMT and PASI (r = 0.78, P < 0.001), serum psoriasin (r = 0.48, P > 0.01) and serum koebnerisin (r = 0.48, P < 0.01). Patients with psoriasis with subclinical atherosclerosis had higher serum levels of koebnerisin compared with patients without subclinical atherosclerosis (P = 0.04), which was not observed for psoriasin (P = 0.94).
Conclusion
Serum psoriasin and koebnerisin correlate with IMT, underlining their value as a potential link between psoriasis and atherosclerosis. In particular, koebnerisin seems to be a useful marker of subclinical atherosclerosis in patients with psoriasis.
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Outpatient erbium:YAG (2940 nm) laser treatment for snoring: a prospective study on 40 patients
Abstract
Snoring is a sleep phenomenon due to the partial upper airway obstruction during sleep which causes vibration of the tissues of the rhino-oro-hypopharynx and less frequently the larynx. This study evaluated the use and effectiveness of the erbium:YAG 2940-nm laser as an adjunctive in providing treatment for patients suffering from chronic snoring-related sleep disorders. A prospective study of 40 consecutive patients with snoring and sleep disorders was performed, assessing data before and after three Er:YAG laser treatment sessions. During laser treatment, the pain was almost absent. There were no side effects, except a very mild sore throat in 1 out of 40 patients. The patient's evaluation of satisfaction of the results obtained after the treatments showed that 85% of cases were very satisfied, 5 patients (12.5%) reported being fairly satisfied with the treatment and only 1 subject (2.5%) was not satisfied. Mallampati, Friedman Tongue Position, and degree of O (oropharynx) at nose oropharynx hypopharynx and larynx classification were significantly decreased after the laser sessions. The decrease of Epworth Sleepiness Scale and Visual Analogue Scale for loudness of snoring, waking up during sleep because of snoring, dry mouth on waking, and choking was all statistically significant. The incidence of dreaming during the night also raised significantly; 30/40 (75%) of cases perceived less tightness in their throat and better breathing after treatment. These results were stable at 20 months follow-up (14–24 q) in 72% of cases. Nonsurgical and non-invasive Er:YAG laser treatment demonstrated to be a valid procedure in reducing the loudness of snoring.
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High final energy of gallium arsenide laser increases MyoD gene expression during the intermediate phase of muscle regeneration after cryoinjury in rats
Abstract
The aim of this study was to determine the effects of gallium arsenide (GaAs) laser on IGF-I, MyoD, MAFbx, and TNF-α gene expression during the intermediate phase of muscle regeneration after cryoinjury 21 Wistar rats were divided into three groups (n = 7 per group): untreated with no injury (control group), cryoinjury without GaAs (injured group), and cryoinjury with GaAs (GaAs-injured group). The cryoinjury was induced in the central region of the tibialis anterior muscle (TA). The region injured was irradiated once a day during 14 days using GaAs laser (904 nm; spot size 0.035 cm2, output power 50 mW; energy density 69 J cm−2; exposure time 4 s per point; final energy 4.8 J). Twenty-four hours after the last application, the right and left TA muscles were collected for histological (collagen content) and molecular (gene expression of IGF-I, MyoD, MAFbx, and TNF-α) analyses, respectively. Data were analyzed using one-way ANOVA at P < 0.05. There were no significant (P > 0.05) differences in collagen density and IGF-I gene expression in all experimental groups. There were similar (P < 0.05) decreases in MAFbx and TNF-α gene expression in the injured and GaAs-injured groups, compared to control group. The MyoD gene expression increased (P = 0.008) in the GaAs-injured group, but not in the injured group (P = 0.338), compared to control group. GaAs laser therapy had a positive effect on MyoD gene expression, but not IGF-I, MAFbx, and TNF-α, during intermediary phases (14 days post-injury) of muscle repair.
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RAS testing for colorectal cancer patients is reliable in European laboratories that pass external quality assessment
Abstract
Wild-type status of KRAS and the NRAS gene (exon 2, 3, and 4) in the tumor should be determined before treatment of metastatic colorectal cancer (mCRC) patients with EGFR-targeting agents. There is a large variation in test methods to determine RAS status, and more sensitive detection methods were recently introduced. Data from quality assessment programs indicate substantial error rates. This study assessed the completeness and correctness of RAS testing in European laboratories that successfully passed external quality assessment (EQA). Participants were requested to send material of their most recent ten patients with mCRC who had been tested for RAS status. Isolated DNA, a hematoxylin and eosin stained tissue slide with a marked area for macrodissection and accompanying patient reports were requested. Samples were reevaluated in a reference laboratory by using a next-generation sequencing approach. In total, 31 laboratories sent in the requested material (n = 309). Despite regulations for anti-EGFR therapy, one institute did not perform full RAS testing. Reanalysis was possible for 274 samples with sufficient DNA available. In the hotspot codons of KRAS and NRAS, seven discordant results were obtained in total, five of them leading to a different prediction of anti-EGFR therapy efficacy (2%; n = 274). Results show that oncologists can rely on the quality of laboratories with good performance in EQA. Oncologists need to be aware that the testing laboratory participates successfully in EQA programs. Some EQA providers list the good performing laboratories on their website.
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Refractory Ventricle Arrhythmias Alternating with Pulseless Electrical Activity in a Young Woman Rescued by Extracorporeal Cardiopulmonary Resuscitation
Introduction. Extracorporeal cardiopulmonary resuscitation (ECPR) is a challenging approach for treating refractory out-of-hospital cardiac arrest (OHCA). Case Presentation. The authors describe a case of a 40-year-old Caucasian female who suffered from refractory OHCA, was admitted to a hospital while receiving ongoing cardiopulmonary resuscitation, and was connected to venoarterial extracorporeal membrane oxygenation 73 minutes after collapse. Ventricular tachyarrhythmias alternating with pulseless electrical activity resolved after eight hours. Following complete cardiac and neurological recovery, only adenoviral genome was found in myocardial biopsy. After 11 months, another episode of identical arrhythmias was rescued by an implantable cardioverter-defibrillator. Conclusion. Adequate prehospital and early hospital logistics is a prerequisite for successfully implementing extracorporeal cardiopulmonary resuscitation for refractory OHCA.
http://ift.tt/2EIj3I6
Otolaryngology/head and neck region manifestations of Brucella
Objectives/Hypothesis
Patients with Brucella infection present with nonspecific symptoms originating from different organs. In this study, we investigated the manifestations involving principally the otolaryngology/head and neck region.
Study Design
Retrospective cohort chart review.
Methods
A retrospective analysis of patients diagnosed with brucellosis in a tertiary medical center. Medical records of 55 patients treated for positive Brucella blood cultures between 2007 and 2016 were analyzed. Clinical manifestations localized to the otolaryngology/head and neck region were evaluated.
Results
Most patients (78%) in our study group lived in rural areas. There was an almost equal gender distribution and a wide age range (2–77 years). Nonspecific symptoms, including fever (71%), fatigue (31%), weight loss (20%), and night sweats (32.7%) were the most common. Of the specific organ systems affected by Brucella, the osteoarthritic system was most commonly infected (45.5%). Three patients (5.5%) presented with predominantly localized otolaryngology/head and neck region symptoms, consisting of necrotic lymphadenopathy or a thyroid abscess. All patients underwent drainage procedures, and the diagnosis was confirmed by positive blood and pus cultures. Complete resolution was achieved with prolonged antibiotic treatment.
Conclusions
Brucella infection should be suspected in patients with nonspecific constitutional symptoms associated with neck lymphadenopathy or thyroid abscess, especially in those living in rural areas. A high index of suspicion is mandatory for proper diagnosis and treatment. Formal drainage and prolonged antibiotic treatments are required. We strongly recommend simple drainage and not excision as the mainstay of surgical treatment.
Level of Evidence
4. Laryngoscope, 2018
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Oblique thyroarytenoid muscle in humans: An independent muscle or an accessory belly?
Objectives/Hypothesis
This study aimed to determine the prevalence and morphological variations of the oblique thyroarytenoid (TA) muscle in humans.
Study Design
Cadaveric anatomic dissections.
Methods
One hundred hemilarynges from 50 formalin-embalmed cadavers were dissected to investigate the morphology of muscle fibers of the TA muscle.
Results
Thirty-six (36%) hemilarynges were found to have a distinct oblique belly superficial to the TA muscle. In 28 cases, the belly had a relatively constant origin and an insertion that extended straight onto the TA muscle from the anterosuperior area of the internal surface of the thyroid lamina to the base of the muscular process of the arytenoid cartilage. Eight cases were located in a similar area but with some differences in the origin or insertion features.
Conclusions
We proposed that the oblique TA muscle has a high prevalence and probably acts to close and relax the vocal cords. It remains to be determined whether the oblique TA muscle is an independent muscle or an accessory belly of the main TA muscle.
Level of Evidence
NA Laryngoscope, 2018
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