Cardiac manifestations in inherited metabolic diseases.

Inherited metabolic diseases (IMD) are caused by the functional defect of an enzyme, of genetic origin, that provokes a blockage in a specific metabolic pathway. Individually, IMD are considered rare diseases, with an incidence of less than 1/100,000 births. The symptoms are usually multisystemic, but frequently include cardiac manifestations. Of these, the most common are cardiomyopathies, especially hypertrophic cardiomyopathy. In addition, they can cause dilated or restrictive cardiomyopathy and non-compacted cardiomyopathy of the left ventricle. Characteristic signs also include rhythm alterations (atrio-ventricular conduction disturbances, Wolff-Parkinson-White syndrome or ventricular arrhythmias), valvular pathology and ischaemic coronary pathologies. The aim of this study is to present a narrative review of the IMD that may produce cardiac involvement. We describe both the specific cardiac manifestations of each disease and the systemic symptoms that guide diagnosis.

Migration-associated malaria from Africa in southern Spain.

BACKGROUND: The western area of the province of Almeria, sited in southern Spain, has one of the highest immigrant population rates in Spain, mainly dedicated to agricultural work. In recent years, there has been a significant increase in the number of cases of imported malaria associated with migrants from countries belonging to sub-Saharan Africa. The objective of our study is to describe the epidemiological, clinical and analytical characteristics of malaria patients treated in a specialized tropical unit, paying special attention to the differences between VFR and non-VFR migrants and also to the peculiarities of microscopic malaria cases compared to submicroscopic ones. METHODS: Retrospective observational study of migrants over 14 years of age with imported malaria treated from October 2004 to May 2019. Characteristics of VFR and non-VFR migrants were compared. Malaria cases were divided into microscopic malaria (MM) and submicroscopic malaria (SMM). SMM was defined as the presence of a positive malaria PCR test together with a negative direct microscopic examination and a negative rapid diagnostic test (RDT). Microscopic malaria was defined as the presence of a positive RDT and/or a positive smear examination. RESULTS: Three hundred thirty-six cases of malaria were diagnosed, 329 in sub-Saharan immigrants. Of these, 78.1% were VFR migrants, in whom MM predominated (85.2% of cases). In non-VFR migrants, SMM represented 72.2% of the cases. Overall, 239 (72.6%) patients presented MM and 90 (27.4%) SMM. Fever was the most frequent clinical manifestation (64.4%), mainly in the MM group (MM: 81.1% vs SMM: 20.0%; p < 0.01). The most frequent species was P. falciparum. Patients with SMM presented fewer cytopenias and a greater number of coinfections due to soil-transmitted helminths, filarial and intestinal protozoa compared to patients with MM. CONCLUSIONS: Imported malaria in our area is closely related to sub-Saharan migration. VFR migrants are the main risk group, highlighting the need for actions aimed at improving disease prevention measures. On the other hand, almost a third of the cases are due to SMM. This fact could justify its systematic screening, at least for those travelers at greater risk.

Chronic hepatitis B genotype E in African migrants: response to nucleos(t)ide treatment in real clinical practice.

BACKGROUND: Hepatitis B virus (HBV) genotype E is a poorly studied genotype that almost exclusively occurs in African people. It seems to harbour intrinsic potential oncogenic activity and virological characteristics of immune scape but a paucity of information is available on clinical and virological characteristic of HBV genotype E-infected patients as well as on the efficacy of anti-HBV drugs for such patients. The increasing flow of migrants from high endemic HBV sub-Saharan Africa, where genotype E is the predominant one, to Western countries makes improving such knowledge critical in order to deliver proper medical care. METHODS: Prospective observational study of naïve patients of sub-Saharan origin treated for chronic HBV genotype E infection at a Tropical Medicine clinic sited in Spain from February 2004 to January 2018. The aim of the study was to describe the response of chronic HBV genotype E infection to nucleos(t)ide analogues (NA), entecavir or tenofovir, in real clinical practice. RESULTS: During the study period, 2209 sub-Saharan patients were assisted at our Tropical Medicine Unit and 609 (27.6%) had chronic HBV (CHB) infection. Genotype information was available for 55 naïve patients initiating treatment with NA (entecavir or tenofovir), 43 (84.3%) of them being genotype E, although 15 were excluded because they did not meet study inclusion criteria. Thus, a total of 28 CHB genotype E patients were included and followed for 24 months at least. Twenty-one patients were in HBeAg-negative chronic hepatitis phase and 7 patients in HBeAg-positive chronic hepatitis phase. After one year of treatment, among those with good adherence, 89.4% (17/19) of the HBeAg-negative patients and 80% of the HBeAg-positive ones had undetectable viral loads. Response rates reached 100% in both groups after 15-18 months of follow-up. Out of the 7 HBeAg-positive patients, 6 (85.7%) presented HBeAg loss in a median time of 31.8 months. Neither serious adverse effects nor hepatocarcinoma cases happened during the study period. CONCLUSIONS: HBV genotype may influence disease progression and antiviral response. Our study provides precious information on the efficacy and safety of NA treatment for CHB genotype E infection, a fairly unknown genotype with and increasing epidemiological impact.

Newly Arrived African Migrants to Spain: Epidemiology and Burden of Disease.

The aim of this study is to describe the epidemiological profile, clinical characteristics, and microbiological findings in African immigrants newly arrived to Spain attended at a specialized reference unit from October 2004 to February 2017. A common protocol for the screening of imported and cosmopolitan diseases was designed to evaluate patients with ≤ 12 months of stay in Spain. A total of 523 patients were included in the study, 488 (93.3%) of sub-Saharan origin. A high number of helminthic infections were diagnosed in sub-Saharan patients, including geohelminthiasis (hookworms 14.3%; Trichuris trichiura 4.1%; Ascaris lumbricoides 3.1%), schistosomiasis (12.3%), strongyloidiasis (17.2%), and filariasis (8.4%). Thirty-five patients (7.2%) had malaria, most by Plasmodium falciparum. Among communicable diseases, 33.6% of sub-Saharans presented HBsAg positivity compared with 5.7% of North African patients (P = 0.001). Thirteen patients were diagnosed with active tuberculosis. Seventy percent of the sub-Saharans and 40% of the North Africans who were tested had a latent tuberculosis infection (LTI). Treatment of LTI was administered in selected cases (14%), achieving end of treatment in 80% of them. In light of these results, effective screening strategies, particularly within the sub-Saharan immigrant population, including potentially communicable diseases and certain potentially serious parasitic diseases (Strongyloides, Schistosoma), should be implemented. It is necessary to facilitate fully and free of charge access to the public health system to newly arrived immigrants, as well as to implement programs and actions aimed at favoring care and follow-up, especially for communicable diseases. Empirical treatment of some parasitic diseases could be a cost-effective action.

Estudio de hepatitis B oculta en población inmigrante africana sin datos de hepatopatía / Study of hidden hepatitis B in African immigrant people without data of liver disease

No disponible

Uncinariasis importada en Almería / Imported Hookworm infection in Almeria

Objetivos: Estudio de las características clínicas y epidemiológicas de los pacientes inmigrantes diagnosticados de uncinariasis en la Unidad de Medicina Tropical del Hospital de Poniente (El Ejido, Almería).Material y métodos Estudio observacional retrospectivo de todos los pacientes inmigrantes diagnosticados de uncinariasis mediante visualización directa de los huevos en heces desde octubre de 2004 hasta diciembre de 2012.ResultadosDe 1.872 pacientes estudiados, 253 (13,5%) fueron diagnosticados de uncinariasis. En los pacientes con uncinariasis como única helmintiasis, el 8,3% presentó anemia ferropénica, el 65,7% no presentaba eosinofilia, y de estos, el 25,9% tampoco presentaba dolor abdominal. Conclusiones La uncinariasis es una parasitación frecuente en población inmigrante subsahariana. Muchos pacientes se encuentran asintomáticos, por lo que la aplicación del estudio protocolizado en población procedente de zonas endémicas permitiría diagnosticar y tratar un mayor número de pacientes con esta enfermedad (AU)

Objectives: To study the clinical and epidemiological characteristics of immigrant patients diagnosed with a hookworm infection in the Tropical Medicine Unit of the Hospital de Poniente in El Ejido (Almería, Spain).Material and methods: A retrospective observational study of all immigrant patients diagnosed with hookworm, by direct visualization of eggs in stool samples, from October 2004 until December 2012.Results: Of the 1872 patients studied, 253 (13.5%) were diagnosed with a hookworm infection. In patients where hookworm was the only helminthiasis diagnosed, 8.3% had iron deficiency anaemia, 65.7% did not have eosinophilia, and of these, 25.9% had no abdominal pain. Conclusions: Hookworm is a frequent parasite infestation in the Sub-Saharan immigrant population. Many patients are asymptomatic; thus the implementation of a study protocol for immigrants from endemic areas could diagnose and treat more patients with this disease (AU)

[Imported hookworm infection in Almeria]. / Uncinariasis importada en Almería.

OBJECTIVES: To study the clinical and epidemiological characteristics of immigrant patients diagnosed with a hookworm infection in the Tropical Medicine Unit of the Hospital de Poniente in El Ejido (Almería, Spain). MATERIAL AND METHODS: A retrospective observational study of all immigrant patients diagnosed with hookworm, by direct visualization of eggs in stool samples, from October 2004 until December 2012. RESULTS: Of the 1872patients studied, 253 (13.5%) were diagnosed with a hookworm infection. In patients where hookworm was the only helminthiasis diagnosed, 8.3% had iron deficiency anaemia, 65.7% did not have eosinophilia, and of these, 25.9% had no abdominal pain. CONCLUSIONS: Hookworm is a frequent parasite infestation in the Sub-Saharan immigrant population. Many patients are asymptomatic; thus the implementation of a study protocol for immigrants from endemic areas could diagnose and treat more patients with this disease.