[Andean children with aneurysmal bone cyst treated with polidocanol (use off-label)]. / Niños andinos con quiste óseo aneurismático tratados con polidocanol (uso fuera de etiqueta).

INTRODUCTION: The aneurysmal bone cyst is a rare benign but aggressive osteolytic tumor for which there is still no ideal treatment, the reports on treatment by sclerotherapy in the pediatric population are scarce and in our region even less. The objective is to communicate the experience of the treatment of aneurysmal bone cyst with polydocanol 3%. MATERIAL Y METHODS: Retrospective, descriptive and cross-sectional study. Period: June/2017 to June/2021. Inclusion: patients with histological diagnosis of aneurysmal bone cyst; Under general anesthesia and fluoroscopic guidance, intralesional puncture with 16G needle was performed through which 3% polydocanol was slowly administered. Data: medical history. Quantitative variables shall be expressed in measures of central tendency and dispersion; qualitative variables shall be expressed as frequencies or percentages. RESULTS: Nine consecutive patients were included, all of whom had pain and tumor in one of the extremities. Gender: 3 female and 6 male. Age: median 10.5 years (range: 2-15.1). Weight: median 32.8 kg (range: 11-44.5). Total procedures: 44; procedures per patient: mean 4.9 (SD: ± 2.0). Procedure time: mean 33.9 minutes (SD: ± 18.3); radiation: mean 1.34 mGy (SD: ± 1.55). Hospitalization: one day, except one patient. Complications: skin damage in one case, no recurrences follow-up: 12 to 50 months. CONCLUSION: In this pediatric series, polydocanol 3% was useful and effective for the treatment of aneurysmal bone cyst, with few complications. One disadvantage is that it requires several sessions and in addition, no significant difference has been demonstrated between other forms of treatment in terms of the recurrence rate.

INTRODUCCIÓN: El quiste óseo aneurismático es un raro tumor osteolítico benigno, pero agresivo para el que aún no existe tratamiento ideal. Los comunicados sobre tratamiento mediante escleroterapia en población pediátrica son escasos y en nuestra región más aún. El objetivo es comunicar la experiencia del tratamiento del quiste óseo aneurismático con polidocanol 3%. MATERIAL Y MÉTODOS: Estudio retrospectivo, descriptivo y transversal. Período: Junio de 2017 a Junio de 2021. Inclusión: pacientes con diagnóstico histológico de quiste óseo aneurismático. Bajo anestesia general y guía fluoroscópica se realizó punción intralesional con aguja 16G a través de la cual se administró lentamente el polidocanol 3%. Datos: historia clínica. Las variables cuantitativas se expresarán en medidas de tendencia central y de dispersión; las variables cualitativas se expresarán como frecuencias o porcentajes. RESULTADOS: Se incluyeron nueve pacientes consecutivos, todos presentaban dolor y tumoración en alguna de las extremidades. Género: tres femeninos y seis masculinos. Edad: mediana 10.5 años (rango: 2-15.1). Peso: mediana 32.8 kg (rango: 11-44.5). Total de procedimientos: 44, procedimientos por paciente: promedio 4.9 (DE: ± 2.0). Tiempo de procedimiento: promedio 33.9 minutos (DE: ± 18.3); radiación: promedio 1.34 mGy (DE: ± 1.55). Hospitalización: un día, excepto un paciente. Complicaciones: Daño de piel en un caso, no recidivas. Seguimiento: de 12 a 50 meses. CONCLUSIÓN: En esta serie pediátrica el polidocanol 3% fue útil y efectivo para el tratamiento del quiste óseo aneurismático con escasas complicaciones. Una desventaja es que requiere varias sesiones y además, no se ha demostrado una diferencia significativa entre otras formas de tratamiento en términos de la tasa de recurrencia.

Hyperlipoproteinaemia(a) is a common cause of autosomal dominant hypercholesterolaemia.

UNLABELLED: Autosomal dominant hypercholesterolaemia (ADH) are a heterogeneous group of monogenic lipid disorders. The plasma level of lipoprotein(a) (Lp(a)) is a heritable trait associated with increased coronary heart disease (CHD) risk. OBJECTIVE: To evaluate the frequency of elevated Lp(a) as a cause of ADH and the characteristics of subjects with high Lp(a) (hyperLp(a)). MATERIAL AND METHODS: 200 healthy subjects and 933 unrelated Spanish subjects with a clinical diagnosis of ADH who were screened for low-density lipoprotein receptor (LDLR) and apolipoprotein B (APOB) gene mutations. Standard cardiovascular risk factors and blood lipid levels, including Lp(a), were evaluated. HyperLp(a) was defined as Lp(a) levels >or=95th centile of control values. RESULTS: Lp(a) was higher in 263 subjects without LDLR or APOB mutations (nonLDLR/nonAPOB group) than in 670 subjects with mutations (FH group): 40.0 mg/dl (interquartile range (IR) 15.0-89.0) versus 31.0 mg/dl (IR 11.0-73.7) respectively, p = 0.002. HyperLp(a) was present in 23% of ADH subjects (odds ratio (OR) 5.6 (95% CI, 2.9 to 10.7) versus controls) and 29% of nonLDLR/nonAPOB subjects (OR 7.7; 3.9 to 15.4). After adjusting for Lp(a), LDL cholesterol levels were <95th centile in 28 (10.6%) nonLDLR/nonAPOB subjects and in 9 (1.3%) FH subjects. Lp(a) levels were nonsignificantly higher in ADH subjects with early-onset CHD than in those without (43.5 mg/dl, (IR, 12.0-82.0) versus 31.7 mg/dl (11.8-76.5), respectively). CONCLUSIONS: HyperLp(a) is responsible for ADH in approximately 6% of nonLDLR/nonAPOB subjects. HyperLp(a) would not appear to be a risk factor for early-onset CHD in ADH, independently of whether genetic defects have or have not been demonstrated.

Increased intestinal cholesterol absorption in autosomal dominant hypercholesterolemia and no mutations in the low-density lipoprotein receptor or apolipoprotein B genes.

CONTEXT: Autosomal dominant hypercholesterolemia (ADH) is frequently caused by functional mutations in the low-density lipoprotein receptor (LDLR) or apolipoprotein B-100 (APOB) genes, but approximately 40% of ADH subjects disclose no such molecular defects, possibly pointing to alternative genetic mechanisms. OBJECTIVE: Our objective was to test the hypothesis that increased intestinal cholesterol absorption might play a role in the lipid abnormalities of subjects with ADH without identified genetic defects. DESIGN AND SETTING: This is a cross-sectional study of consecutive subjects with primary hyperlipidemia identified during an 18-month period in two lipid clinics. STUDY SUBJECTS: A total of 52 subjects with a clinical diagnosis of ADH were examined for molecular defects in LDLR and APOB. No APOB defects were found. Functional LDLR mutations occurred in 31 (60%) subjects, who received a diagnosis of familial hypercholesterolemia (FH). Those for whom no mutations could be identified were labeled as non-FH ADH. In addition, 38 subjects with familial combined hyperlipidemia (FCH) and 45 normolipidemic control subjects were studied. INTERVENTIONS: Interventions were diagnostic. MAIN OUTCOME MEASURES: Serum noncholesterol sterols were used as markers for the efficiency of intestinal cholesterol absorption. RESULTS: Adjusted campesterol to cholesterol ratios increased in the order non-FH ADH more than FH more than controls more than FCH, with mean values (95% confidence interval) in 10(2) mmol/mol cholesterol of 505 (424-600), 397 (345-458), 335 (294-382), and 284 (247-328), respectively. Thus, cholesterol absorption was lowest in FCH and highest in non-FH ADH. CONCLUSIONS: Increased intestinal cholesterol absorption may partially explain the high cholesterol levels of non-FH ADH subjects. Serum noncholesterol sterols are a useful tool for the differential diagnosis of genetic hypercholesterolemias, especially FCH and ADH unrelated to LDLR or APOB defects.

Allelic polymorphism -491A/T in apo E gene modulates the lipid-lowering response in combined hyperlipidemia treatment.

BACKGROUND: Combined hyperlipidemia (CHL) is one of the dyslipidemias more frequently found in clinical practice, and lipid-lowering drugs are often necessary in its management. Some genetic loci have been associated with CHL expression, and some studies have shown modulation of drugs efficiency in the treatment of dyslipidemias by genetic polymorphisms. We have investigated whether common polymorphisms and mutations in the apolipoprotein (apo) E, lipoprotein lipase (LPL), and apo CIII genes influence atorvastatin or bezafibrate responses in patients with CHL. DESIGN: One hundred and sixteen subjects participating in the ATOMIX study (Atorvastatin in Mixed dyslipidemia) were randomized to treatment with either atorvastatin or bezafibrate. Apolipoprotein E genotype and common -491A/T and -219T/G polymorphisms in the apo E gene promoter region, Sst I polymorphism in the apo CIII gene (3238C/G), and D9N and N291S common mutations in the LPL gene were determined by polymerase chain reaction (PCR) and restriction enzyme digestion. RESULTS: Statistical analysis showed the influence of the -491A/T polymorphism in atorvastatin and bezafibrate treatments. Subjects carrying the -491T allele showed an increased LDL-cholesterol-lowering effect with atorvastatin compared with -491T allele noncarriers (-35% vs. -27%, P = 0.037). Subjects carrying the -491T allele, when on bezafibrate treatment, showed a lower triglyceride reduction compared with -491T allele noncarriers (-23% vs. -39%, P = 0.05). CONCLUSIONS: In our study, the -491A/T polymorphism in the apo E gene promoter region modulated the lipid-lowering efficiency of atorvastatin and bezafibrate in CHL patients. Such influence might explain some of the interindividual response variabilities observed for the two drugs, and could help in CHL management.

Expression of human apolipoprotein A-I/C-III/A-IV gene cluster in mice reduces atherogenesis in response to a high fat-high cholesterol diet.

We have previously generated transgenic (Tg) mice expressing the human apolipoprotein (apo) A-I/C-III/A-IV gene cluster. This expression induced hyperlipidemia but reduced atherosclerotic lesions in genetically modified mice lacking apoE. Atherosclerosis is a multifactorial process and environmental factors such as diet play significant roles in its development. We examined here how an atherogenic diet influences the expression of the human genes and the characteristics of the Tg mice. Our results indicate that a high fat-high cholesterol diet up-regulates the intestinal expression of the three genes and the concentration of the three proteins in plasma. Cholesterol concentration was highly increased in the non-high density lipoprotein (HDL) fraction, and less, although significantly, in the HDL fraction. Tgs showed a 65% reduction in diet-induced aortic lesions compared with non-Tg mice. Atherogenic diet increases the expression of the genes encoding the scavenger receptor class B type I (SR-BI) and ATP binding cassette transporter 1 (ABCA1) proteins. As cholesterol efflux mediated by SR-BI or by ABCA1 was enhanced in Tg mice fed an atherogenic diet, we can hypothesize that increased reverse cholesterol transport is the basis of the protective mechanism observed in these animals. In conclusion, we present evidence that the expression of the human gene cluster in mice protects against atherogenesis in response to an atherogenic diet.

Enhanced fractional catabolic rate of apo A-I and apo A-II in heterozygous subjects for apo A-I(Zaragoza) (L144R).

We have recently reported a new apolipoprotein (apo) A-I variant (apo A-I(Zaragoza) L144R) in a Spanish family with HDL-C levels below the 5th percentile for age and sex and low apo A-I concentrations. All the apo A-I(Zaragoza) subjects were heterozygous and none of them showed evidence of coronary artery disease (CAD). Mean plasma HDL-C, apo A-I, and apo A-II levels were lower in apo A-I(Zaragoza) carriers as compared to control subjects (40, 60, and 50%, respectively). Lipid composition analysis revealed that apo A-I(Zaragoza) carriers had HDL particles with a higher percentage of HDL triglyceride and a lower percentage of HDL esterified cholesterol as compared to those of control subjects. Lecithin:cholesterol acyltransferase (LCAT) activity and cholesterol esterification rate of apo A-I(Zaragoza) carriers were normal. Apo A-I and apo A-II metabolic studies were performed on two heterozygous apo A-I(Zaragoza) carriers and on six control subjects. We used a primed constant infusion of [5,5,5-2H3]leucine and HDL apo A-I and apo A-II tracer/tracee ratios were determined by gas chromatography mass spectrometry and fitted to a monoexponential equation using SAAM II software. Both subjects carrying apo A-I(Zaragoza) variant showed mean apo A-I fractional catabolic rate (FCR) values more than two-fold higher than mean FCR values of their controls (0.470+/-0.0792 vs. 0.207+/-0.0635 x day(-1), respectively). Apo A-I secretion rate (SR) of apo A-I(Zaragoza) subjects was slightly increased compared with controls (17.32+/-0.226 vs. 12.76+/-3.918 mg x kg(-l) x day(-1), respectively). Apo A-II FCR was also markedly elevated in both subjects with apo A-I(Zaragoza) when compared with controls (0.366+/-0.1450 vs. 0.171+/-0.0333 x day(-1), respectively) and apo A-II SR was normal (2.31+/-0.517 vs. 2.1+/-0.684 mg x kg(-l) x day(-1), respectively). Our results show that the apo A-I(Zaragoza) variant results in heterozygosis in abnormal HDL particle composition and in enhanced catabolism of apo A-I and apo A-II without affecting significantly the secretion rates of these apolipoproteins and the LCAT activation.

enfermo mental y el Hospital Psiquiátrico

Presenta al trabajador social en asistencia psiquiátrica al enfermo mental en el Hospital Neuropsiquiátrico. Describe la enfermedad, diagnóstico y tratamiento; además de la evolución histórica del hospital psiquiátrico y de la enfermedad mental en el Paraguay