Carbon ion radiotherapy with complete tumor regression for primary malignant melanoma of female urethra orifice: a case report

Primary malignant melanoma of the female urethra (PMMFU) is extremely rare, accounting for 0.2% of all melanomas, and fewer than 200 cases have been reported worldwide. Because of the small number of clinical cases and unclear biological characteristics, there is no uniform and standard treatment protocol. We herein describe the treatment of PMMFU using carbon ion radiotherapy. The radiotherapy was delivered at 60.8 Gy (RBE) in 16 fractions, once daily, five times per week. The patient achieved complete tumor disappearance within 1 year after carbon ion radiotherapy and remained disease-free thereafter. She developed acute grade 1 radiation dermatitis and urethritis, which resolved quickly; no other toxic effects were observed. At the time of this writing, her survival duration was 33 months. This case demonstrates that carbon ion radiotherapy may be a good option for primary genitourinary mucosal malignancies.

Prognostic significance of clinical characteristics and 18Fluorodeoxyglucose-positron emission tomography/computed tomography quantitative parameters in patients with primary mediastinal B-cell lymphoma

Objective Primary mediastinal B-cell lymphoma (PMBCL) lacks standard treatment regimens. This study aimed to identify the disease’s clinical features and prognostic factors. Methods This retrospective study included 56 patients with PMBCL. Patient demographic details and clinicopathological characteristics were summarized, and their effects on progression-free survival (PFS) and overall survival (OS) were analyzed. Results The median patient age was 29 years (range, 14–56). Twenty-two patients received DA-EPOCH-R (dose-adjusted etoposide, vincristine, and doxorubicin for 96 hours with bolus doses of cyclophosphamide and oral prednisone, as well as rituximab), and 34 patients received R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, prednisone). Clinical/laboratory parameters, overall response rates, and 5-year PFS and OS rates did not differ between the treatment groups. Kaplan–Meier analysis indicated that late-stage disease and a higher International Prognostic Index (IPI) were associated with shorter PFS and OS. Furthermore, patients with B symptoms and first-line treatment non-responders exhibited worse OS. 18Fluorodeoxyglucose-positron emission tomography/computed tomography quantitative parameters, such as higher metabolic tumor volume (MTV) and total lesion glycolysis (TLG), were corrected with shorter PFS. Conclusions This study revealed that stage IV disease, higher IPI, and B symptoms were poor prognostic factors in patients with PMBCL. Significantly, higher MTV and TLG portended worse PFS.

Three-dimensional printing-assisted anterior and posterior combined surgery for treating a giant aggressive vertebral hemangioma

Aggressive vertebral hemangioma (AVH) is a type of non-neoplastic and congenital developmental abnormality of spinal cord blood vessels. We report the innovative application of three-dimensional (3D) printing-assisted anterior and posterior combined surgery for treating a giant AVH. This could be a novel treatment in the future. A 44-year-old man suffered from persistent neck pain and limited limb mobility for approximately 2 weeks. An imaging examination showed the destruction of C2–4 vertebral bodies, and a giant lesion invaded the spinal cord. He underwent 3D printing-assisted anterior and posterior combined surgery. Postoperatively, his symptoms of persistent neck pain and limited limb mobility were alleviated. An imaging examination showed that internal fixation and the prosthesis were fixed in place, and the spinal canal was unobstructed. Treating a giant AVH by 3D printing-assisted anterior and posterior combined surgery is feasible and effective.

Apnoeic oxygenation using transnasal humidified rapid-insufflation ventilatory exchange during rigid bronchoscopy: a report of four cases

General anaesthesia with a muscle relaxant is usually performed for rigid bronchoscopy (RB), but ventilation is challenging due to large amounts of leakage. Optiflow™ supplies 100% humidified, warmed oxygen at a rate of up to 70 l/min and this high flow rate may overcome the leakage problem. This case report describes four patients that were scheduled for RB. The lung lesions were all located below the carina, so a bronchial tube was inserted under general anaesthesia. Once a large amount of leakage was confirmed by manual ventilation, Optiflow™ was connected to the bronchial tube (flow rate, 70 l/min). All of the ports of the bronchoscopy were left open to prevent the risk of outlet obstruction. Oxygenation was well maintained with stable vital signs throughout the procedures, which took up to 34 min without airway intervention. There were no occurrences of cardiac arrhythmia or changes in the electrocardiograms. Respiratory acidosis recovered after emergence, which was confirmed by arterial blood gas analysis in all cases. Apnoeic oxygenation using Optiflow™ was applied successfully during RB. Applying Optiflow™ could make cases of difficult ventilation during RB much easier for the anaesthetist. Larger studies need to demonstrate the efficacy and safety of this technique.

Severe pulmonary co-infection with varicella-zoster virus, Pneumocystis jirovecii and Cytomegalovirus: a case report

Pneumocystis jirovecii, Cytomegalovirus and varicella-zoster virus are all opportunistically infective pathogens, but pulmonary co-infection with these pathogens is rare. Herein, this case report describes a patient with autoimmune haemolytic anaemia treated with methylprednisolone and cyclosporine that presented with rapidly progressive severe respiratory failure. Analysis of microbial nucleic acid sequences in both blood and sputum using next-generation sequencing revealed pulmonary co-infection with Pneumocystis jirovecii, varicella-zoster virus, and possibly Cytomegalovirus. After timely targeted and supportive treatments, the patient recovered. This case report highlights the imaging features of co-infection with these pathogens, the importance of next-generation sequencing for early diagnosis in immunosuppressed patients, and the effects of corticosteroid therapy.

Cochlear implantation in a Chinese patient with a novel frameshift variant in POU3F4 gene and incomplete partition type III: a case report

Variations in the POU Class 3 Homeobox 4 ( POU3F4) gene are associated with X-linked mixed deafness. Here, the identification of a novel variant of POU3F4 in a male paediatric patient (the proband) with incomplete partition type III (IP-III) hearing impairment, is described. Clinical data were collected from the proband and his biological parents. Whole exome sequencing of the proband revealed a novel frameshift insertion mutation in POU3F4 (c.717_718ins GTGCCTTGCAG : p.Leu240Valfs*5) in a hemizygous state. This variant likely truncates the protein within the POU-specific domain, and the proband’s biological mother was found to be a carrier of this variant. After excluding all contraindications, the proband underwent cochlear implantation in the right ear in June 2020. Cerebrospinal fluid (CSF) gushing was observed during surgery, but there were no postoperative complications, such as CSF leak, meningitis, or facial nerve stimulation. A novel pathogenic frameshift variant of POU3F4 was identified, enriching the known mutation spectrum of POU3F4. Effective perioperative prevention and response measures should be taken to reduce the incidence of CSF gushing and meningitis in patients receiving IP-III cochlear implantation.

Mean platelet volume and polycystic ovary syndrome: a systematic review and meta-analysis

Objective This meta-analysis evaluated the association between the mean platelet volume (MPV) and polycystic ovary syndrome (PCOS). Methods A systematic literature search using PubMed, EMBASE, and Web of Science databases until June 2021 was conducted. Pooled standardized mean differences (SMD) and 95% confidence intervals (CI) were determined using a random effects model. Results Ten studies involving 866 women with PCOS and 548 age- and body mass index-matched women without PCOS were included. The MPV was significantly increased in women with PCOS compared with non-PCOS women (SMD = 0.43, 95% CI = 0.13–0.72). Subgroup analyses showed that this trend was consistent in cross-sectional studies (SMD = 0.44, 95% CI = 0.03–0.86) and in Turkish women (SMD = 0.46, 95% CI = 0.13–0.79). Meta-regression analysis revealed a marginally positive correlation between the MPV and the homoeostasis model assessment of insulin resistance in women with PCOS. The sensitivity analysis showed that the effect estimate was robust and stable, and publication bias was not evidenced in the pooled analysis. Conclusions This meta-analysis revealed that women with PCOS have a significantly increased MPV than women without PCOS, which is probably associated with insulin resistance. INPLASY registration number: INPLASY2021100021.

BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review

Objective Breast cancer (BC) is the most common form of cancer among Asian females. Mutations in the BRCA1/ BRCA2 genes are often observed in BC cases and largely increase the lifetime risk of having BC. Because of the paucity of high-quality data on the molecular spectrum of BRCA mutations in South Asian populations, we aimed to explore these mutations among South Asian countries. Methods A systematic literature search was performed for the BRCA1 and BRCA2 gene mutation spectrum using electronic databases such as PubMed, EMBASE, and Google Scholar. Twenty studies were selected based on specific inclusion and exclusion criteria. Results The 185delAG (c.68_69del) mutation in exon 2 of BRCA1 was the most common recurrent mutation and founder mutation found. Various intronic variants, variants of unknown significance, large genomic rearrangements, and polymorphisms were also described in some studies. Conclusions The South Asian population has a wide variety of genetic mutations of BRCA1 and BRCA2 that differ according to countries and ethnicities. A stronger knowledge of various population-specific mutations in these cancer susceptibility genes can help provide efficient strategies for genetic testing.

SPOCD1 regulated by miR-133a-3p promotes hepatocellular carcinoma invasion and metastasis

Objective To investigate the tumorigenic role of spen paralogue and orthologue C-terminal domain-containing 1 (SPOCD1) in hepatocellular carcinoma (HCC) and identify the upstream regulatory mechanism. Methods We analyzed SPOCD1 and miR-133-3p expression in normal and HCC tissues from the Cancer Genome Atlas and UALCAN databases, and in normal hepatocytes and HCC cell lines by real-time quantitative polymerase chain reaction and western blot. We identified the miR-133a-3p-binding site on the SPOCD1 3ʹ-untranslated region using TargetScan. Hierarchical regulation was confirmed by luciferase assay and miR-133a-3p overexpression/silencing. Cell proliferation, migration, invasion, and colony formation were assessed by MTT, scratch, transwell, and clonogenic assays, respectively. Results SPOCD1 was highly expressed in HCC tissues and cell lines, while miR-133a-3p expression was significantly downregulated. Kaplan–Meier analysis indicated that high SPOCD1 expression was significantly associated with poor survival. TargetScan and luciferase reporter assay revealed that SPOCD1 was the downstream target of miR-133a-3p. Overexpression of miR-133a-3p significantly inhibited the expression of SPOCD1, while miR-133a-3p knockdown significantly increased SPOCD1 expression. Conclusion SPOCD1, regulated by miR-133a-3p, promotes HCC cell proliferation, migration, invasion, and colony formation. This study provides the first evidence for the role of the miR-133a-3p/SPOCD1 axis in HCC tumorigenesis.

Bilateral leg pain and unilateral calf atrophy caused by polymyositis accompanying lumbar spinal stenosis and disc herniation: a case report

Polymyositis is a subgroup of idiopathic inflammatory myopathies characterized by symmetric proximal limb weakness and chronic skeletal muscle inflammation. We herein report the first case of bilateral leg pain and unilateral calf atrophy caused by polymyositis accompanying lumbar spinal stenosis and disc herniation. A 52-year-old man presented with intermittent claudication and calf pain that had become gradually aggravated during the last 3 months. Magnetic resonance imaging showed spinal stenosis at the L3/4 and L4/5 levels and lumbar disc herniation at the L4/5 level. Preoperative laboratory investigations revealed elevated muscle enzyme concentrations. Magnetic resonance imaging also showed atrophy, fatty degeneration, and edema in both calf muscles. Histological examination showed inflammatory myositis and fibrosis in the perifascicular connective tissues. The patient was diagnosed with polymyositis. We performed decompressive laminectomy at the L3/4 and L4/5 levels and discectomy at the L4/5 level. After administration of prednisolone for 6 months and methotrexate for 3 months, the patient’s bilateral calf pain and abnormal laboratory findings improved. The combination of surgical decompression and adequate medical treatment resulted in a successful recovery. Polymyositis should be suspected in patients with lumbar spinal stenosis or lumbar disc herniation who exhibit increased muscle enzyme concentrations or lower extremity muscle atrophy.