PARATHYROIDS AND CERVICAL THYMUS IN SUDDEN UNEXPECTED DEATH IN INFANCY

PEDIATRICS ◽  
1969 ◽  
Vol 44 (2) ◽  
pp. 225-233
Author(s):  
H. A. Ellis ◽  
B. Knight
Keyword(s):  
Cause Of Death ◽  
Parathyroid Glands ◽  
Sudden Unexpected Death ◽  
Unexpected Death ◽  
Thymic Tissue

It has recently been claimed that there is a reduction in the number of parathyroid glands and abnormal fusion of parathyroid and thymic tissues in the sudden unexpected death (SUD) syndrome in infancy. In the present study, the parathyroid glands and thymus were dissected under the stereomicroscope at autopsy in 55 infants, including 31 with features of SUD. The identity of the glands was confirmed histologically. Parathyroid glands were identified in comparable numbers and sites in infants dying with the SUD syndrome or from some ascertainable cause. Cervical thymic tissue was commonly found in infants, whatever the cause of death, and fusion of parathyroid and thymic tissues was not confined to the SUD syndrome. The study provides no evidence to support the claim that there is a deficiency of parathyroid glands in the SUD syndrome or that fusion of thymic and parathyroid tissues normally does not occur.

scholarly journals MOLECULAR AUTOPSY: EVALUATION OF SUDDEN UNEXPECTED DEATH CASES IN TERMS OF “KCNQ1” GENETIC VARIATION

2019 ◽  
Vol 3 (6) ◽  
Author(s):  
Kenan Kaya ◽  
Mete Korkut Gülmen ◽  
Ayşe Serin ◽  
Necmi Çekin ◽  
Ahmet Hilal
Keyword(s):  
Genetic Variation ◽  
Genetic Analysis ◽  
Cause Of Death ◽  
Conduction System ◽  
Sudden Unexpected Death ◽  
Age Group ◽  
Unexpected Death ◽  
Molecular Autopsy ◽  
Sequence Variations ◽  
Death Cases

Background: Deaths occuring without a known disease and/or a known cause, deaths with non-lethal diseases are interpretated as sudden-unexpected-suspected deaths. Autopsy should always required to evaluate the cause of death. Some of the cases can be termed as negative autopsy since the cause of death can not be determined. This is one of the main interests of the future forensics. Molecular autopsies are one of the main practices of to reduce the negative autopsy ratios. Thus, post-mortem KCNQ1 genetic variation tests are done in sudden unexpected death cases. Material and methods: In this study 0 – 50 years old sudden-unexpected deaths autopsy cases were handled. Samples taken from cases were evaluated and “KCNQ1” genetic variation tests were done in our Department. Results: This study included 47 cases of 42 sudden unexpected death cases (0 – 50 age group) and 5 control group. 15 cases were between 40 – 50 age group and number of cases were increasing with age. 29 of cases (% 69) were male. Evaluation of body-mass index of cases were done and normal weighted cases were the most common with 21 cases (% 50). According to death locations; 17 cases had died (% 45,9) at home. Death location records of 5 cases couldn’t be found. Pathological examinations of all cases were done. We had identified fibrosis and fatty change appearances in SA node of 9 cases (% 21,4) and AV node of 13 cases (% 30,9) especially in conduction tissue examinations. As the result of KCNQ1 genetic analysis of cases, we identified sequence variations in 1638th nucleotid of exon 13 and 1986th nucleotid of exon 16. Conclusion: Cases with conduction system pathology and sequence variations of KCNQ1 genetic analysis shows that we are in need of these tests among routine practice to reduce negative autopsy ratios. Key words: KCNQ1, molecular autopsy, sudden unexpected death, conduction system, negative autopsy.

Telling Christopher’s Story

Visions ◽  
2019 ◽  
pp. 284-290
Author(s):  
Jeanne Donalty
Keyword(s):  
Cause Of Death ◽  
Sudden Unexpected Death ◽  
Unexpected Death ◽  
Loved One ◽  
Helping Others

Sudden unexpected death in epilepsy (SUDEP) is the leading cause of death in people with uncontrolled seizures. This section details the lives of people who have lost a loved one to SUDEP and found meaning from their tragedies by helping others in similar situations.

scholarly journals Time-of-day influences on respiratory sequelae following maximal electroshock-induced seizures in mice

2017 ◽  
Vol 118 (5) ◽  
pp. 2592-2600 ◽  
Author(s):  
Benton S. Purnell ◽  
Michael A. Hajek ◽  
Gordon F. Buchanan
Keyword(s):  
Eye Movement ◽  
Cause Of Death ◽  
Rem Sleep ◽  
Refractory Epilepsy ◽  
Time Of Day ◽  
Sudden Unexpected Death ◽  
Maximal Electroshock ◽  
Rapid Eye Movement ◽  
Unexpected Death ◽  
Sleep State

Sudden unexpected death in epilepsy (SUDEP) is the leading cause of death in refractory epilepsy patients. Although specific mechanisms underlying SUDEP are not well understood, evidence suggests most SUDEP occurs due to seizure-induced respiratory arrest. SUDEP also tends to happen at night. Although this may be due to circumstances in which humans find themselves at night, such as being alone without supervision or sleeping prone, or to independent influences of sleep state, there are a number of reasons why the night (i.e., circadian influences) could be an independent risk factor for SUDEP. We explored this possibility. Adult male WT mice were instrumented for EEG, EMG, and EKG recording and subjected to maximal electroshock (MES) seizures during wakefulness, non-rapid eye movement (NREM) sleep, and rapid eye movement (REM) sleep during the nighttime/dark phase. These data were compared with data collected following seizures induced during the daytime/light phase. Seizures induced during the nighttime were similar in severity and duration to those induced during the daytime; however, seizures induced during the nighttime were associated with a lesser degree of respiratory dysregulation and postictal EEG suppression. Seizures induced during REM sleep during the nighttime were universally fatal, as is seen when seizures are induced during REM during the daytime. Taken together, these data implicate a role for time of day in influencing the physiological consequences of seizures that may contribute to seizure-induced death. NEW & NOTEWORTHY Sudden unexpected death in epilepsy (SUDEP) is the leading cause of death in patients with refractory epilepsy. SUDEP frequently occurs during the night, which has been attributed to an effect of sleep. We have shown that sleep state does indeed influence survival following a seizure. That SUDEP occurs during the night could also implicate a circadian influence. In this study we found that time of day independently affects the physiological consequences of seizures.

Go and Enjoy Your Life

Visions ◽  
2019 ◽  
pp. 304-308
Author(s):  
Mike Stanton
Keyword(s):  
Cause Of Death ◽  
Sudden Unexpected Death ◽  
Unexpected Death ◽  
Loved One ◽  
Helping Others

Sudden unexpected death in epilepsy (SUDEP) is the leading cause of death in people with uncontrolled seizures. This section details the lives of people who have lost a loved one to SUDEP and found meaning from their tragedies by helping others in similar situations.

scholarly journals Proceedings of the Sleep and Epilepsy Workshop: Section 3 Mortality: Sleep, Night, and SUDEP

2021 ◽  
pp. 153575972110045
Author(s):  
Gordon F. Buchanan ◽  
Bruce J. Gluckman ◽  
Franck K. Kalume ◽  
Samden Lhatoo ◽  
Rama K. Maganti ◽  
...  
Keyword(s):  
Animal Models ◽  
Cause Of Death ◽  
Refractory Epilepsy ◽  
Time Of Day ◽  
Sudden Unexpected Death ◽  
Unexpected Death ◽  
Sleep State ◽  
Pathophysiological Mechanisms

Sudden unexpected death in epilepsy (SUDEP) is the leading cause of death in patients with refractory epilepsy. Likely pathophysiological mechanisms include seizure-induced cardiac and respiratory dysregulation. A frequently identified feature in SUDEP cases is that they occur at night. This raises the question of a role for sleep state in regulating of SUDEP. An association with sleep has been identified in a number of studies with patients and in animal models. The focus of this section of the Sleep and Epilepsy Workshop was on identifying and understanding the role for sleep and time of day in the pathophysiology of SUDEP.

scholarly journals Confirmation of Cause of Death Via Comprehensive Autopsy and Whole Exome Molecular Sequencing in People With Epilepsy and Sudden Unexpected Death

2021 ◽  
Author(s):  
C. Anwar A. Chahal ◽  
David J. Tester ◽  
Ahmed U. Fayyaz ◽  
Keerthi Jaliparthy ◽  
Nadeem A. Khan ◽  
...  
Keyword(s):  
Cardiac Arrest ◽  
Sudden Death ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Cause Of Death ◽  
Sudden Cardiac Arrest ◽  
Sudden Unexpected Death ◽  
Unexpected Death ◽  
Pathogenic Variants ◽  
Whole Exome

Background Sudden cardiac arrest is the leading mode of death in the United States. Epilepsy affects 1% of Americans; yet epidemiological data show a prevalence of 4% in cases of sudden cardiac arrest. Sudden unexpected death in epilepsy (SUDEP) may share features with sudden cardiac arrest. The objective of this study was to report autopsy and genomic findings in a large cohort of SUDEP cases. Methods and Results Mayo Clinic Sudden Death Registry containing cases (ages 0–90 years) of sudden unexpected and unexplained deaths 1960 to present was queried. Exome sequencing performed on decedent cases. From 13 687 cases of sudden death, 656 (4.8%) had a history of seizures, including 368 confirmed by electroencephalography, 96 classified as SUDEP, 58 as non‐SUDEP, and 214 as unknown (insufficient records). Mean age of death in SUDEP was 37 (±19.7) years; 56 (58.3%) were male; 65% of deaths occurred at night; 54% were found in bed; and 80.6% were prone. Autopsies were obtained in 83 cases; bystander coronary artery disease was frequently reported as cause of death; nonspecific fibrosis was seen in 32.6% of cases, in structurally normal hearts. There were 4 cases of Dravet syndrome with pathogenic variants in SCN1A gene. Using whole exome sequencing in 11 cases, 18 ultrarare nonsynonymous variants were identified in 6 cases including CACNB2, RYR2, CLNB, CACNA1H, and CLCN2 . Conclusions This study examined one of the largest single‐center US series of SUDEP cases. Several cases were reclassified as SUDEP, 15% had an ECG when alive, and 11 (11.4%) had blood for whole exome sequencing analysis. The most frequent antemortem genetic finding was pathogenic variants in SCN1A ; postmortem whole exome sequencing identified 18 ultrarare variants.

Sudden Unexpected Death in Young Adults Including Four Cases of SADS: A 10-Year Review from the West of Ireland (1985–1994)

1997 ◽  
Vol 37 (3) ◽  
pp. 242-247 ◽  
Author(s):  
Fadel K. Bennani ◽  
Charles E. Connolly
Keyword(s):  
Young Adults ◽  
Cause Of Death ◽  
Traffic Accidents ◽  
Road Traffic ◽  
Sudden Unexpected Death ◽  
Toxicological Screening ◽  
Unexpected Death ◽  
College Hospital ◽  
Study Population ◽  
Underlying Cause Of Death

Sudden unexpected death in young adults of 18–35 years accounts for an important subset of deaths in our autopsy population. The case notes and autopsy reports on 44 subjects were analysed during the period 1985–94 at the Department of Histopathology, University College Hospital, Galway to establish the underlying cause of death. Subjects who were involved in road traffic accidents, cases of drowning, and patients with known congenital heart disease, chronic renal failure and malignancy were excluded. We found that a large proportion of sudden deaths in young adults were secondary to epilepsy and chemical/drug poisoning, accounting for 34 per cent and 31.8 per cent respectively. Sudden adult death syndrome (SADS) accounted for 9 per cent of the study population. Detailed case history, meticulous post-mortem examination and complete toxicological screening are recommended to arrive at the underlying cause of death.

scholarly journals Recurrent sudden unexpected death in infancy: a case series of sibling deaths

2020 ◽  
Vol 105 (10) ◽  
pp. 945-950
Author(s):  
Joanna J Garstang ◽  
Michael J Campbell ◽  
Marta C Cohen ◽  
Robert C Coombs ◽  
Charlotte Daman Willems ◽  
...  
Keyword(s):  
Cause Of Death ◽  
Child Protection ◽  
Causes Of Death ◽  
Case Series ◽  
Sudden Unexpected Death ◽  
Modifiable Risk Factors ◽  
Parenting Skills ◽  
Unexpected Death ◽  
Need Support ◽  
Reduce Risk

ObjectivesTo determine the rate of sudden unexpected death in infancy (SUDI) for infants born after a previous SUDI in the same family, and to establish the causes of death and the frequency of child protection concerns in families with recurrent SUDI.DesignObservational study using clinical case records.SettingThe UK’s Care of Next Infant (CONI) programme, which provides additional care to families who have experienced SUDI with their subsequent children.PatientsInfants registered on CONI between January 2000 and December 2015.Main outcome measuresCause of death, presence of modifiable risk factors for SUDI and child protection concerns.ResultsThere were 6608 live-born infants registered in CONI with 29 deaths. 26 families had 2 deaths, and 3 families had 3 deaths. The SUDI rate for infants born after one SUDI is 3.93 (95% CI 2.7 to 5.8) per 1000 live births. Cause of death was unexplained for 19 first and 15 CONI deaths. Accidental asphyxia accounted for 2 first and 6 CONI deaths; medical causes for 3 first and 4 CONI deaths; and homicide for 2 first and 4 CONI deaths. 10 families had child protection concerns.ConclusionsThe SUDI rate for siblings is 10 times higher than the current UK SUDI rate. Homicide presenting as recurrent SUDI is very rare. Many parents continued to smoke and exposed infants to hazardous co-sleeping situations, with these directly leading to or contributing to the death of six siblings. SUDI parents need support to improve parenting skills and reduce risk to subsequent infants.

scholarly journals Sudden cardiac death in epilepsy disappoints, but epileptologists keep faith

2016 ◽  
Vol 74 (7) ◽  
pp. 570-573 ◽  
Author(s):  
Fulvio A. Scorza ◽  
Esper A. Cavalheiro ◽  
Jaderson Costa da Costa
Keyword(s):  
Risk Factors ◽  
Sudden Cardiac Death ◽  
Cause Of Death ◽  
Cardiac Death ◽  
Seizure Control ◽  
Intractable Epilepsy ◽  
Sudden Unexpected Death ◽  
Unexpected Death ◽  
Common Cause ◽  
Preventative Measures

ABSTRACT Sudden unexpected death in epilepsy (SUDEP) is the most common cause of death in people with intractable epilepsy. Probably, optimization of seizure control will prevent some of these deaths. Briefly, we integrated in this paper some data about the epidemiology, risk factors, etiology, and preventative measures in the management of SUDEP.

scholarly journals Post-Mortem Echocardiography as a Guide to Cardiac Autopsy—A Worthwhile Concept?

2010 ◽  
Vol 4 ◽  
pp. CMC.S5676
Author(s):  
J. Ker ◽  
L. Du Toit-Prinsloo ◽  
WFP. Van Heerden ◽  
G Saayman
Keyword(s):  
Case Report ◽  
Cause Of Death ◽  
Diagnostic Yield ◽  
Sudden Unexpected Death ◽  
Post Mortem ◽  
Unexpected Death ◽  
Diagnostic Modality ◽  
One Year

Sudden and unexpected death in the young is a common and worldwide problem. Sudden, unexpected death in infancy (SUDI), clinically unexpected death in an infant between one week and one year of age, affects around 1 in 1000 infants. Autopsy will reveal a specific cause of death in only one third of cases. This has led to various ancillary examinations in an effort to increase the diagnostic yield of the autopsy. In this case report it is suggested that another diagnostic modality, that of the post-mortem echocardiogram might be a worthwhile concept to explore.

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