Age and multimorbidities as poor prognostic factors for COVID-19 in hemodialysis: a Lebanese national study.

BACKGROUND: Hemodialysis patients with COVID-19 have been reported to be at higher risk for death than the general population. Several prognostic factors have been identified in the studies from Asian, European or American countries. This is the first national Lebanese study assessing the factors associated with SARS-CoV-2 mortality in hemodialysis patients. METHODS: This is an observational study that included all chronic hemodialysis patients in Lebanon who were tested positive for SARS-CoV-2 from 31st March to 1st November 2020. Data on demographics, comorbidities, admission to hospital and outcome were collected retrospectively from the patients' medical records. A binary logistic regression analysis was performed to assess risk factors for mortality. RESULTS: A total of 231 patients were included. Mean age was 61.46 ± 13.99 years with a sex ratio of 128 males to 103 females. Around half of the patients were diabetics, 79.2% presented with fever. A total of 115 patients were admitted to the hospital, 59% of them within the first day of diagnosis. Hypoxia was the major reason for hospitalization. Death rate was 23.8% after a median duration of 6 (IQR, 2 to 10) days. Adjusted regression analysis showed a higher risk for death among older patients (odds ratio = 1.038; 95% confidence interval: 1.013, 1.065), patients with heart failure (odds ratio = 4.42; 95% confidence interval: 2.06, 9.49), coronary artery disease (odds ratio = 3.27; 95% confidence interval: 1.69, 6.30), multimorbidities (odds ratio = 1.593; 95% confidence interval: 1.247, 2.036), fever (odds ratio = 6.66; 95% confidence interval: 1.94, 27.81), CRP above 100 mg/L (odds ratio = 4.76; 95% confidence interval: 1.48, 15.30), and pneumonia (odds ratio = 19.18; 95% confidence interval: 6.47, 56.83). CONCLUSIONS: This national study identified older age, coronary artery disease, heart failure, multimorbidities, fever and pneumonia as risk factors for death in patients with COVID-19 on chronic hemodialysis. The death rate was comparable to other countries and estimated at 23.8%.

ScreenPro FH - Screening Project for Familial Hypercholesterolemia in Central, Southern and Eastern Europe: Rationale and Design.

Familial hypercholesterolemia (FH) is a genetic disorder with well-known genetic transmission and clinical course. Despite great recent progress, FH is still underestimated, under-diagnosed and thus undertreated. Furthermore it represents a significant healthcare challenge as a common risk factor for the premature development of coronary heart disease. The ScreenPro FH Project is an international network project aiming at improving complex care - from timely screening, through diagnosis to up-to-date treatment of familial hypercholesterolemia in Central, Eastern and Southern Europe. An important task for the project is to harmonise and unify diagnostic and therapeutic approaches in participating countries, where the situation differs from country to country. Countries with more experience should serve as a model for countries developing the FH network.Key words: diagnosis - familial hypercholesterolemia - screening - treatment optimization.

ScreenPro FH - Screening Project for Familial Hypercholesterolemia in Central, Southern and Eastern Europe: Basic Epidemiology.

INTRODUCTION: Despite great recent progress, familial hypercholesterolemia (FH) is still underestimated, under-diagnosed and thus undertreated worldwide. We have very little information on exact prevalence of patients with FH in the Central, Eastern and Southern Europe (CESE) region. The aim of the study was to describe the epidemiological situation in the CESE region from data available. METHODS: All local leaders of the ScreenPro FH project were asked to provide local data on (a) expert guess of FH prevalence (b) the medical facilities focused on FH already in place (c) the diagnostic criteria used (d) the number of patients already evidenced in local database and (e) the availability of therapeutic options (especially plasma apheresis). RESULTS: With the guess prevalence of FH around 1 : 500, we estimate the overall population of 588 363 FH heterozygotes in the CESE region. Only 14 108 persons (2.4 %) were depicted in local databases; but the depiction rate varied between 0.1 % and 31.6 %. Only four out of 17 participating countries reported the the LDL apheresis availability. CONCLUSION: Our data point to the large population of heterozygous FH patients in the CESE region but low diagnostic rate. However structures through the ScreenPro FH project are being created and we can hope that the results will appear soon.Key words: diagnosis - epidemiology - familial hypercholesterolemia - screening.

Low-density lipoprotein levels and not mutation status predict intima-media thickness in familial hypercholesterolemia.

BACKGROUND: Intima-media thickness (IMT) is a well-described marker of cardiovascular disease. In this study we aim to determine whether low-density lipoprotein (LDL) levels and disease-related mutation status can predict IMT in patients with severe familial hypercholesterolemia (FH) referred for or on LDL apheresis. METHODS: Genetic screening, lipid profile testing, and IMT measurements were performed on a series of 33 severe FH patients (19 homozygous) on LDL apheresis treatments (LDL 447 ± 151 mg/dL, age range 6-60 years). Data were then compared with literature IMT-LDL data for normal subjects, mild FH patients, and severe FH patients (18, 41, and 6 studies, respectively). RESULTS: Age-adjusted IMT was linearly related to LDL levels over a wide range of values (<500 mg/dL), except for the severe FH no-apheresis cohort. Alternatively, our severe FH population (mostly on apheresis) did follow the mild FH/control age-adjusted IMT-LDL relation. CONCLUSIONS: In severe FH, measuring LDL levels is more predictive of increased IMT than genetic screening.

Portosystemic collateral vessels in liver cirrhosis: a three-dimensional MDCT pictorial review.

PURPOSE: Portosystemic collateral vessels (PSCV) are a consequence of the portal hypertension that occurs in chronic liver diseases. Their prognosis is strongly marked by the risk of digestive hemorrhage and hepatic encephalopathy. MATERIALS AND METHODS: CT was performed with a 16-MDCT scanner. Maximum intensity projection and volume rendering were systematically performed on a workstation to analyze PSCV. RESULTS: We describe the PSCV according to their drainage into either the superior or the inferior vena cava. In the superior vena cave group, we found gastric veins, gastric varices, esophageal, and para-esophageal varices. In the inferior vena cava group, the possible PSCV are numerous, with different sub groups: gastro and spleno renal shunts, paraumbilical and abdominal wall veins, retroperitoneal shunts, mesenteric varices, gallbladder varices, and omental collateral vessels. Regarding clinical consequences esophageal and gastric varices are most frequently involved in digestive bleeding; splenorenal shunts often lead to hepatic encephalopathy; the paraumbilical vein is an acceptable derivation pathway for natural decompression of the portal system. CONCLUSION: Knowledge of precise cartography of PSCV is essential to therapeutic decisions. MDCT is the best way to understand and describe the different types of PSCV.

A novel pyrolytic carbon implant for hallux rigidus: a cadaveric study.

BACKGROUND: The aim of this cadaveric study was to assess the technical feasibility of inserting a novel interpositional pyrolytic carbon coated implant in the first MTP joint, determine the best surgical procedure for the implantation, and evaluate the dynamic behavior of the joint after surgery. METHODS: The marble implant was inserted in the first metatarsophalangeal joint of five pairs of cadaveric feet using two different surgical approaches, dorsal and medial, for each pair. The stability and mobility of the feet before and after implantation, as well as the relationship between the implant and the sesamoids, were assessed by static and dynamic fluoroscopy. RESULTS: After implantation, the stability was perfect in all positions and the mobility was conserved. There were no conflicts between the sesamoids and the implant during the movement of the first metatarsophalangeal joint. Both the dorsal and the medial surgical approaches led to similar findings. CONCLUSION: To our knowledge, this is the first anatomic evaluation of this type of implant. Whereas the results of the technique obtained on cadaveric feet were satisfactory, caution has to be applied to trying to apply this procedure to the living patient.

The effect of religious background on the attitude towards sex selection.

OBJECTIVES: Surveys of the general population regarding sex selection using pre-implantation genetic diagnosis are limited and were mainly conducted in the United States and Northern Europe. In those Western societies, surveys have shown that people's interest in using sex selection techniques is encouraged by the desire for a sexually balanced family. It is important to determine attitudes to sex selection in a wider range of countries especially that cultural differences exist among countries. STUDY DESIGN: A questionnaire-based cross-sectional study regarding attitudes towards sex selection for non-medical reasons was designed. One thousand five hundred participants of the reproductive age group presenting to the Women s Health Center at the American University of Beirut Medical Center were offered to complete the survey. The questionnaire included demographic details, obstetric and infertility history, opinions regarding sex selection, personal interest in expanding the family, and personal interest in choosing the sex of a future child. RESULTS: The response rate was 86.6%. Nineteen per cent of the respondents considered it strictly prohibited, 38.8% considered the technique acceptable only if medically indicated while 33.4% believed that it should be available to all those who request it. Multivariate logistic regression on the predictors of the variable affecting the attitudes towards sex selection showed that the educational level, religious disapproval and the desire of the opposite sex of the already existing children were the only significant predictors. CONCLUSION: The middle-eastern multi-religious population studied has a negative attitude towards sex selection through pre-implantation genetic diagnosis. Religion, educational status and desire of children of both genders were identified as the significant predictors of the decision whether to accept sex selection or not.

Premature Valvular Heart Disease in Homozygous Familial Hypercholesterolemia.

Valvular heart disease frequently occurs as a consequence of premature atherosclerosis in individuals with familial hypercholesterolemia (FH). Studies have primarily focused on aortic valve calcification in heterozygous FH, but there is paucity of data on the incidence of valvular disease in homozygous FH. We performed echocardiographic studies in 33 relatively young patients (mean age: 26 years) with homozygous FH (mean LDL of 447 mg/dL, 73% on LDL apheresis) to look for subclinical valvulopathy. Twenty-one patients had evidence of valvulopathy of the aortic or mitral valves, while seven subjects showed notable mitral regurgitation. Older patients were more likely to have aortic valve calcification (>21 versus ≤21 years: 59% versus 12.5%; p = 0.01) despite lower LDL levels at the time of the study (385 versus 513 mg/dL; p = 0.016). Patients with valvulopathy were older and had comparable LDL levels and a lower carotid intima-media thickness. Our data suggests that, in homozygous FH patients, valvulopathy (1) is present across a wide age spectrum and LDL levels and (2) is less likely to be influenced by lipid-lowering treatment. Echocardiographic studies that focused on aortic root thickening and stenosis and regurgitation are thus likely an effective modality for serial follow-up of subclinical valvular heart disease.

Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.

BACKGROUND: The familial inherited genetic disorder of lipoprotein metabolism affects more than 10 million individuals around the world. Lebanon is one of the several endemic areas for familial hypercholesterolemia (FH) with a founder mutation in the low-density lipoprotein cholesterol receptor (LDLR) gene, responsible for most of the cases. We have previously shown that 16% of all familial cases with hypercholesterolemia do not show genotype segregation of LDLR with the underlying phenotype. METHODS: We used Sanger sequencing to genotype 25 Lebanese families with severe FH for the gene encoding the LDLR-associated protein (LDLRAP1), responsible for the recessive form of the disease starting with the four families that did not show any genotype-phenotype correlation in our previous screening. RESULTS: We showed that the previously reported p.Q136* variant is linked to the hypercholesterolemia phenotype in the four families. In addition, we showed a variable phenotype between families and between members of the same family. One family exhibits mutations in both LDLR and LDLRAP1 with family members showing differential phenotypes unexplained by the underlying genotypes of the two genes. CONCLUSION: The p.Q136* variant in LDLRAP1 is yet another founder mutation in Lebanon and coupled with the LDLR p.C681* variant explains all the genetic causes of FH in Lebanon.