نتایج جستجو برای: central hypotonia
تعداد نتایج: 471786 فیلتر نتایج به سال:
To analyze the relationship between arginine and blood ammonia, nutritional status, immunity, and to explore the regulating function of arginine in cerebral palsy infants with muscle hypotonia. We chose 96 cases with muscle hypotonia cerebral palsy from January 2009 to January 2012 in rehabilitation center of Zhengzhou children hospital as the research object, using the questionnaire survey to ...
objective prader-willi syndrome (pws) is a genetic syndrome presenting with severe hypotonia and decreased agility. growth hormone (gh), which is often used in these patients to treat short stature and obesity, seems improve hypotonia, physical strength, activity, and locomotor developmental ability. the aim of this study was to find the effects of growth hormone on agility and strength of thes...
Case presentation: 5-year-old girl, born from a consanguineous couple, is referred to our service due weakness and hypotonia. It was necessary hospitalization, after birth, respiratory insufficiency severe motor delay already evident in the first months of life. At 6 she did not have head control at 12 able sit without support. She developed problems with apneas hypercapnia, 3 years age, that t...
Case presentation: 17-year-old female patient, single child of non-consanguineous healthy parents. The pregnancy and delivery were uneventful. She presented a normal psychomotor development until 4 months age, when she started with epileptic seizures evolved central hypotonia, appendicular hypertonia, dystonia. After, autistic features, stereotypies, lack response to pain, self-harm did not dev...
Case presentation: G.D.V.S, a male neonate, was admitted into the neonatal intensive care unit due to respiratory insufficiency. On his sixth day of life, patient presented with series tonic movements and spasm in upper inferior limbs, followed by an approximate five-minute duration, apnea central cyanosis. He had term complication-free pregnancy. admission, could be noted global hypotonia, dif...
The term hypomelanosis of Ito (HI) is applied to individuals with skin hypopigmentation along the lines of Blaschko. Although it was originally described as a purely cutaneous disease, subsequent studies describing HI reported a 33% to 94% association with multiple extracutaneous manifestations, mostly of the central nervous and musculoskeletal systems. This leads to characterization of HI as a...
Menkes disease (MD) (OMIM: 309400) is also known as kinky hair disease, trichopoliodystrophy, and steely hair. A 7-months-old, male infant presented to our outpatient department in June 2016 with history of developmental delay and seizures. Seizures started at 3 months of age and worsened progressively to clusters of extensor spasms. Physical examination showed sparse and kinky hair. Neurologic...
Using whole-exome sequencing, we identified seven unrelated individuals with global developmental delay, hypotonia, dysmorphic facial features, and an increased frequency of short stature, ataxia, and autism with de novo heterozygous frameshift, nonsense, splice, and missense variants in the Early B-cell Transcription Factor Family Member 3 (EBF3) gene. EBF3 is a member of the collier/olfactory...
Reports of constitutional ring chromosome 22, r(22) are rare. Individuals with r(22) present similar features as those with the 22q13 deletion syndrome. The instability in the ring chromosome contributes to the development of variable phenotypes. Central nervous system (CNS) atypical teratoid rhabdoid tumors (ATRTs) are rare, highly malignant tumors, primarily occurring in young children below ...
Prader-Willi syndrome (PWS) is a sporadic disorder of chromosome abnormalities with an estimated prevalence of 1 in 15,000. It mainly affects the central nervous system, and often involves the hypothalamus. Both general and regional anesthesia for these patients is difficult mainly due to morbid obesity. Other common problems include hypotonia, disturbance in thermoregulation, arrhythmia, cor p...
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