Πέμπτη 25 Μαΐου 2017
Novel COL4A2 variant in a large pedigree: Consequences and dilemmas
Pathogenic COL4A2 variants cause abnormalities in collagen production and can have serious implications for a range of organ systems, most notably the brain. Herein, we describe a large family of first-degree relatives affected by a novel heterozygous variant in COL4A2 (c.3490G.A). A wide disease spectrum is described, from asymptomatic to symptomatic, including 2 children with porencephaly and co-existing juvenile idiopathic polyarthritis. During a subsequent pregnancy, antenatal testing identified a positive fetus. In view of the literature, we review management and genetic counselling dilemmas.
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Negative conversion of high serum p53 antibody titers in a patient with gastric cancer at 31 months after surgery
Abstract
We performed distal gastrectomy with D2 lymph node dissection, pathological stage was Stage IB (T2N0M0), in a 68-year-old male with gastric adenocarcinoma. We then monitored serum p53 antibody titers for 5 years and found it consistently decreased, without disease recurrence. Although the s-p53-Ab titer remained positive even after 2 years, it decreased to 16.5, 4.45, 2.66, 1.55, and 1.18 U/ml at 3 months, 7 months, 1 year, 2 years and 3 years after surgery, respectively. The s-p53-Ab titer finally converted from positive to negative at 31 months postoperatively without any sign of recurrence by computed tomography examination at 5 years after surgery. This case report shows that the changing pattern of s-p53-Ab titer after surgery may be useful to identify patients without recurrence. Further studies are required to gain a more precise understanding of the clinical impact of s-p53-Ab titer monitoring in gastric adenocarcinoma.
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Τετάρτη 24 Μαΐου 2017
PROPIONIBACTERIUM ACNES AND CHRONIC DISEASES : P. acnes is an opportunistic pathogen, causing a range of postoperative and device-related infections e.g., surgery,post-neurosurgical infection,joint prostheses, shunts and prosthetic heart valves. P. acnes may play a role in other conditions, including inflammation of the prostate leading to cancer,SAPHO (Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis) syndrome, sarcoidosis and sciatica.
P. acnes bacteria live deep within follicles and pores, away from the surface of the skin. In these follicles, P. acnes bacteria use sebum, cellular debris and metabolic byproducts from the surrounding skin tissue as their primary sources of energy and nutrients. Elevated production of sebum by hyperactive sebaceous glands (sebaceous hyperplasia) or blockage of the follicle can cause P. acnes bacteria to grow and multiply.[6]
P. acnes bacteria secrete many proteins, including several digestive enzymes.[7] These enzymes are involved in the digestion of sebum and the acquisition of other nutrients. They can also destabilize the layers of cells that form the walls of the follicle. The cellular damage, metabolic byproducts and bacterial debris produced by the rapid growth of P. acnes in follicles can trigger inflammation.[8] This inflammation can lead to the symptoms associated with some common skin disorders, such as folliculitis and acne vulgaris.[9][10][11]
The damage caused by P. acnes and the associated inflammation make the affected tissue more susceptible to colonization by opportunistic bacteria, such as Staphylococcus aureus. Preliminary research shows healthy pores are only colonized by P. acnes, while unhealthy ones universally include the nonpore-resident Staphylococcus epidermidis, amongst other bacterial contaminants. Whether this is a root causality, just opportunistic and a side effect, or a more complex pathological duality between P. acnes and this particular Staphylococcus species is not known.[12]
P. acnes has also been found in corneal ulcers, and is a common cause of chronic endophthalmitis following cataract surgery. Rarely, it infects heart valves leading to endocarditis, and infections of joints (septic arthritis) have been reported.[5] Furthermore, Propionibacterium species have been found in ventriculostomy insertion sites, and areas subcutaneous to suture sites in patients who have undergone craniotomy. It is a common contaminant in blood and cerebrospinal fluid cultures.
P. acnes has been found in herniated discs.[13] The propionic acid which it secretes creates micro-fractures of the surrounding bone. These micro-fractures are sensitive and it has been found that antibiotics have been helpful in resolving this type of low back pain.[14]
P. acnes can be found in bronchoalveolar lavage of approximately 70% of patients with sarcoidosis and is associated with disease activity, but it can be also found in 23% of controls.[15][16] The subspecies of P. acnes that cause these infections of otherwise sterile tissues (prior to medical procedures), however, are the same subspecies found on the skin of individuals who do not have acne-prone skin, so are likely local contaminants. Moderate to severe acne vulgaris appears to be more often associated with virulent strains.[17]
P. acnes is an opportunistic pathogen, causing a range of postoperative and device-related infections e.g., surgery,[18] post-neurosurgical infection,[19] joint prostheses, shunts and prosthetic heart valves. P. acnes may play a role in other conditions, including inflammation of the prostate leading to cancer,[20] SAPHO (Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis) syndrome, sarcoidosis and sciatica.[21]
Alexandros Sfakianakis
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
2841026182
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
2841026182
6948891480
Elevated intrathoracic CO2 pressure during thoracoscopic surgery decreases regional cerebral oxygen saturation in neonates and infants—A pilot study
Summary
Background
Intraoperative hypercapnia and acidosis are risk factors during thoracoscopy in neonates and infants.
Methods
In a prospective pilot study, we evaluated the effects of thoracoscopy in neonates and infants on cerebral microcirculation, oxygen saturation, and oxygen consumption. Regional cerebral oxygen saturation and blood flow were measured noninvasively using a new device combining laser Doppler flowmetry and white light spectrometry. Additionally, cerebral fractional tissue oxygen extraction and approximated oxygen consumption were calculated.
Fifteen neonates and infants undergoing thoracoscopy were studied using the above-mentioned method. The chest was insufflated with carbon dioxide with a pressure of 2-6 mm Hg. Single lung ventilation was not used. As control group served 15 neonates and infants undergoing abdominal surgery.
Results
Data are presented as median and range. The 95% confidence intervals for differences of means (95% CI) are given for the mean difference from baseline values.
We observed a correlation between intrathoracic pressure exceeding 4 mm Hg and transient decrease in regional cerebral oxygen saturation of 12.7% (95% CI: 9.7–17.2, P<.001). Peripheral oxygen saturation was normal at the same time.
Intraoperative increase in arterial paCO2 (median maximum value: 48.8 mm Hg, range: [36.5-65.4]; 95% CI: −16.0 to −3.0, P=.002) and decrease in arterial pH (median minimum value: 7.3, range: [7.2-7.4]; 95% CI: 0.04-0.12, P=.008) were observed during thoracoscopy with both parameters recovering at the end of the procedure.
Periods of regional cerebral oxygen saturation below 20% from baseline were significantly more frequent during thoracoscopy as compared to the control group (median maximum value: 1.3%min/h, range: [0.0-66.2] vs median maximum value: 0.0%min/h, range: [0.0-4.0]; 95% CI: −16.6 to −1.1, P=.028).
Conclusion
We suggest that thoracoscopic surgery in neonates and infants, although generally safe, may be associated with a decrease in regional cerebral oxygen saturation correlating with the applied intrathoracic pressure. According to our data an inflation pressure >4 mm Hg should be avoided during thoracoscopic surgery.
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Dichotic Listening Deficit Associated With Solvent Exposure.Due to their lipophilic nature, solvents can adversely affect large white matter tracks such as the corpus callosum. Previous investigations reveal that long-term workplace exposure to solvents is also deleterious to various auditory processes.
Dichotic Listening Deficit Associated With Solvent Exposure.
από Landry, Simon P.; Fuente, Adrian στο Otology & Neurotology Published Ahead-of-Print
Μετάφραση άρθρου
Hypothesis: A significant left ear deficit can be observed in solvent-exposed individuals using the dichotic digit test. Background: Solvents are ubiquitous in global industrial processes. Due to their lipophilic nature, solvents can adversely affect large white matter tracks such as the corpus callosum. Previous investigations reveal that long-term workplace exposure to solvents is also deleterious to various auditory processes. Investigations in exposed populations suggest a decreased performance for dichotic listening. Methods: In this present study, we examined the lateralization of a dichotic digit test score for 49 solvent-exposed individuals along with 49 age- and sex-matched controls. We evaluated group differences between test scores and the right ear advantage using a laterality index (LI). Results: Individual ear results suggest that long-term workplace solvent exposure is associated with a significantly lower dichotic listening score for the left ear. A binaural compound score analysis using a laterality index supports this left-ear deficit. Conclusion: These results provide an insight on the effects of solvent exposure on dichotic listening abilities. Further research should investigate the importance of using dichotic listening tasks to screen for solvent-induced auditory dysfunction in exposed individuals. Copyright (C) 2017 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company
Alexandros Sfakianakis
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
2841026182
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
2841026182
6948891480
Epstein-Barr virus, human endogenous retroviruses (HERVs) and human herpesvirus 6 (HHV-6) but also less common viruses such as Saffold and measles viruses are associated with multiple sclerosis
Alexandros Sfakianakis
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
2841026182
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
2841026182
6948891480
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