Chinese Male Patient Research Articles

Clinical and genetic analyses of UGT1A1 gene from a Chinese family with Gilbert's syndrome

To perform clinical and genetic pedigree analyses of a Chinese male patient with Gilbert's syndrome and his relatives. Blood sample were collected from the proband and his relatives by liver function test, etiological examination and genetic analysis to exclude other related diseases. The phenobarbital-responsive enhancer module (PBREM), TATA box and common mutation sites in exons of UGT1A1 gene were amplified by polymerase chain reaction (PCR) and the products screened by direct DNA sequencing. c. -3279T > G in PBREM, TA insertion in TATA box and Gly71Arg were observed in this family. A linkage disequilibrium is also noted between c. -3279T > G and TA insertion. In four affected members, three are heterozygotes and one is homozygote. The correlation between genotype and phenotype with a high serum level of unconjugated bilirubin was confirmed. c. -3279T > G in PBREM, TA insertion in TATA box and Gly71Arg are essential for the pathogenesis of Gilbert's syndrome in this Chinese family. Gilbert's syndrome in this family is inherited in an autosomal recessive manner.

Successfully Ablated Atrioventricular Nodal Reentrant Tachycardia in Unconventional Presentation

Background:—Sometime, it’s difficult to distinguish the electrophysiological mechanism of some tachycardia, and so, influencing the efficacy and safety of ablation operation. Therefore, it’s helpful to analysis some tachycardia in particular mechanism, as in this case.Methods and results:—A 49 years old Chinese male patient had a history of paroxysmal palpitation for 25 years, and recurred more frequently in the month before admission. Electrocardiogram (ECG) showed no abnormity under sinus rhythm, and showed no specific sign to distinguish its reentrant mechanism when tachycardia running. Electrophysiological examination and the result of successful ablation showed that the retrograde pathway of its reentry was in slow conduction, and from which the reentry started; moreover, after partially ablating, the reentry started from antegrade slow conduction.Conclusion:—Careful cardiac electrophysiological examination and paying more attention to inducing conditions of tachycardia are critical to accurately determining the tachycardia mechanism.

Intradural Lumbar Mature Teratoma With Neuronal and Glial Tissue Component in an Adult -Case Report-

A 23-year-old Chinese male patient presented with an extremely rare case of spinal teratoma with neuronal and glial tissue components manifesting as lower back pain and radiating pain to the leg. Subtotal excision of the tumor was conducted. Histological examination revealed a mature teratoma with neuronal and glial tissue components. Initial presentation of spinal teratoma in adulthood is rare. Teratomas show a wide array of organoid tissue differentiation, but neuronal tissue component is uncommon.

Coronary arterial spasm in single right coronary artery

We presented a case of anomalous single-coronary artery detected incidentally during routine coronary angiography. A 32-year-old male Chinese patient presented with recurrent pre-syncope and six episodes of syncope. Coronary angiography and coronary-computed tomography (CT)-angiography performed by a dual-source computed tomography (DSCT) revealed that the patient had a single large right coronary artery. A moderately large branch originated from the proximal part of the single right coronary artery and extended to the left, passing the anterior to the pulmonary artery, and divided into the anterior descending artery branch and circumflex branch at the base of the left auricular appendage. The episodes of the syncope were suspected to be caused by coronary arterial spasm, so this patient was on a regimen of 30 mg of diltiazem every 6 h and had no recurrence of syncope during follow-up.

Particle deposition in a CT-scanned human lung airway

The particle deposition in a computerized tomography (CT)-scanned human lung was numerically investigated. The five-generation airway is extracted from the trachea to segmental bronchi of a 60-year-old Chinese male patient. Computations were carried out in the flow rate range of 210–630 ml/s (Reynolds number range of 1000–3000) and particle size of 2–10 μm (Stokes number range of 0.0007–0.049). To count the effect of laryngeal jet on trachea inlet, the trachea was extended and modified to simulate the larynx, consequently the inlet velocity profile is biased towards the rear wall. The laryngeal jet-induced turbulence was simulated using low Reynolds number (LRN) κ–ω turbulent model. Particle deposition patterns, deposition efficiency and deposition factor were studied in detail. The turbulent flow has significant effect on the particle deposition, and the present deposition factor is compared well with the available data.

Behcet's Disease presenting as Bilateral Common Femoral Artery Pseudo-aneurysms

We present a 25-year-old Chinese male who was diagnosed with Behcet's disease after suffering bilateral femoral artery pseudo-aneurysms. This was treated surgically by excising the pseudo-aneurysm and achieving vascular continuity by harvesting the long saphenous vein as a conduit. Arterial pseudo-aneurysms are rare vascular manifestations in Behcet's disease and management with vein is advisable as patients are frequently on long-term immunosuppression which puts them at risk of infections with prosthetic grafts. Behcet's Disease Presenting as Bilateral Common Femoral Artery Pseudo-aneurysmsEJVES ExtraVol. 17Issue 6PreviewWe present a 25-year-old Chinese male patient who was diagnosed with Behcet's disease after suffering bilateral femoral artery pseudo-aneurysms. This was treated surgically by excising the pseudo-aneurysm and achieving vascular continuity by harvesting the great saphenous vein as a conduit. Arterial pseudo-aneurysms are rare vascular manifestations in Behcet's disease and management with vein is advisable as patients are frequently on long-term immunosuppression which puts them at risk of infections with prosthetic grafts. Full-Text PDF Open Access

Behcet's Disease Presenting as Bilateral Common Femoral Artery Pseudo-aneurysms

We present a 25-year-old Chinese male patient who was diagnosed with Behcet's disease after suffering bilateral femoral artery pseudo-aneurysms. This was treated surgically by excising the pseudo-aneurysm and achieving vascular continuity by harvesting the great saphenous vein as a conduit. Arterial pseudo-aneurysms are rare vascular manifestations in Behcet's disease and management with vein is advisable as patients are frequently on long-term immunosuppression which puts them at risk of infections with prosthetic grafts.

Modeling the bifurcating flow in a CT-scanned human lung airway

The inspiratory flow characteristics in a CT-scanned human lung model were numerically investigated using low Reynolds number (LRN) κ– ω turbulent model. The five-generation airway is extracted from the trachea to segmental bronchi of a 60-year-old Chinese male patient. Computations were carried out in the Reynolds number range of 900–2100, corresponding to mouth-air breathing rates of 190–440 ml/s. Flow patterns on the Re=2100 and flow rate distribution were presented. In this model, the flow pattern is very complex. To count the effect of laryngeal jet on trachea inlet, the trachea was extended and modified to simulate the larynx, consequently the inlet velocity profile is biased towards the rear wall. In the inferior lobar bronchi, there are two stems in which the axial velocity is stronger but secondary velocity is weaker. Secondary flow in the lateral bronchi is stronger than the medial ones. With increasing Re, the air flow increases in the middle, inferior lobes and left main bronchus, i.e., flow biases to left and downward.

Primary malignant melanoma of the liver: A case report

Primary malignant melanoma of the liver is an exceedingly rare tumor. Only 12 cases have been reported in the worldwide literature. We present a case of isolated malignant melanoma of the liver occurring in a 36-year-old Chinese male patient. Comprehensive dermatologic and ophthalmologic examinations revealed no evidence of a cutaneous or ocular primary lesion. Other lesions in brain, respiratory tract, lung, gastrointestinal tract and anus, were not demonstrated by serial position emission tomography (PET). Microscopic examination of the resected specimen revealed a malignant melanoma, which was confirmed by immunohistochemical staining for HMB-45, S-100 protein, melanoma-pan and vimentin. Moreover, electron microscopy demonstrated melanosomes in tumor cell cytoplasm. Our case shows that primary malignant melanoma may occur in the liver and should be considered when the histopathological appearance is not typical for other hepatic neoplasm.

Case of fibromatosis of male breast

Extra-abdominal fibromatosis of the breast is rare with the clinical and radiological features closely resembled malignant breast tumour. We describe, in a 40-year-old Chinese male patient with a palpable left breast mass, the clinical, radiological and pathological features of this benign though locally aggressive tumour.

Establishment and Characterization of a New Human Myeloma Cell Line WuS1.

A new human myeloma cell line WuS1 was established from the bone marrow of a 45-year-old Chinese male patient with IgGλ type multiple myeloma (stage IIIB). The growth of WuS1 cells is constitutively independent of exogenous growth factors of feeder cells. The WuS1 cell line proliferated consistently as free-floating single cells in suspension, sometimes in small clusters or slightly adherent on the bottom of the plastic culture flask, without forming clumps. The cell line has been maintained without any external growth factors for over a year, and cells frozen in liquid nitrogen can be revived successfully. The doubling time of the cells was about 11 hours and the colony-forming rate was 55.56±6.33%. WuS1 displayed immature plasma cell features with an obvious heterogeneity in size and a high nuclear-cytoplasmic ratio in Wright-Giemsa staining. [Display omitted] They were positive for ALP, CE, ACP(not inhibited by tartrate) and PAS stainings and negative for POX and NBE. By transmission electron microscopy, the cytoplasm of WuS1 contained abundant mitochondria, and parallel endoplasmic reticulum or Golgi apparatus in some cells. The monoclonal immunoglobulin G and λ light chain were positive in cell lysate and not in cell culture supernatants by immnuoelectrophoresis. The cell surface antigens were positive for CD3, CD59, CD106 and CD138, and negative for CD4, CD5, CD8, CD10, CD13, CD14, CD19, CD20, CD22, CD29, CD31, CD33, CD34, CD38, CD44, CD49d, CD45, CD54, CD56 and HLA-DR by flow cytometry. Chromosomal analysis revealed a hypodiploidy and complex karyotype. WuS1 cells were negative for Epstein-Barr virus by PCR using EBV nuclear antigen-1 specific primers. Twelve SCID mice were injected with WuS1 cells intravenously or subcutaneously, and obvious tumor infiltration in bone marrow, liver, spleen, lung, kidney and injection site (subcutaneously group) were observed by pathologic examination. [Display omitted] The novel WuS1 cell line will be useful in the study of the biology, etiology and treatment of multiple myeloma.

Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase‐associated neurodegeneration

We investigated the presence of mutations in the pantothenate kinase (PANK2) gene in a 27-year-old male Chinese patient with atypical pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Automated DNA sequence analyses revealed compound heterozygous mutations in the exon 3 and 5. This patient had a 10-year history of PKAN characterized by a slight tremor of the right hand when writing at onset and a slow progressive rigidity of the neck and the right arm and resting tremor in upper extremities. Dysarthria, dysphagia, and dystonic-athetoid movements of the face and right fingers were marked. Magnetic resonance showed the typical "eye-of-the-tiger" sign.

Mesothelial/monocytic incidental cardiac excrescences of the heart: case report and literature review

Mesothelial/monocytic incidental cardiac excrescences (MICE) of the heart are rare benign entities that have only been diagnosed incidentally, following cardiac surgical procedure. To date, totally 35 cases have been reported in the English literature. We describe an additional case of cardiac MICE presenting with severe aortic regurgitation for aortic valve replacement in a 20-year-old Chinese male patient. On microscopic examination, the findings initially were confused with true neoplasm. However, the related gross appearance, clinical history and further immunohistochemical staining enabled an accurate diagnosis. We review the relevant literature and found that immunohistochemical staining, especially the anti-cytokeratin antibody (AE1/AE3) and KP1 (CD-68) that were used by most investigators previously, was significant while making the diagnosis, because the two components of the cells show a contrast immunoreactivity to these two makers. The pathologists should always be alert to this entity while diagnose a cardiac surgery specimen.

Hyperglycemia, hyperlipemia, and periodic paralysis: a case report of new side effects of clozapine

1. 1. This case report of a Chinese male schizophrenic patient describes new side effects that have not been documented previously for patients treated with clozapine. At certain doses of clozapine, the patient showed direct adverse reactions, which include a combination of hyperglycemia, hyperlipemia, and periodic paralysis. 2. 2. In a four-year study of this patient who had no previous episodes of diabetes in his or his family history, the authors found that these symptoms disappeared upon withdrawal of clozapine and relapsed with re-treatment of the drug. 3. 3. This study indicates that hyperglycemia, hyperlipemia, and periodic paralysis may need to be monitored on patients treated with clozapine.

17α-Hydroxylase deficiency with persistence of müllerian ducts in a genotypic male and paradoxical aldosterone secretion

We report a case of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency in a Chinese genotypic male patient. Despite the male genotype, normal female external genitalia were present and with the introduction of cyclical oestrogen therapy withdrawal bleeding occurred, confirming the presence of functional endometrial tissue. We believe this to be the first report of persistent Mullerian duct structures in a genotypic male with 17 alpha-hydroxylase deficiency. It could be explained by either impaired secretion or impaired action of anti-Mullerian hormone. Further, contrary to the usual finding of suppressed aldosterone secretion, this patient had measurable levels of plasma aldosterone.

Synovial chondromatosis of the temporomandibular joint

Synovial chondromatosis is a benign, chronic, progressive synovial metaplasia that will not resolve spontaneously. Although it is non-neoplastic, the condition can easily be mistaken histologically as malignant. One Chinese male patient with synovial chondromatosis of the temporomandibular joint is described.Awareness of this rare lesion is important to prevent overdiagnosis and radical treatment. Treatment consists of synovectomy and removal of loose bodies within the joint space.

Accidental injection of oily contrast into the splenoportal system in a case of tuberculosis of the spleen.

The clinical value of fistulography and sinography is well documented (Gage and Williams, 1943; Pendergrass and Ward, 1947; Dell, 1949; Goldfarb, Monafo and McAlister, 1964). It is common practice to introduce the contrast material under fluoroscopy. Where the fistulous openings are such that even the best instruments fail to prevent regurgitation of the contrast during injection, the “overcouch” method is a satisfactory alternative. Saxton and Strickland (1964) advocate its use particularly in the investigation of sinuses which are suspected to originate from bone infection, a situation in which films with sharp definition are required. An inherent drawback of this technique is the inability to make full use of fluoroscopic control during contrast injection. A rare case of primary splenic tuberculosis is presented here to record an unusual complication which might have been avoided if fluoroscopy had been used. S.Y.P., a male Chinese patient aged 63 years, presented in June, 1968 with a chronic discharging sinus in the left hypochondrium of ten months’ duration. He had been a known diabetic for the past ten years and between 1963 and 1965 was treated for pulmonary tuberculosis. Towards the middle of 1967 he developed a tender, hard, left hypochondrial swelling. This was incised and drained, but the wound did not heal. During the same period a similar swelling appeared in his left loin. It was drained and the wound healed spontaneously.