Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly

Author(s):  
Denise Horn ◽  
Elisa Fernández-Núñez ◽  
Ricardo Gomez-Carmona ◽  
Ana Rivera-Barahona ◽  
Julian Nevado ◽  
...  
Author(s):  
Inge Kamp-Becker ◽  
Klaus Baumann ◽  
Linda Sprenger ◽  
Katja Becker

Fragestellung: Die «Multiple complex developmental disorder» (MCDD) ist ein wenig bekanntes Störungsbild, das durch Auffälligkeiten in der Emotionsregulation, der sozialen Interaktion und Denkstörungen gekennzeichnet ist. Weder im Klassifikationssystem des ICD-10, noch im DSM-IV kommt diese Diagnose vor. Methodik: In der vorliegenden Arbeit wird eine Übersicht über die diagnostischen Kriterien und den aktuellen Forschungsstand zum Konzept der MCDD gegeben und anhand einer Kasuistik eines 17-jährigen Jugendlichen illustriert. Ergebnis: Das Störungsbild der MCDD weist Überschneidungen zu autistischen Störungen, aber auch zu Störungen aus dem schizophrenen Formenkreis auf. Eine klare Abgrenzung bzw. Zuordnung ist bisher nicht eindeutig möglich. Schlussfolgerungen: Viele Fragen bezüglich des Störungsbildes bleiben offen, weitere Forschung ist hier vonnöten.


Author(s):  
Peter R. Breggin

BACKGROUND: The vaccine/autism controversy has caused vast scientific and public confusion, and it has set back research and education into genuine vaccine-induced neurological disorders. The great strawman of autism has been so emphasized by the vaccine industry that it, and it alone, often appears in authoritative discussions of adverse effects of the MMR and other vaccines. By dismissing the chimerical vaccine/autism controversy, vaccine defenders often dismiss all genuinely neurological aftereffects of the MMR (measles, mumps, and rubella) and other vaccines, including well-documented events, such as relatively rare cases of encephalopathy and encephalitis. OBJECTIVE: This report explains that autism is not a physical or neurological disorder. It is not caused by injury or disease of the brain. It is a developmental disorder that has no physical origins and no physical symptoms. It is extremely unlikely that vaccines are causing autism; but it is extremely likely that they are causing more neurological damage than currently appreciated, some of it resulting in psychosocial disabilities that can be confused with autism and other psychosocial disorders. This confusion between a developmental, psychosocial disorder and a physical neurological disease has played into the hands of interest groups who want to deny that vaccines have any neurological and associated neuropsychiatric effects. METHODS: A review of the scientific literature, textbooks, and related media commentary is integrated with basic clinical knowledge. RESULTS: This report shows how scientific sources have used the vaccine/autism controversy to avoid dealing with genuine neurological risks associated with vaccines and summarizes evidence that vaccines, including the MMR, can cause serious neurological disorders. Manufacturers have been allowed by the US Food and Drug Administration (FDA) to gain vaccine approval without placebo-controlled clinical trials. CONCLUSIONS: The misleading vaccine autism controversy must be set aside in favor of examining actual neurological harms associated with vaccines, including building on existing research that has been ignored. Manufacturers of vaccines must be required to conduct placebo-controlled clinical studies for existing vaccines and for government approval of new vaccines. Many probable or confirmed neurological adverse events occur within a few days or weeks after immunization and could be detected if the trials were sufficiently large. Contrary to current opinion, large, long-term placebo-controlled trials of existing and new vaccines would be relatively easy and safe to conduct.


HortScience ◽  
1998 ◽  
Vol 33 (3) ◽  
pp. 536d-536
Author(s):  
Rina Kamenetsky

The influence of postharvest temperature on the flowering response of Eremurus was studied. The plants were harvested at four different stages of development and were separated into three groups. The first group was immediately exposed to 2 °C, the second group to 20 °C followed by 2 °C, and the third group to 20 °C followed by 32 °C and, subsequently, 2 °C. Scanning electron microscopy (SEM) was used for concurrent morphological analysis of floral development. Application of 2 °C to the plants in the initial stage of floral development caused plant destruction and death, while the same treatment applied at the stage of full differentiation promoted normal flowering. Temperatures of 20 °C and, especially, 32 °C, significantly improved flowering of the plants harvested in the early stages of florogenesis, whereas the same treatment applied to the plants harvested at the end of flower differentiation did not affect the flowering process. A developmental disorder, which we term “Interrupted Floral Development” (IFD), was observed only in the plants harvested when the racemes were fully differentiated. This was probably caused by the very high air and soil temperatures that prevail in Israel during the summer. The extent of floral differentiation has a determinant role in subsequent scape elongation and flowering.


Author(s):  
Rudi Fortson

This chapter examines the legal and practical issues encountered by practitioners when dealing with unfitness to plead litigation. As the Law Commission for England and Wales has pointed out, defendants charged with a criminal offence may be unfit to plead or to stand trial for a variety of reasons, including difficulties resulting from mental illness, learning disability, developmental disorder, or communication impairment. Two issues are considered: (i) how might those defendants who are unfit be accurately identified; and (ii) what steps should be taken by legal practitioners and by the courts of criminal jurisdiction to cater for the interests of vulnerable defendants, victims, and society, and to maintain the integrity of the legal process as one that is fair and just? The chapter evaluates the reform proposals of the English Law Commission and assesses how the law could be improved for all those who are involved in dealing with the unfit to plead.


Author(s):  
Shu Lih Oh ◽  
V. Jahmunah ◽  
N. Arunkumar ◽  
Enas W. Abdulhay ◽  
Raj Gururajan ◽  
...  

AbstractAutism spectrum disorder (ASD) is a neurological and developmental disorder that begins early in childhood and lasts throughout a person’s life. Autism is influenced by both genetic and environmental factors. Lack of social interaction, communication problems, and a limited range of behaviors and interests are possible characteristics of autism in children, alongside other symptoms. Electroencephalograms provide useful information about changes in brain activity and hence are efficaciously used for diagnosis of neurological disease. Eighteen nonlinear features were extracted from EEG signals of 40 children with a diagnosis of autism spectrum disorder and 37 children with no diagnosis of neuro developmental disorder children. Feature selection was performed using Student’s t test, and Marginal Fisher Analysis was employed for data reduction. The features were ranked according to Student’s t test. The three most significant features were used to develop the autism index, while the ranked feature set was input to SVM polynomials 1, 2, and 3 for classification. The SVM polynomial 2 yielded the highest classification accuracy of 98.70% with 20 features. The developed classification system is likely to aid healthcare professionals as a diagnostic tool to detect autism. With more data, in our future work, we intend to employ deep learning models and to explore a cloud-based detection system for the detection of autism. Our study is novel, as we have analyzed all nonlinear features, and we are one of the first groups to have uniquely developed an autism (ASD) index using the extracted features.


The Lancet ◽  
1998 ◽  
Vol 351 (9103) ◽  
pp. 637-641 ◽  
Author(s):  
AJ Wakefield ◽  
SH Murch ◽  
A Anthony ◽  
J Linnell ◽  
DM Casson ◽  
...  

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