Case presentation: We present a case of a neonate with hypotrophy, microcephaly, frostbite-like skin lesions, thrombocytopenia, elevated liver enzymes and hepatosplenomegaly. Magnetic resonance imaging (MRI) of the brain showed multiple foci of calcification, white matter changes, cerebral ...
Currently, fetal subependymal cysts are mainly considered to be caused by intrauterine infection. However, the intrauterine infec- tion indicators of the pregnant woman in this study were negative. As mentioned above, AGS mostly has an intra- uterine viral infection-like phenotype, and the patho-...
We also used a method based on the theoretical work of Durham and Feingold (1997), to estimate the probability that the homozygosity observed in the Norwegian pedigree is a false positive (i.e., a chance occurrence, not caused by linkage to the disease locus). We applied equations 1 and ...
Noonan syndrome and related disorders are caused by germline mutations in genes encoding molecules in the RAS/MAPK pathway. Recently, a gain-of-function mutation in SHOC2, p.S2G, has been identified as causative for a type of Noonan-like syndrome characterized by the presence of loose anagen ...
which has led to a shortage of high-quality data. Despite working in the largest EMRs system, we faced the problem of multiple defects in filling out the documentation. The EMRs were not sufficiently structured, which caused difficulties in finding and extracting the necessary indicators. Therefore...
9、used by long time surgery and spinal cord injury; in addition, due to the blocking of heparin induced gas the thrombus, diving causes embolism, vasculitis caused by arterial and venous.(3) excessive high temperature and low temperature, frostbite or overheating can cause rhabdomyolysis.(4) el...
Phrenic nerve palsymost commonly is caused by compression or invasion of the nerve by a neoplasm. Other causes include trauma (natural or surgical), phrenic “frostbite” after cardiac surgery,herpes zoster infection, andcervical spondylosis.
A woman is admitted to the hospital with Bell's palsy caused by an inflamed facial nerve. What symptoms will you, as the attending physician, observe, and how would you test her facial nerve? (a) What are the signs and symptoms of Bell's palsy? (b) What is the duration of Bell...
Acroosteolysis can be secondary to autoimmune disorders, such as scleroderma, systemic lupus erythematosus, Sjogren’s syndrome, rheumatoid arthritis and Raynaud’s disease; frostbite and injuries; neuropathies; diabetes mellitus; porphyria and psoriasis [19]. Osteoporosis, primary and secondary, should ...
First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant 2024, European Journal of Medical Genetics Citation Excerpt : This is significant because the Notch signaling pathway plays a crucial role in embryonic development. Through gene sequencing research, ...