scholarly journals Developmental malformations-deafness-dystonia syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Developmental Malformations

scholarly journals Developmental malformations in Huntington disease: neuropathologic evidence of focal neuronal migration defects in a subset of adult brains

2021 ◽  
Vol 141 (3) ◽  
pp. 399-413 ◽  
Author(s):  
R. A. Hickman ◽  
P. L. Faust ◽  
M. K. Rosenblum ◽  
K. Marder ◽  
M. F. Mehler ◽  
...  
Keyword(s):  
New York ◽  
Huntington Disease ◽  
Trinucleotide Repeat ◽  
Validation Cohort ◽  
Hypothalamic Hamartoma ◽  
Discovery Cohort ◽  
Brain Bank ◽  
Neuronal Precursors ◽  
Neurodevelopmental Abnormalities ◽  
Developmental Malformations

AbstractNeuropathologic hallmarks of Huntington Disease (HD) include the progressive neurodegeneration of the striatum and the presence of Huntingtin (HTT) aggregates that result from abnormal polyQ expansion of the HTT gene. Whether the pathogenic trinucleotide repeat expansion of the HTT gene causes neurodevelopmental abnormalities has garnered attention in both murine and human studies; however, documentation of discrete malformations in autopsy brains of HD individuals has yet to be described. We retrospectively searched the New York Brain Bank (discovery cohort) and an independent cohort (validation cohort) to determine whether developmental malformations are more frequently detected in HD versus non-HD brains and to document their neuropathologic features. One-hundred and thirty HD and 1600 non-HD whole brains were included in the discovery cohort and 720 HD and 1989 non-HD half brains were assessed in the validation cohort. Cases with developmental malformations were found at 6.4–8.2 times greater frequency in HD than in non-HD brains (discovery cohort: OR 8.68, 95% CI 3.48–21.63, P=4.8 × 10-5; validation cohort: OR 6.50, 95% CI 1.83–23.17, P=0.0050). Periventricular nodular heterotopias (PNH) were the most frequent malformations and contained HTT and p62 aggregates analogous to the cortex, whereas cortical malformations with immature neuronal populations did not harbor such inclusions. HD individuals with malformations had heterozygous HTT CAG expansions between 40 and 52 repeats, were more frequently women, and all were asymmetric and focal, aside from one midline hypothalamic hamartoma. Using two independent brain bank cohorts, this large neuropathologic series demonstrates an increased occurrence of developmental malformations in HD brains. Since pathogenic HTT gene expansion is associated with genomic instability, one possible explanation is that neuronal precursors are more susceptible to somatic mutation of genes involved in cortical migration. Our findings further support emerging evidence that pathogenic trinucleotide repeat expansions of the HTT gene may impact neurodevelopment.

scholarly journals EFFICACY AND SENSITIVITY OF PRENATAL AND POSTNATAL ULTRASOUND SCREENING OF CONGENITAL DEVELOPMENTAL ANOMALIES OF KIDNEYS IN SLOVAKIA

2021 ◽  
Vol 74 (3) ◽  
pp. 450-454
Author(s):  
Oleksandr Ye. Dobrovanov
Keyword(s):  
Prenatal Diagnosis ◽  
Statistical Data ◽  
Slovak Republic ◽  
Congenital Defects ◽  
Ultrasound Screening ◽  
Urinary System ◽  
Developmental Anomalies ◽  
Sonographic Screening ◽  
Low Sensitivity ◽  
Developmental Malformations

The aim: To compare the effectiveness and sensitivity of prenatal and postnatal diagnostics in the diagnosis of congenital malformations of the urinary system in the Slovak Republic. Materials and methods: Data of postnatal sonographic screening of congenital developmental malformations of the urinary system in Slovak Republic including 2017 were identified and updated using a questionnaire survey, 38,496 newborns were involved. Statistical data on the proportion of prenatal diagnosis for the years 1995, 2000, 2005, 2008 and 2013-2016 were provided from the National Register of Congenital Defects. The chi2-test and t-test were applied to assess the sensitivity differences. Results: The study showed a low sensitivity of prenatal diagnosis with its maximum in 2016, reaching 32.3% and a minimum in 2005-2008 (8.0 – 8.4%). The sensitivity of postnatal diagnostics for selected years has always been a stable indicator and reaches 99.6%. Conclusions: Available statistical data confirm that prenatal diagnostics of congenital developmental malformations of the urinary system in the Slovak Republic is not perfect. Our work underlines the importance, or we should rather say inevitability of postnatal ultrasound screening for congenital developmental anomalies in the kidneys.

scholarly journals New insights into a spectrum of developmental malformations related to mTOR dysregulations: challenges and perspectives

2019 ◽  
Vol 235 (3) ◽  
pp. 521-542 ◽  
Author(s):  
A. Mühlebner ◽  
A. Bongaarts ◽  
H. B. Sarnat ◽  
T. Scholl ◽  
E. Aronica
Keyword(s):  
Developmental Malformations

Brain Developmental Malformations

2019 ◽  
pp. 1515-1539
Author(s):  
Marinos Kontzialis ◽  
Asim F. Choudhri ◽  
Thierry A. G. M. Huisman
Keyword(s):  
Developmental Malformations

Cognitive consequences of coexisting temporal lobe developmental malformations and hippocampal sclerosis

Neurology ◽  
2000 ◽  
Vol 54 (12) ◽  
pp. 2356-2356
Author(s):  
L. A. Mitchell ◽  
R. S. Briellmann ◽  
R. M. Kalnins ◽  
G. D. Jackson ◽  
R. Martin ◽  
...  
Keyword(s):  
Temporal Lobe ◽  
Hippocampal Sclerosis ◽  
Cognitive Consequences ◽  
Developmental Malformations

Blood serum amino acids of nonpregnant women who have given birth to children with gross developmental malformations

1970 ◽  
Vol 108 (8) ◽  
pp. 1213-1216
Author(s):  
Ireneusz Roszkowski ◽  
Janina Iwanska ◽  
Leopold Myszkowski ◽  
Jerzy Brzeski ◽  
Alicja Schmalhofer
Keyword(s):  
Amino Acids ◽  
Blood Serum ◽  
Serum Amino Acids ◽  
Developmental Malformations

scholarly journals Genetic Basis of Developmental Malformations of the Cerebral Cortex

2004 ◽  
Vol 61 (5) ◽  
pp. 637 ◽  
Author(s):  
Ganeshwaran H. Mochida ◽  
Christopher A. Walsh
Keyword(s):  
Cerebral Cortex ◽  
Genetic Basis ◽  
Developmental Malformations

Centralization of Pediatric Surgery in Hungary

2017 ◽  
Vol 27 (05) ◽  
pp. 429-430 ◽  
Author(s):  
András Pintér ◽  
Peter Vajda
Keyword(s):  
Surgical Management ◽  
Pediatric Surgery ◽  
Surgical Care ◽  
Point Of View ◽  
Infants And Children ◽  
Small Country ◽  
Live Births ◽  
The Past ◽  
Professional Needs ◽  
Developmental Malformations

AbstractSurgical management of the developmental malformations of newborns, infants, and children needs centralization not only from a professional point of view but because of financial reasons, too. During the past 2-3 decades, the reduction in the number of live births in Hungary and the increase in the changing of professional needs have witnessed the centralization of the more expensive, fragmented intensive/surgical care. In a relatively small country, like Hungary, centralization is essential.

Sign in / Sign up

Export Citation Format

Share Document