Citations

Abstract Phosphomannomutase 2 (PMM2‐CDG) is the most common congenital disorder of N‐glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2‐CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor neurological involvement. Management of affected patients requires a multidisciplinary approach. In this article, a systematic review of the literature on PMM2‐CDG was conducted by a group of international experts in different aspects of CDG. Our managment guidelines were initiated based on the available evidence‐based data and experts' opinions. This guideline mainly addresses the clinical evaluation of each system/organ involved in PMM2‐CDG, and the recommended management approach. It is the first systematic review of current practices in PMM2‐CDG and the first guidelines aiming at establishing a practical approach to the recognition, diagnosis and management of PMM2‐CDG patients.

Selective internal radiation therapy with 90Y-TheraSphere or 90Y-SIRSphere is used in the treatment of unresectable hepatic malignancies. To the best of our knowledge, this is the first 90Y-TheraSpheres series. BTG International Canada Inc. provided nonradiated microspheres from the Nordion manufacturer. The histologic processed microspheres were colorless, refractile, polarizable, 20 to 30 μm in diameter, and an occasional internal bulls’-eye seen with the condenser out and an internal cross seen with polarized light. Identical microspheres were identified in 15 hepatectomy specimens from four centers between February 2016 and March 2018. The patients were usually male (male=10, female=5) with a mean age of 59 years. All patients had a prior diagnosis of hepatocellular carcinoma (HCC) and documented 90Y-TheraSphere (mean duration from last deployment=32 wk). All surgical pathology specimens in these 15 patients were reviewed, but the microspheres were only identified in the hepatectomy specimens. During manuscript preparation, one case of 90Y-TheraSpheres gastritis was prospectively identified from a separate patient with a history of HCC and 90Y-TheraSpheres. In conclusion, recognition of 90Y-TheraSpheres is important so that one may consider the possibility of a nearby malignancy and or establish the cause of the background inflammatory or radiation-related injury. These structures can be easy to miss because the subtle morphology is distinct from previously reported 90Y-SIRSphere. Clues to the diagnosis include a history of HCC and background radiation change. We report the characteristic morphology as microspheres that overlap in size with 90Y-SIRSphere, but can be differentiated based on 90Y-TheraSpheres’ colorless appearance with occasional internal bulls’-eyes with the condenser out and an internal cross with polarized light.

AimsInverted appendices are rare, but have the potential to cause diagnostic confusion among endoscopists and pathologists. The aim of this study was to describe the clinicopathological features of inverted appendices seen at our institution over the last 30 years.Methods and resultsTwenty‐one inverted appendices were identified and the clinical and pathological features reviewed. Patients were predominantly middle‐aged women. Most cases were detected incidentally on colonoscopy. Endoscopically, inverted appendices appeared polypoid in the proximal caecum. All resections featured associated pathological processes, including endometriosis (n = 3), inflammatory mucocoele (n = 1), low‐grade appendiceal mucinous neoplasm (n = 2), traditional serrated adenoma (n = 1) and inflammatory fibroid polyp (n = 1). Five cases were endoscopically mischaracterised as caecal polyps and removed via polypectomy; initial pathological impressions were erroneous in most cases. All polypectomies featured a dome‐like configuration covered by mucosa on the convex surface; the majority had aggregates of ganglion cells and neural plexi embedded in muscularis propria. The vast majority of cases, regardless of the procedure, showed lymphoid aggregates. Among post‐polypectomy patients with follow‐up, none experienced perforation‐associated morbidity despite the histological presence of muscularis propria.ConclusionsThe diagnosis of an inverted appendix should be considered in polypectomy specimens from the caecum or appendiceal orifice with (i) dome‐like tissue configuration covered by mucosa on the convex surface, (ii) a deep, robust smooth muscle component with ganglion cells (muscularis propria) and (iii) associated lymphoid aggregates. Prompt recognition on H&E will avoid unnecessary time and resource investment.

Exercise capacity (EC) is a critical outcome in chronic obstructive lung disease (chronic obstructive pulmonary disease (COPD)). It measures the impact of the disease and the effect of specific interventions like pulmonary rehabilitation (PR). EC determines COPD prognosis and is associated with health-care utilization and quality of life. Field walking tests and cardiopulmonary exercise test (CPET) are two ways to measure EC. The 6-minute walking test (6MWT) is the commonest and easiest field test. CPET has the advantage of assessing maximal aerobic capacity. Determinants of EC include age, gender, breathlessness, and lung function. Previous research suggests that socioeconomic status (SES), a meaningful factor in COPD, may also be associated with EC. However, those findings have not been replicated. We aimed to determine whether SES is an independent factor associated with EC in COPD. For this analysis, we used the National Emphysema Treatment Trial (NETT) database. NETT was a multicenter clinical trial where severe COPD patients were randomized to lung volume reduction surgery or medical therapy. Measures used were taken at baseline, postrehabilitation. Patients self-reported their income and were divided in two groups whether it was less or above US$30,000. Patients with a lower income had worse results in 6MWT ( p < 0.0001). We found an independent association between income and the 6MWT in patients with severe COPD after adjusting for age, gender, lung function, dyspnea, and living conditions ( p < 0.0007). One previous publication stated the relationship between income and EC. Our research confirms and extends previous publications associating EC with income by studying a large and well characterized cohort of severe COPD patients, also addressing EC by two different methods (maximal watts and 6MWT). Our results highlight the importance of addressing social determinants of health such as income when assessing COPD patients.

Objective: To derive new criteria sets for defining manic and hypomanic episodes (and thus for defining the bipolar I and II disorders), an international Task Force was assembled and termed AREDOC reflecting its role of Assessment, Revision and Evaluation of DSM and other Operational Criteria. This paper reports on the first phase of its deliberations and interim criteria recommendations. Method: The first stage of the process consisted of reviewing Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, and recent International Classification of Diseases criteria, identifying their limitations and generating modified criteria sets for further in-depth consideration. Task Force members responded to recommendations for modifying criteria and from these the most problematic issues were identified. Results: Principal issues focussed on by Task Force members were how best to differentiate mania and hypomania, how to judge ‘impairment’ (both in and of itself and allowing that functioning may sometimes improve during hypomanic episodes) and concern that rejecting some criteria (e.g. an imposed duration period) might risk false-positive diagnoses of the bipolar disorders. Conclusion: This first-stage report summarises the clinical opinions of international experts in the diagnosis and management of the bipolar disorders, allowing readers to contemplate diagnostic parameters that may influence their clinical decisions. The findings meaningfully inform subsequent Task Force stages (involving a further commentary stage followed by an empirical study) that are expected to generate improved symptom criteria for diagnosing the bipolar I and II disorders with greater precision and to clarify whether they differ dimensionally or categorically.