POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.

Protein O-glucosyltransferase 1 (POGLUT1) activity is critical for the Notch signaling pathway, being one of the main enzymes responsible for the glycosylation of the extracellular domain of Notch receptors. A biallelic mutation in the POGLUT1 gene has been reported in one family as the cause of an adult-onset limb-girdle muscular dystrophy (LGMD R21; OMIM# 617232). As the result of a collaborative international effort, we have identified the first cohort of 15 patients with LGMD R21, from nine unrelated families coming from different countries, providing a reliable phenotype-genotype and mechanistic insight. Patients carrying novel mutations in POGLUT1 all displayed a clinical picture of limb-girdle muscle weakness. However, the age at onset was broadened from adult to congenital and infantile onset. Moreover, we now report that the unique muscle imaging pattern of "inside-to-outside" fatty degeneration observed in the original cases is indeed a defining feature of POGLUT1 muscular dystrophy. Experiments on muscle biopsies from patients revealed a remarkable and consistent decrease in the level of the NOTCH1 intracellular domain, reduction of the pool of satellite cells (SC), and evidence of α-dystroglycan hypoglycosylation. In vitro biochemical and cell-based assays suggested a pathogenic role of the novel POGLUT1 mutations, leading to reduced enzymatic activity and/or protein stability. The association between the POGLUT1 variants and the muscular phenotype was established by in vivo experiments analyzing the indirect flight muscle development in transgenic Drosophila, showing that the human POGLUT1 mutations reduced its myogenic activity. In line with the well-known role of the Notch pathway in the homeostasis of SC and muscle regeneration, SC-derived myoblasts from patients' muscle samples showed decreased proliferation and facilitated differentiation. Together, these observations suggest that alterations in SC biology caused by reduced Notch1 signaling result in muscular dystrophy in LGMD R21 patients, likely with additional contribution from α-dystroglycan hypoglycosylation. This study settles the muscular clinical phenotype linked to POGLUT1 mutations and establishes the pathogenic mechanism underlying this muscle disorder. The description of a specific imaging pattern of fatty degeneration and muscle pathology with a decrease of α-dystroglycan glycosylation provides excellent tools which will help diagnose and follow up LGMD R21 patients.

Endothelial markers in high altitude induced systemic hypertension (HASH) at moderate high altitude.

BACKGROUND: Chronic intermittent hypoxia is known to induce systemic arterial hypertension whereas chronic hypoxia causes pulmonary arterial hypertension. High altitude (HA) induced systemic hypertension (HASH) in previously normotensive lowlanders following acclimatisation and prolonged stay at moderate HA is a commonly encountered medical problem. HASH has been attributed to increased sympathetic discharge. Endothelial dysfunction (ED) is implicated in hypertension in the plains hence this study was conducted in HA. This is relevant especially because of the established role of ED in the aetiopathogenesis of HA illnesses. Since hypoxia may induce ED, we aimed at studying the association of endothelial dysfunction with HASH in temporary residents at HA. METHODS: In this case-control single-centre study, we evaluated ED, by measuring endothelial molecular markers, soluble intercellular adhesion molecule-1 (sICAM-1), vascular cell adhesion molecule-1 (VCAM-1), vascular endothelial growth factor (VEGF) and endothelial selectin (E-Selectin) in 24 cases with HASH and 25 age, sex matched normotensive controls at moderate high altitude (11,500 ft). RESULTS: The levels of sICAM-1 (patients: 214.3 ± 34.2 µg/L, controls: 196.2 ± 28.5 µg/L; p = 0.049) and VCAM-1 (patients 766.1 ± 123.4 ng/mL, controls: 668.6 + 117.6 ng/mL; p = 0.007) were statistically higher in the patient group. However, VEGF and E-Selectin were not significantly different between the groups. sICAM-1 significantly correlated with levels of systolic and diastolic blood pressure (r = 0.401, p = 0.003 and 0.486, p = 0.000) respectively. CONCLUSION: HASH is associated with endothelial dysfunction in form of raised levels of sICAM-1 and VCAM-1.

Mung bean: technological and nutritional potential.

Mung bean (Vigna radiata (L.) R. Wilczek) has been intensively researched; scattered data are available on various properties. Data on physical, chemical, food processing, and nutritional properties were collected for whole mung bean grains and reviewed to assess the crop's potential as food and to set research priorities. Results show that mung bean is a rich source of protein (14.6-33.0 g/100 g) and iron (5.9-7.6 mg/100 g). Grain color is correlated with compounds like polyphenols and carotenoids, while grain hardness is associated with fiber content. Physical properties like grain dimensions, sphericity, porosity, bulk, and true density are related to moisture content. Anti-nutrients are phytic acid, tannins, hemagglutinins, and polyphenols. Reported nutrient contents vary greatly, the causes of which are not well understood. Grain size and color have been associated with different regions and were used by plant breeders for selection purposes. Analytical methods require more accuracy and precision to distinguish biological variation from analytical variation. Research on nutrient digestibility, food processing properties, and bioavailability is needed. Furthermore, the effects of storage and processing on nutrients and food processing properties are required to enable optimization of processing steps, for better mung bean food quality and process efficiency.

Pattern of chilblains in a high altitude region of Ladakh, India.

BACKGROUND: Extreme sub-zero temperature in winters (15 °C to -25 °C), high velocity winds and wind-chill factor pose risk to those who resides at the high altitude environment to develop cold related injuries like chilblains and frostbite. The aim of this study was to study the patterns of chilblains in high altitude region like Ladakh. METHODS: The study was conducted at Dermatology outpatient department of Military Hospital, Leh from 1 Sep 2009 to 31 May 2010. Patients, satisfying clinical criteria for the diagnosis of chilblains were included into the study. Detailed history and thorough clinical examination was conducted. Complete blood count and Urine routine examination was carried out in every patient. Anti Nuclear Factor tests were carried out in only those who had history suggestive of connective tissue disease. RESULTS: Total 108 (5.75%) were diagnosed to have chilblains. Only a single case of chilblain was found in a local resident (p < 0.005). Family history of chilblains was present in 10 (9.2%) patients, there was recurrence in 12 (11.1%) and 21 patients (19.4%) were smokers. Most (63.8%) of the patients, had BMI between 20 and 22 kg/m(2) (mean = 20.03 kg/m(2); 95% CI = 19.68-20.38 and SD 1.82). 42.1% of cases of chilblains also had hyperhidrosis (p < 0.05). CONCLUSION: In a HA area like Ladakh, the non-natives suffer maximum from chilblains. This could be explained by the protective genetic adaptability of natives to extreme cold environment and their protective life style against cold. Low body mass index (BMI) and hyperhidrosis are important associations for development of chilblains.

Diagnostic accuracy of ¹8F-FDG PET/CT for detection of advanced colorectal adenoma.

AIM: To determine the accuracy of 2-[(18)F]-fluoro-2-deoxy-d-glucose (FDG) positron-emission tomography (PET) in the detection of advanced colorectal adenomas. MATERIALS AND METHODS: In this retrospective study, patient consent was waived by the institutional review board. Combined FDG whole-body PET and computed tomography (CT) images (2000-2009) were re-read and compared with reports of complete colonoscopy performed up to 1 year after the PET examination. One or more areas of focal colonic uptake greater than the background indicated a positive PET result, irrespective of standardized uptake value (SUV). Lesion and patient-level measures of PET accuracy with their 95% confidence intervals (CI) were calculated. RESULTS: One hundred and eighty patients undergoing colonoscopy with or without biopsy underwent PET within 1 year prior to colonoscopy. There were 92 women and 88 men (mean age 63.3 years). Indications for PET were extent of disease and treatment response in all cases. Patients had non-colorectal cancer (n = 160) or colon cancer (n = 20). One hundred and fourteen FDG-avid lesions were present. In 33, there was no colonoscopic correlate. Two hundred and fifty-eight biopsies revealed tubular adenomas (n = 91, one with intra-mucosal cancer), tubulovillous adenomas (n = 28), adenocarcinoma (n = 37), inflammation (n = 22), hyperplastic polyps (n = 54), serrated adenoma (n = 5), metastatic disease (n = 5), normal/benign mucosa or submucosal benign tumors (n = 13) or miscellaneous (n = 3). Per-lesion performance of PET showed a sensitivity of 38% (95% CI: 31-46; 64/167) for all adenomas and carcinomas and 58% (95% CI: 49-67; 57/98) for lesions ≥ 10 mm. At the patient level, for all adenomas and carcinomas the sensitivity was 54% (95% CI: 44-63; 61/113), specificity 100% (pre-defined), positive predictive value (PPV) 100% (pre-defined), and negative predictive value (NPV) 56% (95% CI: 47-65; 67/119). For patients with advanced adenoma, PET sensitivity was 49% (95% CI: 35-63; 26/53) specificity, 100%, PPV 100% and NPV 82% (95% CI: 76-88; 127/154). Five of 37 adenocarcinomas were not detected, one of which was mucinous at histology. CONCLUSION: FDG PET detected most cancers, but only identified one-half of patients harbouring advanced adenomas. Based on the data, PET cannot be relied upon to accurately identify patients with advanced adenoma.

Is concurrent prophylactic use of acetazolamide and dexamethasone superior to acetazolamide alone in un-acclimatized lowlanders on ascent to high altitude?

This pilot study was undertaken in lowlanders, during their ascent from 2600 m to 3500 m, to evaluate the effects of Acetazolamide and Dexamethasone on Cardio-Respiratory parameters and Exercise Capacity. 40 unacclimatised low-landers were divided into 2 groups. Subjects of Group 'A' were given Acetazolamide and Dexamethasone and those of Group 'B' were given Acetazolamide and placebo. 8 subjects matched for age, physical fitness, height and weight were randomly selected from each study group and were evaluated for their Exercise Capacities. Both study groups showed significant rise in Heart Rate, Respiratory Rate and a significant fall in Systolic Blood Pressure. There was no difference in Exercise capacities achieved by subjects of two groups at 3500 m.

A comparative study of efficacy of cultured versus non cultured melanocyte transfer in the management of stable vitiligo.

BACKGROUND: Replenishing melanocytes by autologous melanocytes selectively in vitiliginous macules is a novel and promising treatment. With expertise in culturing autologous melanocytes, it has now become possible to treat larger recipient areas with smaller skin samples. To determine the relative efficacy of cultured versus non cultured melanocyte transfer in the management of stable vitiligo. METHODS: The melanocytes were harvested as an autologous melanocyte rich cell suspension from a donor split thickness graft. Cultured or non cultured melanocytes were then transplanted to the recipient area that had been superficially dermabraded. 100 patches of vitiligo in patients reporting to this hospital were randomly allocated into 2 groups to receive either of the interventions. RESULTS: An excellent response was seen in 62.17% cases with the autologous melanocyte rich cell suspension technique and in 52% with the melanocyte culture technique. CONCLUSION: Autologous melanocyte transplantation can be an effective form of surgical treatment in stable but recalcitrant lesions of vitiligo. Large areas of skin can be covered with a smaller donor skin using melanocyte culture technique; however culture method is more time consuming, and a labour intensive process, requiring state of the art equipments with a sterile lab setup.

Rate of decline in CD4 count in HIV patients not on antiretroviral therapy.

BACKGROUND: The progressive decline in the CD4 count in HIV patients leads to a more general decline in immune functioning. The study has been carried out to determine the decline in CD4 count in HIV patients. METHODS: The study was conducted in a medical college hospital at Maharashtra. The information on baseline CD4 count was gathered from positive patient records registered in the central disease registry. The baseline CD4 count was the first count of CD4 obtained when the patient is diagnosed as HIV positive and further two subsequent readings. The time from baseline (t1) till the last CD4 count (t2) was divided into the different quartiles and the median decline in CD4 count in each quartile was determined. As the time between the two CD4 count measurements was not uniform the rate of change in CD4 was measured with respect to time as [X (t2) - X (t1)/(t2 - t1)]. Correlation was assessed using correlation coefficient. RESULTS: As the CD4 counts were following skewed distribution, the normality was achieved by cuberoot transformation. The overall rate of decline in CD4 count was estimated to be 35 cells/µL per year with 95% confidence interval (CI) as (17.01, 85.04). The correlation coefficient between decline in CD4 and the initial CD4 count in the four time quartiles was (r = -0.51; p = 0.001, r = -0.79; p = 0.000, r = -0.48; p = 0.015 and r = -0.80; p = 0.000) respectively. The median decline in the CD4 count in 0-6 months was 3 cells/µL, in (6-11) months was approximately 26 cells/µL, in (11-21.5) months was 30 cells/µL and in more than 21.5 months the median decline was 52 cells/µL. CONCLUSIONS: There was a progressive decline in the CD4 count following HIV infection. An understanding of the influence of decline in CD4 count in HIV patients not on ART is important for clinical management of HIV disease.

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

Spinocerebellar ataxia type 10 (SCA10; MIM 603516; refs 1,2) is an autosomal dominant disorder characterized by cerebellar ataxia and seizures. The gene SCA10 maps to a 3.8-cM interval on human chromosome 22q13-qter (refs 1,2). Because several other SCA subtypes show trinucleotide repeat expansions, we examined microsatellites in this region. We found an expansion of a pentanucleotide (ATTCT) repeat in intron 9 of SCA10 in all patients in five Mexican SCA10 families. There was an inverse correlation between the expansion size, up to 22.5 kb larger than the normal allele, and the age of onset (r2=0.34, P=0.018). Analysis of 562 chromosomes from unaffected individuals of various ethnic origins (including 242 chromosomes from Mexican persons) showed a range of 10 to 22 ATTCT repeats with no evidence of expansions. Our data indicate that the new SCA10 intronic ATTCT pentanucleotide repeat in SCA10 patients is unstable and represents the largest microsatellite expansion found so far in the human genome.

Digital chest radiography image quality assessment with dose reduction.

A retrospective study of digital chest radiography was performed to compare the image quality and dose parameters from two X-ray rooms in different areas of the same hospital using identical X-ray units but different local protocol for obtaining chest PA and lateral radiographs. Image quality of radiographs was assessed from the printed films using well established European guidelines and modified criteria. Patient entrance surface air kerma was calculated using technical data recorded for each radiograph and measured output of the X-ray unit. Effective dose and dose to radiosensitive organs was estimated using dose calculation software PCXMC. There was no statistical significant difference in the evaluated image quality using either technique, median entrance surface air kerma to the patient reduced significantly with added filtration technique and use of normal density setting. Phantom measurements indicated that an additional filtration of 0.1 mm Cu + 1 mm Al in the X-ray beam alone reduced the entrance surface air kerma by 35%.

Impact of the HIV epidemic and Anti-Retroviral Treatment policy on lymphoma incidence and subtypes seen in the Western Cape of South Africa, 2002-2009: preliminary findings of the Tygerberg Lymphoma Study Group.

The Tygerberg Lymphoma Study Group was constituted in 2007 to quantify the impact of HIV on the pattern and burden of lymphoma cases in the Western Cape of South Africa which currently has an HIV prevalence of 15%. South Africa has had an Anti-Retroviral Treatment (ART) policy and a roll-out plan since 2004 attaining 31% effective coverage in 2009. This study is designed to qualify and establish the impact of HIV epidemic and the ARV roll-out treatment program on the incidence of HIV Related Lymphoma (HRL). Early data document that despite the ART roll out, cases of HRL are increasing in this geographical location, now accounting for 37% of all lymphomas seen in 2009 which is an increase from 5% in 2002. This is in contrast to trends seen in developed environments following the introduction of ART. Also noted are the emergence of subtypes not previously seen in this location such as Burkitt and plasmablastic lymphomas. Burkitt lymphoma is now the commonest HRL seen in this population followed by diffuse large B-cell lymphoma subtypes. The reasons for this observed increase in HRL are not ascribable to improved diagnostic capacity as the tertiary institute in which these diagnoses are made has had significant expertise in this regard for over a decade. We ascribe this paradoxical finding to an ART treatment environment that is ineffective for a diversity of reasons, paramount of which are poor coverage, late commencement of ART and incomplete viral suppression.

Immune reconstitution inflammatory syndrome in leprosy.

Immune reconstitution inflammatory syndrome (IRIS) is a paradoxical deterioration in the clinical status of a patient infected with human immunodeficiency virus (HIV) on highly active antiretroviral treatment (HAART). The immune suppression caused by the virus can initially suppress the clinical manifestations of leprosy which can then be unmasked after treatment with HAART or an inflammatory reaction can occur in the initial months of therapy, resulting from dysregulated recovery of immunity to specific antigens. Both these conditions are identified as IRIS in leprosy. Though this syndrome is a widely recognized entity presently, there is still a lack of universally acceptable diagnostic criteria for the condition. The first case published case of leprosy- associated immune reconstitution disease was reported in 2003 and about 47 confirmed cases of IRIS in leprosy have been reported since then, mostly from Brazil and India. Anti-inflammatory drugs and steroids are the drugs of choice in inflammatory episodes with continuation of antiretroviral therapy. With increasing affordability of antiretroviral therapy, clinicians will put more and more number of human immunodeficiency virus infected patients on therapy and hence an increase in the incidence of IRIS is expected. Therefore, it is important to understand all facets of this syndrome which is becoming more prevalent with each passing day.

Human papillomavirus (HPV) vaccine uptake among a community-recruited sample of gay, bisexual, and other men who have sex with men in the three largest cities in Canada from 2017 to 2019.

INTRODUCTION: In 2015/2016, Canada's largest provinces implemented publicly-funded human papillomavirus (HPV) vaccination programs for gay, bisexual, and other men who have sex with men (GBM) ≤ 26 years old. We sought to describe HPV vaccine uptake among GBM and determine barriers and facilitators to vaccine initiation with a focus on healthcare access and utilization. METHODS: Engage is a cohort study among GBM aged 16 + years in three Canadian cities recruited from 2017 to 2019 via respondent driven sampling (RDS). Men completed a comprehensive questionnaire at baseline. By publicly-funded vaccine eligibility (≤26 years old = eligible for vaccination, ≥27 years old = ineligible), we described HPV vaccine uptake (initiation = 1 + dose, completion = 3 doses) and explored factors associated with vaccine initiation using Poisson regression. All analyses were weighted with the RDS-II Volz-Heckathorn estimator. RESULTS: Across the three cities, 26-35% and 14-21% of men ≤ 26 years and 7-26% and 2-9% of men ≥ 27 years initiated and completed HPV vaccination, respectively. Vaccine initiation was significantly associated with STI/HIV testing or visiting a HIV care specialist in the past six months (≤26: prevalence ratio[PR] = 2.15, 95% confidence interval[CI] 1.06-4.36; ≥27: PR = 2.73, 95%CI 1.14-6.51) and past hepatitis A or B vaccination (≤26: PR = 2.88, 95%CI 1.64-5.05; ≥27: PR = 2.03, 95%CI 1.07-3.86). Among men ≥ 27 years old, vaccine initiation was also positively associated with accessing PrEP, living in Vancouver or Toronto, but negatively associated with identifying as Latin American and increasing age. Vaccine initiation was twice as likely among men ≥ 27 years with private insurance versus no insurance. CONCLUSIONS: Sixty-five to 74% of men eligible for publicly-funded vaccine across the three cities remained unvaccinated against HPV by 2019. High vaccine cost may partly explain even lower uptake among men ≥ 27 years old. Men seeking sexual health care were more likely to initiate vaccination; bundling vaccination with these services may help improve HPV vaccine uptake.

Human papillomavirus (HPV) vaccination across a cascade of knowledge, willingness, and uptake among gay, bisexual, and other men who have sex with men in Canada's three largest cities.

BACKGROUND: Some Canadian jurisdictions offer publicly funded HPV vaccine to gay, bisexual, and other men who have sex with men (GBM) aged ≤26 years. We characterized factors associated with being in different stages of HPV vaccination. METHODS: Engage is a sexual health study of GBM in the three largest Canadian cities recruited via respondent driven sampling (RDS). We categorized participants as: (1) unaware of HPV vaccine, (2) undecided/unwilling to get vaccinated, (3) willing to get vaccinated, (4) vaccinated with one or more doses. Our RDS-II weighted analyses used multinomial logistic regression to identify factors associated with being in earlier stages of the cascade compared to Stage 4. RESULTS: Across the cities, 26-40%, 7-14%, 33-39%, and 13-28% were in Stages 1 to 4, respectively. Compared to Stage 4, being in earlier stages of the cascade was associated with bisexual-identification (Stage 1: adjusted odds ratio[aOR] = 2.84, 95% confidence interval[CI] = 1.06-7.62; Stage 2: aOR = 3.09, 95%CI = 1.19-8.05), having immigrated to Canada (Stage 1: aOR = 1.79, 95%CI 1.07-2.99), preference to keep same-sex romantic relationships private (Stage 1: aOR = 1.25, 95% CI = 1.05-1.48; Stage 2: aOR = 1.24, 95%CI = 1.05-1.46), not receiving sexual health information (Stage 1: aOR = 0.31, 95% CI = 0.13-0.71; Stage 2: aOR = 0.27, 95%CI = 0.12-0.64), not accessing a health-care provider (Stage 2: aOR = 0.36, 95%CI = 0.15-0.83), and no past hepatitis A/B vaccination (Stage 1: aOR = 0.16, 95% CI = 0.09-0.30; Stage 2: aOR = 0.18, 95%CI = 0.09-0.35; Stage 3: aOR = 0.38, 95%CI = 0.21-0.61). DISCUSSION: Interventions are needed to reduce social and financial barriers, increase sexual health knowledge, and improve GBM-competent health-care access to increase vaccine uptake among GBM.

Noninvasive Monitoring of Mantle Cell Lymphoma by Immunoglobulin Gene Next-Generation Sequencing in a Phase 2 Study of Sequential Chemoradioimmunotherapy Followed by Autologous Stem-Cell Rescue.

BACKGROUND: Minimal residual disease (MRD) monitoring has been used to identify early molecular relapse and predict clinical relapse in mantle cell lymphoma (MCL). Few published data exist in MCL on the performance of next-generation sequencing-based assay of immunoglobulin gene rearrangements for MRD assessment. PATIENTS AND METHODS: In a prospective clinical trial (NCT01484093) with intensive induction chemotherapy and autologous stem-cell transplantation, posttreatment peripheral blood samples were collected from 16 MCL patients and analyzed with an earlier version of the Adaptive Biotechnologies MRD assay. RESULTS: Of the 7 patients whose disease remained in remission, the MRD test remained negative in 5 (71%). Of the 9 patients who experienced relapse, the MRD test was positive at least 3 months before relapse in 6 patients (67%) and positive at the time of relapse in 1 patient (11%). All patients with at least 2 positive MRD tests experienced relapse. CONCLUSION: The next-generation sequencing-based MRD assay identified early molecular relapse, and we observed more sensitivity in the cellular (circulating leukocytes) versus acellular (plasma cell-free DNA) compartment. This observation may be due to availability of tumor target or a limitation of the assay.

The G1138A mutation rate in the fibroblast growth factor receptor 3 (FGFR3) gene is increased in cells carrying the t (4; 14) translocation.

Spontaneous mutations are a common phenomenon, occurring in both germ-line and somatic genomes. They may have deleterious consequences including the development of genetic disorders or, when occurring in somatic tissues, may participate in the process of carcinogenesis. Similar to many mutational hotspots, the G1138A mutation in the fibroblast growth factor receptor 3 (FGFR3) gene occurs at a CpG site. In germ-line tissues, the G1138A mutation results in achondroplasia and has one of the highest spontaneous mutation rates in the human genome. Although not at the G1138A site, there are increased rates of other somatic mutations in the FGFR3 gene that have been reported in multiple myeloma cases associated with a translocation, t (4; 14). The chromosome-4 break points in this translocation are clustered in a 70-kb region centromeric to the FGFR3 gene. We hypothesized that this translocation may impact the mutation rate at the G1138A site. We employed a semi-quantitative polymerase chain reaction-based assay to measure the frequency of this mutation in multiple myeloma cell lines carrying t (4; 14) translocation. Analysis of these cell lines varied from no change to a 10-fold increase in the mutation frequency compared with normal controls. In general, there was an increase in the G1138A mutational frequency suggesting that chromosomal rearrangement can affect the stability of the CpG hotspots.

Focal myocardial uptake in a patient with carcinoid tumor by indium-111-pentetreotide on SPECT/CT.

We present a case of a 44 year old man with flushing, diarrhea and markedly elevated 24 hour urinary 5-HIAA level, who was referred for an indium-111 pentetreotide study, after the excision of a carcinoid tumor in the terminal ileum. Scan findings revealed focal uptake in the myocardium and liver, suspicious for metastases. Subsequent transthoracic echocardiogram failed to demonstrate a cardiac lesion. Previously, our group has unequivocally demonstrated the usefulness of software fusion of SPECT and CT imaging in the evaluation of a carcinoid metastasizing to the myocardium. This case illustrates that hardware SPECT/CT fusion imaging utilizing indium-111 pentetreotide to evaluate metastatic carcinoid tumors can be useful. In addition, the echocardiogram can yield false negative results, because of a smaller lesion size and the influence of an operator-dependent factor.

Incidence of Hodgkin lymphoma in HIV-positive and HIV-negative patients at a tertiary hospital in South Africa (2005 - 2016) and comparison with other African countries.

BACKGROUND: Hodgkin lymphoma (HL) is the most common non-AIDS-defining cancer in HIV-positive patients. Studies on South African (SA) populations have described the prevalence as 7 - 17% of all lymphomas, 8 - 27% of head and neck lymphomas, 9% of lymph node biopsies and 4% of HIV-related malignancies. OBJECTIVES: To describe the incidence of HL at our centre between 2005 and 2016 by year, gender, HIV status, histological subclassification and bone marrow involvement, and compare these findings with similar SA and African studies. METHODS: This was a retrospective study of all incident HL cases diagnosed in the Department of Pathology, National Health Laboratory Service, Tygerberg Academic Hospital, Cape Town. Follow-up, relapsed and referral cases were excluded. A positive diagnosis of HL was confirmed by either lymph node or bone marrow biopsy and was based on morphological and immunohistochemical findings in accordance with the World Health Organization classification. RESULTS: There were 303 incident cases of HL diagnosed. The incidence increased from 2005 to 2011, with a spike in cases in 2008 and a subsequent decline overall after 2011. The highest proportion of cases was in the 25 - 49-year-old age category (51.1%). There were 77 HIV-positive patients (25.4%), of whom 53 (68.8%) had CD4+ counts <500 cells/µL. In keeping with other African studies, the main subtypes were nodular sclerosis HL (49.8%) and mixed-cellularity HL (23.1%). Bone marrow biopsy following lymph node diagnosis of HL confirmed involvement in 23.7% of patients. CONCLUSIONS: Absolute numbers of cases of HL at our centre have increased since the roll-out of antiretroviral therapy (ART) to the public sector. The recent change in policy to make ART available to all HIV-positive patients independent of CD4+ count suggests that patients will survive longer and are therefore at increased risk of developing HL. We anticipate that numbers of HL cases will increase or remain high in the coming years, and we need to prepare for this.