Patients who have undergone neck dissection and radiotherapy are at risk of cervical spine infections. Furthermore, previous radiotherapy and cervical spine infections can lead to fistula formation to the subarachnoid space and intracranial infection. This report discusses the serious consequences of a missed cervical spine infection including cerebrospinal fluid fistula formation and persistent central nervous system infection, and serves as a reminder to clinicians of the possible association between cervical spine infections and prior head and neck surgery and radiotherapy. In all such cases, the posterior pharyngeal wall should be inspected during follow-up. Despite the appearance of an intracranial infection, the cervical spine should be investigated, especially if the response to appropriate antibiotics is suboptimal.
Anti-Bacterial Agents ; Central Nervous System Infections ; Cerebrospinal Fluid ; Discitis ; Fistula ; Follow-Up Studies ; Head ; Head and Neck Neoplasms* ; Humans ; Neck ; Neck Dissection ; Radiotherapy* ; Spine ; Subarachnoid Space

BACKGROUNDVon Hippel-Lindau (VHL) syndrome is an autosomal dominant familial cancer syndrome predisposing the affected individuals to multiple tumours in various organs. The genetic basis of VHL in Southern Chinese is largely unknown. In this study, we characterized the mutation spectrum of VHL in nine unrelated Southern Chinese families.

METHODSNine probands with clinical features of VHL, two symptomatic and eight asymptomatic family members were included in this study. Prenatal diagnosis was performed twice for one proband. Two probands had only isolated bilateral phaeochromocytoma. The VHL gene was screened for mutations by polymerase chain reaction, direct sequencing and multiplex ligation-dependent probe amplification (MLPA).

RESULTSThe nine probands and the two symptomatic family members carried heterozygous germline mutations. Eight different VHL mutations were identified in the nine probands. One splicing mutation, NM_000551.2: c.463+1G > T, was novel. The other seven VHL mutations, c.233A > G [p.Asn78Ser], c.239G > T [p.Ser80Ile], c.319C > G [p.Arg107Gly], c.481C > T [p.Arg161X], c.482G > A [p.Arg161Gln], c.499C > T [p.Arg167Trp] and an exon 2 deletion, had been previously reported. Three asymptomatic family members were positive for the mutation and the other five tested negative. In prenatal diagnosis, the fetuses were positive for the mutation.

CONCLUSIONSGenetic analysis could accurately confirm VHL syndrome in patients with isolated tumours such as sporadic phaeochromocytoma or epididymal papillary cystadenoma. Mutation detection in asymptomatic family members allows regular tumour surveillance and early intervention to improve their prognosis. DNA-based diagnosis can have an important impact on clinical management for VHL families.

Asian Continental Ancestry Group ; DNA Mutational Analysis ; Humans ; Polymerase Chain Reaction ; Sequence Analysis, DNA ; Von Hippel-Lindau Tumor Suppressor Protein ; genetics ; von Hippel-Lindau Disease ; genetics

Objectives: To evaluate the association of illicit drug use with bone mineral density (BMD) and hip geometric parameters at the narrow neck. Methods: This is a cross-sectional matched cohort study conducted in the Hong Kong Chinese population. Associations with illicit drug use were estimated using linear regression for BMD (lumbar spine and femoral neck) and hip geometrical parameters (cross-sectional area [CSA], cross-sectional moment of inertia [CSMI], section modulus [SM], average cortical thickness [ACT] and BMD at the narrow neck) after adjusting for age, body mass index (BMI), smoking status, drinking status, physical activity, and history of antipsychotic and antidepressant use. Mean difference and 95% confidence intervals (95% CI) were calculated between 108 illicit drug users and 108 controls using an adjusted linear model and cluster-robust standard errors after matching by age and sex. The false discovery rate was used to correct for multiple testing. Results: Illicit drug users had a significantly lower BMD (g/cm2 ) at the lumbar spine (mean difference: -0.062; 95% CI: -0.108 to − 0.015), and femoral neck (mean difference: -0.058; 95% CI: -0.106 to − 0.010) in the fully adjusted model. Illicit drug users also had a significantly lower CSA (mean difference: -0.238 cm2 ; 95% CI: -0.462 to − 0.013), ACT (mean difference: -0.018 cm; 95% CI: -0.030 to − 0.006) and BMD (mean difference: -0.070 g/ cm2 ; 95% CI: -0.128 to − 0.012) at the narrow neck. Conclusions Illicit drug use is associated with lower BMD and bone strength. Future studies evaluating the risk of illicit drug use with fragility fracture are warranted.