We report an apparently benign familial 9p subtelomere deletion identified using chromosome-arm-specific subtelomere probes in a patient with multiple congenital anomalies. Our experience demonstrated that the discovery of a subtelomeric deletion and/or duplication does not always guarantee the identification of the etiology for the patient's phenotype and a positive finding with subtelomere probes should always be followed by parental study with the same probe in order to distinguish a disease causing alteration from a benign familial polymorphism.

Adolescent ; Adult ; Dysgerminoma ; etiology ; genetics ; Female ; Gonadal Dysgenesis ; genetics ; Gonadal Dysgenesis, 46,XY ; genetics ; Humans ; Ovarian Neoplasms ; genetics

With relatively low rejection rate and better visual prognosis, Descemet membrane endothelial keratoplasty (DMEK) has become the mainstream surgery for the treatment of endothelial dysfunction in some developed countries, but it has not been applied widely in China due to technical difficulties, the long learning curve, shallow anterior chamber of Chinese people, and the fact that domestic corneal endothelial lesions are often accompanied with other complex eye diseases.In this review, the indications, donor graft preparation including donor selection, graft preparation techniques and visualization of graft, key surgical techniques including the implantation, unwrapping and positioning of graft, postoperative complications including graft detachment, high intraocular pressure, rejection, endothelial cell loss, graft survival rate, and visual prognosis of DMEK were reviewed.

Humans ; Osteogenesis ; Mesentery/surgery* ; Ossification, Heterotopic/surgery*

BACKGROUND: A herbal preparation, known as RMIT Chinese Medicine 102 (RCM-102) consisting of eight herbs which demonstrates inhibition of the release of key inflammatory mediators associated with seasonal allergic rhinitis (SAR) was used. This study evaluated the efficacy and safety of RCM-102 for SAR. OBJECTIVE: This study evaluated the efficacy and safety of RCM-102 for SAR. METHODS: This randomised placebo-controlled trial involved subjects aged between 18 and 65 who were randomly assigned to either RCM-102 or a placebo group. After a two-week baseline period, all subjects took either RCM-102 or placebo capsules (two capsules each time, three times daily with a four hour interval) for a period of eight weeks. The primary end-points were the Five-Point Scale symptom scores. Rhinoconjunctivitis Quality of Life Questionnaire, relief medication usage, adverse events, kidney and liver function tests and full blood examination were secondary end-points. Intention-to-treat analysis was applied. RESULTS: One hundred and four subjects were randomised with 52 in each group. Ninety-five subjects (47 and 48 subjects in RCM-102 and placebo groups) completed the trial. Nine subjects withdrew from the study prior to the end of the second treatment week. At the end of the trial, there were no significant differences between the two groups with respect to all outcome measures. There were no liver or kidney function abnormalities reported. CONCLUSION: This mechanism-based RCM-102 was safe but not more beneficial than placebo for patients with SAR.
Asian Continental Ancestry Group ; Capsules ; Herbal Medicine ; Humans ; Kidney ; Liver ; Liver Function Tests ; Outcome Assessment (Health Care) ; Plant Preparations ; Quality of Life ; Rhinitis, Allergic, Seasonal ; Seasons

This review addresses the importance of psychoneuroimmunology (PNI) studies in understanding the role of acute and chronic psychological stressors on the immune system and development of coronary artery disease (CAD). Firstly, it illustrates how psychological stressors change endothelial function and lead to chemotaxis. Secondly, acute psychological stressors lead to leukocytosis, increased natural killer cell cytotoxicity and reduced proliferative response to mitogens while chronic psychological stressors may lead to adverse health effects. This will result in changes in cardiovascular function and development of CAD. Thirdly, acute and chronic psychological stressors will increase haemostatic factors and acute phase proteins, possibly leading to thrombus formation and myocardial infarction. The evidence for the effects of acute and chronic psychological stress on the onset and progression of CAD is consistent and convincing. This paper also highlights potential research areas and implications of early detection of immunological changes and cardiovascular risk in people under high psychological stress.
Acute-Phase Proteins ; Coronary Artery Disease ; immunology ; psychology ; Humans ; Inflammation ; psychology ; Myocardial Infarction ; immunology ; psychology ; Stress, Psychological ; immunology ; Thrombosis ; immunology ; psychology

Objective: To investigate the rates on prevalence, awareness, treatment and control of hypertension in population older than 15 years of age in Beijing, 2013-2014. Methods: A cross-sectional survey was conducted in Beijing between 2013-2014. Stratified multistage random sampling method was used to select representative sample of 13 057 Chinese individuals aged over 15 years, from the general population. Blood pressure was measured for three readings at sitting position after resting for at least five minutes with an average reading recorded. A standardized structured questionnaire was developed to collect history of hypertension and antihypertensive treatment. Results: A total of 4 663 community residents aged over 15 years were hypertensive among the 13 057 individuals, with the standardized prevalence rate as 32.7%, in Beijing area. The age-standardized prevalence rates of hypertension appeared 34.6% in men and 30.8% in women. The age-and sexstandardized prevalence of hypertension rates were 33.3% in urban and 24.6% in rural areas. The prevalence of hypertension increased with age and appeared higher in men than in women, in urban than in rural residents. Among the hypertensive patients, rates of awareness, treatment and control were 66.8%, 64.6% and 31.6%, respectively. Conclusion: High prevalence of hypertension with low rates on awareness and treatment and control, appeared in the general population of Beijing. Related strategies should be developed regarding prevention, control and management of hypertension, to reduce the burden of this disease.
Adolescent ; Adult ; Age Distribution ; Aged ; Antihypertensive Agents/therapeutic use* ; Asian People/statistics & numerical data* ; Awareness ; Blood Pressure ; Blood Pressure Determination ; China/epidemiology* ; Cross-Sectional Studies ; Female ; Health Knowledge, Attitudes, Practice ; Humans ; Hypertension/epidemiology* ; Male ; Middle Aged ; Prevalence ; Rural Population ; Sex Distribution ; Surveys and Questionnaires ; Urban Population ; Young Adult

OBJECTIVEThe aim of this study is to investigate the release of TNF-alpha mRNA in two lung cancer cell lines in vitro and the regulation of TNF-alpha mRNA expression by ionizing radiation.

METHODSTwo lung cancer cell lines (A549 and NCI-H596) were investigated for their TNF-alpha mRNA expression before and after exposure to different irradiation doses (2, 5, 10, 20, 30 and 40 Gy) and at different time intervals (1, 3, 6, 12, 24, 48 and 72 hours after irradiation). The TNF-alpha mRNA expression was quantified by fluorescence-based real-time quantitative RT-PCR. Colony formation assays were performed after irradiation with a dose of 2, 4, 6, and 8 Gy to determine the clonogenic survival.

RESULTSDependent on the dose given, irradiation was found to cause increasing induction of TNF-alpha mRNA expression of NCI-H596 cells, reaching maximal level after 40 Gy irradiation, which was 83 times higher than that of normal controls. On the other hand, dependent on the time after irradiation, TNF-alpha mRNA expression of NCI-H596 and A549 cells was increased, reaching maximal level at 6h for NCI-H596 cells, which was 568 times higher than that of normal control cells. TNF-alpha mRNA expression of A549 cells was increased to maximum at 1 h after irradiation and was 136 times higher than that of control cells. Colony formation efficiency (number of colonies divided by the number of inoculated cells) of unirradiated control A549 and NCI-H596 cells was 0.37-0.45 and 0.12-0.24, respectively. The survival fraction (SF) of A549 cells was 47.3% +/- 9.0% at 2 Gy, 18.0% +/- 3.0% at 4 Gy, 6.0% +/- 2.0% at 6 Gy, 1.4% +/- 0.3% at 8 Gy. The SF of NCI-H596 cells was 55.2% +/- 51.0% at 2 Gy, 15.9% +/- 9.2% at 4 Gy, 3.5% +/- 1.7% at 6 Gy; 0.9% +/- 0.6% at 8 Gy. The curves of TNF-alpha expression of the two tumor cell lines were nearly identical, therefore the radiosensitivity of these cell lines was similar. Statistically there was no significant difference for D(0) and D(q) (P > 0.05).

CONCLUSIONThe two lung cancer cell lines studied express TNF-alpha following irradiation in a time- and irradiation dose-dependent manner. Radiation-induced TNF-alpha production of tumor cells may be of paramount importance not only for tumor behaviour, but also in respect to potential damage to normal tissues and the clinical status of the host.

Adenocarcinoma ; diagnostic imaging ; metabolism ; pathology ; Carcinoma, Squamous Cell ; diagnostic imaging ; metabolism ; pathology ; Cell Line, Tumor ; Humans ; Lung Neoplasms ; diagnostic imaging ; metabolism ; pathology ; RNA, Messenger ; biosynthesis ; genetics ; Radiation Dosage ; Radiography ; Reverse Transcriptase Polymerase Chain Reaction ; Tumor Necrosis Factor-alpha ; biosynthesis ; genetics

INTRODUCTIONMotor neuron damage and cortical spinal tract (CST) degeneration in amyotrophic lateral sclerosis (ALS) are difficult to visualise and quantify on conventional magnetic resonance imaging (MRI).

CLINICAL PICTUREWe studied 8 ALS patients and 12 normal volunteers using diffusion tensor imaging (DTI) and fibre tractography using fibre assignment by continuous tracking (FACT) to study the fibres of the CST and the posterior thalamic radiation (PTR), a nonmotor tract.

OUTCOMEFibre tractography was successfully performed in all normal volunteers and all patients except 1. The fibre bundles of the CST, but not the PTR, were significantly reduced (P <0.05) in patients compared to normal volunteers.

CONCLUSIONFibre tractography can visualise axonal degeneration in the CST and may provide supplementary information about upper motor neuron disease in ALS patients.

Amyotrophic Lateral Sclerosis ; pathology ; Case-Control Studies ; Diffusion Magnetic Resonance Imaging ; Echo-Planar Imaging ; Female ; Humans ; Male ; Middle Aged ; Nerve Degeneration ; pathology ; Pyramidal Tracts ; pathology

PURPOSE: Obesity is a significant risk factor for pelvic organ prolapse (POP), but the effects of obesity on outcomes of surgery for POP are poorly understood. The aim of this study was to assess the relationship between POP symptomatology, subjective outcomes of surgery and body mass index (BMI) in women undergoing vaginal hysterectomy for POP. METHODS: Pre- and postoperative data from a validated pelvic floor questionnaire (electronic Personal Assessment Questionnaire-Pelvic Floor) were collected prospectively from 60 women undergoing vaginal hysterectomy for POP. Of these, 20 were normal weight (BMI 18.5–24.9 kg/m²), 20 were overweight (BMI 25–29.9 kg/m²), and 20 were women with obesity (BMI 30–34.9 kg/m²). The relationship between BMI and symptom scores for prolapse, impact on vaginal symptoms on quality of life (VS-QoL) and ‘overall change in condition’ was assessed. Pre- and postoperative symptom scores were compared using repeated mixed analysis of variance test for BMI as a categorical variable (normal, overweight, and obese). Spearman rank order correlation test was carried out to evaluate BMI as a continuous variable. All women underwent vaginal hysterectomy using a standardized technique. RESULTS: Overall, 93% of women reported improvement in their condition. The main finding was that ‘overall change in condition’ was negatively correlated with increasing BMI (r(s)=-0.324, P=0.028). Irrespective of BMI, significant improvements were observed in symptoms of prolapse and VS-QoL at 3-month postoperation. CONCLUSIONS: With increasing BMI, women are likely to report lower levels of satisfaction following prolapse surgery, despite reporting equivalent improvements in symptoms. BMI is known to affect how individuals perceive their general health and well-being with obese individuals reporting poorer levels of subjective health status. Women with obesity may perceive change in their condition after prolapse surgery differently to women of normal weight. Reduction of weight prior to prolapse surgery could be considered in obese women to improve subjective outcomes of surgery.
Body Mass Index ; Diagnostic Self Evaluation ; Female ; Humans ; Hysterectomy ; Hysterectomy, Vaginal ; Obesity ; Overweight ; Patient Outcome Assessment ; Pelvic Floor ; Pelvic Organ Prolapse ; Prolapse ; Prospective Studies ; Quality of Life ; Risk Factors