Evaluating computed bony range of motion (BROM) by registering in-vitro cadaver-based functional range of motion (FROM) to a hip motion simulation.

BACKGROUND: While modern hip replacement planning relies on hip motion simulation (HMS), it lacks the capability to include soft-tissues and ligaments restraints on computed bony range of motion (BROM), often leading to an overestimation of the in-vivo functional range of motion (FROM). Furthermore, there is a lack of literature on BROM assessment in relation to FROM. Therefore, the study aimed to assess computed BROM using in-vitro cadaver-derived FROM measurements, registered to a CT-based in-house HMS, and to further investigate the effect of functional and anatomical hip joint centres (FHJC and AHJC) on BROM. METHOD: Seven limiting and three non-limiting circumducted passive FROM of four cadaver hips were measured using optical coordinate measuring machine with reference spheres (RSs) affixed to the pelvis and the femur, following CT-scan of the specimen. The RSs' centres were used to register the measured FROM in HMS, enabling its virtual recreation to compute corresponding BROM by detecting nearest bony impingement. FHJC, estimated from non-limiting FROM, was compared with AHJC to examine their positional differences and effect on BROM. RESULTS: Differences in BROM and FROM were minimal in deep flexion (3.0° ± 4.1°) and maximum internal rotation (IR) at deep flexion (3.0° ± 2.9°), but substantially greater in extension (53.2° ± 9.5°). Bony impingement was observed during flexion, and IR at deep flexion for two hips. The average positional difference between FHJC and AHJC was 3.1 ± 1.2 mm, resulting in BROM differences of 1°-13° across four motions. CONCLUSIONS: The study provided greater insight into the applicability and reliability of computed BROM in pre-surgical planning.

Association of Clinical Characteristics With Familial Hypercholesterolaemia Variants in a Lipid Clinic Setting: A Case-Control Study.

Objective: Familial hypercholesterolaemia (FH) variant positive subjects have over double the cardiovascular risk of low-density-lipoprotein-cholesterol (LDL-C) matched controls. It is desirable to optimise FH variant detection. Methods: We identified 213 subjects with FH gene panel reports (LDLR, APOB, PCSK9, and APOE) based on total cholesterol >310 mg/dL; excluding triglycerides >400 mg/dL, cascade screening, and patients without pre-treatment LDL-C recorded. Demographic, clinical and lipid parameters were recorded. Results: A 31/213 (14.6%) patients had pathogenic or likely pathogenic FH variants. 10/213 (4.7%) had variants of uncertain significance. Compared with patients without FH variants, patients with FH variants were younger (median age, 39 years vs. 48 years), had more tendon xanthomata (25.0% vs. 11.4%), greater proportion of first degree relatives with total cholesterol >95th percentile (40.6% vs. 16.5%), higher LDL-C (median, 271 mg/dL vs. 236 mg/dL), and lower triglycerides (median, 115 mg/dL vs. 159 mg/dL). The Besseling et al. model (c-statistic 0.798) improved FH variant discrimination over Friedewald LDL-C (c-statistic 0.724), however, Dutch Lipid Clinic Network Score (DLCNS) did not (c-statistic 0.665). Sampson LDL-C (c-statistic 0.734) had similar discrimination to Friedewald. Conclusion: Although tendon xanthomata and first degree relatives with high total cholesterol >95th percentile were associated with FH variants, DLCNS or Simon Broome criteria did not improve FH detection over LDL-C. Sampson LDL-C did not significantly improve discrimination over Friedewald. Although lower triglycerides and younger age of presentation are positively associated with presence of FH variants, this information is not commonly used in FH detection algorithms apart from Besseling et al.

Stakeholder-driven transformative adaptation is needed for climate-smart nutrition security in sub-Saharan Africa.

Improving nutrition security in sub-Saharan Africa under increasing climate risks and population growth requires a strong and contextualized evidence base. Yet, to date, few studies have assessed climate-smart agriculture and nutrition security simultaneously. Here we use an integrated assessment framework (iFEED) to explore stakeholder-driven scenarios of food system transformation towards climate-smart nutrition security in Malawi, South Africa, Tanzania and Zambia. iFEED translates climate-food-emissions modelling into policy-relevant information using model output implication statements. Results show that diversifying agricultural production towards more micronutrient-rich foods is necessary to achieve an adequate population-level nutrient supply by mid-century. Agricultural areas must expand unless unprecedented rapid yield improvements are achieved. While these transformations are challenging to accomplish and often associated with increased greenhouse gas emissions, the alternative for a nutrition-secure future is to rely increasingly on imports, which would outsource emissions and be economically and politically challenging given the large import increases required.

Albinism and Hermansky-Pudlak syndrome in Puerto Rico

Five types of oculocutaneous albinism and two types of ocular albinism were found among 349 Puerto Rican albinos. The most prevalent type of albinism was the Hermansky-Pudlak syndrome (HPS). HPS was observed in five of every six albinos in Puerto Rico. The prevalence of HPS was highest in the northwestern quarter of the island, affecting approximately one in 1,800 persons, and approximately one in 22 are carriers of the gene. HPS is an autosomal recessively inherited triad of a tyrosinase-positive type of albinism, a hemorrhagic diathesis due to storage pool deficient platelets and accumulation of ceroid in tissues. The pigmentary phenotype of HPS albinos resembled that of any other type of oculocutaneous or ocular albinism. The most reliable method of diagnosing HPS is by a deficiency of platelet dense bodies observed by electron microscopy. The accumulation of ceroid in the tissues is associated with fibrotic restrictive lung disease and granulomatous enteropathic disease. The enteropathic disorder resembles Crohn's disease and with few exceptions, had its onset after 13 years of age. The major causes of death were fibrotic restrictive pulmonary disease, hemorrhagic episodes and sequelae of granulomatous enteropathic disease. Menometrorrhagia was common in women with HPS. No immune deficiency was found in HPS patients. The majority of patients with HPS had visal acuities of 20/200 or worse and consequently were legally blind. Albinos of all types, including HPS, lacked binocular...