Yam Code
Sign up
Login
New paste
Home
Trending
Archive
English
English
Tiếng Việt
भारत
Sign up
Login
New Paste
Browse
No statistically significant differences were found in birth weight, head circumference, small for gestational age status, gestational age, or preterm status among the two groups. CONCLUSION The Flint water crisis potentially exposed newborns to lead in utero, implicating maternal-fetal outcomes and future health and development. Primary prevention efforts, including identification and mitigation of lead exposure before conception and during pregnancy, are needed. New environmental exposure detection methods and long-term neurodevelopmental follow-up will complement the findings of this study. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.Patients with infantile Alexander disease (AxD) usually do not survive beyond their early teens without life support care because of progressive central hypoventilation. We present the autopsy report of a woman with infantile AxD carrying an R239C mutation in the glial fibrillary acidic protein gene, who survived 39 years. She presented with psychomotor retardation in infancy and regressed after age 5. Brain computed tomography scans showed bilateral low frontal white matter density. She became quadriplegic with bulbar palsy and was intellectually handicapped after a measles infection at age 7. Tube feeding was introduced because of dysphagia at age 15. Noninvasive positive pressure ventilation was required due to central hypoventilation in her early thirties. She died of neurogenic respiratory failure at 39 years. Autopsy findings revealed a markedly atrophic brain (709 g, -6.0 standard deviation), especially in the frontal lobe, cerebellum, and brainstem portions. We found demyelination, gliosis, and cystic lesions throughout the brain, and we saw Rosenthal fibers accumulating in the perivascular spaces. We also identified a variety of abnormalities in other organs such as pancreatic necrosis, completely desquamated epithelium in the lower esophagus and stomach, foreign-body giant cells in the colon submucosa, glomerular sclerosis, and multiple bladder stones. This is the first autopsied case report of a patient with infantile AxD with long survival, who showed not only central nervous system characteristic findings, but also unexpected pathological changes in other organs. Georg Thieme Verlag KG Stuttgart · New York.BACKGROUND Over 80% of individuals suffering from Rett syndrome (RTT) are affected over their life period by sleeping disorders. Little is known about the impact of those on the quality of life and a clinical approach to the treatment of sleep disturbances is lacking. AIMS Primary aim was to assess sleep quality in children and adults. Secondary aim was to assess behavioral disorders and their relationship to sleep quality. https://www.selleckchem.com/products/amg510.html The medication taken by the subjects was also included. METHODS Sleep quality and medication were assessed using the sleeping questionnaire for children with neurological and other complex diseases (SNAKE). Behavioral disorders were assessed by the Rett Syndrome Behavior Questionnaire (RSBQ). Questionnaires were sent to the 700 members of the Elternhilfe für Kinder mit Rett Syndrom in Deutschland e.V. (Rett Aid) of which 287 were included. Questionnaires were filled out by the primary caregivers. RESULTS Sleep quality was rated as very good to good by over 60% of caregivers in contrast to data available in the literature. Behavioral disorders related to regression such as loss of acquired hand skills (p = 0.046) and isolation (p = 0.002) were found to be associated with sleep quality. Melatonin showed a significant association (p = 0.007) with sleep quality. CONCLUSION Our study showed sleep dysfunction to be less prevalent in RTT-affected individuals than evidence from past studies has suggested. Nevertheless, this remains a subjective assessment of sleep quality and therefore the need to find objective, disorder-specific parameters that measure sleep quality in RTT patients persists. Georg Thieme Verlag KG Stuttgart · New York.OBJECTIVE To determine whether modified constraint-induced movement therapy (mCIMT) with continuous restraint is feasible and effective in improving the use of the paretic arm in the real world among infants and toddlers with unilateral cerebral palsy (CP). DESIGN Single-blind randomized controlled trial. SETTING Tertiary hospital. PARTICIPANTS Children aged 7 to 36 months with unilateral CP (N = 24; 16 boys, 8 girls). INTERVENTION The experimental group received 2-hour clinic-based mCIMT sessions (5 days per week for 3 weeks), and a continuous restraint was applied. MAIN OUTCOME MEASURES Standardized assessments were conducted. Peabody Developmental Motor Scales-2 (PDMS-2), Gross Motor Function Measure-66, Pediatric Motor Activity Log (PMAL), and Pediatric Evaluation of Disability Inventory were measured pre- and postintervention. Children who agreed to participate in the accelerometer study additionally wore accelerometers on both their wrists for 3 days before and after the intervention. RESULTS The mCIMT group exhibited greater improvement in PMAL-how often (p = 0.048; ηp2 = 0.173), PMAL-how well (p = 0.008; ηp2 = 0.289), and PDMS-2 visual motor integration (p = 0.014; ηp2 = 0.256) posttreatment than the control group. The percentage of time in moderate-to-vigorous physical activity (z = -2.24; p = 0.03) and vector magnitude average counts (z = -2.52; p = 0.01) significantly increased in children in who wore accelerometers (N = 8) after the 3-week mCIMT protocol. CONCLUSION mCIMT with continuous restraint applied to infants and toddlers with unilateral CP appeared to have a positive effect on paretic hand use in the real world. CLINICAL TRIAL REGISTRATION NUMBER NCT03418519. Georg Thieme Verlag KG Stuttgart · New York.Cutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability. Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosomal recessive or de novo pathogenic variants in ALDH18A1. Autosomal recessive variants are known to lead to the most severe neurological phenotype, and very few patients have been described.We describe a 13-month-old patient with cutis laxa, autosomal recessive, type IIIA, with an extremely severe phenotype, including novel neurological findings. This description enlarges the neurological spectrum associated to cutis laxa, autosomal recessive, type IIIA, and provides an additional description of this syndrome. Georg Thieme Verlag KG Stuttgart · New York.
Paste Settings
Paste Title :
[Optional]
Paste Folder :
[Optional]
Select
Syntax Highlighting :
[Optional]
Select
Markup
CSS
JavaScript
Bash
C
C#
C++
Java
JSON
Lua
Plaintext
C-like
ABAP
ActionScript
Ada
Apache Configuration
APL
AppleScript
Arduino
ARFF
AsciiDoc
6502 Assembly
ASP.NET (C#)
AutoHotKey
AutoIt
Basic
Batch
Bison
Brainfuck
Bro
CoffeeScript
Clojure
Crystal
Content-Security-Policy
CSS Extras
D
Dart
Diff
Django/Jinja2
Docker
Eiffel
Elixir
Elm
ERB
Erlang
F#
Flow
Fortran
GEDCOM
Gherkin
Git
GLSL
GameMaker Language
Go
GraphQL
Groovy
Haml
Handlebars
Haskell
Haxe
HTTP
HTTP Public-Key-Pins
HTTP Strict-Transport-Security
IchigoJam
Icon
Inform 7
INI
IO
J
Jolie
Julia
Keyman
Kotlin
LaTeX
Less
Liquid
Lisp
LiveScript
LOLCODE
Makefile
Markdown
Markup templating
MATLAB
MEL
Mizar
Monkey
N4JS
NASM
nginx
Nim
Nix
NSIS
Objective-C
OCaml
OpenCL
Oz
PARI/GP
Parser
Pascal
Perl
PHP
PHP Extras
PL/SQL
PowerShell
Processing
Prolog
.properties
Protocol Buffers
Pug
Puppet
Pure
Python
Q (kdb+ database)
Qore
R
React JSX
React TSX
Ren'py
Reason
reST (reStructuredText)
Rip
Roboconf
Ruby
Rust
SAS
Sass (Sass)
Sass (Scss)
Scala
Scheme
Smalltalk
Smarty
SQL
Soy (Closure Template)
Stylus
Swift
TAP
Tcl
Textile
Template Toolkit 2
Twig
TypeScript
VB.Net
Velocity
Verilog
VHDL
vim
Visual Basic
WebAssembly
Wiki markup
Xeora
Xojo (REALbasic)
XQuery
YAML
HTML
Paste Expiration :
[Optional]
Never
Self Destroy
10 Minutes
1 Hour
1 Day
1 Week
2 Weeks
1 Month
6 Months
1 Year
Paste Status :
[Optional]
Public
Unlisted
Private (members only)
Password :
[Optional]
Description:
[Optional]
Tags:
[Optional]
Encrypt Paste
(
?
)
Create New Paste
You are currently not logged in, this means you can not edit or delete anything you paste.
Sign Up
or
Login
Site Languages
×
English
Tiếng Việt
भारत