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.

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

Drug-Related Side Effects and Adverse Reactions ; Emergency Service, Hospital ; Hospitals, General ; Humans ; Pharmaceutical Preparations ; Poisoning ; Retrospective Studies

*Abnormalities, Multiple/radiography ; Basilar Artery/*abnormalities ; Basilar Artery/radiography ; Carotid Artery, Internal/radiography ; Intracranial Aneurysm/*complications ; Intracranial Aneurysm/radiography ; Vertebral Artery/radiography

Objective: To analyze the mortality and years of life lost (YLL) trends of cervical cancer in Tianjin, and provide references for the research and prevention programs of cervical cancer. Methods: Mortality rate, standard mortality rate, cumulative rate (0-74 years-old) and truncated rate (35-64 years-old) of cervical cancer from 1999 to 2015 were calculated. The annual percentage change of the mortality rate and YLL rate were analyzed by using Joinpoint regression analysis, and the trend in different age-groups were analyzed. Results: From 1999 to 2015, 1 741 cases died of cervical cancer in Tianjin, the average crude mortality rate was 2.15/100 000. The average age-standardized rate of (ASR) China and ASR world were 1.47/100 000 and 1.50/100 000 respectively. The average YLL was 3 347.97 person-years. Deaths occurred in those aged 0-34 years, 35-64 years and 65 years and over accounted for 3.10%, 57.84% and 39.06% of the total, respectively. The mortality rate of cervical cancer in urban area was higher than that in rural area, with a ratio of 1.37∶1 between urban area and rural area. The age-specific mortality rate of cervical cancer during 1999-2015 increased with age. Two peaks of mortality rate were observed in those aged 50 years and aged 75 years, during 2014-2015. From 1999 to 2011, the mortality rate of cervical cancer was stable (APC=-0.2%, P=0.80), but there was a rapid increase from 2011 to 2015 (APC=21.6%, P<0.01). But group aged 20-49 years, it showed an upward trend from 1999 to 2015 (APC=6.9%, P<0.01). For group aged 50-69 years, it showed a downward trend from 1999 to 2007 (APC=-9.2%, P<0.01), and an upward trend from 2007 to 2015 (APC=14.5%, P<0.01). For group aged 70 years and over, it showed a downward trend from 1999 to 2009 (APC=-10.2%, P<0.01), but the difference in the mortality were not significant from 2009 to 2015 (APC=7.8%, P=0.10). Since 2008, the YLL rate of cervical cancer in group aged 50-70 years had exceeded that in group aged >70 years and the gap gradually widened. Conclusions: There had been a rapid increase trend of cervical cancer mortality since 2011 in Tianjin. Women aged 50-70 years were the main group of life loss.
Adolescent ; Adult ; Aged ; China/epidemiology* ; Female ; Humans ; Incidence ; Middle Aged ; Mortality/trends* ; Regression Analysis ; Residence Characteristics ; Survival Rate/trends* ; Uterine Cervical Neoplasms/mortality* ; 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

Abnormalities, Multiple ; diagnostic imaging ; Basilar Artery ; abnormalities ; diagnostic imaging ; Carotid Artery, Internal ; diagnostic imaging ; Humans ; Intracranial Aneurysm ; complications ; diagnostic imaging ; Male ; Middle Aged ; Radiography ; Vertebral Artery ; diagnostic imaging

Percutaneous endoscopic gastrostomy (PEG) is commonly performed for feeding difficulties, in patients suffering from complications of nasopharyngeal carcinoma and its treatment, namely radiotherapy and surgery. This case report describes the challenges in hemostasis and subsequent re-establishment of enteral access for feeding, in an elderly patient with a history of NPC, treated surgically, followed by radiotherapy, who presented with massive hematemesis following reinsertion of her PEG shortly after an accidental dislodgement. Her previous nasopharyngectomy, wide field radiation therapy, and radical neck dissection precluded nasogastric tube feeding, and the presence of a large hiatus hernia made reinsertion of a new PEG technically challenging. This case highlights the methods used to overcome the above challenges.
Aged ; Enteral Nutrition ; Esophageal Stenosis ; Gastrostomy ; Hematemesis ; Hemostasis ; Hernia, Hiatal ; Humans ; Intubation, Gastrointestinal ; Neck Dissection ; Radiotherapy ; Stomach Ulcer ; Ulcer

INTRODUCTIONThe paediatric hearing impairment caregiver experience (PHICE) questionnaire is a 68-item instrument that assesses the stress experienced by caregivers of children with hearing impairment (HI). While the questionnaire has been validated in the United States, it may need to be modified for use in the Singapore context due to the differing healthcare system, costing and culture related to caregiving for children with HI. This study aims to modify and validate the PHICE questionnaire to increase its relevance and ease of use in Singapore.

MATERIALS AND METHODSThe original PHICE questionnaire was filled out by 127 caregivers of HI children managed at the otolaryngology clinic of the National University Hospital (NUH). An expert panel was convened to assess the questionnaire for its suitability for use in Singapore. Exploratory factor analysis was conducted to evaluate the underlying factor structure of the original PHICE questionnaire. Items with high cross-loadings were removed and a new factor structure was adopted which was further analysed using confirmatory factor analysis (CFA). Cronbach's alpha (α) was computed to determine the internal consistency of the new subscales.

RESULTSItems that are less relevant in Singapore and those with high cross-loadings were removed. A 5-factor structure with only 42 items remaining and corresponding to the factors: " Policy", "Healthcare", "Education", "Support" and "Adaptation" was adopted. CFA suggests a good model fit for the modified questionnaire, improved from the 8-factor structure of the original PHICE. Cronbach's α were high (>0.7) for each new subscale.

CONCLUSIONThe original PHICE questionnaire has been shortened and reorganised in terms of the subscales composition. The resulting instrument is structurally valid and internally consistent. It is a simple and useful tool for identifying factors related to caregiving that can negatively impact rehabilitation outcomes for children with HI in Singapore. Removal of some sign language items makes this modified version less useful for caregivers, places or countries where sign language is the main focus of rehabilitation for children with HI.

Adolescent ; Caregivers ; Child ; Child, Preschool ; Female ; Hearing Loss ; therapy ; Humans ; Infant ; Infant, Newborn ; Male ; Singapore ; Surveys and Questionnaires