Medicine international最新文献

Malignant giant cell tumor of bone (GCTB) is identified by the presence of multinucleated giant cells, with an aggressive behavior and a high risk of metastasis, which has not been genetically characterized in detail. H3 histone family member 3A (H3F3A) gene mutations are highly recurrent and specific in GCTB. The present study analyzed the clinical information and genomic sequencing data of eight cases of malignant GCTB (out of 384 bone sarcoma samples) using an anonymized genomic database. There were 5 males and 3 females among the cases, with a median age of 33 years at the time of the initial diagnosis. H3F3A G34W and G34L mutations were detected in 3 patients and 1 patient, respectively. In 75% of cases without H3F3A mutation, mitogen-activated protein kinase (MAPK) signaling pathway gene alterations were found (KRAS single nucleotide variant, KRAS amplification, nuclear respiratory factor 1-BRAF fusion). Moreover, the collagen type I alpha 2 chain-ALK fusion was detected in remaining one case. The most frequent gene alterations were related to cell cycle regulators, including TP53, RB1, cyclin-dependent kinase inhibitor 2A/B and cyclin E1 (75%, 6 of 8 cases). On the whole, the present study discovered recurrent MAPK signaling gene alterations or other gene alterations in cases of malignant GCTB. Of note, two fusion genes should be carefully validated following the pathology re-review by sarcoma pathologists. These two fusion genes may be detected in resembling tumors, which contain giant cells, apart from malignant GCTB. The real-world data used herein provide a unique perspective on genomic alterations in clinicopathologically diagnosed malignant GCTB.

The abducens nerve (sixth cranial nerve) is essential for lateral eye movement, and its malfunction can cause a variety of issues with vision. Pseudo-abducens palsy is a rare neurological condition that causes a limitation in eye abduction, while the abducens nerve is still functioning. Thalamic pain syndrome, a severe complication of cerebrovascular events, presents as intense neuropathic pain provoked by temperature fluctuations. Although thalamic strokes are infrequently associated with ocular abnormalities, some studies suggest an association between isolated pseudo-abducens palsy and thalamic infarctions. The present study describes the case of a 38-year-old male patient with 1-day progressive diplopia and occipital headache who had abducens palsy on the left side as a result of a right thalamic infarction. The patient had a 10-year history of smoking and a 1-year history of hypertension, which was poorly controlled. The diagnosis was supported by a neurological examination, imaging and stroke etiology investigations. The patient recovered well within 5 days, highlighting the good prognosis of an acute thalamic presentation. In addition, a mini-review of the literature was performed and two similar reports were identified upon searching the literature using the Embase, Google Scholar, Lilacs, Medline, SciELO and ScienceDirect databases. On the whole, the present study demonstrates that understanding the complex neuronal connections inside the thalamus is critical for a proper diagnosis and appropriate intervention strategies in patients with thalamic stroke with oculomotor impairments. Further research is required to elucidate the underlying causes and develop treatment techniques for thalamic infarction consequences.