Obesity and diabetes in people of African ancestry with HIV.

Obesity is a chronic disease with multiple adverse effects on health. The prevalence of obesity is increasing worldwide, and people of African ancestry are disproportionally affected. Several widely used antiretrovirals have been associated with weight gain and contribute to the rising burden of obesity in people with HIV. Obesity and weight gain on antiretroviral therapy are risk factors for the development of type 2 diabetes mellitus, a condition which also disproportionally affects black populations. In this review, we discuss recent data on weight gain in relation to initiating or switching antiretroviral therapy and advances in the management of obesity. Availability of highly effective treatments for obesity have the potential to address, and potentially reverse, the epidemics of obesity and diabetes mellitus in people with HIV.

Symptomatic Erythrocytosis Due to Homozygosity for Hb Luton [HBA2: c.269A>T (or HBA1)] and α-Thalassemia: A Clinical Update.

A female proband homozygous for both Hb Luton [α89(FG1)His→Leu (CAC>CTC), HBA2: c.269A>T (or HBA1)], a high oxygen affinity hemoglobin (Hb), and for α(+)-thalassemia (α-thal), (-α(4.2), leftward deletion) was first described in 2012. This is a follow-up report of the same case. At the age of 18, the described patient presented with progressively worsening lethargy, headaches, dizziness, syncope and Raynaud's phenomenon. Following extensive cardiological and neurological investigation, it was felt that significant erythrocytosis was the most likely cause. Venesection followed by regular exchange transfusions were arranged with marked amelioration in symptomatology. In the vast majority of cases of high oxygen affinity Hbs, venesection is not recommended due to the asymptomatic phenotype and reduced oxygen delivery resulting from venesection. This update describes the evolving phenotype of this unique proband and, to the best of our knowledge, the first use of regular, long-term therapeutic red cell exchange transfusions in a case of high affinity Hb.

HbA1c screening for diabetes mellitus and to evaluate diabetic control in people of African ancestry with HIV in South London.

We evaluated glycaemic status in 948 Black adults with HIV and report a high prevalence of dysglycaemia (37.2%). HbA1c testing identified 38 (4.0%) individuals not previously known to have diabetes mellitus (DM) and showed suboptimal or poor glycaemic control in more than half of those with a prior DM diagnosis despite high levels of HIV control.

Can Waterlow score predict 30-day mortality and length of stay in acutely admitted medical patients (aged ≥65 years)? Evidence from a single centre prospective cohort study.

OBJECTIVE: This study aimed to explore the potential for the Waterlow score (WS) to be used as a predictor of 30-day mortality and length of hospital stay (LHS) in acutely admitted medical patients aged 65 years and older. DESIGN: Prospective observational cohort study. SETTING: UK District General Hospital. SUBJECTS: 834 consecutive patients aged 65 years and older admitted acutely to medical specialties between 30 May and 22 July 2014. METHODS: Admission WS (range 4-64) assessment paired with the patient's status at 30 days in terms of mortality and their LHS. PRIMARY OUTCOMES: 30-day mortality and length of inpatient stay. RESULTS: 834 consecutive acute medical admissions had their WS recorded. 30-day mortality was 13.1% (109 deaths). A significant difference in the distribution of WS (p<0.001) was seen between those who survived (median 12) and those who died (median 16) within 30 days, particularly within respiratory (p<0.001), stroke (p<0.001), cardiology (p<0.016), non-respiratory infections (p<0.018) and trauma (p<0.044) subgroups. Odds of dying within 30 days increased threefold for every 10-unit increase in the WS (p<0.001, 95% CI 2.1 to 4.3). LHS was also positively linearly associated with the WS in those who survived 30 days (median=5, IQR=10; r=0.32, p<0.01). A five-unit increase in WS was associated with approximately 5 days increase in LHS. On the other hand, quadratic regression showed this relationship was curvilinear and negative (concave) for those who died within 30 days where a five-unit increase in WS was associated with an approximately 10 days decrease in LHS. CONCLUSION: This study demonstrates an association between a high WS and both 30-day mortality and LHS. This is particularly significant for mortality in patients in the respiratory, stroke and cardiac subcategories. The WS, a nursing-led screening tool that is carried out on virtually all admissions to UK hospitals, could have additional use at the time of patient admission as a risk assessment tool for 30-day mortality as well as a predictor of LHS.

The Impact of Radiological Response to Peptide Receptor Radionuclide Therapy on Overall Survival in Patients With Metastatic Midgut Neuroendocrine Tumors.

PURPOSE OF THE REPORT: Peptide receptor radionuclide therapy (PRRT) is an effective treatment for advanced neuroendocrine tumors (NET); however, long-term survival data are scarce. The aim of this study is to determine long-term survival in patients with metastatic midgut NET, according to response to PRRT. PATIENTS AND METHODS: One hundred thirty-three consecutive patients with progressive metastatic midgut NET underwent PRRT. Response at 1 year post PRRT was classified as partial response, stable disease, disease progression, or death. Survival was assessed according to response to PRRT, and predictors of overall survival (OS) and progression-free survival (PFS) were identified. RESULTS: At 1 year post PRRT, 9% had partial response, 50.4% stable disease, 10.5% disease progression, and 30.1% were dead. The OS was 33.5, and PFS was 28.5 months. Predictors of disease progression/death were chromogranin A greater than 10 ULN (OR, 4.6; P = 0.007) and hepatic tumor load greater than 50% (OR, 5; P = 0.004). There was no difference in OS between patients with partial response and those with stable disease post PRRT. In multivariate Cox regression, predictors of OS were number of PRRT cycles (HR, 0.33; P < 0.0005), hepatic tumor load greater than 50% (HR, 3.46; P = 0.01), and outcome at 1 year post PRRT (HR, 21.37; P < 0.0005). Predictors of PFS were number of PRRT cycles (HR, 0.39; P < 0.0005), previous resection of liver metastases (HR, 3.56; P = 0,023), and hepatic tumor load greater than 50% (HR, 3.06; P < 0.0005). CONCLUSIONS: Patients with progressive metastatic midgut NET who achieved stable disease at 1 year post PRRT had similar OS with those with partial response. Hepatic tumor burden was a strong predictor of response to PRRT, PFS, and OS.

Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene.

The hyperparathyroidism-jaw tumor (HPT-JT) syndrome is an autosomal dominant disorder characterized by the occurrence of parathyroid tumors and ossifying jaw fibromas. The gene causing HPT-JT, HRPT2, is located on chromosome 1q31.2 and consists of 17 exons that encode a 531-amino acid protein, designated parafibromin. We recently identified six Roma families in Portugal with 56 members (11 affected and 45 asymptomatic), who had the HPT-JT syndrome. We postulated that they may have a common ancestor and that the HPT-JT syndrome may be due to a mutation of the HRPT2 gene. Haplotype analysis using 14 chromosome 1q24-q32 polymorphic markers showed that the 11 affected individuals shared a common haplotype defined by seven markers that spanned an approximately 12.5-cM region, flanked centromerically by D1S202 and telomerically by D1S306. DNA sequence analysis identified a 2-bp (TG or GT) frameshift deletion in exon 8, which predicts a truncated parafibromin protein, in all 11 affected individuals. This mutation was also found in 19 unaffected individuals (age range, 12-74 yr) who shared the affected haplotype, suggesting a low age-related penetrance for HPT-JT in these families. Thus, the HPT-JT syndrome in six Roma families from Portugal is due to a novel founder mutation in the HRPT2 gene.