The relationship between visceral adiposity and cardiometabolic risk in Chinese women with polycystic ovary syndrome.

OBJECTIVE: To compare the extent to which visceral adiposity, as measured by mesenteric fat thickness, contribute to cardiometabolic risk, especially insulin resistance, in women with PCOS and healthy control. METHODS: This is a cross-sectional study with a total of 190 women with PCOS fulfilling the Rotterdam diagnostic criteria. Women without PCOS were recruited from a previous study, which comprised 416 healthy women controls with normal glucose tolerance. All subjects underwent OGTT, biochemical assessment, and sonographic assessment with measurements of mesenteric, preperitoneal and subcutaneous fat thickness. RESULTS: Mesenteric fat thickness was strongly correlated to cardiometabolic traits including blood pressure, fasting and 2-h glucose, triglycerides, HOMA-IR; and was negatively correlated to HDL-C in both cohorts (all p < 0.01). In PCOS, positive correlation was observed between mesenteric fat thickness and free androgen index (p < 0.01). Compared with controls, the regression line between mesenteric fat and HOMA-IR is much steeper in PCOS (p < 0.01). CONCLUSION: Women with PCOS remain more insulin resistant compared to controls at any given degree of visceral adiposity.

Sequential spine-hand radiography for assessing skeletal maturity with low radiation EOS imaging system for bracing treatment recommendation in adolescent idiopathic scoliosis: a feasibility and validity study.

PURPOSE: The EOS-imaging system is increasingly adopted for clinical follow-up in scoliosis with the advantages of simultaneous biplanar imaging of the spine in an erect position. Skeletal maturity assessment using a hand radiograph is an essential adjunct to spinal radiography in scoliosis follow-up. This study aims at testing the feasibility and validity of a newly proposed EOS workflow with sequential spine-hand radiography for skeletal maturity assessment and bracing recommendation. METHODS: EOS spine-hand radiographs from patients with diagnosis of idiopathic scoliosis, including both sexes and an age range of ten to 14 years, were scored using the Thumb Ossification Composite Index (TOCI), Sanders and Risser methods. Intraclass correlation coefficients (ICCs) were calculated for inter/intraobserver agreement and were tested with Cronbach's alpha values. RESULTS: In all, 60 EOS-spine hand radiographs selected from subjects with diagnosis of adolescent idiopathic scoliosis (AIS), including 32 male patients (mean age 11.53 years; 10 to 14) and 28 female patients (mean age 11.50 years; 10 to 13) who underwent sequential spine-hand low dose EOS imaging were generated for analysis. The overall interobserver (ICC = 0.997) and intraobserver agreement (α > 0.9) demonstrated excellent agreement for TOCI staging; ICC > 0.994 for both TOCI and Sanders staging comparing traditional digital versus EOS hand radiography; ICC ≥ 0.841 for agreement on bracing recommendation among TOCI versus the Risser and Sanders system. CONCLUSION: With the proposed new EOS workflow it was feasible to produce high image quality for skeletal maturity assessment with excellent reliability and validity to inform consistent bracing recommendation in AIS. The workflow is applicable for busy daily clinic settings in tertiary scoliosis centres with reduced time cost, improved efficiency and throughput of the radiology department. LEVEL OF EVIDENCE: III.

Molecular and clinical characterization of citrin deficiency in a cohort of Chinese patients in Hong Kong.

BACKGROUND AND OBJECTIVES: This retrospective study analysed a case series of subjects with citrin deficiency, and aims to present the molecular and clinical characterization of this disease in the Hong Kong Chinese population for the first time. PATIENTS AND METHODS: Data from medical records of eighteen patients with citrin deficiency (years 2006-2015) were retrieved. Demographic data, biochemical parameters, radiological results, genetic testing results, management, and clinical outcome were collected and analysed. RESULTS: Eighteen patients with diagnosis of citrin deficiency were recruited. All 18 patients carried at least one common pathogenic variant c.852_855delTATG in SLC25A13. Prolonged jaundice (neonatal intrahepatic cholestasis caused by citrin deficiency, NICCD) was the most common presenting symptom, in conjunction with elevated plasma citrulline, threonine, alkaline phosphatase, and alpha-fetoprotein levels. The abnormal biochemical parameters including liver derangement returned to normal range in most of the cases by 6 months of age after the introduction of a lactose-free formula. There were a few cases with atypical presentations. Two subjects did not present with NICCD, and were subsequently diagnosed later in life after their siblings presented with symptoms of citrin deficiency at one month of age and subsequently received a molecular diagnosis. One patient with citrin deficiency also exhibited multiple liver hemangioendotheliomas, which subsided gradually after introduction of a lactose-free formula. Only one patient from this cohort was offered expanded metabolic screening at birth. She was not ascertained by conducted newborn screening and was diagnosed upon presentation with cholestatic jaundice by 1 month of age. CONCLUSION: This is the first report of the clinical and molecular characterization of a large cohort of patients with citrin deficiency in Hong Kong. The presentation of this cohort of patients expands the clinical phenotypic spectrum of NICCD. Benign liver tumors such as hemangioendotheliomas may be associated with citrin deficiency in addition to the well-known association with hepatocellular carcinoma. Citrin deficiency may manifest in later infancy period with an NICCD-like phenotype. Furthermore, this condition is not always ascertained by expanded newborn metabolic screening testing.

Dietitian-led lifestyle modification programme for obese Chinese adolescents with non-alcoholic fatty liver disease: a randomized controlled study.

BACKGROUND: The prevalence of non-alcoholic fatty liver disease (NAFLD) in children is increasing. This study evaluated the efficacy of a dietitian-led lifestyle modification programme (D-LMP) to reduce NAFLD in obese adolescents. METHODS: Subjects with intra-hepatic triglyceride content (IHTC) equal to or greater than 5% diagnosed by proton-magnetic resonance spectroscopy (1H-MRS) were enroled and randomly assigned to either the D-LMP intervention or conventional paediatrician-led consultation (P-CON) group. Subjects in the P-CON group received usual care consisting of a consultation by a paediatrician with the child and parents every 16 weeks. Intention-to-treat analysis was used for data analysis. RESULTS: Fifty-two subjects were recruited, with 26 in each group. After the initiation phase (at week-16), there was a greater difference in the change in the IHTC and BMI z-score in the D-LMP group (P = 0.029 and <0.001, respectively) and there was a decrease in dietary intake of fat content (P = 0.019). After 52 weeks of the maintenance phase, both groups had reductions of IHTC to 2-3% and there was no intergroup difference in the rate of reduction. During the maintenance phase, parents' involvement was minimal in the D-LMP group, with only three parents accompanying their children to attend the dietitian sessions. In contrast, over 90% of the parents in the P-CON group regularly accompanied their children to attend the consultations suggesting the possibility that regular parental and paediatrician involvement may contribute to increasing awareness on fatty liver complications. Multivariate analysis showed that only reduction in body fat remained as an independent factor associated with remission of NAFLD at the end of both study phases. CONCLUSIONS: A dietitian-led lifestyle modification intervention reduced IHTC, BMI z-score and body fat in obese Chinese adolescents with NAFLD. To sustain the effect of this intervention, regular parental and paediatrician involvement may be important.

Liver fibrosis and fatty liver in Asian HIV-infected patients.

BACKGROUND: Little is known about the importance of liver fibrosis and fatty liver in HIV-monoinfected individuals without hepatitis virus co-infection, particularly among the Asian population. AIM: To evaluate prevalence and risk factors for liver fibrosis and fatty liver in Asian HIV-monoinfected individuals. METHODS: Eighty asymptomatic HIV-monoinfected individuals (tested negative for HBV/HCV) were compared with 160 matched HIV-uninfected healthy controls. Transient elastography and proton-magnetic resonance spectroscopy ((1) H-MRS) were performed to measure liver stiffness and hepatic steatosis respectively. Blood samples were analysed for metabolic profiles and markers of steatohepatitis (e.g. cytokeratin-18). RESULTS: All HIV-infected individuals (mean ± s.d. age 54 ± 11 years, male 93%, Chinese 94%; diagnosis median duration 8 (IQR 4-13 years) were stable on anti-retrovirals (PI-based 58.7%, NNRTI-based 25.0% integrase-inhibitors 16.3%); diabetes, dyslipidaemia, and metabolic syndrome were common. Fatty liver disease was detected in 28.7%. There was significantly higher degree of liver stiffness [4.9 (IQR 4.1-6.2) kPa vs. 4.2 (IQR 3.6-5.0) kPa, P < 0.001], and greater proportions developed significant fibrosis (7.0 kPa, 14.3% vs. 3.1%, P = 0.001) and cirrhosis (10.3 kPa, 5.2% vs. 0.6%, P = 0.040) compared with controls. HIV infection was an independent risk factor for significant fibrosis (adjusted OR 4.00, 95% CI 1.29-12.41, P = 0.016). HIV-infected individuals with fatty liver had excessive liver stiffness and fibrosis. Two cases of asymptomatic hepatocellular carcinoma were detected. CONCLUSIONS: HIV-monoinfected patients are at risk for liver fibrosis and cirrhosis. HIV-related mechanisms and fatty liver disease may play important roles. Screening and intervention to prevent severe outcomes should be considered.

Assessment of non-alcoholic fatty liver disease using serum total cell death and apoptosis markers.

BACKGROUND: The diagnosis of non-alcoholic fatty liver disease (NAFLD), non-alcoholic steatohepatitis (NASH) and fibrosis relies on liver biopsy. Non-invasive assessments are urgently needed. AIM: To evaluate cell apoptotic marker cytokeratin-18 M30 and total cell death markers cytokeratin-18 M65/M65ED for the assessment and monitoring of NAFLD. METHODS: A cohort of 147 patients with biopsy-proven NAFLD and 73 controls were enrolled, including 51 patients who received paired liver biopsies 36 months apart. Biomarkers were determined by enzyme-linked immunosorbent assay. RESULTS: M30, M65 and M65ED increased in a stepwise fashion in control subjects, patients with non-NASH, NAFLD and NASH (all P < 0.001). All biomarkers had similarly high accuracy over 0.9 in predicting NAFLD and moderate accuracy around 0.7 in predicting NASH. Among patients with paired liver biopsies, changes in M30, M65 and M65ED positively correlated with disease progression (rho = 0.42, 0.32 and 0.39; P = 0.002, 0.023 and 0.005 respectively), and only changes in M65 and M65ED correlated with fibrosis progression (rho = 0.29, 0.34; P = 0.038, 0.015 respectively). Both M30 and M65 had area under receiver-operating characteristics curve above 0.8 in predicting disease progression. At cut-off of 236 U/L, changes of M65ED had 88% NPV and 59% PPV to exclude and predict fibrosis progression. CONCLUSIONS: Cytokeratin-18 M30 and M65/M65ED have moderate accuracy in detecting non-alcoholic steatohepatitis. Changes in the biomarkers also correlate with histological progression. However, development of new biomarkers is still required to improve the diagnostic accuracy.

Pictorial review of mucopolysaccharidosis with emphasis on MRI features of brain and spine.

Mucopolysaccharidosis (MPS) is an inherited metabolic disorder of childhood, characterised by progressive multisystem involvement predominantly affecting the skeletal system leading to skeletal dysplasia. Mental retardation, neuropathy and cardiomyopathy may occur in the most severely affected patients, leading to progressive disability and death in their early third to fourth decades. The purpose of this paper is to illustrate the typical imaging features of different types of MPS, in particular the MR features of the brain and spine in MPS, which are expected to be encountered by radiologists more frequently in their clinical practice as a result of prolonged life expectancy for those with MPS with recent advances in therapeutic interventions. The treatment options and outcomes for MPS patients are also briefly discussed.

Clinical presentations and imaging findings of neuroblastoma beyond abdominal mass and a review of imaging algorithm.

Neuroblastoma is one of the most common malignant neoplasms in childhood. The most common clinical presentation of this tumour is abdominal mass. However, affected children may have various clinical presentations as a result of disseminated metastatic disease or associated paraneoplastic syndromes at the time of diagnosis. In this article we have outlined the imaging findings in seven patients with "extra-abdominal" presentation of neuroblastoma and the pitfalls in making the correct diagnosis. The purpose of this pictorial review is to alert the general radiologist to the possible presentations of this common childhood malignancy to derive early detection and diagnosis.

Sonographic measurement of mesenteric fat predicts presence of fatty liver among subjects with polycystic ovary syndrome.

OBJECTIVE: Visceral fat is believed to be important in the pathogenesis of metabolic syndrome and fatty liver. In this study, we examined the relationship between mesenteric fat thickness and other sonographic indices of adiposity and the presence of fatty liver among subjects with polycystic ovary syndrome (PCOS). SUBJECTS AND METHODS: A total of 117 Chinese subjects with PCOS were evaluated (mean age, 28.6 ± 6.5 yr; mean body mass index, 24.3 ± 5.3 kg/m(2)). Anthropometric measurements and metabolic risk profile, including a standard oral glucose tolerance test, were assessed in all subjects. All subjects underwent an ultrasound examination for measurement of thickness of mesenteric, preperitoneal, and sc fat as well as evaluation for fatty liver. RESULTS: Forty-six (39.3%) of the subjects had fatty liver. PCOS subjects with fatty liver had higher body mass index, waist circumference, waist-hip ratio, and systolic blood pressure; a more unfavorable lipid profile with higher triglyceride; lower high-density lipoprotein cholesterol; higher fasting glucose and insulin; higher 2-h glucose during oral glucose tolerance test; lower SHBG; and higher alanine aminotransferase. Subjects with fatty liver had increased thickness of preperitoneal, mesenteric, and sc fat, as well as increased carotid intima-media thickness. Abdominal fat thickness showed moderate correlation to alanine aminotransferase as well as fasting insulin. On multivariate logistic regression, fasting insulin and mesenteric fat thickness were identified as independent predictors of fatty liver among subjects with PCOS. CONCLUSION: Fatty liver is present in a significant proportion of Chinese patients with PCOS. Sonographic measurement of mesenteric fat is an independent determinant of fatty liver among subjects with PCOS and identifies subjects at increased cardiovascular risk.

Atypical location of germinoma in basal ganglia in adolescents: radiological features and treatment outcomes.

The objective of this work is to describe the imaging findings, clinical profile and treatment response in four Chinese adolescent patients presenting with ectopic germinoma arising from basal ganglia. The clinical presentation, treatment regimens and the imaging findings at presentation and after treatment were described upon retrospective review of four Chinese adolescent patients. CT of the brain showed mixed solid cystic mass lesions in three patients. In one patient, only ill-defined hyperdensity was noted in the affected basal ganglia. Correlative MRI brain studies showed similar findings of large solid cystic masses in three patients, whereas the fourth patient showed small hyperintensities on T2 weighted and fluid-attenuated inversion-recovery sequences. All lesions were confirmed to be germinomas on biopsy. Chemotherapy followed by radiotherapy was given to three patients. There was a dramatic response, with complete resolution of tumour bulk in two patients and >80% reduction in tumour bulk in one patient. Debulking surgery was performed in one subject who had received cranial radiotherapy; the last follow-up MRI showed no evidence of residual disease.

Intravenous leiomyomatosis: computed tomography diagnosis.

Intravenous leiomyomatosis is a rare neoplastic condition characterised by nodular masses of histologically benign smooth muscle growing within veins. In most cases, the disease is confined to the pelvic veins, but involvement may extend to the inferior vena cava and right heart chamber. We report the computed tomography features of a woman who developed extensive intravenous leiomyomatosis and lung metastases, and presented with acute-onset lower limb swelling.

Role of radiologic features in the management of papillary lesions of the breast.

OBJECTIVE: The purpose of our study was to assess the role of imaging and core biopsy in the management of patients with papillary lesions of the breast. MATERIALS AND METHODS: Clinical records and mammographic and sonographic findings of 40 women with papillary lesions in the breast were retrieved. The imaging features and cytologic findings were correlated with histologic findings. RESULTS: Fifty-six papillary lesions in 40 patients underwent either mastectomy, segmental duct resection, or excision biopsy. There were three papillary carcinomas, 13 papillaryal lesions with carcinoma in situ, one atypical papilloma, four sclerosed papillomata, and 35 papillomata. Of these lesions, 37.5% (21/56) and 82.1% (46/56) could be detected on mammography and sonography, respectively. Galactography and dilated ducts helped to suggest the papillary nature of the lesions. However, mammography and sonography were not able to predict malignancy (sensitivity, 69% and 56%, respectively; specificity, 25% and 90%; positive predictive value [PPV], 60% and 75%; and negative predictive value [NPV], 33% and 90%). Combined interpretation of mammography and sonography gave a sensitivity of 61%, specificity of 33%, PPV of 85%, and NPV of 13%. Fine-needle aspiration gave a sensitivity of 44%, specificity of 68%, PPV of 31%, and NPV of 79%, whereas core biopsy gave a sensitivity of 82%, specificity of 100%, PPV of 100%, and NPV of 83% in the diagnosis of malignancy. CONCLUSION: Radiologic features are not sufficiently sensitive or specific to differentiate benign from malignant papillary lesions. Fine-needle aspiration and core biopsy have pitfalls, and the need for surgical excision of all papillary lesions should be revisited.

Magnetic resonance cholangiography in children.

Magnetic resonance cholangiography has been shown to be useful in the evaluation of hepatobiliary problems in paediatric patients. Its clinical application in biliary atresia, choledochal cyst, cholelithiasis, bile plug syndrome and liver transplant are illustrated by the following cases.

Computer-assisted detection as a second reader in symptomatic Asian women with palpable breast cancer.

PURPOSE: To determine the potential role of a computer-assisted detection (CAD) algorithm as a second reader for experienced and inexperienced radiologists in mammography reading in Asian women. MATERIAL AND METHODS: Two-view mammograms performed in 124 consecutive patients who presented with palpable breast cancer masses were retrospectively evaluated by two experienced breast radiologists (7 and 10 years' experience). The original reports of the session radiologists with variable experience of reading mammograms (2 to more than 10 years) were also evaluated. The number of suspicious masses and microcalcification clusters detected in each patient by both groups of radiologists were recorded. The radiologists then re-evaluated the films with the CAD system as a second reader. Any improvement in the detectability of breast pathology by either the experienced radiologists and/or by the session radiologists was then assessed. A total of 127 breasts had biopsy-proven carcinoma; 74 breasts had mastectomy performed. All the imaging results were correlated with tru-cut biopsy or mastectomy histology. RESULTS: With CAD-aided interpretation, there were altogether 95 visible masses and 77 suspicious microcalcification clusters in 109 mammographically detectable cancers correlated with histology results. There was a 7.4% (7/95) and 10.4% (8/77) increase in the number of masses and microcalcification clusters detected, respectively, by the experienced radiologists after application of CAD, whereas the increase was 13.7% (13/95) and 27.3% (21/77) for detection of masses and microcalcifications by the session radiologists, respectively. In 9 patients, a secondary focus detected by CAD was confirmed by histology. Three patients had contralateral breast tumors, 1 had a satellite invasive tumor while 5 had ductal carcinoma in situ on the same breast. Based on the biopsies and 74 mastectomies, the true-positive and false-positive detection rate of CAD was 92.6% and 31.8% for detection of carcinomas. The true-positive and false-positive detection rates were 100% and 58.8% for microcalcification clusters. CONCLUSION: The current generation CAD algorithm helped to improve the detection rate of carcinomas, calcifications and multifocality in Asian breasts.

Sonographic appearance of mucinous carcinoma of the breast.

OBJECTIVE: The aim of this study was to evaluate the sonographic and mammographic features of mucinous carcinoma and to correlate the imaging features with two histologic classifications. MATERIALS AND METHODS: Two radiologists analyzed the mammographic and sonographic features of 33 mucinous carcinomas. Mammographic features according to the Breast Imaging Reporting and Data System (BI-RADS) and sonographic features were recorded and analyzed. The imaging features of the mass were correlated with the nuclear grade and mucin content of these 33 mucinous carcinomas. The incidence of axillary lymph nodes metastasis in different histologic grades and their detection by imaging were also assessed. RESULTS: As many as 21.2% (7/33) of mucinous carcinomas could not be detected mammographically. When they were detected mammographically, more than 92% of the tumors presented as a mass, either oval or lobular. Microlobulations were present in 38.5% of these lesions. The margin of the lesion as seen on mammography can be used to predict the histologic grade. A circumscribed margin was associated with a favorable histologic grade (p = 0.01), whereas an indistinct margin was more commonly associated with the mixed type of lesion (p = 0.05). Sonographically, mixed cystic and solid components, distal enhancement, and microlobulated margins were commonly found in mucinous carcinomas, with an incidence of 37.5%, 43.8%, and 56.3%, respectively. Homogeneity on sonography was associated with the pure type of mucinous carcinoma and hence a better prognosis. Sonography showed a sensitivity of 50%, specificity of 89%, positive predictive value of 60%, negative predictive value of 84%, and accuracy of 79.2% in the detection of axillary lymph node metastasis. CONCLUSION: Both sonographic and mammographic assessments are important in the correct diagnosis of mucinous carcinoma, the prediction of histologic grade, and the prognosis of the tumors.

Pulmonary tumour microembolism clinically mimicking alveolitis.

A 56 year old man with previously unsuspected recurrence of squamous cell carcinoma of the oesophagus presented with dyspnoea. Bronchoscopy and computed tomography suggested bronchopneumonic changes with an infectious cause. He suffered a rapidly deteriorating course and died despite active treatment, including antibiotics and mechanical ventilation. Necropsy revealed a florid pulmonary tumour microembolism mimicking alveolitis. No bronchopneumonia was seen. The emboli arose from loosely attached tumour vegetations in the tricuspid valve. In a patient with known malignancy, tumour microembolism should be considered as an uncommon cause of rapid respiratory failure, refractory to antibiotic treatment.

Fine needle aspiration cytology of granulomatous mastitis.

AIMS: Granulomatous mastitis (GM) is an uncommon breast lesion that mimics carcinoma. The fine needle aspiration cytological (FNAC) features of GM have rarely been discussed in the literature. These features are reported in eight histologically confirmed cases of GM. METHODS: A retrospective study was undertaken in which a diagnosis of GM had been made on histopathology, and the FNAC slides were reviewed and assessed for the presence of granulomas, necrosis, multinucleated giant cells, and inflammatory background cells. Polymerase chain reaction (PCR) for Mycobacterium tuberculosis was performed on the histological material to exclude tuberculosis. RESULTS: All cases were confirmed histologically and PCR for mycobacterial DNA was negative. In the FNACs, varying numbers of granulomas composed of epithelioid histiocytes were present in four cases. The same four cases showed giant cells of either foreign body or Langhan's type. No necrosis was noted. Six cases showed many histiocytes, some plump and others epithelioid, in the background. The number of epithelioid histiocytes corresponded to the presence of granulomas. Neutrophils were the predominant background inflammatory cells in most cases (six). CONCLUSIONS: The cytological diagnosis of GM is difficult because the features overlap with other aetiologies, including tuberculosis. Specific features are absent. The absence of necrosis and a predominantly neutrophilic infiltrate in the background favour a diagnosis of GM. This diagnosis should also be considered when abundant epithelioid histiocytes are seen in smears, even in the absence of granulomas. However, the definitive diagnosis of GM depends on histology from fine needle biopsies and negative microbiological investigations.

Imaging findings of paediatric oncology patients presenting with acute neurological symptoms.

Paediatric oncology patients are prone to central nervous system (CNS) complications due to multiple factors including disorders of the blood cell counts (which include neutropenia, thrombocytopenia or hyperleukocytosis), immunosuppression, neurotoxicity of the treatment, CNS dysfunction due to failure of other organ systems, disease progression of the primary malignancy or metastases. Imaging plays an important role in the management of paediatric oncology patients presenting with acute neurological symptoms. This pictorial review is from our institutional experience on imaging children who are under the care of the Child Cancer Centre. The review consists of a spectrum of neurological complications in paediatric oncology patients. The complications can be classified as (1) cerebrovascular complications, (2) treatment-elated complications, (3) opportunistic infections and (4) tumoural involvement of the CNS. Computed tomography (CT) is the initial choice of investigation, which is easily available and helps to exclude major intracranial abnormality such as haemorrhage. If the CT is negative, magnetic resonance imaging (MRI) should be performed, which is more sensitive for detection of CNS lesions.