Purpose: Cotard’s syndrome, Alice in Wonderland Syndrome, and Catatonia are all rare psychiatric disorders that have relatively little research regarding their treatments. The aim of this article is to highlight any ...Purpose: Cotard’s syndrome, Alice in Wonderland Syndrome, and Catatonia are all rare psychiatric disorders that have relatively little research regarding their treatments. The aim of this article is to highlight any gaps in knowledge regarding represented demographics in these treatment studies, and to discuss the current and upcoming treatment options. Background: This literature review explores under-researched psychiatric conditions: Cotard’s syndrome, Alice in Wonderland syndrome, and Catatonic Schizophrenia. Understanding psychiatric disorders requires basic knowledge of brain anatomy. These conditions are often result of or associated with neurological issues, such as migraines or tumors. The brain has eight lobes, two of four kinds: frontal, parietal, occipital, and temporal lobes, which all govern different functions and abilities. Frontal lobes control judgment, decision-making, personality traits, and fine motor movements. Parietal lobes interpret pain and temperature, occipital lobes handle visual stimuli, and temporal lobes enable hearing. The pre-frontal cortex is associated with high intelligence, psychotic traits, and psychosis. The Broca’s Area in the frontal lobes controls expressive language. These areas and divisions of the brain contribute to the complexity of the psychiatric disorders discussed in this review. Introduction: Cotard’s syndrome is a psychiatric disorder characterized by delusions of being dead or not having certain limbs or organs. It is believed that there is a disconnect between their fusiform face area and the amygdala, causing a lack of familiarity between one’s mind and body. Alice in Wonderland Syndrome (AIWS) is another psychiatric disorder which is characterized by visual hallucinations, such as distorted perceptions of color, size, distance, and speed. The most common symptoms include micropsia and macropsia. Catatonia/Catatonic Schizophrenia is an uncommon type of schizophrenia. This type of schizophrenia is characterized by motor rigidity, verbal rigidity, the flat effect, psychomotor retardation, waxy flexibility, and overall negative symptoms. Thus, these people may come off as emotionally detached, and able to stay frozen in odd positions for periods on end. Treatments and Results: Cotard’s syndrome seemed to be most effectively treated by ECT (electroconvulsive therapy). Alice in Wonderland Syndrome (AIWS) had the highest positive responses to treatment by Valproate (an anti-epileptic drug), as well as intervention to treat the associated neurological conditions they had. Catatonia/Catatonic Schizophrenia seemed to be most effectively treated with a combination of benzodiazepines and ECT. Discussion and Demographics: In all 3 disorders, the Latino and African communities were underrepresented. There also seemed to be an underrepresentation of men in Cotard’s syndrome, and of women in Alice in Wonderland Syndrome. Japan and India seemed to have the highest density of treatment studies in all 3 disorders.展开更多
BACKGROUND Synovial chondromatosis(SC)is a rare benign lesion first reported by Ambrose Pare in 1558.It is most common in the knee joint,followed by the hip joint and elbow joint.It is characterized by the presence of...BACKGROUND Synovial chondromatosis(SC)is a rare benign lesion first reported by Ambrose Pare in 1558.It is most common in the knee joint,followed by the hip joint and elbow joint.It is characterized by the presence of multiple pearl-like osteochondral bodies in the joint.The incidence in children is extremely low.CASE SUMMARY We report a 6-year-old Chinese boy who presented to our hospital with left hip joint pain and claudication for more than one year.We performed total surgical resection of SC tissue in the left hip.A good prognosis was confirmed at the 6-wk follow-up.Pain and swelling symptoms were totally relieved,range of motion of his left hip returned to normal,and there was no clinical evidence of lesion recurrence at last follow-up.Our case is the youngest reported patient with SC occurring in the hip.CONCLUSION SC is a rare disease and can be easily misdiagnosed.When we encounter children with hip pain and claudication,increased vigilance and a comprehensive physical examination and imaging examination should be considered,in order to avoid misdiagnosis and delayed treatment in patients.展开更多
BACKGROUND Rosai-Dorfman disease(RDD),or sinus histiocytosis with massive lymphadenopathy,is a benign histiocytic disorder.Extranodal involvement is common,occurring in>40%of patients,but bone involvement occurs in...BACKGROUND Rosai-Dorfman disease(RDD),or sinus histiocytosis with massive lymphadenopathy,is a benign histiocytic disorder.Extranodal involvement is common,occurring in>40%of patients,but bone involvement occurs in<10%of cases.In addition,primary bone RDD is extremely rare.The majority of patients are adolescents and young adults,and the mean age at onset is 20-years-old.CASE SUMMARY We report an 8-year-old Chinese girl who presented to our hospital with an insidious onset of swelling and pain in the middle shaft of her right tibia for 4 mo.We performed total surgical resection of the right tibia lesion and allograft transplantation.A good prognosis was confirmed at the 6 mo follow-up.Pain and swelling symptoms were totally relieved,range of motion of her right knee and ankle returned to normal,and there was no clinical evidence of lesion recurrence at last follow up.Our case is the second reported case of osseous RDD without lymphadenopathy in the shaft of the tibia of a child.CONCLUSION Extranodal RDD is a rare disease and can be misdiagnosed easily.Lesion resection and allograft transplantation are an option to treat extranodal RDD in children with good short term result.Pediatric orthopedist should be aware of this rare disease,especially extranodal involvement.展开更多
The explosion of next-generation sequencing(NGS)has enabled the widespread use of genomic data in precision medicine.Currently,several neonatal genome projects have emerged to explore the advantages of NGS to diagnose...The explosion of next-generation sequencing(NGS)has enabled the widespread use of genomic data in precision medicine.Currently,several neonatal genome projects have emerged to explore the advantages of NGS to diagnose or screen for rare genetic disorders.These projects have made remarkable achievements,but still the genome data could be further explored with the assistance of phenotype collection.In contrast,longitudinal birth cohorts are great examples to record and apply phenotypic information in clinical studies starting at the neonatal period,especially the trajectory analyses for health development or disease progression.It is obvious that efficient integration of genotype and phenotype benefits not only the clinical management of rare genetic disorders but also the risk assessment of complex diseases.Here,we first summarize the recent neonatal genome projects as well as some longitudinal birth cohorts.Then,we propose two simplified strategies by integrating genotypic and phenotypic information in precision medicine based on current studies.Finally,research collaborations,sociological issues,and future perspectives are discussed.How to maximize neonatal genomic information to benefit the pediatric population remains an area in need of more research and effort.展开更多
Myofibrillar myopathies(MFMs)are rare genetic and slowly progressive neuromuscular disorders.Several pathogenic mutations have been reported in MFM-related genes including DES,CRYAB,MYOT,LDB3 or ZASP,FLNC,BAG3,FHL1 an...Myofibrillar myopathies(MFMs)are rare genetic and slowly progressive neuromuscular disorders.Several pathogenic mutations have been reported in MFM-related genes including DES,CRYAB,MYOT,LDB3 or ZASP,FLNC,BAG3,FHL1 and DNAJB6.Although MFMs is commonly inherited in an autosomal dominant manner,the inheritance pattern and novel mutated genes are not thoroughly elucidated in some cases.Here,we report discovery of a novel nonsense mutation in a 29-year-old Iranian male patient with motor disorders and deformity in his lower limbs.His parents are second cousins.Hereditary Motor Sensory Neuropathy as initial genetic diagnosis was ruled out.Whole exome sequencing using NGS on Illumina Hi-Seq4000 platform was performed to identify the disease and possible mutated gene(s).Our data analysis identified a homozygous nonsense unreported c.C415T(p.R139X)variant on kyphoscoliosis peptidase(KY)gene(NM_178554:exon4).Sanger sequencing of this mutation has been performed for his other related family members.Sequencing and segregation analysis was confirmed the NGS results and autosomal recessive inheritance pattern of the disease.展开更多
文摘Purpose: Cotard’s syndrome, Alice in Wonderland Syndrome, and Catatonia are all rare psychiatric disorders that have relatively little research regarding their treatments. The aim of this article is to highlight any gaps in knowledge regarding represented demographics in these treatment studies, and to discuss the current and upcoming treatment options. Background: This literature review explores under-researched psychiatric conditions: Cotard’s syndrome, Alice in Wonderland syndrome, and Catatonic Schizophrenia. Understanding psychiatric disorders requires basic knowledge of brain anatomy. These conditions are often result of or associated with neurological issues, such as migraines or tumors. The brain has eight lobes, two of four kinds: frontal, parietal, occipital, and temporal lobes, which all govern different functions and abilities. Frontal lobes control judgment, decision-making, personality traits, and fine motor movements. Parietal lobes interpret pain and temperature, occipital lobes handle visual stimuli, and temporal lobes enable hearing. The pre-frontal cortex is associated with high intelligence, psychotic traits, and psychosis. The Broca’s Area in the frontal lobes controls expressive language. These areas and divisions of the brain contribute to the complexity of the psychiatric disorders discussed in this review. Introduction: Cotard’s syndrome is a psychiatric disorder characterized by delusions of being dead or not having certain limbs or organs. It is believed that there is a disconnect between their fusiform face area and the amygdala, causing a lack of familiarity between one’s mind and body. Alice in Wonderland Syndrome (AIWS) is another psychiatric disorder which is characterized by visual hallucinations, such as distorted perceptions of color, size, distance, and speed. The most common symptoms include micropsia and macropsia. Catatonia/Catatonic Schizophrenia is an uncommon type of schizophrenia. This type of schizophrenia is characterized by motor rigidity, verbal rigidity, the flat effect, psychomotor retardation, waxy flexibility, and overall negative symptoms. Thus, these people may come off as emotionally detached, and able to stay frozen in odd positions for periods on end. Treatments and Results: Cotard’s syndrome seemed to be most effectively treated by ECT (electroconvulsive therapy). Alice in Wonderland Syndrome (AIWS) had the highest positive responses to treatment by Valproate (an anti-epileptic drug), as well as intervention to treat the associated neurological conditions they had. Catatonia/Catatonic Schizophrenia seemed to be most effectively treated with a combination of benzodiazepines and ECT. Discussion and Demographics: In all 3 disorders, the Latino and African communities were underrepresented. There also seemed to be an underrepresentation of men in Cotard’s syndrome, and of women in Alice in Wonderland Syndrome. Japan and India seemed to have the highest density of treatment studies in all 3 disorders.
基金Supported by Natural Science Foundation of Hunan Province,No.2019JJ50324.
文摘BACKGROUND Synovial chondromatosis(SC)is a rare benign lesion first reported by Ambrose Pare in 1558.It is most common in the knee joint,followed by the hip joint and elbow joint.It is characterized by the presence of multiple pearl-like osteochondral bodies in the joint.The incidence in children is extremely low.CASE SUMMARY We report a 6-year-old Chinese boy who presented to our hospital with left hip joint pain and claudication for more than one year.We performed total surgical resection of SC tissue in the left hip.A good prognosis was confirmed at the 6-wk follow-up.Pain and swelling symptoms were totally relieved,range of motion of his left hip returned to normal,and there was no clinical evidence of lesion recurrence at last follow-up.Our case is the youngest reported patient with SC occurring in the hip.CONCLUSION SC is a rare disease and can be easily misdiagnosed.When we encounter children with hip pain and claudication,increased vigilance and a comprehensive physical examination and imaging examination should be considered,in order to avoid misdiagnosis and delayed treatment in patients.
基金Supported by Natural Science Foundation of Hunan Province,China,No.2019JJ50324.
文摘BACKGROUND Rosai-Dorfman disease(RDD),or sinus histiocytosis with massive lymphadenopathy,is a benign histiocytic disorder.Extranodal involvement is common,occurring in>40%of patients,but bone involvement occurs in<10%of cases.In addition,primary bone RDD is extremely rare.The majority of patients are adolescents and young adults,and the mean age at onset is 20-years-old.CASE SUMMARY We report an 8-year-old Chinese girl who presented to our hospital with an insidious onset of swelling and pain in the middle shaft of her right tibia for 4 mo.We performed total surgical resection of the right tibia lesion and allograft transplantation.A good prognosis was confirmed at the 6 mo follow-up.Pain and swelling symptoms were totally relieved,range of motion of her right knee and ankle returned to normal,and there was no clinical evidence of lesion recurrence at last follow up.Our case is the second reported case of osseous RDD without lymphadenopathy in the shaft of the tibia of a child.CONCLUSION Extranodal RDD is a rare disease and can be misdiagnosed easily.Lesion resection and allograft transplantation are an option to treat extranodal RDD in children with good short term result.Pediatric orthopedist should be aware of this rare disease,especially extranodal involvement.
基金the Ministry of Science and Technology National Key Research and Development Program(2020YFC2006402)a Project supported by Shanghai Municipal Science and Technology Major Project(2017SHZDZX01).
文摘The explosion of next-generation sequencing(NGS)has enabled the widespread use of genomic data in precision medicine.Currently,several neonatal genome projects have emerged to explore the advantages of NGS to diagnose or screen for rare genetic disorders.These projects have made remarkable achievements,but still the genome data could be further explored with the assistance of phenotype collection.In contrast,longitudinal birth cohorts are great examples to record and apply phenotypic information in clinical studies starting at the neonatal period,especially the trajectory analyses for health development or disease progression.It is obvious that efficient integration of genotype and phenotype benefits not only the clinical management of rare genetic disorders but also the risk assessment of complex diseases.Here,we first summarize the recent neonatal genome projects as well as some longitudinal birth cohorts.Then,we propose two simplified strategies by integrating genotypic and phenotypic information in precision medicine based on current studies.Finally,research collaborations,sociological issues,and future perspectives are discussed.How to maximize neonatal genomic information to benefit the pediatric population remains an area in need of more research and effort.
文摘Myofibrillar myopathies(MFMs)are rare genetic and slowly progressive neuromuscular disorders.Several pathogenic mutations have been reported in MFM-related genes including DES,CRYAB,MYOT,LDB3 or ZASP,FLNC,BAG3,FHL1 and DNAJB6.Although MFMs is commonly inherited in an autosomal dominant manner,the inheritance pattern and novel mutated genes are not thoroughly elucidated in some cases.Here,we report discovery of a novel nonsense mutation in a 29-year-old Iranian male patient with motor disorders and deformity in his lower limbs.His parents are second cousins.Hereditary Motor Sensory Neuropathy as initial genetic diagnosis was ruled out.Whole exome sequencing using NGS on Illumina Hi-Seq4000 platform was performed to identify the disease and possible mutated gene(s).Our data analysis identified a homozygous nonsense unreported c.C415T(p.R139X)variant on kyphoscoliosis peptidase(KY)gene(NM_178554:exon4).Sanger sequencing of this mutation has been performed for his other related family members.Sequencing and segregation analysis was confirmed the NGS results and autosomal recessive inheritance pattern of the disease.
