1.Association between circadian rhythm disorder and comorbidity of anxiety and depression in adolescents.
Wan Yu CHE ; Fang Biao TAO ; Xiao Yan WU
Chinese Journal of Preventive Medicine 2023;57(9):1469-1474
Adolescents are in a transition period from children to adults, during which they are prone to a variety of emotional disorders, with anxiety and depression being the most common disorders. Anxiety and depressive symptoms are highly correlated and the comorbidity of anxiety and depression is common. At the same time, the most prominent behavioral changes in adolescence are the emergence of getting up late and sleeping late, and the circadian rhythm begins to delay. Previous studies have shown that circadian rhythm is closely related to anxiety and depression, but the association between circadian rhythm disorder and comorbidity of anxiety and depression remains unclear. This article reviews the prevalence, association and potential biological mechanism of circadian rhythm disorder and comorbidity of anxiety and depression in adolescents, so as to provide a possible reference for the prevention and control of comorbidity of anxiety and depression in adolescents.
Adult
;
Child
;
Adolescent
;
Humans
;
Depression/epidemiology*
;
Anxiety/epidemiology*
;
Comorbidity
;
Chronobiology Disorders
;
Sleep
2.Association between circadian rhythm disorder and comorbidity of anxiety and depression in adolescents.
Wan Yu CHE ; Fang Biao TAO ; Xiao Yan WU
Chinese Journal of Preventive Medicine 2023;57(9):1469-1474
Adolescents are in a transition period from children to adults, during which they are prone to a variety of emotional disorders, with anxiety and depression being the most common disorders. Anxiety and depressive symptoms are highly correlated and the comorbidity of anxiety and depression is common. At the same time, the most prominent behavioral changes in adolescence are the emergence of getting up late and sleeping late, and the circadian rhythm begins to delay. Previous studies have shown that circadian rhythm is closely related to anxiety and depression, but the association between circadian rhythm disorder and comorbidity of anxiety and depression remains unclear. This article reviews the prevalence, association and potential biological mechanism of circadian rhythm disorder and comorbidity of anxiety and depression in adolescents, so as to provide a possible reference for the prevention and control of comorbidity of anxiety and depression in adolescents.
Adult
;
Child
;
Adolescent
;
Humans
;
Depression/epidemiology*
;
Anxiety/epidemiology*
;
Comorbidity
;
Chronobiology Disorders
;
Sleep
3.Clinical characteristics and genetic analysis of a neonate with Smith-Magenis syndrome.
Heng SHU ; Tongsheng YE ; Guanghui LIU ; Liying DAI ; Ping ZHA ; Xianhong LI ; Yuwei ZHAO ; Xiaoshan ZHU ; Hong ZHENG
Chinese Journal of Medical Genetics 2022;39(4):409-412
OBJECTIVE:
To explore the clinical features and genetic etiology for a neonate with Smith-Magenis syndrome (SMS).
METHODS:
Copy number variation sequencing (CNV-seq) was applied to the neonate and his parents, and the genotype-phenotype correlation was analyzed.
RESULTS:
On the second day after birth, the neonate had presented with pathological jaundice and immunodeficiency. Cranial MRI revealed ventricular enlargement and enlargement of cisterna magna. At 3 months, the infant has presented with square face, prominent forehead, deep-set eyes, hypertelorism, palpebral fissure upward and button noses. Genetic testing showed that he had carried a 2.9 Mb deletion in 17p11.2 region, seq[GRCh37] del(17)(p11.2)(chr17:16 836 379-19 880 992). The same deletion was not found in either parent.
CONCLUSION
SMS is mostly diagnosed in child and adulthood, but rarely in neonates. For neonates with SMS, the neurological and behavioral abnormalities have not been shown, but pathological jaundice, CNS abnormalities and immune deficiency may be the characteristics, which require attention of neonatal physicians.
Adult
;
Chromosome Deletion
;
Chromosomes, Human, Pair 17
;
DNA Copy Number Variations
;
Genetic Testing
;
Humans
;
Infant, Newborn
;
Intellectual Disability/genetics*
;
Male
;
Phenotype
;
Smith-Magenis Syndrome/genetics*
4.Research progress in circadian rhythms in the application of psychological rehabilitation of cancer patients.
Xiaofei LUO ; Panpan XIAO ; Lijun LI ; Yinglong DUAN ; Cheng Andy SK ; Jianfei XIE
Journal of Central South University(Medical Sciences) 2022;47(12):1740-1747
The psychological distress of cancer patients seriously affects their therapeutic effects. Effective psychological rehabilitation of cancer patients significantly improves their survival chance and quality of life. Circadian rhythm results from adaptation to the environment during the organism's evolution. When the endogenous clock system is disrupted or the external environment is changed, the body and the environment are out of synchronization, and the circadian rhythm will be disrupted. Circadian rhythm disorder is a common phenomenon in cancer patients, and the changes of circadian rhythm are closely related to their psychological distress. Many studies believe that the circadian rhythm disorder of cancer patients may directly or indirectly affect their psychology through various mechanisms, and targeted intervention by regulating the circadian rhythm of patients may be an essential means to promote the psychological rehabilitation.
Humans
;
Quality of Life
;
Circadian Rhythm/physiology*
;
Chronobiology Disorders
;
Neoplasms
6.Genetic diagnosis of a case of Smith-Magenis syndrome due to a rare small-scale deletion.
Baodong TIAN ; Donglan YU ; Guangli WANG ; Bingyi HUANG ; Chunjiang ZHU
Chinese Journal of Medical Genetics 2022;39(9):1005-1010
OBJECTIVE:
To report on a case of Smith-Magenis syndrome (SMS) due to a rare small-scale deletion.
METHODS:
Muscle samples from the the third fetus was collected after the in Medical history and clinical data of the patient were collected. The child and his parents were subjected to chromosome karyotyping analysis, multiplex ligation-dependent probe amplification (MLPA) and copy number variation sequencing (CNV-seq).
RESULTS:
The child was found to have a normal karyotype. MLPA and CNV-seq detection showed that he has harbored a 1.22 Mb deletion and a 0.3 Mb duplication in the 17p11.2 region. Neither of his parents was found to have similar deletion or duplication.
CONCLUSION
The child was diagnosed with SMS due to a rare 1.22 Mb deletion in the 17p11.2 region, which is among the smallest deletions associated with this syndrome.
Abnormalities, Multiple/genetics*
;
Child
;
Chromosome Deletion
;
Chromosomes, Human, Pair 17
;
DNA Copy Number Variations
;
Humans
;
Intellectual Disability/genetics*
;
Male
;
Smith-Magenis Syndrome/genetics*
7.Research progress of circadian rhythm.
Jing WANG ; Wan-Ting HOU ; Xue-Mei QIN ; Guan-Hua DU ; Xiao-Xia GAO
China Journal of Chinese Materia Medica 2021;46(13):3240-3248
Circadian rhythm disorder is a common society issue caused by jet lag,shift work,sleep disruption and changes in food consumption. Light is the major factor affecting the circadian rhythm system. Disruption of the circadian rhythm system can cause damage to the body,leading to some diseases. Maintaining a normal circadian system is of great importance for good health. Ideal therapeutic effect can not only alleviate symptoms of the diseases,but also recovery the disturbed circadian rhythm to normal. The paper summarizes the modeling methods of animal circadian rhythm disorder,diseases of circadian rhythm abnormality,regulation of circadian clock genes and medicine which are related to circadian rhythm to diseases of circadian rhythm disorder.
Animals
;
Circadian Rhythm/genetics*
;
Humans
;
Jet Lag Syndrome/genetics*
;
Sleep
;
Sleep Disorders, Circadian Rhythm
8.Sleep disturbance associated with Smith-Magenis syndrome.
Chinese Journal of Medical Genetics 2021;38(12):1262-1265
Smith-Magenis syndrome (SMS) (OMIM #182290) is a rare genetic disorder with a prevalence of 1 in 25 000 live births. Approximately 90% of SMS patients have harbored a 3.7 Mb interstitial 17p11.2 deletion involving the RAI1 gene, while 10% of cases have carried pathogenic variants of the RAI1 gene. SMS is characterized by sleep disturbance, intellectual impairment, developmental delay, craniofacial and cardiovascular anomalies, obesity, self injury, aggressive and autistic-like behaviors. Most SMS patients have sleep disorders such as short total sleep time, frequent night waking, short sleep onset, and early morning waking. The sleep disturbance may aggravate with age and persist throughout life. Three mechanisms have been delineated. The first concern was the abnormal secretion of melatonin, with high levels during daytime and low levels at night. Evaluation of the integrity of the intrinsically photosensitive retinal ganglion cell (ipRGC)/melanopsin system has found that SMS patients showed dysfunction in the sustained component of the pupillary light responses to blue light. Synchronization of daily melatonin profile and its photoinhibition are dependent on the activation of melanopsin. Dysfunction of the retina-melanin system may be one of the causes of melatonin spectrum disorders. Secondly, dysregulation of circadian rhythm gene expression has also been noted in mice and SMS patients. Finally, there may be association between sleep deprivation symptoms and DNA methylation patterns, which has provided new insights for SMS-associated sleep disorders and symptoms alike. Treatment for SMS-related sleep disorders is administered primarily through medications like melatonin tablets, which can alleviate insomnia-related sleep difficulties, in particular externalizing behavior in children. Researchers are also actively exploring other treatments for SMS currently.
Animals
;
Circadian Rhythm
;
Humans
;
Melatonin
;
Mice
;
Sleep
;
Sleep Wake Disorders/genetics*
;
Smith-Magenis Syndrome/genetics*
9.Relationship between Circadian Rhythm Disorder of Blood Pressure and Ischemic Stroke.
Jian GE ; Ming Li HE ; Yi TANG ; Yu Meng LIU ; Jing JIN ; Dong ZHANG
Acta Academiae Medicinae Sinicae 2020;42(6):831-835
Hypertension plays an important role in the pathogenesis of stroke,which,however,is only known at the blood pressure level.The relationship between circadian rhythm of blood pressure(especially the circadian rhythm disorder of blood pressure)and stroke has been a hot research topic.This article reviews the concept of circadian rhythm of blood pressure,classification of circadian rhythm disorder of blood pressure,and the relationship of circadian rhythm disorder of blood pressure with ischemic stroke.
Blood Pressure
;
Brain Ischemia/complications*
;
Chronobiology Disorders/complications*
;
Circadian Rhythm
;
Humans
;
Hypertension/complications*
;
Ischemic Stroke/complications*
10.Genetic diagnosis of a child with Smith-Magenis syndrome.
Yue GAO ; Dong WU ; Xiaodong HUO ; Mengting ZHANG ; Qiaofang HOU ; Hongdan WANG ; Shixiu LIAO
Chinese Journal of Medical Genetics 2019;36(7):724-726
OBJECTIVE:
To explore the molecular mechanism of a girl with developmental delay and intellectual disability.
METHODS:
Chromosomal karotypes of the child and her parents were analyzed with routine G-banding method. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH) for chromosomal duplications/deletions.
RESULTS:
No karyotypic abnormality was detected in the child and her parents, while aCGH has identified a de novo 3.37 Mb deletion at 17p11.2 in the child.
CONCLUSION
The child was diagnosed with Smith-Magenis syndrome, for which RAI1 may be the causative gene.
Child
;
Chromosome Deletion
;
Chromosome Duplication
;
Chromosomes, Human, Pair 17
;
genetics
;
Comparative Genomic Hybridization
;
Female
;
Humans
;
Karyotyping
;
Smith-Magenis Syndrome
;
genetics

Result Analysis
Print
Save
E-mail