Chinese Male Patient Research Articles

Crohn\u2019s disease exacerbated by IL-17 inhibitors in patients with psoriasis: a case report

BackgroundPrevious studied revealed that psoriasis and Inflammatory bowel disease (IBD) have highly overlapping epidemiological characteristics, genetic susceptibility loci, disease risk factors, immune mechanisms, and comorbidities. More and more biologics have been used to treat psoriasis and IBD. Interleukin (IL)-17 inhibitors played an important role in the treatment of psoriasis, but induced and aggravated inflammatory bowel disease in some patients. IL-23 inhibitors have shown to be effective to both psoriasis and CD.Case presentationForty-one year old Chinese male patient who came to the hospital for psoriasis, developed severe gastrointestinal symptoms after using an IL-17 inhibitor, and was diagnosed with Crohn’s disease (CD). The patient eventually used an IL-23 inhibitor to relieve both psoriasis and CD.ConclusionIBD patients and psoriasis patients have increased probability of suffering from the other disease. The case that patients had suffered from psoriasis and CD before the use of IL-17 inhibitor is quite rare. This case suggests that physicians need to be careful when treating patients with psoriasis and CD with biologics, and it is necessary to evaluate the gastrointestinal tract.

The cost-effectiveness of prostate health index for prostate cancer detection in Chinese men.

Prostate-specific antigen (PSA) and prostate health index (PHI) have been used as biomarkers for prostate cancer detection. In this study, we aimed to evaluate the cost-effectiveness of PHI for prostate cancer detection in Chinese men. We developed a Markov model for Chinese male patient aged 50-75 years old. The PSA strategy was to offer TRUS-PB for all patients with elevated PSA of 4-10 ng/mL. The PHI strategy was to offer PHI for patients with elevated PSA of 4-10 ng/mL. TRUS-PB would only be offered for patients with PHI >35.0. Model inputs were extracted from local data when available. The cost per quality-adjusted life years gained for both strategies were calculated. The incremental cost-effectiveness ratios in relation to the willingness-to-pay (WTP) threshold were compared. One-way sensitivity analysis and probabilistic sensitivity analysis were performed. Cost-effectiveness acceptability curves were also constructed. With a Markov model of 25 screening cycles from age 50 to 75 years, the mean total costs per man were estimated to be USD 27,439 in the PSA strategy and USD 22,877 in the PHI strategy. The estimated effects were estimated to be 15.70 in the PSA strategy and 16.05 in the PHI strategy. The PHI strategy was associated with an expected decrease in cost of USD 4562 and an expected gain of 0.35 QALY, resulting in an ICER of USD -13056.56. The results were shown to be robust upon one-way sensitivity analysis. Upon Monte Carlo simulation, the PHI strategy was more cost-effective for 100% of the iterations. The PHI strategy demonstrated dominance over the PSA strategy regardless of what WTP threshold we use. A PHI-based screening strategy may be more cost-effective than a PSA-based strategy for prostate cancer detection in Chinese men. These results support consideration of a PHI-based approach for prostate cancer in Hong Kong.

Whole-exome sequencing in a patient with synchronous triple primary malignancies involving lung cancer: a case report.

The incidence of multiple primary malignancies (MPMs) has been increasing rapidly in recent years, however, the genetic pathogenesis is largely unknown on account of rare cases, especially for those patients who are diagnosed with three or more tumors. Under these circumstances, whole-exome sequencing (WES) may help to provide more comprehensive genomic information and guidance to proper therapeutic strategies. Here, we presented a rare case of a 66-year-old Chinese male patient who was diagnosed with synchronous triple primary malignancies: esophageal squamous cell carcinoma (ESCC), lung adenocarcinoma (LA), and hepatocellular carcinoma (HCC). Tumors were surgically removed within 3 months. WES was performed when the patient suffered from cancer recurrence and tumor-specific neoantigens were predicted. Each tumor displayed a distinct somatic mutation profile, providing direct evidence of independent origins. No shared driver gene mutation or neoantigen was detected among the three tumors. Two germline alterations of cancer susceptibility genes—SPINK1 c.194 + 2T>C and JAK3 c.425G>A were identified. This case is the first report of synchronous primary triple cancers covering the esophagus, lung, and liver. Our findings highlight the complexities of MPMs that even when under identical germline genetic backgrounds, the occurrence of MPMs can be a random event and driven by distinct somatic gene mutations. Synchronous multiple primary cancers that originated from different organs may not have common therapeutic gene targets, and it can be difficult to find a treatment to cover all the tumors.

Staged Orthodontic, Orthognathic Surgery and Open Septorhinoplasty for Management of Cleidocranial Dysplasia: A Case Report

Background: Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder with a prevalence of 1:1,000,000. These patients often present with dentofacial deformities such as midface hypoplasia, multiple supernumeraries and delayed eruption and non-eruption of permanent teeth. Case Presentation: We report a staged orthodontic, orthognathic surgery and open septorhinoplasty management of a 13-year-old male Chinese Singaporean patient diagnosed with cleidocranial dysplasia. He presented with multiple retained primary teeth, buried supernumerary teeth and unerupted permanent teeth. He had a Class III malocclusion and concave facial profile. The multidisciplinary management, which took place over 12 years, resulted in much improved occlusion and facial aesthetics. Conclusion: Collaboration of different specialties and careful planning is required for the successful treatment of cleidocranial dysplasia

OSIMERTINIB COUPLED WITH ERLOTINIB ALLEVIATED ACQUIRED RESISTANCE TO EGFR-TKIS MONOTHERAPY IN A PATIENT WITH EGFR P. GLU746_ALA750 DEL (E19)-MUTANT NSCLC: A CASE REPORT

TYPE: Abstract Publication TOPIC: Lung Cancer PURPOSE: EGFR-mutant NSCLC patients receive epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs) therapy as First-line therapy globally. EGFR-TKIs acquired resistance is the major reason for the failure of treatment regimen. The case we present here is an advanced NSCLC Chinese male patient with acquired EGFR p. Glu746_Ala750 del (E19) mutation responses to erlotinib after third EGFR-TKIs. METHODS: not applicable RESULTS: case report A 65-year old Chinese male patient with main complaint of dry cough was diagnosed with non-small cell lung adenocarcinoma with clinical staging of T4N3M1, stage IV (with pleural and bone metastasis) in January 2017. The patient accepted first-line treatment of Erlotinib according to his gene status of an EGFR exon 19 deletion mutation by tumor biopsy. After 24 months of progression-free survival, he experienced progressive disease and switched to the third-line treatment of Osimertinib with the emergence of EGFR T790M by plasm. Four months later, the patient relapsed again with brain metastasis and EGFR p. Glu746_Ala750 del (E19) mutation was detected. Regarding of acquired resistance to first-generation TKIs and third-generation TKIs he got, the patient was set in a combination of Osimertinib and Erlotinib. After one month, the patient got dramatical clinical benefit from the combined treatment being evaluated as PR. CONCLUSIONS: Not Applicable CLINICAL IMPLICATIONS: when advanced NSCLC patients with acquired EGFR p. Glu746_Ala750 del (E19) mutation after third EGFR-TKIs resistant the combination of third TKIs and erlotinib may be effective. DISCLOSURE: No significant relationships. KEYWORDS: osimertinib, nsclc, EGFR-TKIs resistance

The diagnosis and phacoemulsification in combination with intraocular lens implantation for an Axenfeld\u2013Rieger syndrome patient with small cornea: a case report

BackgroundAxenfeld-Rieger syndrome (ARS) is a congenital disease with a series of developmental abnormalities, and no case of ARS with cataract and small cornea has been reported in previous studies. In the present report, we aimed to describe the diagnosis and phacoemulsification of an ARS patient with small cornea.Case presentationA 58-year-old Han Chinese male patient who was referred to Eye Center of the Second Affiliated Hospital of Zhejiang University Medical College was diagnosed with ARS. Systemic and ophthalmic examination and genetic testing were performed. The slit-lamp microscopic examination of anterior segment showed obvious nuclear cataract, iris lesions, and the abnormal cornea of both eyes with small transversal and longitudinal diameters. ARS with bilateral complicated cataract and small cornea was diagnosed. Microincision-phacoemulsification in combination with intraocular lens implantation was performed on his left eye. After successful surgery of his left eye, the best-corrected visual acuity (BCVA) was obviously improved from 2 to 0.5 (LogMAR). A transient elevation of intraocular pressure (IOP) was controlled with medication.ConclusionsThrough genetic testing, a known pathogenic mutation NM_153427.2:c.272G > A was detected on the PITX2 gene; and an unknown mutation NM_001453.2:c.1063C > T was detected on FOXC1 gene. For the ARS patient with complicated cataract, the visual acuity was increased by phacoemulsificasion in combination with microincision.

Adrenal endothelial cyst associated with adrenocortical adenoma: a case report and literature review

Abstract We present a case of a middle-aged male Chinese patient who was asymptomatic with a large (6 × 7 cm) right adrenal mass was found in this patient upon routine health examination. He underwent laparoscopic right adrenalectomy after comprehensive evaluation, and the mass was finally diagnosed as right adrenal endothelial (vasculature) cyst associated with adrenocortical adenoma according to pathological and immunohistochemical studies. The puzzling image resemblance of a variation of adrenal cyst to carcinoma necessitated histological examination for confirmative diagnosis. The development of endothelial cyst is extremely rare, and its association with other adrenal neoplasms is even rarer. Herein, we report a new case of adrenal endothelial cyst associated with adrenocortical adenoma, which was almost indistinguishable from adrenocortical carcinoma, and hope that it would be helpful in the diagnosis of other similar cases.

A case presentation of patient from northern China with endomyocardial fibrosis

BackgroundEndomyocardial fibrosis (EMF) is a rare condition and a major cause of death in tropical countries. The etiology of EMF remains elusive, and no specific treatment has been developed yet, therefore it carries poor prognosis.Case presentationAn 81-year-old male Chinese patient with a history of long-standing exertional breathlessness, presented with worsening symptoms rapidly evolving to orthopnea. A proper specific treatment was prescribed to the patient in the following days, including diuretics, angiotensin-converting-enzyme inhibitor and beta blockers. The patient died of progressive multiple organ failure.ConclusionEchocardiography is technically limited due to the acoustic shadowing as a result of the calcification. Chest computed tomography is a more accurate diagnostic tool to examine the anatomic distribution and extent of endomyocardial calcification in this rare case.

Flail arm syndrome patients exhibit profound abnormalities in nerve conduction: an electromyography study

Flail arm syndrome (FAS) is a rare degenerative disease of the nervous system and a variant of amyotrophic lateral sclerosis (ALS). In the current study, we sought to further delineate electromyographic changes in sensory and motor conduction of the median nerve in four FAS patients and also described one representative case of FAS in a 63-year old Chinese male patient who was admitted because of aggravating limb myasthenia for three months. Electromyography showed that FAS patients exhibited variable electromyographic changes in sensory conduction of the median nerve. Abnormal conduction velocity of the sensory nerve in bilateral median nerves was observed in one patient but normal in two other patients. Two patients had a marked reduction in median sensory nerve action potential amplitude. In addition, one patient showed significant reduction in the conduction velocity and motor nerve action potential amplitude. The latency of motor conduction of bilateral median nerves was markedly prolonged. Furthermore, the incidence rate of the F wave in the right median nerve ranged from 5% to 100%. Furthermore, all four patients exhibited abnormalities in needle electromyography in at least three regions of the four regions examined with massive denervations in large and widened motor units and diminished recruitment of motor units, indicating the simultaneous presence of both acute denervation and chronic nerve regeneration. In conclusion, this is the first detailed study of electromyographic changes in FAS and the findings help improve clinicians’ understanding of this disease and differentiating the diagnoses of FAS from ALS.

A Novel CD40L Mutation Associated with X-Linked Hyper IgM Syndrome in a Chinese Family

ABSTRACTBackground: Mutations in CD40 ligand gene (CD40L) affecting immunoglobulin class-switch recombination and somatic hypermutation can result in X-Linked Hyper IgM Syndrome (HIGM1, XHIGM), a kind of rare serious primary immunodeficiency disease (PID) characterized by the deficiency of IgG, IgA and IgE and normal or increased serum concentrations of IgM. The objective of this study is to explain genotype-phenotype correlation and highlight the mutation responsible for a Chinese male patient with XHIGM.Methods: Whole exome sequencing (WES) and Sanger sequencing validation were performed to identify and validate the likely pathogenic mutation in the XHIGM family.Results: The results of the sequencing revealed that a new causative mutation in CD40L (c.714delT in exon 5, p.F238Lfs*4) which leads to the change in amino acids (translation terminates at the third position after the frameshift mutation) appeared in the proband. As his mother in the family was carrier with this heterozygous mutation, the hemizygous mutation in this patient came from his mother indicating that genetic mode of XHIGM is X-linked recessive inheritance.Conclusion: This study broadens our knowledge of the mutation in CD40L and lays a solid foundation for prenatal diagnosis and genetic counseling for the XHIGM family.

Hypercortisolism and primary aldosteronism caused by bilateral adrenocortical adenomas: a case report

BackgroundCo-existing Cushing’s syndrome and primary aldosteronism caused by bilateral adrenocortical adenomas, secreting cortisol and aldosterone, respectively, have rarely been reported. Precise diagnosis and management of this disorder constitute a challenge to clinicians due to its atypical clinical manifestations and laboratory findings.Case presentationWe here report a Chinese male patient with co-existing Cushing’s syndrome and primary aldosteronism caused by bilateral adrenocortical adenomas, who complained of intermittent muscle weakness for over 3 years. Computed tomography scans revealed bilateral adrenal masses. Undetectable ACTH and unsuppressed cortisol levels by dexamethasone suggested ACTH-independent Cushing’s syndrome. Elevated aldosterone to renin ratio and unsuppressed plasma aldosterone concentration after saline infusion test suggested primary aldosteronism. Adrenal venous sampling adjusted by plasma epinephrine revealed hypersecretion of cortisol from the left adrenal mass and of aldosterone from the right one. A sequential bilateral laparoscopic adrenalectomy was performed. The cortisol level was normalized after partial left adrenalectomy and the aldosterone level was normalized after subsequent partial right adrenalectomy. Histopathological evaluation of the resected surgical specimens, including immunohistochemical staining for steroidogenic enzymes, revealed a left cortisol-producing adenoma and a right aldosterone-producing adenoma. The patient’s symptoms and laboratory findings resolved after sequential adrenalectomy without any pharmacological treatment.ConclusionsAdrenal venous sampling is essential in diagnosing bilateral functional adrenocortical adenomas prior to surgery. Proper interpretation of the laboratory findings is particularly important in these patients. Immunohistochemistry may be a valuable tool to identify aldosterone/cortisol-producing lesions and to validate the clinical diagnosis.

A rare case of an HIV-seronegative AIDS patient with Pneumocystis jirovecii pneumonia

BackgroundAs technology progresses, several highly sensitive human immunodeficiency virus (HIV) screening kits are being researched and developed to quickly and efficiently identify serum HIV antibodies within the non-window period. In individuals who are HIV-seronegative, HIV infections that are not within a window period are rare. In such cases, all antibody detection methods will fail, and misdiagnosing these patients will have catastrophic consequences.Case presentationA 22-year-old male Chinese patient with diffuse exudative lesions in both lungs and initial symptoms of cough and dyspnoea was diagnosed with Pneumocystis jirovecii pneumonia (PJP) by aetiological examination, and the patient’s plasma CD4+ T-cell count was extremely low. In China, PJP is prevalent in HIV-infected individuals. Pneumocystis jirovecii (P. jirovecii) has a high colonisation rate in patients with HIV infections. This patient was naturally suspected of being an HIV patient; however, serum HIV antibody tests were negative using both an enzyme-linked immunosorbent assay (ELISA) and a latex agglutination assay, and HIV was not detected by western blotting. Subsequently, the plasma HIV viral load was found to be extremely high on two repeated plasma HIV RNA tests, thus confirming HIV-seronegative acquired immunodeficiency syndrome (AIDS) in this patient. With administration of effective anti-P. jirovecii treatment and highly active antiretroviral therapy (HAART) after diagnosis, the patient’s disease condition was rapidly controlled.ConclusionThis is the second reported case in China of an HIV-seronegative AIDS patient. Such cases are also rare worldwide. Although HIV-seronegative HIV infections are rare, AIDS should be considered in immunodeficient patients with opportunistic infections, even if the test results are HIV-seronegative. Plasma HIV RNA testing is important for such patients.

Primary pure squamous cell carcinoma of the duodenum: a case report and review of literature

Abstract Primary pure squamous cell carcinomas (SCC) of the duodenum are very uncommon. To the best of our knowledge, only a few cases of SCC of the duodenum exist in the reported literature. Here, we report a case of SCC of the duodenum in northern China. A 45-year-old Chinese Han male patient presented with abdominal pain and weight loss. CT, endoscopic examinations, X-rays, and immunohistochemical markers were used to confirm this rare diagnosis of SCC. We performed a pancreaticoduodenectomy with a curative intention. However, histological examination revealed SCC of the duodenum. Postoperative chemotherapy was started after surgery. To the best of our knowledge, pancreaticoduodenectomy is the preferred form of treatment for carcinoma of the duodenum. This is supplemented with chemotherapy, which can further prolong survival.

A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia

Metaphyseal anadysplasia 1 (MIM# 602111) belongs to a heterogeneous group of skeletal diseases characterized by an autosomal dominant form of growth defects due to metaphyseal changes with epiphyseal involvement similar to other metaphyseal disorders. Matrix metalloproteinase 13 encoded by MMP13 presumably plays important roles in bone formation and growth, and pathogenic variants in MMP13 have been identified to cause metaphyseal anadysplasia 1. Only six pathogenic variants in MMP13 have been previously reported worldwide. The genotype-phenotype correlation of MMP13-related disorders has not been fully understood. Here we reported the identification of a previously unreported pathogenic heterozygous de novo variant NM_002427.3:c.212T > C/p.Met71Thr in MMP13 in a Chinese male pediatric patient with metaphyseal anadysplasia 1 and additional phenotypes, including mild rickets-like changes observed on upper long bone metaphyses and patchy bone defects on the spine vertebrae particularly resolved by childhood. Our findings not only expand genotype and phenotype spectrums of MMP13-related disorders but also offer further information for precise diagnosis and classification of metaphyseal anadysplasia disorders.

A Case Report of Thyroid Gland Metastasis in Small Cell Lung Cancer

Thyroid metastasis of small cell lung cancer is rare in clinic, and few cases have been reported so far. We reported one case of 61-year-old Chinese male patient who presented with a progressive enlargement of mass in the right thyroid gland for 1 month. It was confirmed later to be originating from a small cell lung cancer. Then the patient was given chemoradiotherapy, but still died 6 months later. Although thyroid gland metastasis in lung cancer is rare in clinic, it should not be misdiagnosed. The treatment of thyroid metastasis of small cell lung cancer is mainly chemoradiotherapy; long-term survival of thyroid metastasis remained worse. J Med Cases. 2018;9(4):122-124 doi: https://doi.org/10.14740/jmc3031w

Small cell carcinoma of the gastric remnant: a case report

Abstract Objective Small cell carcinoma (SCC) is mostly found in the lungs. It is extremely rare in the gastric remnant. Here, we report a case and review the literature in order to improve the diagnosis and treatment of SCC of the gastric remnant. Methods We report a case of SCC of the gastric remnant in a 71-year-old male Chinese patient who presented with epigastric pain, acid regurgitation, and belching and who underwent Billroth II gastrectomy more than 38 years ago. Results Physical examination showed no obvious abnormalities. Laboratory data were within normal limits, except for anemia. Pathology of the mass showed a protruded tumor measuring 5.0 × 5.0 × 2.5 cm at the anastomotic edge of the gastric remnant that infiltrated through the full wall of the stomach; this was confirmed by immunohistochemical staining for cytokeratin [CK (-)], leukocyte common antigen (LCA) (+), synaptophysin (+), CD56 (+), and Ki-67 (+ > 50%). Conclusion SCC of the gastric remnant is extremely rare, although the pathology, symptoms, diagnosis, treatment, and prognosis of SCC are similar to those of gastric SCC. Although the standard treatment of SCC of the gastric remnant remains unclear, effective surgical resection and subsequent multiagent chemotherapy should be performed for long-term survival. Our case shows the efficacy of tegafurgimeracil-oteracil-potassium capsule chemotherapy. Examination of a large series is required to determine the optimal treatment strategy for SCC of the gastric remnant.

Crizotinib-associated toxic epidermal necrolysis in an ALK-positive advanced NSCLC patient.

Crizotinib is an oral small-molecule inhibitor of anaplastic lymphoma kinase (ALK) tyrosine-kinase that has been approved for treating patients with advanced echinoderm microtubule associated protein like 4-ALK rearranged non-small-cell lung cancer (NSCLC). Toxic epidermal necrolysis (TEN) is a rare adverse event associated with crizotinib. The present study reported a case of a 75-year-old Chinese male patient with advanced NSCLC with ALK fusion, who developed TEN after 56 days of crizotinib treatment and demised due to this dermatological adverse event. The occurrence of severe cutaneous necrolysis that predominantly involves the skin and mucous membranes during crizotinib treatment should alert clinicians to be aware of TEN and take prompt actions.

Intraoperative Priapism during Neuraxial Anaesthesia Resulting in Trouble to the Urologist: A Case Report

Introduction: Priapism following neuraxial anaesthesia for urological endoscopic procedures is uncommon and may result in delay or even postponement of scheduled operations. An imbalance between sympathetic and parasympathetic nervous system usually contributes to intraoperative penile erection, although local stimulation before complete sensory blockade may also lead to priapism. Case Report: We discuss a case of successful management of priapism in 47-year-old Chinese male patient listed for transurethral resection of bladder tumor following a subarachnoid block. Conclusion: With a detailed knowledge about the pathophysiology of intraoperative penile erection, anaesthesiologist can appropriately direct treatment depending on the individual patient and hence minimize the risks of subsequent complications. Keywords: Priapism, spinal anaesthesia, glycopyrrolate, phenylephrine.

Sperm-egg fusion disorder in a Chinese male patient was associated with a rare ADAM20 variant.

We report here a 28-year-old male with infertility. No abnormality was found in his semen examination. The couple achieved a successful pregnancy under the help of intracytoplasmic sperm injection during which we found that sperm could enter the zona pellucida, but could not fuse with the egg within the short insemination period. We then performed whole-exome sequencing technology on this patient and found a rare variant (c.641A>C:p.D214A) in ADAM20, which encoded a disintegrin and metalloprotease 20 protein. To further verify the pathogenicity of this variant, we analyzed ADAM20 protein expression in spermatozoa by immunostaining analysis, which showed a mis-localization of ADAM20 in the patient's spermatozoa. Therefore, we concluded that mutation in ADAM20 may be associated with sperm-egg fusion disorder in this patient.

P1.03-002 Crizotinib-Associated Toxic Epidermal Necrolysis in an ALK-Positive Advanced NSCLC Patient

Crizotinib is an oral small-molecule inhibitor of anaplastic lymphoma kinase (ALK) tyrosine-kinase that has been approved for treating patients with advanced echinoderm microtubule associated protein like 4-anaplasitic lymphoma kinase (EML4-ALK) rearranged non-small-cell lung cancer (NSCLC). Toxic epidermal necrolysis (TEN) is a rare adverse event related to crizotinib. We report a case of 75-year-old Chinese male patient of advanced NSCLC harboring with ALK fusion, who developed TEN after 56 days of crizotinib treatment the patient demised due to this dermatological adverse event The occurrence of severe cutaneous necrolysis that predominantly involve skin and mucous membranes during crizotinib treatment should alert clinicians to be aware of TEN and take prompt actions.