Flexi-Myo Panel Strategy: Genomic Diagnoses of Myopathies and Muscular Dystrophies by Next-Generation Sequencing.

Aims: Muscle disorders are clinically and genetically heterogeneous. Investigations, including plasma creatine kinase, electromyography, and nerve conduction velocity studies are often nonspecific, whereas muscle biopsy might be limited by sampling bias and variable histopathology. Next-generation sequencing is now generally considered an important diagnostic tool for muscle disorders, with decreased costs and improved diagnostic yield. Inclusion of a large number of genes in the analysis might, however, generate a large number of ambiguous results and create unnecessary confusion for clinicians and patients. Methods: An ethnic Chinese patient presented at age 10 with tip-toe walking. Upon examination the patient had a waddling gait, a tight Achilles tendon with pes cavus. A muscle biopsy showed the presence of minicores with disruption of the myofibrillary network and Z-bands. Sequencing was performed using the Flexi-Myo panel, which provides coverage for 85 myopathic genes. Reporting of sequencing results was decided by the responsible chemical pathologists based on the available clinical and genetic information. Results: A previously identified heterozygous in-frame deletion was detected in MYH7, which confirmed the diagnosis of Laing myopathy. No variants of uncertain significance required reporting. Conclusion: We describe the effectiveness of our Flexi-Myo panel approach for the diagnosis of muscle disorders, which confirmed diagnosis of Laing myopathy in what had been a clinically ambiguous presentation. This approach enables efficient genomic testing for muscle diseases in adults and children with satisfactory diagnostic yield and sufficient sensitivity, whereas avoiding the reporting of ambiguous results. Similar strategies might also be implemented for other groups of disorders.

The role of barium swallow pharyngoesophagography in the management of the globus pharyngeus: our ten years local experience of asian population.

Patients with globus pharyngeus referred for barium swallow pharyngoesophagography in a local hospital from 1/7/1999 to 30/6/2009 were identified. Their fluoroscopic images were reviewed, and their outcomes were used as gold standard. A total of 908 patients with globus pharyngeus were referred for barium swallow in the period. There were 783 patients with normal barium swallow and 125 patients with abnormal barium swallow findings. All patients aged below 30 years had normal barium swallow result and unremarkable follow up. The sensitivity and specificity of barium swallow were 25.6 and 97.5% respectively; and the positive predictive value and negative predictive value were 61.5 and 89.1% respectively. The overall accuracy was 87.6%. Barium swallow is of limited diagnostic value in patients with typical globus pharyngeus, and it is not recommended in these patients, especially with young age.

Renal length nomogram in Hong Kong Asian children: sonographic measurement and multivariable approach.

AIM: The purpose of our study was to build a multiple renal length nomogram for Hong Kong Asian children based on normal renal ultrasonography. METHODS: All children below the age of 13 years, who underwent ultrasonography in a local Hospital in Hong Kong from 23 September 2008 to 31 January 2009 due to melamine exposure were identified. RESULTS: A total of 3031 normal children were identified. Hong Kong Asian children have smaller kidneys as compared with the Western. Age, bodyweight and body height are the significant factors in the multiple nomogram model of renal length. The interaction between body ln(weight) (ln stands for natural logarithm) and age as well as body height and age are also significant in the model. CONCLUSION: Our study provides a practical multiple nomogram of renal length for Hong Kong Asian children.

Imaging in pediatric urinary tract infection: a 9-year local experience.

OBJECTIVE: Urinary tract infection (UTI) is a common disease entity in children, and a number of imaging options are offered for these patients. The purpose of our study was to retrospectively describe the (99m)Tc-labeled dimer captosuccinic acid (DMSA) renal scintigraphy, ultrasound, and micturating cystourethrography (MCU) findings over a 9-year period. MATERIALS AND METHODS: All children younger than 10 years old who presented to a local hospital in Hong Kong between July 1, 1997, and June 30, 2006, with culture-confirmed UTI and who subsequently underwent DMSA scintigraphy, ultrasound, and MCU were identified. For the purpose of this study, patients with underlying major congenital urinary tract abnormalities were excluded. DMSA scintigraphy was regarded as the gold standard for the diagnosis of renal scarring. DMSA scintigraphy, ultrasound, and MCU findings and clinical outcomes were reviewed and analyzed. RESULTS: A total of 583 children were included in the study. Of these, 432 children (74.1%) had normal findings on ultrasound and on MCU. Only 13 children (3%) of this group had renal scarring as shown on DMSA scintigraphy. The overall negative predictive value (NPV) for excluding renal scarring of combined ultrasound and MCU reached 97%. The NPV was 97.7% in the subgroup of patients 0 to 2 years old. CONCLUSION: For children younger than 2 years with UTI in the absence of underlying major congenital urinary tract abnormalities, we recommend that DMSA scintigraphy may be withheld if findings on both ultrasound and MCU examinations are normal.