scholarly journals Sodium channel myotonia may be associated with high-risk brief resolved unexplained events

2020 ◽  
Vol 5 ◽  
pp. 57
Author(s):  
Gabriel Cea ◽  
Daniel Andreu ◽  
Elaine Fletcher ◽  
Sithara Ramdas ◽  
Richa Sud ◽  
...  
Keyword(s):  
High Risk ◽  
Sodium Channel ◽  
Muscle Hypertrophy ◽  
Clinical Evidence ◽  
Upper Airway ◽  
Neuromuscular Disorder ◽  
Patient Morbidity ◽  
Appropriate Treatment ◽  
Erroneous Diagnosis ◽  
Upper Airway Muscles

Brief resolved unexplained events (BRUEs) have numerous and varied causes posing a challenge to investigation and management. A subset of infants with the neuromuscular disorder sodium channel myotonia, due to mutations in the SCN4A gene, experience apnoeic events due to laryngospasm (myotonia) of the upper airway muscles that may present as a BRUE. We sought to ascertain the frequency, severity and outcome of infants carrying the G1306E SCN4A mutation commonly associated with this presentation. We report 12 new cases of individuals with the G1306E mutation from three unrelated families and perform a literature review of all published cases. Infants with the G1306E mutation almost universally experience laryngospasm and apnoeic events. The severity varies significantly, spans both low and high-risk BRUE categories or can be more severe than criteria for a BRUE would allow. At least a third of cases require intensive care unit (ICU) care. Seizure disorder is a common erroneous diagnosis. Apnoeas are effectively reduced or abolished by appropriate treatment with anti-myotonic agents. Probands with the G1306E mutation who are family planning need to be counselled for the likelihood of post-natal complications. There is readily available and extremely effective treatment for the episodic laryngospasm and apnoea caused by this mutation. Proactively seeking clinical evidence of myotonia or muscle hypertrophy with consideration of CK and EMG in high risk BRUEs or more complex apnoeic events may reduce avoidable and prolonged ICU admissions, patient morbidity and potentially mortality.

scholarly journals Sodium channel myotonia may be associated with high-risk brief resolved unexplained events

2020 ◽  
Vol 5 ◽  
pp. 57 ◽  
Author(s):  
Gabriel Cea ◽  
Daniel Andreu ◽  
Elaine Fletcher ◽  
Sithara Ramdas ◽  
Richa Sud ◽  
...  
Keyword(s):  
High Risk ◽  
Sodium Channel ◽  
Muscle Hypertrophy ◽  
Clinical Evidence ◽  
Upper Airway ◽  
Neuromuscular Disorder ◽  
Patient Morbidity ◽  
Appropriate Treatment ◽  
Erroneous Diagnosis ◽  
Upper Airway Muscles

Brief resolved unexplained events (BRUEs) have numerous and varied causes posing a challenge to investigation and management. A subset of infants with the neuromuscular disorder sodium channel myotonia, due to mutations in the SCN4A gene, experience apnoeic events due to laryngospasm (myotonia) of the upper airway muscles that may present as a BRUE. We sought to ascertain the frequency, severity and outcome of infants carrying the G1306E SCN4A mutation commonly associated with this presentation. We report 14 new cases of individuals with the G1306E mutation from three unrelated families and perform a literature review of all published cases. Infants with the G1306E mutation almost universally experience laryngospasm and apnoeic events. The severity varies significantly, spans both low and high-risk BRUE categories or can be more severe than criteria for a BRUE would allow. At least a third of cases require intensive care unit (ICU) care. Seizure disorder is a common erroneous diagnosis. Apnoeas are effectively reduced or abolished by appropriate treatment with anti-myotonic agents. Probands with the G1306E mutation who are family planning need to be counselled for the likelihood of post-natal complications. There is readily available and extremely effective treatment for the episodic laryngospasm and apnoea caused by this mutation. Proactively seeking clinical evidence of myotonia or muscle hypertrophy with consideration of CK,EMG and genetic testing in high risk BRUEs or more complex apnoeic events may reduce avoidable and prolonged ICU admissions, patient morbidity and potentially mortality.

scholarly journals The effects of a preoperative multidisciplinary conference on outcomes for high-risk patients with challenging surgical treatment options: a retrospective study

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Masayoshi Koike ◽  
Mie Yoshimura ◽  
Yasushi Mio ◽  
Shoichi Uezono
Keyword(s):  
Patient Safety ◽  
Retrospective Study ◽  
High Risk ◽  
Treatment Plan ◽  
Treatment Options ◽  
High Risk Patients ◽  
Appropriate Treatment ◽  
Risk Patients ◽  
Treatment Plans ◽  
Multidisciplinary Conference

Abstract Background Surgical options for patients vary with age and comorbidities, advances in medical technology and patients’ wishes. This complexity can make it difficult for surgeons to determine appropriate treatment plans independently. At our institution, final decisions regarding treatment for patients are made at multidisciplinary meetings, termed High-Risk Conferences, led by the Patient Safety Committee. Methods In this retrospective study, we assessed the reasons for convening High-Risk Conferences, the final decisions made and treatment outcomes using conference records and patient medical records for conferences conducted at our institution from April 2010 to March 2018. Results A total of 410 High-Risk Conferences were conducted for 406 patients during the study period. The department with the most conferences was cardiovascular surgery (24%), and the reasons for convening conferences included the presence of severe comorbidities (51%), highly difficult surgeries (41%) and nonmedical/personal issues (8%). Treatment changes were made for 49 patients (12%), including surgical modifications for 20 patients and surgery cancellation for 29. The most common surgical modification was procedure reduction (16 patients); 4 deaths were reported. Follow-up was available for 21 patients for whom surgery was cancelled, with 11 deaths reported. Conclusions Given that some change to the treatment plan was made for 12% of the patients discussed at the High-Risk Conferences, we conclude that participants of these conferences did not always agree with the original surgical plan and that the multidisciplinary decision-making process of the conferences served to allow for modifications. Many of the modifications involved reductions in procedures to reflect a more conservative approach, which might have decreased perioperative mortality and the incidence of complications as well as unnecessary surgeries. High-risk patients have complex issues, and it is difficult to verify statistically whether outcomes are associated with changes in course of treatment. Nevertheless, these conferences might be useful from a patient safety perspective and minimize the potential for legal disputes.

Motor responses to positive-pressure breathing in the developing opossum

1985 ◽  
Vol 58 (5) ◽  
pp. 1489-1495 ◽  
Author(s):  
J. P. Farber
Keyword(s):  
Airway Resistance ◽  
Upper Airway ◽  
Abdominal Muscle ◽  
Positive Pressure ◽  
Postnatal Life ◽  
Abdominal Muscles ◽  
Upper Airways ◽  
Motor Responses ◽  
Upper Airway Resistance ◽  
Upper Airway Muscles

The suckling opossum exhibits an expiration-phased discharge in abdominal muscles during positive-pressure breathing (PPB); the response becomes apparent, however, only after the 3rd-5th wk of postnatal life. The purpose of this study was to determine whether the early lack of activation represented a deficiency of segmental outflow to abdominal muscles or whether comparable effects were observed in cranial outflows to muscles of the upper airways due to immaturity of afferent and/or supraspinal pathways. Anesthetized suckling opossums between 15 and 50 days of age were exposed to PPB; electromyogram (EMG) responses in diaphragm and abdominal muscles were measured, along with EMG of larynx dilator muscles and/or upper airway resistance. In animals older than approximately 30 days of age, the onset of PPB was associated with a prolonged expiration-phased EMG activation of larynx dilator muscles and/or decreased upper airway resistance, along with expiratory recruitment of the abdominal muscle EMG. These effects persisted as long as the load was maintained. Younger animals showed only those responses related to the upper airway; in fact, activation of upper airway muscles during PPB could be associated with suppression of the abdominal motor outflow. After unilateral vagotomy, abdominal and upper airway motor responses to PPB were reduced. The balance between PPB-induced excitatory and inhibitory or disfacilitory influences from the supraspinal level on abdominal motoneurons and/or spinal processing of information from higher centers may shift toward net excitation as the opossum matures.

scholarly journals Histochemical properties of upper airway muscles: comparison of dilator and nondilator muscles

1997 ◽  
Vol 10 (5) ◽  
pp. 990-993 ◽  
Author(s):  
A. Bracher ◽  
R. Coleman ◽  
R. Schnall ◽  
A. Oliven
Keyword(s):  
Upper Airway ◽  
Upper Airway Muscles

Obstructive Sleep Apnea: Epidemiology, Causes, and Consequences

2020 ◽  
Author(s):  
Diane C Lim ◽  
Richard J Schwab
Keyword(s):  
Risk Factors ◽  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Cushing Syndrome ◽  
Upper Airway ◽  
Fat Distribution ◽  
Epidemiologic Studies ◽  
Obstructive Sleep ◽  
Upper Airway Muscles ◽  
Underlying Diseases

As part one of the three chapters on sleep-disordered breathing, this chapter reviews obstructive sleep apnea (OSA) epidemiology, causes, and consequences. When comparing OSA prevalence between 1988 to 1994 and 2007 to 2010, we observe that OSA is rapidly on the rise, paralleling increasing rates in obesity. Global epidemiologic studies indicate that there are differences specific to ethnicity with Asians presenting with OSA at a lower body mass index than Caucasians. We have learned that structural and physiologic factors increase the risk of OSA and both can be influenced by genetics. Structural risk factors include craniofacial bony restriction, changes in fat distribution, and the size of the upper airway muscles. Physiologic risk factors include airway collapsibility, loop gain, pharyngeal muscle responsiveness, and arousal threshold. The consequences of OSA include daytime sleepiness and exacerbation of many underlying diseases. OSA has been associated with cardiovascular diseases including hypertension, coronary heart disease, stroke, atrial fibrillation, and other cardiac arrhythmias; pulmonary hypertension; metabolic disorders such as type 2 diabetes, hypothyroidism, acromegaly, Cushing syndrome, and polycystic ovarian syndrome; mild cognitive impairment or dementia; and cancer. This review contains 4 figures, 1 table and 48 references. Key Words: cardiac consequences, craniofacial bony restriction, epidemiology, fat distribution, metabolic disease, neurodegeneration, obesity, obstructive sleep apnea

scholarly journals Reflex activities of the upper airway muscles during experimental nasal occlusion in anesthetized dogs.

1991 ◽  
Vol 53 (1) ◽  
pp. 93-99 ◽  
Author(s):  
Osamu KAMINUMA ◽  
Hirokazu TSUBONE ◽  
Job Manaet MATIAS ◽  
Ryohei NISHIMURA ◽  
Shigeru SUGANO
Keyword(s):  
Upper Airway ◽  
Anesthetized Dogs ◽  
Upper Airway Muscles

Respiratory muscle responses to changes in chemoreceptor drive in infants

1990 ◽  
Vol 68 (3) ◽  
pp. 1041-1047 ◽  
Author(s):  
W. A. Carlo ◽  
J. M. DiFiore
Keyword(s):  
Preterm Infants ◽  
Respiratory Muscle ◽  
Muscle Activation ◽  
Respiratory Muscles ◽  
Upper Airway ◽  
Obstructive Apnea ◽  
Surface Electrodes ◽  
Posterior Cricoarytenoid ◽  
Upper Airway Muscles ◽  
Muscle Responses

Upper airway muscles and the diaphragm may have different quantitative responses to chemoreceptor stimulation. To compare the respiratory muscle responses to changes in CO2, 10 ventilator-dependent preterm infants (gestational age 28 +/- 1 wk, postnatal age 40 +/- 6 days, weight 1.4 +/- 0.1 kg) were passively hyperventilated to apnea and subsequently hypoventilated. Electromyograms from the genioglossus, alae nasi, posterior cricoarytenoid, and diaphragm were recorded from surface electrodes. Apneic CO2 thresholds of all upper airway muscles (genioglossus 46.8 +/- 4.3 Torr, alae nasi 42.4 +/- 3.6 Torr, posterior cricoarytenoid 41.6 +/- 3.2 Torr) were higher than those of the diaphragm (38.8 +/- 2.6 Torr, all P less than 0.05). Above their CO2 threshold levels, responses of all upper airway muscles appeared proportional to those of the diaphragm. We conclude that nonproportional responses of the respiratory muscles to hypercapnia may be the result of differences in their CO2 threshold. These differences in CO2 threshold may cause imbalance in respiratory muscle activation with changes in chemical drive, leading to upper airway instability and obstructive apnea.

scholarly journals The StarT back screening tool and a pain mannequin improve triage in individuals with low back pain at risk of a worse prognosis – a population based cohort study

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Emma Haglund ◽  
Ann Bremander ◽  
Stefan Bergman
Keyword(s):  
At Risk ◽  
Back Pain ◽  
High Risk ◽  
Chronic Widespread Pain ◽  
Screening Tools ◽  
Treatment Level ◽  
Start Back Screening Tool ◽  
Appropriate Treatment ◽  
Reported Health ◽  
Worse Prognosis

Abstract Background The STarT Back Screening Tool (SBT) identifies patients with low back pain (LBP) at risk of a worse prognosis of persistent disabling back pain, and thereby facilitates triage to appropriate treatment level. However, the SBT does not consider the pain distribution, which is a known predictor of chronic widespread pain (CWP). The aim of this study was to determine if screening by the SBT and screening of multisite chronic widespread pain (MS-CWP) could identity individuals with a worse prognosis. A secondary aim was to analyze self-reported health in individuals with and without LBP, in relation to the combination of these two screening tools. Methods One hundred and nineteen individuals (aged 40–71 years, mean (SD) 59 (8) years), 52 with LBP and 67 references, answered two screening tools; the SBT and a pain mannequin – as well as a questionnaire addressing self-reported health. The SBT stratifies into low, medium or high risk of a worse prognosis. The pain mannequin stratifies into either presence or absence of CWP in combination with ≥7 painful areas of pain (0–18), here defined as MS-CWP (high risk of worse prognosis). The two screening tools were studied one-by-one, and as a combined screening. For statistical analyses, independent t-tests and Chi-square tests were used. Results Both the SBT and the pain mannequin identified risk of a worse prognosis in individuals with (p = 0.007) or without (p = 0.001) LBP. We found that the screening tools identified partly different individuals at risk. The SBT identified one individual, while the pain mannequin identified 21 (19%). When combining the two screening methods, 21 individuals (17%) were at high risk of a worse prognosis. When analyzing differences between individuals at high risk (combined SBT and MS-CWP) with those at low risk, individuals at high risk reported worse health (p = 0.013 - < 0.001). Conclusions Both screening tools identified individuals at risk, but they captured different aspects, and also different number of individuals at high risk of a worse prognosis. Thus, using a combination may improve early detection and facilitate triage to appropriate treatment level with multimodal approach also in those otherwise missed by the SBT.

Evaluation and Management of the Lingual Thyroid Gland

1996 ◽  
Vol 105 (4) ◽  
pp. 312-316 ◽  
Author(s):  
James D. Williams ◽  
Oleh Slupchinskij ◽  
Anthony P. Sclafani ◽  
Claude Douge
Keyword(s):  
Thyroid Gland ◽  
Upper Airway ◽  
Oral Intake ◽  
Surgical Excision ◽  
Initial Therapy ◽  
Clinical Findings ◽  
Lingual Thyroid ◽  
Appropriate Treatment ◽  
History Of ◽  
Gland Enlargement

Lingual thyroid gland is a rare clinical entity that is due to failure of descent of the gland anlage early in the course of embryogenesis. It may present with symptoms of dysphagia, upper airway obstruction, or even hemorrhage at any time from infancy through adulthood. We present two illustrative cases of lingual thyroid gland along with a protocol for diagnosis and management of the condition. Elements in the diagnostic and therapeutic evaluation are described with attention to the clinical findings, laboratory tests, and radiographic imaging studies employed in confirming the diagnosis and planning appropriate treatment The natural history of the condition is reviewed and a treatment strategy is outlined that focuses on the use of suppressive doses of thyroid hormone as the initial therapy. Surgical excision of the gland is reserved for more advanced cases of gland enlargement resulting in airway compromise, severe dysphagia that limits oral intake, or ongoing hemorrhage.

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