Phenotypic spectrum in a family with a novel p.I21S dominant-activating mutation.

Objectives: Dominant-activating (DA) lesions in have been reported in 18 individuals to date. Some have required haematopoietic stem cell transplantation (HSCT) for their (severe) combined immunodeficiency syndrome phenotype. We aimed to investigate clinical and cellular features of a kindred harbouring a novel variant in p.

Comprehensive analysis of SARS-CoV-2 antibody dynamics in New Zealand.

Objectives: Circulating antibodies are important markers of previous infection and immunity. Questions remain with respect to the durability and functionality of SARS-CoV-2 antibodies. This study explored antibody responses in recovered COVID-19 patients in a setting where the probability of re-exposure is effectively nil, owing to New Zealand's successful elimination strategy.

Hemoconcentration is associated with early faster fluid rate and increased risk of persistent organ failure in acute pancreatitis patients.

Background: Controversies existed surrounding the use of hematocrit to guide early fluid therapy in acute pancreatitis (AP). The association between hematocrit, early fluid therapy, and clinical outcomes in ward AP patients needs to be investigated.

Methods: Data from prospectively maintained AP database and retrospectively collected details of fluid therapy were analyzed.

Changes of plasma cGP/IGF-1 molar ratio with age is associated with cognitive status of Parkinson disease.

Objective: Cognitive impairment is a common feature of Parkinson disease (PD), for which age is a major contributing factor. Insulin-like growth factor-1 (IGF-1) declines with age and contributes to age-related cognitive impairment in PD. Cyclic glycine-proline (cGP) is a metabolite of IGF-1 and normalizes bioavailable IGF-1.

Genotypic and phenotypic analyses reveal distinct population structures and ecotypes for sugar beet-associated in Oxford and Auckland.

Fluorescent pseudomonads represent one of the largest groups of bacteria inhabiting the surfaces of plants, but their genetic composition is poorly understood. Here, we examined the population structure and diversity of fluorescent pseudomonads isolated from sugar beet grown at two geographic locations (Oxford, United Kingdom and Auckland, New Zealand). To seek evidence for niche adaptation, bacteria were sampled from three types of leaves (immature, mature, and senescent) and then characterized using a combination of genotypic and phenotypic analysis.

Imaging the breastfeeding swallow: Pilot study utilizing real-time MRI.

Objective: Knowledge of the breastfeeding swallow is limited by practical challenges. Radiation exposure to both mother and infant and the radiolucent properties of breastmilk make videofluoroscopy an unsuitable imaging modality. Furthermore, ultrasound is not ideal for capturing the complex 3-dimensional functional anatomy of swallowing.

A Novel Disorder of Osteoporosis, Osteonecrosis, and Metaphyseal Fracture.

We describe two unrelated women who in their fifth decade developed a severe disorder characterized by large joint osteonecrosis and multiple minimal trauma fractures in both the axial and appendicular skeleton, including unusual metaphyseal fractures of the proximal tibia. Bone density testing showed borderline osteoporosis of the spine and osteopenia of the femur. Therapy with bisphosphonates and teriparatide failed to prevent further fractures.

Acute shortness of breath due to reoccurrence of an intrapericardial bronchogenic cyst.

A 71-year-old woman presented with dysphagia and acute shortness of breath. Surgical history included a prior thoracotomy overseas for a bronchogenic mesothelial cyst 19 years before. Computed tomography demonstrated a mass within the posterior mediastinum measuring 69 × 70 × 74 mm.

Plasma cyclic glycine proline/IGF-1 ratio predicts clinical outcome and recovery in stroke patients.

Objective: Many stroke patients make a partial recovery in function during the first 3 months, partially through promoting insulin-like growth factor-1 (IGF-1) function. A prognostic biomarker that associates with IGF-1 function may predict clinical outcome and recovery of stroke. This study evaluated plasma concentrations of IGF-1, IGF binding protein (IGFBP)-3 and cyclic-glycine-proline (cGP) and their associations with clinical outcome in stroke patients.