Case report: Diagnosis of primary Klebsiella pneumoniae in cervical spine by metagenomic sequencing
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ABSTRACT:
PROVIDER: PRJEB48725 | ENA |
REPOSITORIES: ENA
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Project description:Accurate diagnoses are crucial in determining the most effective treatment across different cancers. In challenging cases, morphology-based traditional pathology methods have important limitations, while molecular profiling can provide valuable information to guide clinical decisions. We present a 35-year female with lung cancer with choriocarcinoma features. Her disease involved the right lower lung, brain, and thoracic lymph nodes. The pathology from brain metastasis was reported as “metastatic choriocarcinoma” (a germ cell tumor) by local pathologists. She initiated carboplatin and etoposide, a regimen for choriocarcinoma. Subsequently, her case was assessed by pathologists from an academic cancer center, who gave the diagnosis of “adenocarcinoma with aberrant expression of β-hCG” and finally pathologists at our hospital, who gave the diagnosis of “poorly differentiated carcinoma with choriocarcinoma features”. Genomic profiling detected a KRAS G13R mutation and transcriptomics profiling was suggestive of lung origin. The patient was treated with carboplatin/paclitaxel/ipilimumab/nivolumab followed by consolidation radiation therapy. She had no evidence of progression to date, 13 months after the initial presentation. The molecular profiling could facilitate diagnosing of challenging cancer cases. In addition, chemoimmunotherapy and local consolidation radiation therapy may provide promising therapeutic options for patients with lung cancer exhibiting choriocarcinoma features.
2024-03-14 | GSE261551 | GEO
Project description:Background and Importance Primary leptomeningeal melanoma (PLM) is highly malignant and exceedingly rare. Due to its rarity, diagnostic and treatment paradigms have been slow to evolve. We report the first case of a PLM that mimics a cervical spine meningioma and then discuss the current clinical, radiologic, and pathologic diagnostic methodologies as well as expected outcomes related to this disease. Clinical Presentation A 54-year-old woman presented a dural-based extramedullary solid mass ventral to the C2-C3 spinal cord causing spinal cord compression without cord signal changes, characteristic of meningioma. Intraoperative microscopic inspection revealed numerous black spots littering the surface of the dura; the tumor itself was yellow in appearance and had a soft consistency. Pathologic analysis of the specimen revealed a malignant melanin-containing tumor. No primary site was found, so a diagnosis of primary leptomeningeal melanoma was made, and the patient subsequently received interferon therapy. To date (2 years postoperatively), no local or systemic recurrence of the tumor has been identified. Conclusion As with most rare tumors, case reports constitute the vast majority of references to PLM. Only an increased awareness and an extensive report of each individual case can help diagnose and clarify the nature of PLM. Clinicians need to be aware of such malignant conditions when diagnosing benign tumoral lesions of the spine such as meningiomas.
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Project description:Study Design Case report. Objective The purpose of this work is to report the case of a giant cell tumor involving the second cervical vertebra in a pediatric patient. Surgical management included a combined posterior and anterior cervical approach. There has been no recurrence in 2 years of follow-up. Case Report A 13-year-old girl presented with scoliosis with incidentally lytic lesion involving the second cervical vertebra. The radiologic investigations and biopsy result indicated a giant cell tumor of the bone. A combined posterior and anterior cervical approach was performed to resect the lesion, reconstruct the spine, and restore stability. Two years of follow-up revealed no recurrence of the lesion with stable reconstruction of the spine. Results The lesion was surgically managed for excision and spinal fusion by combining a posterior occipitocervical arthrodesis with an anterior retropharyngeal cervical approach. The final histopathology result confirmed a giant cell tumor of the bone. Conclusions Giant cell tumor involving the second cervical vertebra is uncommon; this tumor can be managed surgically by using a combined posterior and anterior cervical retropharyngeal approach. The presented case was unique in terms of the tumor location, patient age, and surgical management.
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Project description:Case Report: Tuberculosis Diagnosis of Patients with Malignant Hematological Disease via Metagenomic Next-Generation Sequencing
| PRJEB44258 | ENA
Project description:IntroductionSpinal cord injury after manual manipulation of the cervical spine is rare and has never been described resulting from a patient performing a manual manipulation on their own cervical spine. To the best of our knowledge, this is the first well-documented case of this association.Case presentationA healthy 29-year-old man developed Brown-Sequard syndrome immediately after performing a manipulation on his own cervical spine. Imaging showed large disc herniations at the levels of C4-C5 and C5-C6 with severe cord compression, so the patient underwent emergent surgical decompression. He was discharged to an acute rehabilitation hospital, where he made a full functional recovery by postoperative day 8.ConclusionThis case highlights the benefit of swift surgical intervention followed by intensive inpatient rehab. It also serves as a warning for those who perform self-cervical manipulation.
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Project description:The cellular origin of cervical cancers remains unclear. Revealing molecular details of transformation in this tissue has been hampered by the lack of culture systems, resembling the in vivo cervical architecture. Here we established a long-term in vitro 3D cervical organoid model derived from stem cells of human or mouse cervical tissue which recapitulates the in vivo stratified ectocervical and columnar endocervical epithelium. Stratified and columnar cervical epithelia arise from two discrete unipotent stem cell populations of the endocervix. Unique stem cell signatures reveal a dependency on intrinsic Notch and Wnt microenvironmental signals. The genetic signatures of KRT5+ stratified vs KRT7+ columnar cervical cells establish discrete groups of cervical cancer of the squamous and adenocarcinoma types, respectively. Cervical tissue morphology is guided by the interplay of two discrete unipotent cervical stem cell populations and the spatio-temporal distribution of signals from the stroma.
2019-09-01 | GSE87075 | GEO
Project description:BackgroundCerebrospinal fluid leakage can cause abducens nerve palsy (ANP) secondary to downward brain traction, caused by intracranial hypotension. We present the first case after cervical fixation and fusion with spinal cord decompression.Case descriptionWe present a 65-year-old male, who undergone C5-C6 decompression by laminectomy and C3-T2 fixation and fusion, without intraoperative complications. Two months later, the patient referred a 2-week history of diplopia, with no other accompanying symptom. Clinical examination revealed a lack of lateral gaze of the left eye. Cervical MRI disclosed findings compatible with pseudomeningocele. Given the time of evolution, the subacute clinical findings and the absence of image or clinical data of infection or intracranial hypotension, we decided to perform conservative treatment. We submitted the patient to periodic clinical examinations and we confirmed progressive clinical improvement of diplopia, in association with neurologic and ophthalmologic specialists. At this time, six months after surgery, the patient is asymptomatic. The swelling has significantly decreased in size. Control MRI revealed no growth of the pseudomeningocele.ConclusionsANP secondary to intracranial hypotension after cervical spine surgery requires immediate imaging tests and clinical evaluation from neurology and ophthalmology specialists. Management can be conservative, as long as diplopia is the only clinical and radiological finding and wound does not show signs of infection.
| S-EPMC10082435 | biostudies-literature
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