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Constitutional Mismatch Repair Gene Defect Syndrome Presenting With Adenomatous Polyposis and Cafe au Lait Spots: A Case Report.

Adenomatous polyps in the gastrointestinal system rarely occur in childhood and are accompanied by syndromes such as Familial adenomatous polyposis, attenuated familial adenomatous polyposis, and MUTYH-associated polyposis, Gardner and Turcot syndrome, and also mismatch repair (MMR) gene defects. In this article, we want to present a rare patient who had adenomatous polyposis and in situ carcinoma and was detected biallelic MMR gene defect.

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Progressive multifocal leukoencephalopathy in a patient with systemic sclerosis treated with methotrexate: A case report and literature review.

Reactivation of viruses occurs in autoimmune disorders in the setting of certain immunosuppressive drugs. We describe a 54-year-old female with systemic sclerosis and extensive cutaneous calcinosis who had been treated with methotrexate for 18 months and presented with headache and neurological deficits. She was diagnosed with progressive multifocal leukoencephalopathy, a rare disease caused by JC virus. Methotrexate was discontinued and mirtazapine plus mefloquine were added. The patient showed a slow recovery and five years later she had complete resolution of progressive multifocal leukoencephalopathy clinical manifestations. Calcinosis had a limited response to various agents and severely affected daily activities of the patient. This case report, highlights the importance of clinical suspicion for progressive multifocal leukoencephalopathy in every patient with immune-mediated disease, even on weak immunosuppressant, who presents with central nervous system manifestations and also the unmet therapeutic need for systemic sclerosis-associated calcinosis.

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Laparoscopic repair of inguinal hernia: retrospective comparison of TEP and TAPP procedures in a tertiary referral center.

The technical evolution of hernia repair has brought to the introduction of laparoscopy in this field. The most common laparoscopic techniques are transabdominal preperitoneal (TAPP) repair and totally extraperitoneal (TEP) repair. Indirect comparisons between TAPP and TEP have raised questions as to which is the superior approach in improving patient outcomes; however, there is still a scarcity of data directly comparing these laparoscopic approaches. The aim of this report is to offer a retrospective comparison between the two techniques with a long-term follow-up.

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Patient’s experience of psoriatic arthritis: a conceptual model based on qualitative interviews.

Psoriatic arthritis (PsA) is a heterogeneous chronic inflammatory musculoskeletal disorder that manifests as peripheral arthritis, dactylitis, enthesitis and spondylitis. PsA results in significant burden that impacts quality of life of patients. We examined the signs, symptoms and impacts reported by patients with PsA, to characterise the patient experience of PsA and develop a conceptual model representing this patient experience.

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Long-term pain outcomes in elderly patients with trigeminal neuralgia: comparison of first-time microvascular decompression and stereotactic radiosurgery.

Common surgical treatments for trigeminal neuralgia (TN) include microvascular decompression (MVD) and stereotactic radiosurgery (SRS). The use of MVD in elderly patients has been described but has yet to be prospectively compared to SRS, which is well-tolerated and noninvasive. The authors aimed to directly compare long-term pain control and adverse event rates for first-time surgical treatments for idiopathic TN in the elderly.

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Chronic Nonbacterial Osteomyelitis.

A 9-year-old active girl presented to physical therapy via direct access with intermittent severe pain deep in the distal third of her left thigh that had a 2-year history. Twenty months prior, her pediatrician ordered radiographs that were noncontributory and diagnosed her with "growing pains." During examination, an osseous nontender enlargement of the femur was found proximal to the patella, and the patient was referred to her pediatrician for imaging. Radiographs demonstrated an expansile bone lesion with a mixed matrix and an open surgical biopsy determined the mass to be consistent with nonbacterial osteomyelitis. .

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Effect of Metformin Nanoparticle-Mediated Thioredoxin Interacting Protein Expression on Oxaliplatin-Induced Peripheral Neuralgia.

Oxaliplatin (LOHP) is an approved anti-cancer drug that often accumulates in the peripheral nerves during the treatment of cancer. Metformin is a prescription drug with a wide range of pharmacological effects, which can augment the anti-cancer efficacy of chemotherapy drugs. Recent studies suggest that metformin is a potential drug that can relieve oxaliplatin induced neuralgia, and autophagy plays an important role in it. This study aims at exploring the effect and mechanism of action of metformin on oxaliplatin-induced peripheral neuropathic pain. To explore the underlying mechanism of metformin on peripheral nerves, neuropathic pain model was developed by intraperitoneal injection of oxaliplatin into mice. Metformin nanoparticles encapsulated by PLGA were used to intervene the pain in the model mice. RT-qPCR and immunoblotting were used to detect the effects of metformin on the expression of TXNIP and autophagy associated genes-BECN1 and LC3B in the sciatic nerves of pain model mice. Hematoxylin and eosin staining were used to detect the pathological changes in the sciatic nerve. Flow cytometry and Annexin V-FITC/PI apoptosis detection kit were used to detect the apoptosis of sciatic nerve cells. The effect of metformin on the pain perception of mice was detected by thermal and mechanical stimulation experiments. The results showed that the expression of TXNIP and autophagy related indexes-BECN1 and LC3B in sciatic nerve decreased significantly after oxaliplatin treatment. However, metformin intervention resulted in significant up-regulation of TXNIP and autophagy related indexes, and augmented the threshold of thermal sensitivity and mechanical tingling. Thus, our study has identified TXNIP as a novel target for oxaliplatin induced peripheral nerve pain. We have shown that oxaliplatin inhibits TXNIP expression, regulates autophagy, thereby affecting neuralgia. In contrast, metformin promotes the expression of TXNIP and autophagy of cells thereby inhibiting neural sensitivity and thus results in pain relief.

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Role of low-level laser therapy in post-herpetic neuralgia: a pilot study.

The aim of the present study was to investigate the influence of low-level laser radiation at a wavelength of 650 nm for treating post-herpetic neuralgia, an extremely painful condition which frequently occurs severely in old age and may persist for years with no predictable course. In total, fifteen patients were included in the present study, out of which 8 were females and 7 were males aged between 42 and 82 years. All patients were treated through 16 sessions for 8 weeks, and pain scoring was done on a visual analogue scale and statistical analysis was made for comparison before and after treatments. The final pain score was 0 in 11 patients although their initial pain score was severe in 8 and moderate in 3 patients. In three patients, pain reduced to mild intensity (2-3), and in one, the final pain score was 4 on the visual analogue scale. Patients treated during the present study have not complained for recurrence of pain or any other abnormality even after many months since completion of the therapy. Overall, low-level laser therapy (LLLT) proved itself an excellent therapeutic modality for the relief of pain in post-herpetic neuralgia patients, which may replace pain management medicines in future.

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A prospective, single arm study of intraosseous basivertebral nerve ablation for the treatment of chronic low back pain: 12-month results.

The basivertebral nerve (BVN) has been a recently discovered target as a potential source for vertebrogenic chronic low back pain (CLBP). Prior randomized controlled trials have demonstrated safety and efficacy of BVN ablation for vertebrogenic CLBP, but minimal data exists regarding BVN ablation's clinical effectiveness with broader application outside of strict trial inclusion criteria.

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ctDNA facilitated the diagnosis of a patient with synchronous urothelial carcinoma and non-small cell lung cancer: case report.

The diagnosis and treatment for multiple primary cancers have been a great challenge in clinical practice. Circulating tumor DNA (ctDNA) is tumor-derived fragmented DNA that circulates in the blood. Herein we report a case that ctDNA facilitated the diagnosis of synchronous urothelial carcinoma (UC) and lung adenocarcinoma. A 58-year-old male patient was diagnosed with UC initially. Computed tomography (CT) revealed multiple metastases without the brain after surgery and adjuvant chemotherapy. However, the patient had a progressively worsened headache symbol during system therapy. We explored the genome variations using next-generation sequencing (NGS). and mutations were detected from UC surgical tissue and postoperative ctDNA. Unexpectedly, the epidermal growth factor receptor () exon 19 deletion (19del) mutation, which is common in non-small cell lung cancer (NSCLC), was also identified in ctDNA. Pathological analysis of a neck lymph node confirmed adenocarcinoma derived from the lung. Meanwhile, 19del was detected in neck lymph node biopsy. The ctDNA contained both UC and lung adenocarcinoma-derived mutations. Thus, the diagnosis was modified into synchronous UC and lung adenocarcinoma. Interestingly, the lung adenocarcinoma-derived lesions responded well to osimertinib (80mg, once daily), while the UC did not. His headache rapidly subsided and disappeared. This case demonstrates that ctDNA analysis may better capture the molecular heterogeneity harbored by multiple primary tumors in a patient and can facilitate the diagnosis and therapy of patients with simultaneous cancers.

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