Clostridium difficile cure with fecal microbiota transplantation in a child with Pompe disease: a case report

Recurrent Clostridium difficile infection is a growing problem among children due to both the increasing survival of medically fragile children with complicated chronic medical conditions resulting in prolonged a...

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Performance validation of an amplicon-based targeted next-generation sequencing assay and mutation profiling of 648 Chinese colorectal cancer patients

Abstract

Next-generation sequencing (NGS) has become a promising approach for tumor somatic mutation detection. However, stringent validation is required for its application on clinical specimens, especially for low-quality formalin-fixed paraffin-embedded (FFPE) tissues. Here, we validated the performance of an amplicon-based targeted NGS assay, OncoAim™ DNA panel, on both commercial reference FFPE samples and clinical FFPE samples of Chinese colorectal cancer (CRC) patients. Then we profiled the mutation spectrum of 648 Chinese CRC patients in a multicenter study to explore its clinical utility. This NGS assay achieved 100% test specificity and 95–100% test sensitivity for variants with mutant allele frequency (MAF) ≥ 5% when median read depth ≥ 500×. The orthogonal methods including amplification refractory mutation system (ARMS)-PCR and Sanger sequencing validated that NGS generated three false negatives (FNs) but no false positives (FPs) among 516 clinical samples for KRAS aberration detection. Genomic profiling of Chinese CRC patients with this assay revealed that 63.3% of the tumors harbored clinically actionable alterations. Besides the commonly mutated genes including TP53 (52.82%), KRAS (46.68%), APC (24.09%), PIK3CA (18.94%), SMAD4 (9.47%), BRAF (6.15%), FBXW7 (5.32%), and NRAS (4.15%), other less frequently mutated genes were also identified. Statistically significant association of specific mutated genes with certain clinicopathological features was detected, e.g., both BRAF and PIK3CA were more prevalent in right-side CRC (p < 0.001 and p = 0.002, respectively). We concluded this targeted NGS assay is qualified for clinical practice, and our findings could help the diagnosis and prognosis of Chinese CRC patients.

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Detection of abnormally shaped ears by a trained non-specialist allows for early non-surgical intervention

Publication date: July 2018
Source:International Journal of Pediatric Otorhinolaryngology, Volume 110
Author(s): Daphne Y.D. Lu, Julie Pauwels, Lisa Jin, Frederick K. Kozak, Neil K. Chadha
IntroductionMany children are born with abnormally-shaped ears, including protruding ears or unusually-shaped outer ears. While the majority are benign, these may cause significant issues with self-esteem and bullying in childhood. Early molding can resolve some of these abnormalities, avoiding the need for future corrective surgery. However, newborns with these abnormalities are rarely identified early, within the first few days of life, when molding is most effective. In this study, we investigate whether a trained non-specialist can correctly identify ear shape abnormalities in newborns.MethodsA non-specialist (medical student) was trained on normal and abnormal ear anatomy using photographs and descriptions. Newborns <72 h of age were recruited from maternity wards. Newborns' ears were photographed and these images were assessed independently by two specialists and the non-specialist. External ear shape was classified as either normal or abnormal based on pre-determined criteria.ResultsA total of 661 ears of 334 newborns were photographed and assessed. High inter-rater agreement was achieved with a kappa statistic of 0.863 (SE 0.078). The non-specialist detected abnormally-shaped ears with a sensitivity and specificity of 90.9% and 91.1% respectively.ConclusionsOur study illustrates that non-specialist can be trained to accurately detect newborn ear abnormalities, providing a cost-effective means of ensuring that these children's health care needs are met in a timely fashion. Specifically, we recommend the integration of ear shape assessment into currently established programs such as the newborn hearing screening program.



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In this issue

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Dysphagia 27 years after cervical disc arthroplasty

Publication date: Available online 27 April 2018
Source:European Annals of Otorhinolaryngology, Head and Neck Diseases
Author(s): E. Lemaire, S. Ciftci, C. Debry
IntroductionDysphagia is a frequent postoperative symptom after anterior cervical disc arthroplasty. However, onset of dysphagia and neck pain a long time after surgery should suggest a diagnosis of prosthesis dislocation.Care reportA 65-year-old man with a history of cervical disc arthroplasty 27 years previously consulted for rapidly progressive dysphagia with no other associated symptoms. Physical examination and CT scan confirmed the diagnosis of anterior dislocation of the prosthesis with no signs of perforation. Surgical extraction via a neck incision allowed resolution of the symptoms.DiscussionProsthesis dislocation should be considered in a patient with a history of cervical disc arthroplasty presenting with dysphagia and neck pain. The clinical and radiological assessment confirmed the diagnosis and early surgical management allowed resolution of the symptoms and avoided complications such as pharyngo-oesophageal perforation.



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Semilunar conchal cartilage graft in saddle nose reconstruction

Publication date: Available online 27 April 2018
Source:European Annals of Otorhinolaryngology, Head and Neck Diseases
Author(s): I. Rašić, A. Košec, A. Pegan
IntroductionThe saddle nose deformity is easily recognized by the loss of septal support and nasal dorsal height with adverse functional and aesthetic consequences.TechniqueWe treated a 50-year-old woman and a 54-year old man that presented with a moderate saddle nose deformity following a previous septorhinoplasty (female patient) and a posttraumatic severe saddle nose deformity (male patient). The patients were treated by open approach rhinoplasty under general anesthesia, and the saddle nose deformity was reconstructed with a semilunar conchal cartilage graft. A semilunar part of the conchal cartilage is excised, lending its name to the graft. A smaller leaf shaped cartilage part is excised and sutured upside-down with PDS 5-0 sutures on the opposite of the cartilage, so that the concave surfaces are facing each other. The newly formed graft is then sutured in its place on the nasal dorsum in the supratip saddle area over the triangular cartilages to widen the inner nasal valve angle. The lateral tips of the semilunar graft are placed below the lateral alar crura to improve external nasal valve functionality.DiscussionThis modified conchal cartilage graft presents itself as an excellent reconstructive option, especially considering its low morbidity, availability and ability to retrieve an adequate amount of cartilage in the vast majority of patients. These modifications of the conchal cartilage are previously unreported, and provide the needed height and elasticity in saddle nose reconstruction without the need for additional grafting. It is important to stress that when positioned properly, a beneficial effect in peak nasal inspiratory flow may be observed, adding to its usefulness in repairing both function and aesthetics.



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Editorial Board

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