Remember 2 Things: Powerful tips for moving EMS patients

Patient handling is a skill EMTs and paramedics use on nearly every patient contact. In this episode of Remember 2 Things host Steve Whitehead shares two tips for lifting and moving patients - the crossed arm carry and creating trust with.

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Remember 2 Things: Powerful tips for moving EMS patients

Patient handling is a skill EMTs and paramedics use on nearly every patient contact. In this episode of Remember 2 Things host Steve Whitehead shares two tips for lifting and moving patients - the crossed arm carry and creating trust with.

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EMSCHARTS announces release of tablet application

October, 2016 – Pittsburgh, PA – emsCharts, the leader in Electronic Patient Care Record (ePCR) and fire reporting for public safety professionals, is proud to announce the release of a Tablet application for their cloud-based ePCR service. emsCharts Tablet is a native application that runs on either iOS iPad, iPad mini, or Android devices. The application does not require Internet access ...

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Thyroid function tests in polycystic ovarian syndrome

2016-10-24T08-48-04Z
Source: National Journal of Physiology, Pharmacy and Pharmacology
Samiksha Ganvir, Anagha Vinay Sahasrabuddhe, Shailesh Umakant Pitale.
Background: Polycystic ovarian syndrome (PCOS) or polycystic ovarian disease (PCOD) is the most common endocrine problem in young females with chronic anovulatory cycles occurring in 5-10% of reproductive women. PCOS is viewed as a heterogeneous disorder of multifactorial etiology also associated with increased metabolic and cardiovascular risk factors. Both PCOD and thyroid dysfunction have multiple common presentations and both have profound effect on fertility and reproductive biology. Hypothyroidism can initiate, maintain or worsen PCOD. Aims and Objectives: This study has been contemplated to investigate the prevalence of thyroid disorders in PCOS patients from Central India. Materials and Methods: Female patients in the age group between 18 and 30 years meeting Rotterdam criteria for the diagnosis of PCOS were included in the study. The patients were asked to report in fasting state for the following investigations: Fasting blood sugars, fasting insulin levels, serum luteinizing hormone (LH), follicle stimulating hormone (FSH), thyroid stimulating hormone (TSH), serum testosterone, dehydroepiandrosterone, and serum prolactin were done. FSH and LH were done on the 2nd or 3rd day of menstrual cycle. Gynecological ultrasound was done to assess ovarian condition and presence or absence of multiple cysts. Results: LH/FSH ratio of more than 2 was found in 60% of the cases, 41 subjects (68%) were insulin resistant. Raised serum testosterone was found in 64% of the cases. The mean TSH level in subjects was 4.219333 ± 1.877632. Subclinical hypothyroidism was seen in 16 (26.6%) cases and overt hypothyroidism in 12 (20%) cases. Total thyroid dysfunction (clinical and subclinical) was seen in 28 (46.66%) cases. Conclusion: The prevalence of thyroid dysfunction in PCOS is very high. All patients with PCOS should be screened for thyroid dysfunction.


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Study of auditory and visual reaction time across various phases of menstrual cycle

2016-10-24T08-48-04Z
Source: National Journal of Physiology, Pharmacy and Pharmacology
Veena CN, Vastrad BC, Nandan TM.
Background: The reproductive system of women shows regular cyclic changes that teleologically may be regarded as periodic preparations for fertilization and pregnancy. These cyclical changes are also associated with cyclical changes in the level of ovarian steroids. Estrogen is said to have widespread effects throughout the brain regions involved in affective state as well as cognition. Aims and Objectives: This study was undertaken to observe the effect of gonadal hormones on auditory and visual reaction time (VRT) across various phases of menstrual cycle. Materials and Methods: The study was conducted on 30 healthy female volunteers having regular menstrual cycle belonging to the age group of 17-20 years studying in the first year MBBS at P.E.S. Institute of Medical Sciences and Research using pitch change 1000 Hz reaction timer. Results: The results of this study reveal that the auditory and VRT was highest during the mid-proliferative phase compared to premenstrual phase and mid secretary phase. Conclusion: Thus, the fluctuating levels of ovarian hormones across the normal menstrual cycle influence auditory and VRT and this fact can be taken into consideration during neurological and behavioral assessment of women.


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Prove It: Administering dextrose during cardiac arrest improves outcomes

Medic 23 responds with Engine 14 to a report of a cardiac arrest at a private residence. After a short response, firefighters take over compressions from the wife of a 63 year-old male lying in the kitchen floor. The patient's initial ECG reveals ventricular fibrillation and the medics respond by delivering a 200 joule countershock. The firefighters immediately resume CPR.

The wife reports the patient awakened about 45 minutes ago, but did not complain of anything before coming into the kitchen to get some coffee. The patient has a history of hypertension, pre-diabetes, and high cholesterol levels (hyperlipidemia). He reportedly took all his medications this morning.

The medics easily insert a supraglottic airway and establish a large bore intravenous line in the patient's left arm. The PETCO2 reading is 22 mm Hg and the patient remains in VF. The patient's fingerstick point-of-care glucose reading is 70 mg/dL.

After delivery of a second countershock, the firefighters resume CPR. The patient receives a 1 mg bolus of epinephrine. Although the treatment guidelines in this system do not mention standing order administration of dextrose to patients in cardiac arrest, the system does authorize the drug for hypoglycemic patients with altered mental status. Because this system defines hypoglycemia as a POC glucose reading less than 70 mg/dL, there is some debate about whether the patient should receive dextrose. Ultimately, the medics decide the risk of drug administration is negligible and the potential benefit is significant. After preparing the syringe, they administer 50 mL of 50% dextrose in water.

At the end of the two-minute CPR cycle, the monitor reveals an organized rhythm. The PETCO2 reading jumped to 60 mm Hg. One of the firefighters confirms the presence of a pulse, although the patient shows no signs of regaining consciousness. The 12-lead ECG shows evidence of an inferior wall ST-segment myocardial infarction and the medics activate the STEMI alert. The seven minute transport to the emergency department is uneventful.

In the ED, the patient is hemodynamically stable and the initial ED blood glucose level is 216 mg/dL before transfer to the cath lab. Following balloon angioplasty, the comatose patient is transferred to the intensive care unit to begin targeted temperature management.

On the eighth hospital day, the patient is transferred to a long-term care facility. Although conscious, the patient suffered severe cerebral disability and is dependent on others for daily support.

Study review
Using records from the Get With The Guidelines^®-Resuscitation (GWTG-R) registry, researchers in Boston compared survival statistics between patients who received IV dextrose during a resuscitation attempt with those who did not [1]. This study included over 100,000 records of adult patients who suffered a cardiac arrest as an in-patient during a ten-year period in one of 349 participating hospitals in the United States. The primary outcome variable was survival to hospital discharge.

Results
Of the 100,029 patients included in the study, only 4,173 (4.2 percent) received intravenous dextrose during the resuscitation attempt. Overall, 18.6 percent of the study sample survived long enough to be discharged from the hospital. However, patients who received IV dextrose during the resuscitation attempt were significantly less likely to survive to hospital discharge when compared to patients who did not receive dextrose. Even after adjusting for variables known to influence cardiac arrest survival (such as coexisting conditions, initial rhythm and interventions during the arrest), the association between receiving IV dextrose and decreased survival remained.

For those who did survive, administration of dextrose resulted in a greater risk of unfavorable neurologic outcome compared to the control group. This association also remained following multivariate adjustment.

In a subgroup analysis, the researchers examined only those patients with a confirmed diagnosis of diabetes. In this analysis, the administration of dextrose was not associated with increased survival to hospital discharge or favorable neurologic function.

What this means for you
In the early days of EMS, paramedics routinely administered a "coma cocktail" to patients suffering from altered mental status. This practice, consisting of the administration of dextrose, thiamine and naloxone was predicated on the belief that these drugs were essentially harmless but could provide some benefit if the patient actually needed one or more of the medications [2]. Animal studies in the late 1970s began to link hyperglycemia during global brain ischemia to impaired neurological outcomes [3,4] and the blind administration of dextrose began to lose support. More recent human studies have demonstrated the deleterious effects of hyperglycemia on clinical outcomes in critically-ill patients [5] and those with ischemic brain injury secondary to stroke [6,7] or cardiac arrest [8], even in conjunction with targeted temperature management [9-11].

Before 2005, the American Heart Association Emergency Cardiovascular Care Guidelines listed hypoglycemia as a correctable cause of cardiac arrest for the pediatric but not the adult patient [12]. With publication of the 2005 guidelines and without any explanation, the AHA added hypoglycemia to the "H's and T's" of possible contributing factors to adult cardiac arrest [13]. However, the 2010 version removed hypoglycemia from the "H's and T's" in the adult cardiac arrest algorithm [14] but listed hypoglycemia as a reversible cause of cardiac arrest in the pediatric patient [15]. The latest version of the guidelines follows that same pattern [16,17]. In any case, no version of the guidelines recommends glucose administration unless hypoglycemia is suspected or confirmed.

Hypoglycemia is often confirmed in the out-of-hospital setting using point-of-care glucose testing, in many cases using fingerstick capillary samples. Unfortunately, this method of glucometry may not accurately represent true blood glucose levels in patients who are critically ill. In an emergency department study 32 percent of the hypotensive patients tested were incorrectly categorized as hypoglycemic using fingerstick capillary sampling [18]. One study involving patients in an intensive care unit with true hypoglycemia found the accuracy of capillary sampling to be less than 30 percent when compared to properly calibrated central laboratory measurements [19]. With patient who were receiving CPR, capillary sampling only one-third of the patients identified as hypoglycemic actually were [20]. In fact, in that study, 25 percent of the incorrectly diagnosed patients were actually already hyperglycemic.

Ventricular fibrillation and subsequent ROSC suppresses insulin secretion in animal models resulting in a threefold increase in mean blood glucose levels [21]. This period of hyperglycemia peaks immediately after ROSC with a return to baseline within two to three hours [22,23]. Data from cardiac arrest registry supplemented with blood glucose data demonstrated one characteristic of patients who died during their ICU stay following out-of-hospital cardiac arrest was a significant increase in blood glucose level between the prehospital measurement and the initial hospital admission measurement [24]. This increase occurred despite the fact prehospital personnel did not administer any glucose in the field. Patients who are hyperglycemic after achieving ROSC following cardiac arrest generally have longer recovery times and worsened neurological outcomes [8,25].

Interestingly, diabetics themselves may suffer less damage from periods of hyperglycemia following cardiac arrest when compared to non-diabetics [8,26]. Animal models suggest chronic hyperglycemia in diabetics alters the brain's buffering capacity making them less susceptible to the harmful effects of acidosis [27].

Summary
Through retrospective analysis of registry data, this study suggests that patients who receive glucose in the form of IV dextrose during the prehospital phase of cardiac arrest have a decreased chance of survival to hospital discharge. For those who do survive that long, the administration of intravenous dextrose appears to decrease the chances of good neurological recovery. Point-of-care glucose testing in patients suffering cardiac arrest results in inaccurate reading most of the time, which may prompt EMS personnel to administer glucose in the field.

References

1. Peng, T. J., Andersen, L. W., Saindon, B. Z., Giberson, T. A., Kim, W. Y., Berg, K., Novack, V., & Donnino, M. W. (2015). The administration of dextrose during in-hospital cardiac arrest is associated with increased mortality and neurologic morbidity. Critical Care, 19, 160. doi:10.1186/s13054-015-0867-z
2. Browning, R. G., Olson, D. W., Stueven, H. A., & Mateer, J. R. (1990). 50% dextrose: Antidote or toxin" Annals of Emergency Medicine, 19(6), 683-687. doi:10.1016/S0196-0644(05)82479-5
3. Myers, R. E., & Yamaguchi, S. (1977). Nervous system effects of cardiac arrest in monkeys: Preservation of vision. Archives of Neurology, 34(2), 65-74. doi:10.1001/archneur.1977.00500140019003
4. Siemkowicz, E., & Hansen, A. J. (1978). Clinical restitution following cerebral ischemia in hypo-, normo-, and hyperglycemic rats. Acta Neurologica Scandinavica, 58(1), 1-8. doi:10.1111/j.1600-0404.1978.tb02855.x
5. Al-Tarifi, A., Abou-Shala, N., Tamim, H. M., Rishu, A. H., & Arabi, Y. M. (2011). What is the optimal blood glucose target in critically ill patients" A nested cohort study. Annals of Thoracic Medicine, 6(4), 207-211. doi:10.4103/1817-1737.84774
6. Gentile, N. T., Seftchick, M. W., Huynh, T., Kruus, L.K., & Gaughan, J. (2006). Decreased mortality by normalizing blood glucose after acute ischemic stroke. Academic Emergency Medicine, 13(2), 174-180. doi:10.1197/j.aem.2005.08.009
7. Masrur, S., Cox, M., Bhatt, D. L., Smith, E. E., Ellrodt, G., Fonarow, G. C., & Schwamm, L. (2015). Association of acute and chronic hyperglycemia with acute ischemic stroke outcomes post-thrombolysis: Findings from get with the guidelines-stroke. Journal of the American Heart Association, 4(10), e002193. doi:10.1161/JAHA.115.002193
8. Beiser, D. G., Carr, G. E., Edelson, D. P., Peberdy, M. A., & Hoek, T. L. (2009). Derangements in blood glucose following initial resuscitation from in-hospital cardiac arrest: A report from the national registry of cardiopulmonary resuscitation. Resuscitation, 80(6), 624-630. doi:10.1016/j.resuscitation.2009.02.011
9. Ettleson, M. D., Arguello, V., Wallia, A., Arguelles, L., Bernstein, R. A., & Molitch, M. E. (2014). Hyperglycemia and insulin resistance in cardiac arrest patients treated with moderate hypothermia. Journal of Clinical Endocrinology and Metabolism, 99(10), E2010-E2014. doi:10.1210/jc.2014-1449
10. Kim, S. H., Choi, S. P., Park, K. N., Lee, S. J., Lee, K. W., Jeong, T. O., & Youn, C. S. (2014). Association of blood glucose at admission with outcomes in patients treated with therapeutic hypothermia after cardiac arrest. American Journal of Emergency Medicine, 32(8), 900-904. doi:10.1016/j.ajem.2014.05.004
11. Kim, Y. M., Youn, C. S., Kim, S. H., Lee, B. K., Cho, I. S., Cho, G. C., Jeung, K. W., Oh, S. H., Choi, S. P., Shin, J. H., Cha, K. C., Oh, J. S., Yim, H. W., & Park, K. N. (2015). Adverse events associated with poor neurological outcome during targeted temperature management and advanced critical care after out-of-hospital cardiac arrest. Critical Care, 19(1), 283. doi:10.1186/s13054-015-0991-9
12. American Heart Association. (2000). Guidelines 2000 for cardiopulmonary resuscitation and emergency cardiovascular care. Part 10: Pediatric advanced life support. The American Heart Association in collaboration with the International Liaison Committee on Resuscitation. Circulation, 102(8 Suppl 1), I291-I342. doi:10.1161/01.CIR.102.suppl_1.I-291
13. American Heart Association. (2005). 2005 AHA guidelines for cardiopulmonary resuscitation and emergency cardiovascular care. Part 7.2: Management of cardiac arrest. Circulation 112(24 Suppl), IV-57-IV-66. doi:10.1161/CIRCULATIONAHA.105.166557
14. Neumar, R. W., Otto, C. W., Link, M. S., Kronick, S. L., Shuster, M., Callaway, C. W., Kudenchuk, P. J., Ornato, J. P., McNally, B., Silvers, S. M., Passman, R. S., White, R. D., Hess, E. P., Tang, W., Davis, D., Sinz, E., & Morrison, L. J. (2010). Part 8: Adult advanced cardiovascular life support: 2010 American Heart Association guidelines for cardiopulmonary resuscitation and emergency cardiovascular care. Circulation, 122(suppl 3), S729–S767. doi:10.1161/CIRCULATIONAHA.110.970988
15. Kleinman, M. E., de Caen, A. R., Chameides, L., Atkins, D. L., Berg, R. A., Berg, M. D., Bhanji, F., Biarent, D., Bingham, R., Coovadia, A. H., Hazinski, M. F., Hickey, R. W., Nadkarni, V. M., Reis, A. G., Rodriguez-Nunez, A., Tibballs, J., Zaritsky, A. L., and Zideman, D. (2010). Part 10: Pediatric basic and advanced life support: 2010 International consensus on cardiopulmonary resuscitation and emergency cardiovascular care science with treatment recommendations. Circulation, 122(16 Suppl 2), S466-S515. doi:10.1161/CIRCULATIONAHA.110.971093
16. de Caen, A. R., Berg, M. D., Chameides, L., Gooden, C. K., Hickey, R. W., Scott, H. F., Sutton, R. M., Tijssen, J. A., Topjian, A., van der Jagt, É. W., Schexnayder, S. M., & Samson, R. A. (2015). Part 12: Pediatric advanced life support: 2015 American Heart Association guidelines update for cardiopulmonary resuscitation and emergency cardiovascular care. Circulation, 132(18 Suppl 2), S526-S542. doi:10.1161/CIR.0000000000000266
17. Link, M. S., Berkow, L. C., Kudenchuk, P. J., Halperin, H. R., Hess, E. P., Moitra, V. K., Neumar, R. W., O'Neil, B. J., Paxton, J. H., Silvers, S. M., White, R. D., Yannopoulos, D., & Donnino, M. W. (2015). Part 7: Adult advanced cardiovascular life support: 2015 American Heart Association guidelines update for cardiopulmonary resuscitation and emergency cardiovascular care. Circulation, 132(18 Suppl 2), S444-S464. doi:10.1161/CIR.0000000000000261
18. Atkin, S. H., Dasmahapatra, A., Jaker, M. A., Chorost, M. I., & Reddy, S. (1991). Fingerstick glucose determination in shock. Annals of Internal Medicine, 114(12), 1020–1024. doi:10.7326/0003-4819-114-12-1020
19. Kanji, S., Buffie, J., Hutton, B., Bunting, P. S., Singh, A., McDonald, K., Fergusson, D., McIntyre, L. A., & Hebert, P. C. (2005). Reliability of point-of-care testing for glucose measurement in critically ill adults. Critical Care Medicine, 33(12), 2778-2785. doi:10.1097/01.CCM.0000189939.10881.60
20. Thomas, S. H., Gough, J. E., Benson, N., Austin, P. E., & Stone, C. K. (1994). Accuracy of fingerstick glucose determination in patients receiving CPR. Southern Medical Journal, 87(11), 1072–1075. doi:10.1097/00007611-199411000-00003
21. Martin, G. B., O'Brien, J. F., Best, R., Goldman, J., Tomlanovich, M. C., & Nowak, R. M. (1985). Insulin and glucose levels during CPR in the canine model. Annals of Emergency Medicine, 14(4), 293–297. doi:10.1016/S0196-0644(85)80089-5
22. Lennmyr, F., Molnar, M., Basu, S., & Wiklund, L. (2010). Cerebral effects of hyperglycemia in experimental cardiac arrest. Critical Care Medicine, 38(8), 1726–1732. doi:10.1097/CCM.0b013e3181e7982e
23. Niemann, J. T., Youngquist, S., Rosborough, J. P. (2011). Does early postresuscitation stress hyperglycemia affect 72-hour neurologic outcome" Preliminary observations in the swine model. Prehospital Emergency Care, 15(3), 405–409. doi:10.3109/10903127.2011.569847
24. Nurmi, J., Boyd, J., Anttalainen, N., Westerbacka, J., & Kuisma, M. (2012). Early increase in blood glucose in patients resuscitated from out-of-hospital ventricular fibrillation predicts poor outcome. Diabetes Care, 35(3), 510–512. doi:10.2337/dc11-1478
25. Skrifvars, M. B., Pettila, V., Rosenberg, P. H., Castren, M. (2003). A multiple logistic regression analysis of in-hospital factors related to survival at six months in patients resuscitated form out-of-hospital ventricular fibrillation. Resuscitation, 59(3), 319–328. doi:10.1016/S0300-9572(03)00238-7
26. Monteiro, S., Monteiro, P., Goncalves, F., Freitas, M., & Providencia, L. A. (2010). Hyperglycaemia at admission in acute coronary syndrome patients: Prognostic value in diabetics and non-diabetics. European Journal of Cardiovascular Prevention and Rehabilitation, 17(2), 155–159. doi:10.1097/HJR.0b013e32832e19a3
27. Hoxworth, J. M., Xu, K., Zhou, Y., Lust, W. D., & LaManna, J. C. (1999). Cerebral metabolic profile, selective neuron loss, and survival of acute and chronic hyperglycemic rats following cardiac arrest and resuscitation. Brain Research, 821(2), 467–479. doi:10.1016/S0006-8993(98)01332-8

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Why cybersecurity is important for EMS leaders

By Paul Trusty and Matt Zavadsky

As EMS moves into the 3.0 transformation, our information security systems need to transform as well to prevent hacking, data theft and hardware destruction. EMS agencies use electronic systems today to capture 911 call data, dispatch the ambulance, record patient care, collect clinical data, bill for services and communicate to each other. We have developed a dependence on technology to improve efficiency and automate routine tasks.

Errors are decreased using technology by applying rules to make sure step B can't start until step A has finished. As technology advances, we will likely automate even more of our everyday tasks. Now imagine the disruptions and consequences of all of those systems failing, shutting down or becoming so unstable users can't use them.

What would happen next" Cybersecurity focuses on this very question.

What is the cybersecurity triad
When the word cybersecurity is mentioned, many people think about the major breaches that have been in the news. The breaches are focused on bad guys stealing email addresses, email content, usernames, passwords or credit card data. However, cybersecurity covers much more than just protecting against the hackers trying to steal our data.

Cybersecurity is about managing risk. It is about protecting the confidentiality, integrity, and availability of data — the CIA triad.

• Confidentiality is ensuring only the people who should have access to data do.
• Integrity is ensuring that the data entered into a system is the same when it comes out.
• Availability is making sure that systems are up and running when they are needed.

This CIA triad is protected through the application of technologies, processes and people. Technologies are purchased to protect, processes are created that use the technologies and people should follow the processes to maximize the protection [1].

How does cybersecurity impact our patients"
Breach of patient information can affect people in multiple ways. We often hear news reports about identity theft and fraud. It is easy to connect the dots from loss of patient information to a criminal stealing a patient's identity.

For the patient, identity theft is an embarrassing, expensive and time consuming intrusion into their life. It can also be very devastating, especially to the retired population who make up a large percentage of our patients. If we are careless with their information, it would potentially be devastating to their retirement plans, savings and dreams.

Medical identity theft is another risk to our patients in a data breach. Medical identity theft occurs when one person uses another's medical identity to receive medical treatment or goods. The victim, whose medical identity was stolen, may receive bills for the treatment sought by the thief. The average cost to settle a case of medical identity theft according to a Ponemon study is $13,500 [2].

The financial cost may be the least of a patient's worries. A New York mother was accused of having recently delivered a baby that tested positive for methamphetamine [3]. Child protective services personnel were working to take away her children because of this accusation. In reality, another woman who had been using drugs had used the mother's stolen medical identity to pay for the birth of her child.

Medical identity theft can also go further and bring greater risk to our patients. Many of our patient care reporting systems will auto-populate medications, history and allergies from previous encounters with the same patient. If we transport a patient that is using a stolen medical identity, we may be getting inaccurate information that a patient is not allergic to any medications. When we pick up the real patient that is allergic to medications we carry, the outcome could be bad.

Why EMS and who would attack us"
Health care has become a target for cybercrime. The Primary Cause of Breach graph, shown below, was generated from the Department of Health and Human Services web site data in late 2015 [4]. The significant change in the number of individuals affected by hacking or IT incidents is immediately clear.

Figure 1-HHS Breach Report Cause Analysis (Department of Health and Human Services, 2015)

In 2014, the FBI notified health care entities that they are "not as resilient to cyber intrusions compared to the financial and retail sectors, therefore the possibility of increased cyber intrusions is likely [5]."

This information leads to a conclusion that cyber criminals have identified that the health care sector may be an easier target than others.

Today's organized cybercrime has become as structured and efficient as many businesses. The risks criminals face of getting caught are lower in cybercrime and the income they receive can be substantial. A primary example of the level of sophistication of cybercrime today is ransomware attacks that have affected many including, hospital and public safety organizations.

When a computer is infected with ransomware the malware will encrypt files, partitions the entire disk and makes network shares inaccessible to users in an organization. To regain access to the files or data, the attacker requests payment from the victim in bitcoin. To help the victim, the entities that are delivering ransomware often provide detailed instructions and have even provided technical support to help users make the payment.

EMS isn't alone as a target for cybercrime. Many different sectors in health care are affected. However, health care has fallen behind and we in EMS must step up to the challenge and improve our approach to cybersecurity.

What are cybersecurity incidents"
A cybersecurity incident is anything that threatens or compromises the CIA triad — confidentiality, integrity, and availability. Following is a list of cybersecurity incidents that an EMS organization may face:

• Phishing email: An attacker uses tricky emails to get users to disclose information, very often their username and password. The attacker then uses the stolen credentials to gain access to the network.
• Malware: An attacker distributes malware as email attachments or links; from the web; from external devices such as USB, CD, and DVD; or can be manually placed by an attacker that has access to the network.
• Hacking or intrusion: Occurs when an attacker is able to exploit vulnerability on a computer or computer network to gain access. From this point the attacker may increase their privileges or may use the compromised computer as a pivot point to move deeper into the network.
• Theft or loss of equipment: When equipment that can store PHI is lost or stolen, the information it contains is at risk.
• Tailgating, shoulder surfing, baiting: Techniques used as a means to gain access. Tailgating is following people through access controlled doors or gates to gain access to secured areas. Shoulder surfing is looking over a person's shoulder to watch a password or pin entered during login or reading other information the user is viewing. Baiting is leaving USB, CD or DVD drives in a parking lot where a user will pick it up and put it in a computer, compromising the computer.

You may notice that many of the incidents listed above require a user to complete the attack. In EMS we may use social engineering tactics, which is persuasion, to get a stubborn AMI patient to agree to go to the hospital. Attackers have moved more and more towards social engineering tactics to trick users to accomplish their goals.

What are protection options for EMS"
Determining how to protect an organization can be an overwhelming task. Remember that cybersecurity is an organizational problem that requires everyone's participation. Cybersecurity is not just an IT problem.

It is critical that the leaders of our EMS organizations establish a culture of cybersecurity and understand they are ultimately responsible for cybersecurity. Leaders should understand where their PHI is stored, how many incidents they have had and what the time to remediation is when an incident occurs. They should also have a plan for contacting law enforcement when a cybercrime is identified.

It is also important to understand that cybersecurity is an ongoing continuous improvement cycle. The cycle starts with risk and vulnerability assessments and is followed up by application of controls to reduce the risk that has been identified. This cycle should continue on a schedule or anytime major changes happen in the organization. When vulnerabilities are found they should be addressed with appropriate controls.

Organizations should also realize that building up defenses against a cybersecurity attack alone is not enough. Incidents, such as malware or other intrusions will occur. Preparations should be made to be able to detect, respond and remediate security incidents as they occur. Identification of internal or external cybersecurity expertise is recommended to assist in the identification and response to security incidents.

What cybersecurity training do EMS personnel need"
Training all personnel in the organization to be aware of cybersecurity is an important defense step. The entire workforce should be trained in:

• If you see something, say something. The workforce is the cybersecurity eyes and ears of the organization. Train them to recognize issues and report them to the appropriate personnel.
• Safe email and Internet browsing practices.
• Physical protection of systems and equipment by locking the operating system when they user walks away, keeping track of mobile hardware and reporting abnormal behavior of their computer system.
• Tips for username and password protection.
• How and where to report a perceived security incident.

Finally, it has been proven that health care agencies that are just reactive to cybersecurity have 4.5 times the number of records affected in a breach than an agency that is proactive in their approach [6]. There are many cybersecurity frameworks available that can be applied. Examples are the National Institute of Standards and Technology Cybersecurity Framework, International Organization for Standardization 27000 and the Control Objectives for Information and Related technologies. The frameworks provide structure and guidance on how to begin systematically applying cybersecurity practices to an organization.

Works cited
1. Harris, S. (2010). CISSP. New York, NY: McGraw Hill.

2. Ponemon Institute. (2015). Fifth Annual Benchmark Study on Privacy & Security of Healthcare Data. Ponemon Institute.

3. The Central New York Business Journal (May 3, 2013)

4. Department of Health and Human Services. (2015). Breaches Affecting 500 or More Individuals. Retrieved August 16, 2015, from U.S Department of Health and Human Services Office for Civil Rights: http://ift.tt/1yoJveC

5. Security Week (April 4, 2014)

6. Kwon, J., & Johnson, M. E. (2014). Proactive Versus Reactive Security Investments In The Healthcare Sector. MIS Quarterly, 38(2), 451-A3.

Additional references
Australian Government Department of Defence. (2014). Strategies to Mitigate Targeted Cyber Intrusions. Australian Signals Directorate.

Australian Government Department of Defence Intelligence and Security. (2012). Top Four Mitigation Strategies to Protect Your ICT System. Australian Signals Directorate

Council on CyberSecurity. (2014). The Critical Security Controls for Effective Cyber Defense. SANS.

FBI Cyber Division. (2014). Health Care Systems and Medical Devices at Risk for Increased Cyber Intrusions for Financial Gain. FIB.

National Institute of Standards and Technology. (2014). Framework for Improving Critical Infrastructure Cybersecurity. National Institute of Standards and Technology.

Ponemon Institute. (2014). Critical Infrastructure: Security Preparedness and Maturity. Ponemon Institute LLC.

SANS. (2014). SANS Critical Security Controls Poster. Retrieved August 26, 2015, from SANS: http://ift.tt/YOKmvx

About the author
Paul Trusty, MS, EMT-P is the information technology manager at MedStar Mobile Healthcare in Fort Worth, Texas. He has focused his attention on cybersecurity receiving a Master's in Information Security and Assurance in 2015 and holds several cybersecurity certifications such as certified ethical hacker and computer hacking forensics investigator. He has 20 years of experience in EMS with the last 14 being focused on IT.

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Adenomyoepithelioma Of Breast : Report Of A Rare Case

2016-10-24T08-35-22Z
Source: The Southeast Asian Journal of Case Report and Review
Reena Kouli, Swagata Dowerah, Luckymoni Duara.
Benign adenomyoepithelioma of the breast is a rare tumor characterized by biphasic proliferation of both an inner layer of epithelial cells and a prominent peripheral layer of myoepithelial cells. This entity may rarely progresses to a more malignant state or gives rise to metastasis. Accurate diagnosis and close follow up is essential for proper treatment of these tumors. We report a 15 year old girl who presented with large lump in the breast which was clinically mistaken for a giant fibroadenoma of breast. No nodes were palpable. On gross examination, a large lump 11x11x8 cm was noted which was well circumscribed, solid on cut section. On histopathologic examination the diagnosis of adenomyoepithelioma was made which was further supported by immunohistochemistry findings.


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Clinical and bacterial profile of pneumonia in 2 months to 5 years age children: a prospective study done in a tertiary care hospital

2016-10-24T07-40-38Z
Source: International Journal of Contemporary Pediatrics
Madhusudhan Kamatham, Bharathi Sreenivasaiah, Santhimayee Kalivela, Suresh Srinivasa Nadavapalli, Ramesh Babu T, Venkateswara Rao Jampana.
Background: Pneumonia is one of the leading causes of mortality among under-five children contributing to 15% of deaths all over the world. More than 95% of all new cases of pneumonia in children less than 5 years occur in developing countries due to increased prevalence of under nutrition, inadequate coverage of vaccination, lack of exclusive breast feeding, illiteracy etc. Methods: A total 110 subjects with pneumonia aged 2 months to 5 years were included in the study. Pneumonia was diagnosed clinically and classified according to new guidelines of WHO. Nutrition history including breast feeding practices and immunization history was taken. Anthropometry recorded along with thorough clinical examination bacterial cultures of blood, sputum and nasopharyngeal aspirates were done. Chest X-ray was taken for all patients for confirmation. Results: Out of 110 total subjects, Sixty three cases (57.27%) belonged to the revised WHO classification of pneumonia and 47 (42.72%) cases had severe pneumonia. Ninety cases (81.81%) were less than 3 years of age. The percentage of severe pneumonia was higher in children less than 3 years of age with p value


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Spontaneous Perinephric Haematoma In An Otherwise Healthy Adult Female

2016-10-24T06-35-51Z
Source: The Southeast Asian Journal of Case Report and Review
Amit Sharma, Mukund Andankar, Hemant Pathak.
Spontaneous perinephric haematoma is a rare urologic entity. Tumours (both benign and malignant) are the most common causes. Several other causes have also been reported. However, in some patients, no apparent underlying etiology could be found and are described as having idiopathic spontaneous perinephric hematoma. We report a case of idiopathic spontaneous perinephric haematoma in a 38 year-old female who was successfully managed conservatively.


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Papillary Renal Cell Carcinoma Presenting As Pyonephrosis In A Young Adult.

2016-10-24T06-35-51Z
Source: The Southeast Asian Journal of Case Report and Review
Amit Sharma, Mukund Andankar, Hemant Pathak.
Papillary Renal Cell Carcinoma is the second most common type of renal malignancy in adults. It presents in fifth to seventh decade of life and is commoner in patients with End Stage Renal Disease and acquired renal cystic diseases. The presentation is similar to the clear cell type of Renal Cell Carcinoma and is asymptomatic usually. We report a case of Papillary Renal Cell Carcinoma in a young adult who presented with pyonephrosis.


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Nitric oxide synthase and cyclooxygenase modulate β-adrenergic cutaneous vasodilatation and sweating in young men

β-adrenergic receptor agonists such as isoproterenol can induce cutaneous vasodilatation and sweating in humans, however, the mechanisms underpinning this response remains unresolved. We evaluated the hypotheses that 1) nitric oxide synthase (NOS) contributes to β-adrenergic cutaneous vasodilatation, whereas cyclooxygenase (COX) limits the vasodilatation, and 2) COX contributes to β-adrenergic sweating. In 10 young males (25 ± 5 years), cutaneous vascular conductance (CVC) and sweat rate were evaluated at four intradermal forearm skin sites infused with 1) lactated Ringer's (control), 2) 10 m_{m L}-NNA, a non-specific NOS inhibitor, 3) 10 m_M ketorolac, a non-specific COX inhibitor, or 4) a combination of _L-NNA and ketorolac. All sites were co-administered with a high dose isoproterenol (100 μ_M) for 3 min to maximally induce β-adrenergic sweating (β-adrenergic sweating is significantly blunted by subsequent activations). Approximately 60 min after washout period, three incremental doses of isoproterenol were co-administered (1, 10, 100 μ_M each for 25 min). Increases in CVC induced by the first and second 100 μ_M isoproterenol were attenuated by _L-NNA alone, and those in response to all doses of isoproterenol were reduced by _L-NNA with co-infusion of ketorolac (all P≤0.05). Ketorolac alone augmented increases in CVC induced by 10 and second 100 μ_M isoproterenol (both P≤0.05). While isoproterenol-induced sweating was not affected by the separate administration of _L-NNA or ketorolac (all P>0.05), their combined administration augmented sweating elicited by the first 3-min 100 μ_M isoproterenol (P = 0.05). We show that while NOS contributes to β-adrenergic cutaneous vasodilatation, COX restrains the vasodilatation. Finally, combined inhibition of NOS and COX augments β-adrenergic sweating. (248/250)

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New perspectives on the development of muscle contractures following central motor lesions

Muscle contractures are common in patients with central motor lesions, but the mechanisms responsible for the development of contractures are still unclear. Increased or decreased neural activation, protracted placement of a joint with the muscle in a short position and muscle atrophy have been suggested to be involved, but none of these mechanisms are sufficient to explain the development of muscle contractures alone. Here we propose that changes in tissue homeostasis in the neuro-muscular-tendon-connective tissue complex is at the heart of the development of contractures, and that an integrated physiological understanding of the interaction between neural, mechanical and metabolic factors, as well as genetic and epigenetic factors, is necessary in order to unravel the mechanisms that result in muscle contractures. We hope thereby to contribute to a reconsideration of how and why muscle contractures develop in a way which will open a window towards new insight in this area in the future.

This article is protected by copyright. All rights reserved

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Differential roles of two delayed rectifier potassium currents in regulation of ventricular action potential duration and arrhythmia susceptibility

Abstract

Imbalances of ionic currents can destabilize the cardiac action potential and potentially trigger lethal cardiac arrhythmias. Here we combined mathematical modeling with information-rich dynamic-clamp experiments to elucidate regulation of action potential morphology in guinea pig ventricular myocytes. Parameter sensitivity analysis was used to predict how changes in ionic currents alter action potential duration, and these were tested experimentally using dynamic clamp, a technique that allows for multiple perturbations to be tested in each cell. Surprisingly, we found that a leading mathematical model, developed with traditional approaches, systematically underestimated experimental responses to dynamic-clamp perturbations. We then re-parameterized the model using a genetic algorithm, which allowed us to estimate ionic current levels in each cell studied. This unbiased model adjustment consistently predicted an increase in the rapid delayed rectifier K⁺ current and a drastic decrease in the slow delayed rectifier K⁺ current, and this prediction was validated experimentally. Subsequent simulations with the adjusted model generated the clinically relevant prediction that the slow delayed rectifier is better able to stabilize the action potential and suppress pro-arrhythmic events than the rapid delayed rectifier. In summary, iterative coupling of simulations and experiments enabled novel insight into how the balance between cardiac K⁺ currents influences ventricular arrhythmia susceptibility.

This article is protected by copyright. All rights reserved

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Primary Low Grade Spindle Cell Sarcoma Of The Breast

2016-10-24T04-36-12Z
Source: The Southeast Asian Journal of Case Report and Review
Anne Wilkinson, Radhika Mhatre, Anjali Patrikar.
Spindle cell sarcomas of the breast are very rare accounting for 0.2 to 1 % of all breast malignancies. Sarcomas of the breast differ from the invasive epithelial cancers in their presentation, behavior, management, staging and prognosis. Hence it is important to be aware of these rare lesions. This article describes a case of primary low grade spindle cell sarcoma of the breast in a 70 year old female patient.


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Stenosis of internal jugular vein detected by ultrasound imaging in renal recipient patient

2016-10-24T03-02-15Z
Source: Medicine Science | International Medical Journal
Ahmet Selim Ozkan, Mehmet Ali Erdogan, Sedat Akbas, Mahmut Sahin, Nevzat Erdil.
Central Venous Stenosis (CVS) has been reported as a later complication of recurrent and long-term Central Venous Cannulation (CVC). Using ultrasonography (USG) before or during CVC greatly increases first-pass success and decreases the complications such as arterial puncture or hemotoma. Anatomical abnormalities of Internal Jugular Vein (IJV) often leads to increase the complication rate and the failed attempt. In this presentation; we aimed to report that the use of USG during CVC in renal recipient patient with CVS.


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Technique: See and seq the regulome

Nature Reviews Genetics. doi:10.1038/nrg.2016.143

Author: Linda Koch

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Genetic variation: Diving deep into the genome

Nature Reviews Genetics. doi:10.1038/nrg.2016.144

Author: Denise Waldron

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The state of play in higher eukaryote gene annotation

Nature Reviews Genetics. doi:10.1038/nrg.2016.119

Authors: Jonathan M. Mudge & Jennifer Harrow

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The potential role of S-allylcysteine as antioxidant against various disorders in animal models

2016-10-24T02-06-58Z
Source: Oxidants and Antioxidants in Medical Science
V. V. Sathibabu Uddandrao, Parim Brahmanaidu, Balaji Meriga, Ganapathy Saravanan.
Successful regulation of cellular equilibrium among oxidation and anti-oxidation is significant for cellular function and DNA integrity as well as gene expression for signal transduction. Numerous pathological processes, such as cancer, diabetes, heart and/or kidney diseases, Parkinsons and Alzheimers diseases, have been revealed to be associated to the redox state of cells. In a challenge to curtail the onset of oxidative stress, administration with diverse recognized antioxidants has been recommended. Glutathione (GSH) is accepted for its capability to reduce oxidative stress and downstream the harmful effects such as lipid peroxidation. Antioxidants thus play a significant part in protecting the human body against the damage caused by reactive oxygen species. S-Allylcysteine (SAC), a sulfur containing amino acid derived from garlic, has been experimentally demonstrated to possess antioxidant and other beneficial activities. In the present review, we addressed the therapeutic effects of SAC as a potential antioxidant on various disorders by increasing GSH and other antioxidants. Authenticated with a number of in vivo, in vitro, animal experiments and some human clinical trials, beneficial effects of SAC were reported in cancer, neurodegeneration, nephrotoxicity, ischemic stroke, myocardial infarction and other heart diseases, Alzheimers disease, Parkinsons disease, preeclampsia and diabetes mellitus. On the other hand, there is no scientific evidence against SAC for having adverse effects.


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Histopathological and molecular diagnosis of infectious laryngotracheitis in Tunisia: First report

2016-10-24T01-23-15Z
Source: International Journal of Livestock Research
Khaled KABOUDI, Jihene NCIRI, Abdelkader AMARA, Imen LAARBI, Nizar MOALLA, Moncef BOUZOUAIA, Abdeljelil GHRAM.
Abstract Infectious laryngotracheitis (ILT), an acute infection of the upper respiratory tract of chickens, was absent before the end of 2013, in Tunisia. Severe respiratory signs were observed in 48 layer and broiler flocks (3 weeks to 80 weeks old) between June 2013 and June 2016, and characterized with dyspnea, bloody mucus excretion and decrease in egg production. Clinical signs were dominated by congestive and hemorrhagic inflammation of the upper respiratory tract. Histopathological analyses and PCR tests were performed on respiratory tissues of suspected birds. Suggestive lesions of ILT, such as epithelial necrosis, sero-fibrinous and sero-hemorrhagic exudates, syncytia and intranuclear inclusion bodies were observed in layers of the 25 flocks visited. ILTV was detected in 12 out of 31 flocks by conventional PCR, using specific primers for the gB gene of ILTV. Eight of these were positive in histopathology. Our findings confirmed the introduction for the first time of the ILT virus in commercial poultry farms, in Tunisia.


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1H nuclear magnetic resonance (NMR)-based serum metabolomics of human gallbladder inflammation

Inflammation Research

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Therapeutic effect observation on Nie-pinching the spine manipulation for infantile diarrhea due to spleen deficiency

Journal of Acupuncture and Tuina Science

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The dirty liver as a coincidental finding on sonography: Sonographic criteria for biliary microhamartomas of the liver

Journal of Ultrasound in Medicine

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Ramucirumab combined with FOLFOX as front-line therapy for advanced esophageal, gastroesophageal junction, or gastric adenocarcinoma: A randomized, double-blind, multicenter Phase II trial

Annals of Oncology

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Up-regulation of small nucleolar RNA 78 is correlated with aggressive phenotype and poor prognosis of hepatocellular carcinoma

Tumor Biology

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Statin drugs decrease progression to cirrhosis in HIV/hepatitis C virus coinfected individuals

AIDS

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Reasons and risk factors for irregular-interval endoscopic variceal sclerotherapy in patients with esophageal varices bleeding

Journal of Digestive Diseases

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Tenofovir versus tenofovir plus entecavir for chronic hepatitis B with lamivudine resistance and entecavir resistance

Journal of Viral Hepatitis

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A comparison of laparoscopic resection of posterior segments with formal laparoscopic right hepatectomy for colorectal liver metastases: A single-institution study

Surgical Endoscopy

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Repeated adjuvant anti-CEA radioimmunotherapy after resection of colorectal liver metastases: Safety, feasibility, and long-term efficacy results of a prospective phase 2 study

Cancer

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Fast track pathway for perforated appendicitis

The American Journal of Surgery

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Efficacy and safety profile of nab-paclitaxel plus gemcitabine in patients with metastatic pancreatic cancer treated to disease progression: A subanalysis from a phase 3 trial (MPACT)

BMC Cancer

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Sequential combination therapy versus monotherapy: A lack of benefit in time to inflammatory bowel disease-related surgery

Digestive Diseases and Sciences

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Combined analysis of three large interventional trials with gliptins indicates increased incidence of acute pancreatitis in patients with type 2 diabetes

Diabetes Care

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Preoperative anaemia and perioperative red blood cell transfusion as prognostic factors for recurrence and mortality in colorectal cancer-A Swedish cohort study

International Journal of Colorectal Disease

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Effect of neoadjuvant chemoradiotherapy on perioperative immune function of patients with locally advanced esophageal cancer

Diseases of the Esophagus

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Safety and efficacy of cryopreserved homologous veins for venous reconstruction in pancreatoduodenectomy

Surgery

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Sarcopenia is closely associated with pancreatic exocrine insufficiency in patients with pancreatic disease

Pancreatology

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Thromboprophylaxis with heparin during orthotopic liver transplantation: comparison of hepcon hms plus and anti-xa assays for low-range heparin

Journal of Cardiothoracic and Vascular Anesthesia

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Cancer-associated fibroblast-derived annexin A6+ extracellular vesicles support pancreatic cancer aggressiveness

The Journal of Clinical Investigation

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SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations

The SATB2-associated syndrome is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities, behavioral problems, dysmorphic features, and palatal and dental abnormalities. Alterations of the SATB2 gene can result from a variety of different mechanisms that include contiguous deletions, intragenic deletions and duplications, translocations with secondary gene disruption, and point mutations. The multisystemic nature of this syndrome demands a multisystemic approach and we propose evaluation and management guidelines. The SATB2-associated syndrome registry has now been started and that will allow gathering further clinical information and refining the provided surveillance recommendations. © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.

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Abdominal paraganglioma in a young woman with 1p36 deletion syndrome

1p36 deletion syndrome is the most common terminal deletion syndrome, and the genomic regions that contribute to specific 1p36 deletion syndrome-related phenotypes were recently identified. Deletions in the 1p36 region have been documented in various tumor tissues, which indicates correlation between loss of heterozygosity of 1p36 and tumor development, and the existence of tumor suppressors in this region. Therefore, it was suspected that patients with 1p36 deletion syndrome have a higher risk of tumor development; however, only a few child cases of neuroblastoma with 1p36 deletion syndrome have been reported. We report the first case of 1p36 deletion syndrome with paraganglioma (PGL) and include genetic investigation. The 24-year-old woman with 1p36 deletion syndrome had severe intellectual disability, dilated cardiomyopathy, and distinct dysmorphic features, and presented with persistent vomiting accompanied by hypertension (178/115 mmHg). Abdominal CT revealed a 40 × 50 mm retroperitoneal mass and substantial elevations of plasma and urine norepinephrine (15.4 nmol/L and 1022 µmol/mol creatinine, respectively); abnormal uptake of ¹²³I-MIBG in the tumor led to PGL diagnosis. The patient was not able to have surgery because of substantial surgical risks; however, a combination of α- and β-blockade was effective for blood pressure control. Array CGH revealed a deletion over 4.5 Mb, from the 1p telomere but excluding the SDHB region. Comprehensive mutational analysis of PGL-associated genes (RET, VHL, TMEM127, MAX, and SDHA/B/C/D) was negative. These results indicate that the germline 1p36 deletion might be "1st hit" of tumor development, and PGL might be a novel complication of 1p36 deletion syndrome. © 2016 Wiley Periodicals, Inc.

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Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study

Efficacy and safety of elosulfase alfa enzyme replacement therapy (ERT) were assessed in an open-label, phase 2, multi-national study in Morquio A patients aged ≥5 years unable to walk ≥30 meters in the 6-min walk test. Patients received elosulfase alfa 2.0 mg/kg/week intravenously for 48 weeks. Efficacy measures were functional dexterity, pinch/grip strength, mobility in a modified timed 25-foot walk, pain, quality of life, respiratory function, and urine keratan sulfate (KS). Safety/tolerability was also assessed. Fifteen patients received elosulfase alfa, three patients discontinued ERT due to adverse events (two were grade 3 drug-related adverse events, the other was not drug-related), and two patients missed >20% of planned infusions; 10 completed treatment through 48 weeks and received ≥80% of planned infusions (Modified Per Protocol [MPP] population). The study population had more advanced disease than that enrolled in other trials. From baseline to week 48, MPP data showed biochemical efficacy (urine KS decreased 52.4%). The remaining efficacy results were highly variable due to challenges in test execution because of severe skeletal and joint abnormalities, small sample sizes, and clinical heterogeneity among patients. Eight patients showed improvements in one or more outcome measures; several patients indicated improvements not captured by the study assessments (e.g., increased energy, functional ability). The nature of adverse events was similar to other elosulfase alfa studies. This study illustrates the considerable challenges in objectively measuring impact of ERT in very disabled Morquio A patients and highlights the need to examine results on an individual basis. © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.

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Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation

We report the case of a developmentally appropriate infant male with a de novo unbalanced chromosome translocation involving bands 2q32.1 and 7p21.3. The child was noted to have metopic and bicoronal craniosynostosis with closely spaced eyes, turricephaly, and flattening of the forehead. © 2016 Wiley Periodicals, Inc.

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Hearing characterization in oculoauriculovertebral spectrum: A prospective study with 10 patients

Oculoauriculovertebral spectrum (OAVS), also known as Goldenhar syndrome, is considered a condition associated to failing of embryogenesis involving the first and second branchial arches, leading to structural abnormalities arising from it. The aim of this study is to verify the hearing features presented by patients with OAVS and provide additional information that may contribute to improvement of speech therapy. The sample consisted of 10 individuals diagnosed with OAVS and cared for by the Clinical Genetics Service. All patients underwent objective assessment of auditory function through tonal and vocal audiometry. This evaluation was completed using TOAE and BERA. The patient's age ranged from 1 year and 9 months to 27 years and 4 months. At physical examination it was found that 10 had microtia, 7 preauricular tags, 6 low-set ears, 6 ear canal atresia, and 2 preauricular pits. Among the patients, five presented with abnormal hearing. Three patients had conductive hearing loss ranging from mild to moderate, and two patients had sensorineural hearing loss from mild to profound. Three patients had hearing loss in both ears. Speech-language disorders are common in children with OAVS. Thus, the referral to the audiologist and speech pathologist is indicated as soon as possible. Early recognition and detailed understanding of aspects related to the etiology, clinical features, and outcome of patients with OAVS are essential for their proper management. © 2016 Wiley Periodicals, Inc.

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A de novo 3p13 deletion induced by a complex chromosomal rearrangement combined with a pericentric inversion of chromosome, inv(3)(p13q12), and a translocation between chromosome 3 and 8, t(3;8)(q13.1;q24.2), in a child with developmental delay

Abstract

A de novo complex chromosomal rearrangement is very rare but likely to be present in a child with developmental disabilities and physical alterations. A child presented in this study showed global developmental delay and some typical phenotypes. Initial karyotyping and FISH analysis in the patient showed an apparently de novo balanced translocation between chromosome 3 and 8, t(3;8)(q13.1;q24.2). Further analysis using multiplex ligation-dependent probe amplification and array-based comparative genomic hybridization revealed a cryptic microdeletion on 3p13 region. Nearly one-third of balanced rearrangements are reported to involve cryptic disruptions at breakpoints, however, the microdeletion of the proposita was present in non-translocated region of the chromosome 3. After careful reevaluation of the results, a pericentric inversion, inv(3)(p13q13.1) that induced deletion was revealed. The clinical features of developmental delay in cognition, language, and motor function and facial and physical phenotype of the proposita were similar to those found in the children with 3p13 deletion. This case shows that combined molecular cytogenetic techniques with routine karyotyping are very useful to identify subtle genomic changes associated with abnormal phenotypes.

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