Remodeling of the Lumbar Facet Joint After Full Endoscopic Resection for Lumbar Osteoid Osteoma: Case Report and Literature Review.

BACKGROUND: Osteoid osteoma (OO) is a common benign bone tumor; however, approximately 25% of cases have spine involvement. It is often treated by image-guided radiofrequency ablation to break down the nidus. Few reports have described full endoscopic resection of the lesion, but none have described postoperative remodeling of the lumbar facet joint after surgical resection of an OO. The study aimed to describe a rare case of remodeling of the lumbar facet joint and then delineate the least invasive surgical technique of endoscopic resection of an OO. METHODS: A 26-year-old man presented with severe left buttock pain and sciatica that worsened at night and was relieved by ibuprofen. Magnetic resonance imaging indicated a left inferior facet of an L3 mass-like lesion. A thin-section computed tomography image revealed a nidus, which was compatible with an OO. Full endoscopic resection was performed to completely remove the nidus of the OO. RESULTS: At the 2-year follow-up, the patient was symptom-free and computed tomography images indicated new bone formation. CONCLUSIONS: The present case and literature review demonstrate that endoscopic resection is safe and effective for managing a posterior element of lumbar OO. Furthermore, this technique allows complete removal of the nidus with minimal damage to surrounding structures and leads to remodeling of the resection site. CLINICAL RELEVANCE: Patients with OO involving the posterior element of the spine can present with buttock and radicular pain, mimicking lumbar disc herniation. OO can be successfully removed by the full endoscopic method and remodeling of the resected site can be anticipated.

Myositis Caused by Trachipleistophora hominis in a Person With Human Immunodeficiency Virus: The First Case in Thailand.

BACKGROUND: To date, cases of extraintestinal micro-sporidiosis have been increasingly reported in both otherwise healthy and immunocompromised individuals. Among them, microsporidial myositis is very rare. To the best of our knowledge, this is the first report of microsporidial myositis caused by Trachipleistophora hominis in a patient with human immunodeficiency virus (HIV) in Thailand. CASE REPORT: A Thai man with HIV presented with fever and muscle pain at both anterior thighs and left arm for 3 months. Muscle biopsy was performed, and pathology exhibited neutrophil infiltration and focal aggregations of microsporidial spores. The 18S ribosomal RNA sequence revealed the species of this microsporidium as T hominis, and albendazole of 800mg/day was initiated. He gradually improved, and was discharged home 6 weeks after hospitalization. CONCLUSIONS: To the best of our knowledge, this is the first report of microsporidial myositis caused by Trachipleistophora hominis in a person with HIV in Thailand.

An early presentation of a large calcified chronic subdural hematoma presenting as an inner eggshell in an elderly patient: A case report.

INTRODUCTION: Calcified chronic subdural hematoma which is usually found in children and takes several months for calcification to be seen on imaging is presented in an elderly patient in which the calcification could be visible early after trauma. PRESENTATION OF CASE: An elderly man, 83, living with caregiver, was brought to our hospital due to dysarthria and suffocation for 2 days. Three months ago, he experienced his head injury from a fall. Four days ago, he developed progressive left hemiparesis. Because of clinically progressive deterioration and computed tomography scan revealing acute epidural hematoma, the patient was transferred to operating room. Gross findings and pathologic reports unfolded that the lesion was consistent with calcified chronic subdural hematoma. Despite a successful operation, the patient cannot survive. DISCUSSION: In addition to the presentation in an elderly patient, there was scarcely any paper reporting an early presentation of calcium deposition. Nevertheless, according to the lack of previous data recorded for his earlier performance, deviation on walking or sitting, before the accident, we cannot actually know whether there has been calcium deposition in his brain before or not. CONCLUSION: Calcified chronic subdural hematoma could present in elderly group of patient and early presentation of calcium deposition following trauma is possible. However, surgery in this group of patient entails a risk of fatality, despite the successful operation.

Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene.

BACKGROUND: Triple negative breast cancer (TNBC) is a breast cancer subtype characterized by absence of both hormonal receptors and human epithelial growth factor receptor 2 (HER2). TNBC accounts for 15-20% of breast cancer. TNBC is associated with more aggressive disease and worse clinical outcome. Though the underlying mechanism of TNBC is currently unclear, the heterogeneity of clinical characteristics in various population may relate to the difference in tumor mutational profile. There were studies on TNBC gene mutations in various ethnic groups but the tumor genome data on Thai TNBC patients is currently unknown. This study aims to investigate mutational profile of Thai TNBC. METHODS: The patients were Thai individuals who were diagnosed with primary breast carcinoma between 2014 and 2017. All surgically removed primary tumor tissues were carefully examined by pathologists and archived as formalin-fixed paraffin-embedded tumor. TNBC was defined by absence of hormonal receptors and HER2 by immunohistochemistry. Genomic DNA was extracted, enriched and sequenced of all exomes on the Illumina HiSeq. Genomic data were then processed through bioinformatics platform to identify genomic alterations and tumor mutational burden. RESULTS: A total of 116 TNBC patients were recruited. Genomic analysis of TNBC samples identified 81,460 variants, of which 5,906 variants were in cancer-associated genes. The result showed that Thai TNBC has higher tumor mutation burden than previously reported data. The most frequently mutated cancer-associated gene was TP53 similar to other TNBC cohorts. Meanwhile KMT2C was found to be more commonly mutated in Thai TNBC than previous studies. Mutational profile of Thai TNBC patients also revealed difference in many frequently mutated genes when compared to other Western TNBC cohorts. CONCLUSION: This result supported that TNBC breast cancer patients from various ethnic background showed diverse genome alteration pattern. Although TP53 is the most commonly mutated gene across all cohorts, Thai TNBC showed different gene mutation frequencies, especially in KMT2C. In particular, the cancer gene mutations are more prevalent in Thai TNBC patients. This result provides important insight on diverse underlying genetic and epigenetic mechanisms of TNBC that could translate to a new treatment strategy for patients with this disease.

Prevalence of Somatic KCNJ5 Mutations in Thai Patients With Aldosterone-Producing Adrenal Adenomas.

Somatic KCNJ5 mutations result in excess aldosterone production and are reported to be more common in Asia than elsewhere. To assess the prevalence of somatic KCNJ5 mutations in Thai patients with aldosterone-producing adrenal adenomas (APAs) in a single tertiary center, we analyzed the paraffin-embedded tissue of KCNJ5 mutations from 96 patients with sporadic APAs who underwent unilateral laparoscopic adrenalectomy at our center during 2007 to 2016. We also assessed the clinical characteristics, treatment outcomes, and biochemistry and histologic differences among patients with and without somatic KCNJ5 mutations. Of the 96 patients with APA, 67 (70%) had somatic mutations of the KCNJ5 gene: 39 patients with p.G151R, 26 patients with p.L168R, one patient with p.T158A, and one patient with p.W126R. All patients presented with hypertension. Hypokalemia was documented in 98% of patients. The hypertension cure rate at 1 year after surgery was 35%. Patients with somatic KCNJ5 mutations required more potassium supplementation and had adrenal histology compatible with zona fasciculata-like cells compared with patients without the mutations (all P < 0.05). There were no significant differences in preoperative plasma aldosterone concentration (PAC), plasma renin activity, aldosterone/renin ratio, potassium level, treatment of hypertension, tumor size, and hypertension cure rate among patients in the KCNJ5-mutant and nonmutant groups. In a multivariate analysis, a higher PAC was associated with the presence of somatic KCNJ5 mutations. In summary, the prevalence of somatic KCNJ5 mutations in patients with sporadic APAs in Thailand, an Asian country with residents of different ethnic backgrounds, is comparable to previous reports in Asia.

Spermatogenesis Abnormalities following Hormonal Therapy in Transwomen.

OBJECTIVE: To measure spermatogenesis abnormalities in transwomen at the time of sex reassignment surgery (SRS) and to analyze the association between hormonal therapy duration and infertility severity. DESIGN: Retrospective study. SETTING: University hospital. PATIENTS: One-hundred seventy-three transwomen who underwent SRS from January 2000 to December 2015. INTERVENTIONS: All orchidectomy specimens were retrospectively reviewed and classified. History of hormonal therapy duration was retrieved from medical records. MAIN OUTCOME MEASURES: Histological examinations of orchidectomy specimens were performed to assess spermatogenesis. RESULTS: One-hundred seventy-three orchidectomy specimens were evaluated. Histological examinations showed maturation arrest in 36.4%, hypospermatogenesis in 26%, Sertoli cell-only syndrome in 20.2%, normal spermatogenesis in 11%, and seminiferous tubule hyalinization in 6.4% of the specimens. Spermatogenesis abnormality severity was not associated with the total therapy duration (P = 0.81) or patient age at the time of surgery (P = 0.88). Testicular volumes and sizes were associated with spermatogenesis abnormality severity (P = 0.001 and P = 0.026, right testicle and left testicle, resp.). CONCLUSIONS: Feminizing hormonal treatment leads to reductions in testicular germ cell levels. All transwomen should be warned about this consequence, and gamete preservation should be offered before starting hormonal treatment.

MIB-1 Index as a Surrogate for Mitosis-Karyorrhexis Index in Neuroblastoma.

Neuroblastoma, the most common extracranial solid tumor in infancy, shows marked biological heterogeneity. Multiple prognostic markers are combined to risk-stratify neuroblastoma patients for treatment. One marker assesses histology, dividing patients into favorable and unfavorable categories based, in part, on the mitosis-karyorrhexis index (MKI). The recommended scoring of 5000 cells is, however, time-consuming and observer-dependent, and accurate counts may not always be performed. In the present study, we investigated using MIB-1 as a surrogate marker for the MKI. Twenty-five cases of neuroblastoma, ranging from low to high MKI, were immunostained for MIB-1. A total of 375 microscopic fields were digitally captured with > 100,000 cells scored. The MIB-1 index was determined by image analysis and MKI, by manual counting of the same immunostained fields. There was a significant correlation between the MIB-1 index and MKI comparing all fields (r = 0.7869, P < 0.01) and an even better correlation comparing individual cases (r = 0.9147, P < 0.01). Using a linear regression model, a formula was generated to calculate MKI from the MIB-1 index as follows: MKI = (MIB-1 index × 0.124) + 1.412. With this formula, a low MKI corresponds to an MIB-1 index < 4.74, intermediate MKI to an MIB-1 index of 4.74 to 20.87, and high MKI to an MIB-1 index > 20.87. For comparison, the calculations were repeated using a manual MIB-1 count on the same images. Similar significant correlations were obtained, with nearly identical cutoff values for MKI categories. This approach can facilitate determination of the MKI by assessing the MIB-1 index, either by image analysis or manual counting.

Renal infarction associated with adrenal pheochromocytoma.

The coexistence of pheochromocytoma and renal artery stenosis had been reported occasionally from the possible mechanism of catecholoamine-induced vasospasm and extrinsic compression of renal artery in some reported cases. However, renal infarction caused by pheochromocytoma is an uncommon phenomenon. Herein, we report an interesting case of adrenal pheochromocytoma associated with renal artery thrombosis, which should be included in the differential diagnosis of pheochromocytoma patients who present with abdominal pain.