Female ; Humans ; Mosaicism ; Pregnancy ; Prenatal Care ; Prenatal Diagnosis ; Trisomy/genetics*

Hospitals ; Humans

A 58-year-old man presented with knee pain and swelling, following a previous injury. A displaced bucket-handle tear of the medial meniscus was diagnosed on magnetic resonance (MR) imaging and subsequently confirmed by arthroscopy. MR imaging is accurate in diagnosing bucket-handle tears. The different MR imaging signs of bucket-handle tears include the double posterior cruciate ligament sign, displaced fragment in intercondylar notch sign, absent bow-tie sign, anterior flipped meniscus sign and coronal truncation sign. Specificity is increased when a combination of the different imaging signs is present. Understanding the meniscal anatomy and potential mimics of the bucket-handle tear is important in order to ensure an accurate diagnosis and appropriate management.
Humans ; Knee Injuries ; diagnosis ; Knee Joint ; pathology ; Magnetic Resonance Imaging ; Male ; Menisci, Tibial ; pathology ; Middle Aged ; Tibial Meniscus Injuries

Lower gastrointestinal haemorrhage due to enteric fever is uncommon and potentially fatal. The majority of patients recover with conservative treatment, with surgery reserved for life-threatening bleeding. Given the advances in radiologically guided procedures, there have been numerous reports of successful embolisation for gastrointestinal haemorrhage, although few of these involved enteric fever as the causative agent. We report an uncommon case of haemorrhagic enteric fever treated successfully with embolisation using polyvinyl alcohol particles and coils.
Adult ; Angiography ; Embolization, Therapeutic ; instrumentation ; methods ; Female ; Gastrointestinal Hemorrhage ; therapy ; Humans ; Polyvinyl Alcohol ; chemistry ; Tomography, X-Ray Computed ; Treatment Outcome ; Typhoid Fever ; therapy

The anterior cruciate ligament (ACL) is an important stabiliser of the knee and is commonly torn in sports injuries. Common indications for imaging after ACL reconstruction include persistent symptoms, limitation of motion and re-injury. Important postoperative complications include graft failure, impingement, arthrofibrosis and graft degeneration. This article aimed to familiarise the radiologist with magnetic resonance (MR) imaging appearances of properly positioned intact ACL grafts and to provide a comprehensive review of MR imaging features of complications following ACL reconstruction.
Anterior Cruciate Ligament ; diagnostic imaging ; surgery ; Anterior Cruciate Ligament Reconstruction ; adverse effects ; methods ; Humans ; Knee Joint ; diagnostic imaging ; surgery ; Magnetic Resonance Imaging ; Postoperative Complications ; diagnostic imaging ; Transplants ; diagnostic imaging ; Wound Healing

No abstract available.
Chorea ; Creutzfeldt-Jakob Syndrome

Lysosomal dysfunction plays an important role in neurodegenerative diseases, including Parkinson’s disease (PD) and possibly Parkinson-plus syndromes such as progressive supranuclear palsy (PSP). This role is exemplified by the involvement of variants in the GBA1 gene, which results in a deficiency of the lysosomal enzyme glucocerebrosidase and is the most frequently identified genetic factor underlying PD worldwide. Pathogenic variants in the SMPD1 gene are a recessive cause of Niemann–Pick disease types A and B. Here, we provide the first report on an association between a loss-of-function variant in the SMPD1 gene present in a heterozygous state (p.Pro332Arg/p.P332R, which is known to result in reduced lysosomal acid sphingomyelinase activity), with PSP-Richardson syndrome in three unrelated patients of Chinese ancestry.

Objective: Converging evidence suggests that intestinal inflammation is involved in the pathogenesis of neurodegenerative diseases. Previous studies on fecal calprotectin in Parkinson’s disease (PD) were limited by small sample sizes, and literature regarding intestinal inflammation in multiple system atrophy (MSA) is very scarce. We investigated the levels of fecal calprotectin, a marker of intestinal inflammation, in PD and MSA. Methods: We recruited 169 subjects (71 PD, 38 MSA, and 60 age-similar nonneurological controls). Clinico-demographic data were collected. PD and MSA were subtyped and the severity assessed using the MDS-UPDRS and UMSARS, respectively. Fecal calprotectin and blood immune markers were analyzed. Results: Compared to controls (median: 35.7 [IQR: 114.2] μg/g), fecal calprotectin was significantly elevated in PD (median: 95.6 [IQR: 162.1] μg/g, p = 0.003) and even higher in MSA (median: 129.5 [IQR: 373.8] μg/g, p = 0.002). A significant interaction effect with age was observed; between-group differences were significant only in older subjects (i.e., ≥ 61 years) and became more apparent with increasing age. A total of 28.9% of MSA and 18.3% of PD patients had highly abnormal fecal calprotectin levels (≥ 250 μg/g); however, this difference was only significant for MSA compared to controls. Fecal calprotectin correlated moderately with selected blood immune markers in PD, but not with clinical features of PD or MSA. Conclusions Elevated fecal calprotectin suggests a role for intestinal inflammation in PD and MSA. A more complete understanding of gut immune alterations could open up new avenues of research and treatment for these debilitating diseases.

The Asia-Pacific Working Group on inflammatory bowel disease (IBD) was established in Cebu, Philippines, under the auspices of the Asian Pacific Association of Gastroenterology with the goal of improving IBD care in Asia. This consensus is carried out in collaboration with Asian Organization for Crohn's and Colitis. With biologic agents and biosimilars becoming more established, it is necessary to conduct a review on existing literature and establish a consensus on when and how to introduce biologic agents and biosimilars in the conjunction with conventional treatments for ulcerative colitis (UC) and Crohn's disease (CD) in Asia. These statements also address how pharmacogenetics influence the treatments of UC and CD and provide guidance on response monitoring and strategies to restore loss of response. Finally, the review includes statements on how to manage treatment alongside possible hepatitis B and tuberculosis infections, both common in Asia. These statements have been prepared and voted upon by members of IBD workgroup employing the modified Delphi process. These statements do not intend to be all-encompassing and future revisions are likely as new data continue to emerge.
Adalimumab ; Asia ; Asian Continental Ancestry Group ; Biological Factors ; Biosimilar Pharmaceuticals ; Colitis ; Colitis, Ulcerative ; Consensus ; Cooperative Behavior ; Crohn Disease ; Gastroenterology ; Hepatitis B ; Humans ; Immunologic Factors ; Inflammatory Bowel Diseases ; Infliximab ; Pharmacogenetics ; Philippines ; Practice Guidelines as Topic ; Tuberculosis ; Ulcer

INTRODUCTION: Risk stratification in dilated cardiomyopathy (DCM) is imprecise, relying largely on echocardiographic left ventricular ejection fraction (LVEF) and severity of heart failure symptoms. Adverse cardiovascular events are increased by the presence of myocardial scarring. Late gadolinium enhancement (LGE) on cardiovascular magnetic resonance (CMR) imaging is the gold standard for identifying myocardial scars. We examined the association between LGE on CMR imaging and adverse clinical outcomes during long-term follow-up of Asian patients with DCM. METHODS: Consecutive patients with DCM undergoing CMR imaging at a single Asian academic medical centre between 2005 and 2015 were recruited. Clinical outcomes were tracked using comprehensive electronic medical records and mortality was determined by cross-linkages with national registries. Presence and distribution of LGE on CMR imaging were determined by investigators blinded to patient outcomes. Primary endpoint was a composite of heart failure hospitalisations, appropriate implantable cardioverter-defibrillator shocks and cardiovascular mortality. RESULTS: Of 86 patients, 64.0% had LGE (80.2% male; mean LVEF 30.1% ± 12.7%). Mid-wall fibrosis (71.7%) was the most common pattern of LGE distribution. Over a mean follow-up period of 4.9 ± 3.2 years, 19 (34.5%) patients with LGE reached the composite endpoint compared to 4 (12.9%) patients without LGE (p = 0.01). Presence of LGE, but not echocardiographic LVEF, independently predicted the primary endpoint (hazard ratio 4.15 [95% confidence interval 1.28-13.50]; p = 0.02). CONCLUSION LGE presence independently predicted adverse clinical events in Asian patients with DCM. Routine use of CMR imaging to characterise the myocardial substrate is recommended for enhanced risk stratification and should strongly influence clinical management.