Experiencia de la administración de hierro endovenoso en hospitalización a domicilio mediante elastómeros / Experience of the administration of intravenous iron in hospitalization at home using elastomers

Objetivo: analizar las características clínicas y demográficas de las personas atendidas por la unidad de hospitalización a domicilio (HAD) que recibieron tratamiento de hierro endovenoso en perfusión por bomba elastomérica. Estudio retrospectivo desde enero del 2022 a noviembre del 2023.En total se administró hierro endovenoso con bomba elastomérica en el domicilio a un total de 53 personas siendo estas en un 74% pacientes crónicos complejos o pacientes con enferme-dad crónica avanzada. Ninguna de las personas a las que se les administró el tratamiento de hierro endovenoso presentaron reacciones adversas. Por ello, la administración de hierro endovenoso en el domicilio por el HAD supone una práctica eficaz y segura mejora la calidad de vida de las personas usuarias y su entorno familiar (AU)

Objective: to analyze the clinical and demographic characteristics of the people treated by the home hospitalization unit (HAD) who received intravenous iron treatment in infusion by elastomeric pump. Retrospective study from January 2022 to November 2023. In total, intravenous iron was administered with an elastomeric pump at home to a total of 53 people, 74% of whom were complex chronic patients or patients with advanced chronic disease. None of the people who were administered intravenous iron treatment had adverse reactions.This is why the administration of intravenous iron at home by the HAD is an effective and safe practice and improves the quality of life of users and their family environment. (AU)

Monozygotic Monochorionic Twins Discordant for Trisomy 21: A Reason to Evaluate Both Fetuses: A Case Report.

BACKGROUND: The occurrence of a discordant chromosomal abnormality in monozygotic twins is an extremely rare condition. CASE: We report the prenatal sonographic findings and cytogenetic studies in a monochorionic twin pregnancy discordant for severe fetal anomalies. Amniocentesis was normal for both twins. The pregnancy was managed conservatively, resulting in the delivery of discordant twins at 28 weeks. Cytogenetic analysis performed on cultured lymphocytes from peripheral blood revealed a mosaic 47XY+21 (in 2% of the cells)/46XY (in 98%) in the structurally normal twin, and a mosaic 47XY+21 (4%)/46XY (96%) for the abnormal twin. The abnormal neonate died shortly after delivery. The structurally normal twin survived without sequelae and had a normal karyotype 2 years later. CONCLUSION: This report adds to the literature a case of a monochorionic twin pregnancy with a mosaic fetus who gives his co-twin trisomic cells through placental vascular anastomoses, this twin being a chimera, highlighting the necessity of performing molecular genetics with polymorphic DNA markers to differentiate chimerism from mosaicism and define the origin of cell lines.

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

Array comparative genomic hybridization (aCGH) is a powerful genetic tool that has enabled the identification of novel imbalances in individuals with intellectual disability (ID), autistic disorders and congenital malformations. Here we report a 'genotype first' approach using aCGH on 13 unrelated patients with 19p13.3 submicroscopic rearrangement (11 deletions and 2 duplications) and review cases in the literature and in public databases. Shared phenotypic features suggest that these patients represent an interstitial microdeletion/microduplication syndrome at 19p13.3. Common features consist of abnormal head circumference in most patients (macrocephaly with the deletions and microcephaly with the duplications), ID with developmental delay (DD), hypotonia, speech delay and common dysmorphic features. The phenotype is associated with at least a ~0.113 Mb critical region harboring three strong candidate genes probably associated with DD, ID, speech delay and other dysmorphic features: MAP2K2, ZBTB7A and PIAS4, an E3 ubiquitin ligase involved in the ubiquitin signaling pathways, which we hypothesize for the first time to be associated with head size in humans.

Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization.

Inverted duplication 8p associated with deletion of the short arms of chromosome 8 (invdupdel[8p]) is a relatively uncommon complex chromosomal rearrangement, with an estimated incidence of 1 in 10,000-30,000 live borns. The chromosomal rearrangement consists of a deletion of the telomeric region (8p23-pter) and an inverted duplication of the 8p11.2-p22 region. Clinical manifestations of this disorder include severe to moderate intellectual disability and characteristic facial features. In most cases, there are also CNS associated malformations and congenital heart defects. In this work, we present the cytogenetic and molecular characterization of seven children with invdupdel(8p) rearrangements. Subsequently, we have carried out genotype-phenotype correlations in these seven patients. The majority of our patients carry a similar deletion but different size of duplications; the latter probably explaining the phenotypic variability among them. We recommend that complete clinical evaluation and detailed chromosomal microarray studies should be undertaken, enabling appropriate genetic counseling.

Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier.

BACKGROUND: We and others have previously reported that familial cytogenetic studies in apparently de novo genomic imbalances may reveal complex or uncommon inheritance mechanisms. METHODS: A familial, combined genomic and cytogenetic approach was systematically applied to the parents of all patients with unbalanced genome copy number changes. RESULTS: Discordant array-CGH and FISH results in the mother of a child with a prenatally detected 16p13.11 interstitial microduplication disclosed a balanced uncommon rearrangement in this chromosomal region. Further dosage and haplotype familial studies revealed that both the maternal grandfather and uncle had also the same 16p duplication as the proband. Genomic compensation observed in the mother probably occurred as a consequence of interchromosomal postzygotic nonallelic homologous recombination. CONCLUSIONS: We emphasize that such a dualistic strategy is essential for the full characterization of genomic rearrangements as well as for appropriate genetic counseling.

New microdeletion and microduplication syndromes: A comprehensive review.

Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies (MCA), autistic spectrum disorders (ASD) and other phenotypic findings. In this paper, we review the "new" and emergent microdeletion and microduplication syndromes that have been described and recognized in recent years with the aim of summarizing their main characteristics and chromosomal regions involved. We decided to group them by genomic region and within these groupings have classified them into those that include ID, MCA, ASD or other findings. This review does not intend to be exhaustive but is rather a quick guide to help pediatricians, clinical geneticists, cytogeneticists and/or molecular geneticists.

Déficit de alfa-1-antitripsina asociado a la variante Matawa / Alpha-1-Antitrypsin Deficiency Associated With the Mattawa Variant

Los alelos deficitarios más frecuentes son los Pi*S y Pi*Z, pero existen también otras variantes deficientes. En la presente nota clínica se describen los 2 primeros casos detectados en España de déficit de alfa-1-antitripsina (DAAT), resultante de la combinación de un alelo nulo Mattawa con un normal PI*M y con un raro Mmalton. Ambos casos fueron inicialmente diagnosticados como Pi*MM por isoelectroenfoque (IEE), pero los valores séricos bajos de AAT hicieron sospechar la existencia de alelos deficientes infrecuentes indetectables por IEE, por lo que se realizó un análisis molecular del gen que proporcionó el diagnóstico correcto. Las incoherencias entre los valores séricos de AAT y el fenotipo deben hacer sospechar la existencia de uno de estos alelos infrecuentes (AU)

The most common deficiency alleles for alpha-1-antitrypsin deficiency (AATD) are Pi*S and Pi*S, but there are also other deficiency variants. This case report describes the first two cases of AATD detected in Spain resulting from the combination of a null Mattawa allele with a normal PI*M, and a rare Mmalton. Both cases were initially diagnosed as Pi*MM by isoelectric focusing (IEF), but the low serum AAT values led us to suspect the existence of rare deficiency alleles that were undetectable using this technique, and to performing molecular analysis of the gene, which provided the correct diagnosis. Inconsistencies between serum AAT values and the phenotype should make one suspect the existence of one of these rare alleles (AU)

Alpha-1-antitrypsin deficiency associated with the Mattawa variant.

The most common deficiency alleles for alpha-1-antitrypsin deficiency (AATD) are Pi*S and Pi*S, but there are also other deficiency variants. This case report describes the first two cases of AATD detected in Spain resulting from the combination of a null Mattawa allele with a normal PI*M, and a rare Mmalton. Both cases were initially diagnosed as Pi*MM by isoelectric focusing (IEF), but the low serum AAT values led us to suspect the existence of rare deficiency alleles that were undetectable using this technique, and to performing molecular analysis of the gene, which provided the correct diagnosis. Inconsistencies between serum AAT values and the phenotype should make one suspect the existence of one of these rare alleles.

Reduction of severe exacerbations and hospitalization-derived costs in alpha-1-antitrypsin-deficient patients treated with alpha-1-antitrypsin augmentation therapy.

OBJECTIVE: Severe exacerbations in alpha-1-antitrypsin (AAT)-deficient patients with chronic obstructive pulmonary disease (COPD) and/or emphysema are a major cause of hospitalization. A multicentre, observational, retrospective study was undertaken to evaluate the effect of continuous AAT augmentation therapy in reducing the incidence of exacerbations in these patients. METHODS: Patients treated with Trypsone® or Prolastin® for at least 18 months were recruited if their medical records for 18 months before starting augmentation therapy were available. The number of mild and severe exacerbations in the two periods was compared and hospitalization-related costs were analysed. RESULTS: A total of 127 patients were recruited; 75 of them experienced at least one exacerbation in the period prior to augmentation. In the treatment period, the mean number of exacerbations per patient was reduced in both the total population and the population with exacerbations (mean ± SD: 1.2 ± 1.6 versus 1.0 ± 2.2 and 2.0 ± 1.6 versus 1.4 ± 2.7, respectively; p < 0.01). The percentage of patients experiencing exacerbations was reduced in the total population (59.1% versus 44.1%; p < 0.05). In the patient subgroup of the total population who experienced a change in their number of exacerbations between the two periods, 43.7% had a reduction and 21.4% had an increase (p < 0.01). The number of severe exacerbations diminished in 42.9% of this subgroup and increased in 12.0% (p < 0.001). Most adverse events were nonserious or not related to treatment. Hospitalization costs savings per patient associated with treatment ranged from approximately € 400 to € 900 (p < 0.05). CONCLUSIONS: Augmentation therapy with AAT concentrates was associated with a reduction in the incidence and severity of exacerbations in AAT-deficient patients, which resulted in lower hospitalization expenditures.

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

We report eight unrelated individuals with intellectual disability and overlapping submicroscopic deletions of 8q21.11 (0.66-13.55 Mb in size). The deletion was familial in one and simplex in seven individuals. The phenotype was remarkably similar and consisted of a round face with full cheeks, a high forehead, ptosis, cornea opacities, an underdeveloped alae, a short philtrum, a cupid's bow of the upper lip, down-turned corners of the mouth, micrognathia, low-set and prominent ears, and mild finger and toe anomalies (camptodactyly, syndactyly, and broadening of the first rays). Intellectual disability, hypotonia, decreased balance, sensorineural hearing loss, and unusual behavior were frequently observed. A high-resolution oligonucleotide array showed different proximal and distal breakpoints in all of the individuals. Sequencing studies in three of the individuals revealed that proximal and distal breakpoints were located in unique sequences with no apparent homology. The smallest region of overlap was a 539.7 kb interval encompassing three genes: a Zinc Finger Homeobox 4 (ZFHX4), one microRNA of unknown function, and one nonfunctional pseudogen. ZFHX4 encodes a transcription factor expressed in the adult human brain, skeletal muscle, and liver. It has been suggested as a candidate gene for congenital bilateral isolated ptosis. Our results suggest that the 8q21.11 submicroscopic deletion represents a clinically recognizable entity and that a haploinsufficient gene or genes within the minimal deletion region could underlie this syndrome.

Extraction of airway foreign bodies in adults: experience from 1987-2008.

To determine the incidence and the clinical, radiographic, and endoscopic characteristics of adult patients in our area diagnosed with tracheobronchial foreign bodies (FBs), we have performed a descriptive retrospective study analysing rigid and flexible bronchoscopies practised at our department between 1987 and 2008 in patients older than 14 years. Of the 9781 bronchoscopies performed, 32 involved cases of bronchoaspiration of FBs. The mean age of the patients was 43.81 years (S.D. 21.43); 65.6% were male and 34.4% were female. Acute or recurrent infection was the most frequent clinical presentation. Chest radiographs provided data for diagnosis in 68% of the cases. The most common FB aspirated were inorganic (pins and plastic devices 21.4%, respectively). In conclusion, we can state that in our area tracheobronchial aspiration of FBs by adults is not common. The clinical symptoms are highly variable and the FBs are usually lodged in the right bronchial tree.

Mietens-Weber syndrome: two new patients and a review.

In 1966, Mietens and Weber reported four out of six siblings from a consanguineous couple with growth failure, dislocation of the head of the radii, bilateral flexion contracture of the elbows, short ulnae and radii, bilateral corneal opacities, horizontal and rotational nystagmus, strabismus, small, pointed nose and mild to moderate mental retardation. Since then, only three other cases have been reported. We report on two new cases, a pair of female twins aged 9 years. The patients were born after an uneventful, normal pregnancy, to young and non-consanguineous parents. After birth, physical findings included horizontal nystagmus and dislocation of both elbows because of abnormally short radii and ulnae in both twins. Further clinical examinations showed moderate psychomotor delay with marked language compromise. Karyotypes were normal in both girls. A review of the literature reveals that the Mietens-Weber syndrome is an uncommon disorder with a probable autosomal recessive pattern of inheritance. To our best knowledge, including the two cases reported here, only nine cases have been observed so far. The finding of congenital nystagmus and radii dislocation in a patient with mental retardation is probably nonrandom and is highly suggestive of Mietens-Weber syndrome.

Changing prevalence, clinical features, and outcome of acute hepatitis in Spain (1982-2003).

BACKGROUND: Diagnostic and preventive measures have contributed to a change in the epidemiology of acute hepatitis. The purpose of the present paper was to assess the changing prevalence of acute hepatitis from 1982 to 2003. METHODS: Trends in the epidemiology, clinical findings, and outcome of acute viral hepatitis from 1982 to 2003 were examined. A total of 548 episodes of acute hepatitis diagnosed between 1982 and 2003, the clinical course of which was monitored up to the year 2003, were included. Annual changes as well as for the intervals 1982-1992 and 1993-2003 were compared. RESULTS: Severe infections occurred in 1.3% of cases, with a mortality of 0.6%, with progression into chronicity in 25.1%. The annual incidences of acute hepatitis and the comparative intervals 1982-1992 and 1993-2003 showed a decline of parenterally -B, delta and C virus- transmitted infections, unchanged number of cases of acute hepatitis A, an increase in the number of cases of drug-induced hepatitis, increase in median ages, and a decrease in the proportion of hepatitis in injecting drug users. Ages of patients with hepatitis A tended to increase. CONCLUSIONS: A decline of parenterally transmitted acute hepatitis was documented throughout a 22-year period, while the number of cases of hepatitis A was unchanged and that of drug-induced hepatitis increased. Evaluation of the current targeted hepatitis A vaccination approach and adequate pharmacovigilance measures are required in the near future.

Nutrición enteral vs nutrición parenteral en el paciente crítico / Enteral nutrition versus parenteral nutrition in the critical patient

Atender las alternativas terapéuticas de la nutrición tiene que convertirse en parte integral de la práctica médica. Es esencial que todos los facultativos comprendan a fondo el metabolismo de los nutrientes y el manejo nutricional, especialmente en situaciones de cuidados críticos, en los cuales la desnutrición puede estar presente desde el principio o sobrevenir con rapidez aterradora. En el presente artículo se realizan algunas consideraciones sobre las rutas de administración de los nutrientes en el paciente grave, haciendo énfasis en la nutrición mixta

Nutrición y función respiratoria / Nutrition and respiratory function

Se hace una revisión amplia acerca de la relación ya demostrada entre la desnutrición energéticoproteica y la aparición de insuficiencia respiratoria y viceversa, profundizando en el comportamiento y especificidades que existen en la insuficiencia respiratoria crónica y en la aguda , escogiendo en cada caso una enfermedad o síndrome representativo a cada entidad, además, en este trabajo se plasman la forma y las vías por lo que los pacientes con estas enfermedades pueden llegar a necesitar ventilación mecánica prolongada, su tratamiento para minimizar su respuesta al estrés y disminuir el tiempo de ventilación y destete con el apoyo nutricional como parte del tratamiento de la insuficiencia respiratoria. Se hacen cambios y recomendaciones al respecto

Nutrición enteral vs nutrición parenteral en el paciente crítico / Enteral nutrition versus parenteral nutrition in the critical patient

Atender las alternativas terapéuticas de la nutrición tiene que convertirse en parte integral de la práctica médica. Es esencial que todos los facultativos comprendan a fondo el metabolismo de los nutrientes y el manejo nutricional, especialmente en situaciones de cuidados críticos, en los cuales la desnutrición puede estar presente desde el principio o sobrevenir con rapidez aterradora. En el presente artículo se realizan algunas consideraciones sobre las rutas de administración de los nutrientes en el paciente grave, haciendo énfasis en la nutrición mixta(AU)

Nutrición y función respiratoria / Nutrition and respiratory function

Se hace una revisión amplia acerca de la relación ya demostrada entre la desnutrición energéticoproteica y la aparición de insuficiencia respiratoria y viceversa, profundizando en el comportamiento y especificidades que existen en la insuficiencia respiratoria crónica y en la aguda , escogiendo en cada caso una enfermedad o síndrome representativo a cada entidad, además, en este trabajo se plasman la forma y las vías por lo que los pacientes con estas enfermedades pueden llegar a necesitar ventilación mecánica prolongada, su tratamiento para minimizar su respuesta al estrés y disminuir el tiempo de ventilación y destete con el apoyo nutricional como parte del tratamiento de la insuficiencia respiratoria. Se hacen cambios y recomendaciones al respecto(AU)

Biomimetic organization: Octapeptide self-assembly into nanotubes of viral capsid-like dimension.

The controlled self-assembly of complex molecules into well defined hierarchical structures is a promising route for fabricating nanostructures. These nanoscale structures can be realized by naturally occurring proteins such as tobacco mosaic virus, capsid proteins, tubulin, actin, etc. Here, we report a simple alternative method based on self-assembling nanotubes formed by a synthetic therapeutic octapeptide, Lanreotide in water. We used a multidisciplinary approach involving optical and electron microscopies, vibrational spectroscopies, and small and wide angle x-ray scattering to elucidate the hierarchy of structures exhibited by this system. The results revealed the hexagonal packing of nanotubes, and high degree of monodispersity in the tube diameter (244 A) and wall thickness (approximately equal to 18 A). Moreover, the diameter is tunable by suitable modifications in the molecular structure. The self-assembly of the nanotubes occurs through the association of beta-sheets driven by amphiphilicity and a systematic aromatic/aliphatic side chain segregation. This original and simple system is a unique example for the study of complex self-assembling processes generated by de novo molecules or amyloid peptides.

Evaluación del lipidograma, fibrinógeno y apolipoproteínas A-I y B en pacientes después de un infarto / Evaluation of the lipidogram, fibnrinogen and apolipoproteins A-I and B in patients after infarction

Se realizó esta investigación para estudiar las alteraciones de los lípidos en 35 pacientes que tenían entre 3 y 6 meses de evolución de un infarto del miocardio; se cuantificaron las fracciones lipídicas, las apolipoproteínas A-I y B y el fibrinógeno, que son los principales factores lipídicos predictivos del riesgo coronario. Se procesaron en el laboratorio de bioquímica del Hospital Clinicoquirúrgico Hermanos Ameijeiras, mediante el programa de Excel y se obtuvieron los resultados siguientes: los niveles del colesterol, de la HDL-C y del índice COL/HDL-COL, estuvieron aumentados en la mitad de los infartados, los triglicéridos y la VLDL estuvieron aumentados en la tercera parte de ellos. La HDL-C y la Apo A-I, estaban disminuidas en la tercera parte de los infartados, sin embargo la Apo-B se incrementó en más de la mitad de los mismos. El fibrinógeno solo se elevó en la cuarta parte de esos pacientes.

Evaluación del lipidograma, fibrinógeno y apolipoproteínas A-I y B en pacientes después de un infarto / Evaluation of the lipidogram, fibnrinogen and apolipoproteins A-I and B in patients after infarction

Se realizó esta investigación para estudiar las alteraciones de los lípidos en 35 pacientes que tenían entre 3 y 6 meses de evolución de un infarto del miocardio; se cuantificaron las fracciones lipídicas, las apolipoproteínas A-I y B y el fibrinógeno, que son los principales factores lipídicos predictivos del riesgo coronario. Se procesaron en el laboratorio de bioquímica del Hospital Clinicoquirúrgico "Hermanos Ameijeiras," mediante el programa de Excel y se obtuvieron los resultados siguientes: los niveles del colesterol, de la HDL-C y del índice COL/HDL-COL, estuvieron aumentados en la mitad de los infartados, los triglicéridos y la VLDL estuvieron aumentados en la tercera parte de ellos. La HDL-C y la Apo A-I, estaban disminuidas en la tercera parte de los infartados, sin embargo la Apo-B se incrementó en más de la mitad de los mismos. El fibrinógeno solo se elevó en la cuarta parte de esos pacientes(AU)