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1.
Aging Cell ; : e14197, 2024 Jun 02.
Article in English | MEDLINE | ID: mdl-38825882

ABSTRACT

Aortic stiffening is an inevitable manifestation of chronological aging, yet the mechano-molecular programs that orchestrate region- and layer-specific adaptations along the length and through the wall of the aorta are incompletely defined. Here, we show that the decline in passive cyclic distensibility is more pronounced in the ascending thoracic aorta (ATA) compared to distal segments of the aorta and that collagen content increases in both the medial and adventitial compartments of the ATA during aging. The single-cell RNA sequencing of aged ATA tissues reveals altered cellular senescence, remodeling, and inflammatory responses accompanied by enrichment of T-lymphocytes and rarefaction of vascular smooth muscle cells, compared to young samples. T lymphocyte clusters accumulate in the adventitia, while the activation of mechanosensitive Piezo-1 enhances vasoconstriction and contributes to the overall functional decline of ATA tissues. These results portray the immuno-mechanical aging of the ATA as a process that culminates in a stiffer conduit permissive to the accrual of multi-gerogenic signals priming to disease development.

2.
Biomed Mater Eng ; 35(4): 365-375, 2024.
Article in English | MEDLINE | ID: mdl-38578877

ABSTRACT

BACKGROUND: ß-tricalcium phosphate (ß-TCP) has been successfully utilized as a 3D printed ceramic scaffold in the repair of non-healing bone defects; however, it requires the addition of growth factors to augment its regenerative capacity. Synthetic bone mineral (SBM) is a novel and extrudable carbonate hydroxyapatite with ionic substitutions known to facilitate bone healing. However, its efficacy as a 3D printed scaffold for hard tissue defect repair has not been explored. OBJECTIVE: To evaluate the biocompatibility and cell viability of human osteoprecursor (hOP) cells seeded on 3D printed SBM scaffolds via in vitro analysis. METHODS: SBM and ß-TCP scaffolds were fabricated via 3D printing and sintered at various temperatures. Scaffolds were then subject to qualitative cytotoxicity testing and cell proliferation experiments utilizing (hOP) cells. RESULTS: SBM scaffolds sintered at lower temperatures (600 °C and 700 °C) induced greater levels of acute cellular stress. At higher sintering temperatures (1100 °C), SBM scaffolds showed inferior cellular viability relative to ß-TCP scaffolds sintered to the same temperature (1100 °C). However, qualitative analysis suggested that ß-TCP presented no evidence of morphological change, while SBM 1100 °C showed few instances of acute cellular stress. CONCLUSION: Results demonstrate SBM may be a promising alternative to ß-TCP for potential applications in bone tissue engineering.


Subject(s)
Calcium Phosphates , Cell Proliferation , Cell Survival , Materials Testing , Printing, Three-Dimensional , Tissue Scaffolds , Calcium Phosphates/chemistry , Calcium Phosphates/pharmacology , Tissue Scaffolds/chemistry , Humans , Cell Survival/drug effects , Cell Proliferation/drug effects , Biocompatible Materials/chemistry , Biocompatible Materials/pharmacology , Bone Substitutes/chemistry , Bone Substitutes/pharmacology , Tissue Engineering/methods , Cells, Cultured
3.
Ecancermedicalscience ; 18: 1685, 2024.
Article in English | MEDLINE | ID: mdl-38566759

ABSTRACT

Introduction: The incidence of squamous carcinoma of the oropharynx (OPSCC) has presented an increase worldwide, a fact that occurs along with a phenomenon of epidemiological transition, whose pathogenesis is linked to human papilloma virus (HPV) in a significant part of the cases. Published evidence at the Latin American level is scarce. The present study aims to evaluate the epidemiological and clinical characteristics of patients with oropharyngeal cancer treated in a public oncology reference centre in Chile. Methodology: A cross-sectional study was carried out. Patients with histological confirmation of OPSCC aged 18 years or older, referred to the National Cancer Institute of Chile between 2012 and 2023 were included. The association with HPV was determined by immunohistochemistry for p16. Results: 178 patients were analysed, most of them in locoregionally advanced stages involving the palatine tonsil. Seventy-seven percent were male, with a median age of 60 years. Sixty-seven percent of patients were positive for p16, with a progressive increase to 85% in the last 2 years of the study. The p16(+) patients were younger and had fewer classical risk factors. Primary treatment was radiotherapy in 94% of patients. Conclusion: The epidemiological profile of patients with OPSCC treated in a Chilean public oncology referral centre reflects the epidemiological transition observed in developed countries. This change justifies the need to adapt health policies and conduct research that considers the characteristics of this new epidemiological profile.

4.
Sci Signal ; 16(789): eadg5470, 2023 06 13.
Article in English | MEDLINE | ID: mdl-37311033

ABSTRACT

Clinical presentations that develop in response to infection result from interactions between the pathogen and host defenses. SARS-CoV-2, the etiologic agent of COVID-19, directly antagonizes these defenses, leading to delayed immune engagement in the lungs that materializes only as cells succumb to infection and are phagocytosed. Leveraging the golden hamster model of COVID-19, we sought to understand the dynamics between SARS-CoV-2 infection in the airways and the systemic host response that ensues. We found that early SARS-CoV-2 replication was largely confined to the respiratory tract and olfactory system and, to a lesser extent, the heart and gastrointestinal tract but generated a host antiviral response in every organ as a result of circulating type I and III interferons. Moreover, we showed that diminishing the response in the airways by immunosuppression or administration of SARS-CoV-2 intravenously resulted in decreased immune priming, viremia, and increased viral tropism, including productive infection of the liver, kidney, spleen, and brain. Last, we showed that productive infection of the airways was required for mounting an effective and system-wide antiviral response. Together, these data illustrate how COVID-19 can result in diverse clinical presentations in which disease outcomes can be a by-product of the speed and strength of immune engagement. These studies provide additional evidence for the mechanistic basis of the diverse clinical presentations of COVID-19 and highlight the ability of the respiratory tract to generate a systemic immune defense after pathogen recognition.


Subject(s)
COVID-19 , Animals , Cricetinae , SARS-CoV-2 , Viremia , Antiviral Agents , Brain
5.
Nutrition ; 111: 112055, 2023 07.
Article in English | MEDLINE | ID: mdl-37182400

ABSTRACT

OBJECTIVES: Obesity is characterized by local and systemic low-grade inflammatory responses. Adipose tissue macrophages (ATM) play decisive roles in inflammation, insulin signaling, and various metabolic dysfunctions. Diets enriched with ω-3 polyunsaturated fatty acids (PUFAs) have been shown to improve health and mitigate pathologic conditions. However, the effects of ω-3 PUFA on adipose tissue inflammation, ATM number, and phenotype are poorly defined in human obesity. The aim of this study was to examine differences in expression of metabolic-inflammatory markers in omental, mesenteric, and subcutaneous fat depots of obese women supplemented with ω-3 PUFAs for 4 wk compared with a low-calorie diet before bariatric surgery. METHODS: In a randomized controlled trial, inflammatory markers in the abdominal adipose tissue and the systemic response in obese women were studied. Patients were treated with a 2-wk low-calorie diet (LCD) or a 4-wk ω-3 PUFA-enriched diet (920 mg eicosapentaenoic acid, 760 mg docosahexaenoic acid daily) before laparoscopic bypass surgery. Omental, mesenteric, and subcutaneous adipose tissue biopsies were collected during surgery and analyzed for quantity and phenotype of ATMs, and profiled for adipokines, cytokines, and signal transduction molecules. RESULTS: The chronic inflammatory state characterized by ATM markers was mostly improved by ω-3 PUFAs in visceral adipose tissue. We observed a decreased expression of CD45, CCL2, and CD68, indicating a lower inflammatory state. In patients with type 2 diabetes, ω-3 PUFAs lowered the expression of Netrin-1. CONCLUSIONS: Compared with an LCD, a diet enriched with ω-3 PUFAs influences the inflammatory state in different adipose tissue depots, by affecting markers of adipose tissue inflammation, macrophage phenotype, and retention. However, this was not reflected in clinical parameters such as insulin resistance and inflammatory cytokines. Subcutaneous adipose tissue and visceral adipose tissue have different responses to an LCD or a ω-3 PUFA-enriched diet. The presence of diabetes modifies the expression of inflammatory markers.


Subject(s)
Diabetes Mellitus, Type 2 , Fatty Acids, Omega-3 , Obesity, Morbid , Humans , Female , Diabetes Mellitus, Type 2/drug therapy , Obesity, Morbid/surgery , Adipose Tissue/metabolism , Fatty Acids, Omega-3/pharmacology , Fatty Acids, Omega-3/therapeutic use , Inflammation/metabolism , Dietary Supplements , Cytokines/metabolism
6.
Arterioscler Thromb Vasc Biol ; 42(10): 1244-1253, 2022 10.
Article in English | MEDLINE | ID: mdl-36073351

ABSTRACT

BACKGROUND: MT1-MMP (membrane-type 1 matrix metalloproteinase, MMP-14) is a transmembrane-anchored protein with an extracellular proteinase domain and a cytoplasmic tail devoid of proteolytic functions but capable of mediating intracellular signaling that regulates tissue homeostasis. MT1-MMP extracellular proteolytic activity has been shown to regulate pathological remodeling in aortic aneurysm and atherosclerosis. However, the role of the nonproteolytic intracellular domain of MT1-MMP in vascular remodeling in abdominal aortic aneurysms (AAA) is unknown. METHODS: We generated a mutant mouse that harbors a point mutation (Y573D) in the MT1-MMP cytoplasmic domain that abrogates the MT1-MMP signaling function without affecting its proteolytic activity. These mice and their control wild-type littermates were subjected to experimental AAA modeled by angiotensin II infusion combined with PCSK9 (proprotein convertase subtilisin/kexin type 9) overexpression and high-cholesterol feeding. RESULTS: The mutant mice developed more severe AAA than the control mice, with concomitant generation of intraaneurysmal atherosclerotic lesions and dramatically increased macrophage infiltration and elastin degradation. Aortic lesion-associated and bone marrow-derived macrophages from the mutant mice exhibited an enhanced inflammatory state and expressed elevated levels of proinflammatory Netrin-1, a protein previously demonstrated to promote both atherosclerosis and AAA. CONCLUSIONS: Our findings show that the cytoplasmic domain of MT1-MMP safeguards from AAA and atherosclerotic plaque development through a proteolysis-independent signaling mechanism associated with Netrin-1 expression. This unexpected function of MT1-MMP unveils a novel mechanism of synchronous onset of AAA and atherogenesis and highlights its importance in the control of vascular wall homeostasis.


Subject(s)
Aortic Aneurysm, Abdominal , Atherosclerosis , Angiotensin II , Animals , Aortic Aneurysm, Abdominal/chemically induced , Aortic Aneurysm, Abdominal/genetics , Aortic Aneurysm, Abdominal/metabolism , Atherosclerosis/genetics , Cholesterol , Elastin/metabolism , Matrix Metalloproteinase 14/metabolism , Mice , Netrin-1 , Proprotein Convertase 9 , Subtilisins
7.
Nat Commun ; 13(1): 512, 2022 01 26.
Article in English | MEDLINE | ID: mdl-35082286

ABSTRACT

Mechanical overload of the vascular wall is a pathological hallmark of life-threatening abdominal aortic aneurysms (AAA). However, how this mechanical stress resonates at the unicellular level of vascular smooth muscle cells (VSMC) is undefined. Here we show defective mechano-phenotype signatures of VSMC in AAA measured with ultrasound tweezers-based micromechanical system and single-cell RNA sequencing technique. Theoretical modelling predicts that cytoskeleton alterations fuel cell membrane tension of VSMC, thereby modulating their mechanoallostatic responses which are validated by live micromechanical measurements. Mechanistically, VSMC gradually adopt a mechanically solid-like state by upregulating cytoskeleton crosslinker, α-actinin2, in the presence of AAA-promoting signal, Netrin-1, thereby directly powering the activity of mechanosensory ion channel Piezo1. Inhibition of Piezo1 prevents mice from developing AAA by alleviating pathological vascular remodeling. Our findings demonstrate that deviations of mechanosensation behaviors of VSMC is detrimental for AAA and identifies Piezo1 as a novel culprit of mechanically fatigued aorta in AAA.


Subject(s)
Aortic Aneurysm/metabolism , Ion Channels/metabolism , Muscle, Smooth, Vascular/metabolism , Myocytes, Smooth Muscle/metabolism , Aneurysm , Animals , Aorta, Abdominal , Aortic Aneurysm/pathology , Aortic Aneurysm, Abdominal/metabolism , Biomedical Engineering , Biophysical Phenomena , Disease Models, Animal , Ion Channels/genetics , Male , Mice , Mice, Inbred C57BL , Netrin-1/metabolism , Phenotype , Stress, Mechanical , Vascular Remodeling
8.
Front Cardiovasc Med ; 9: 1021934, 2022.
Article in English | MEDLINE | ID: mdl-36698932

ABSTRACT

Cumulative evidence has shown that mechanical and frictional forces exert distinct effects in the multi-cellular aortic layers and play a significant role in the development of abdominal aortic aneurysms (AAA). These mechanical cues collectively trigger signaling cascades relying on mechanosensory cellular hubs that regulate vascular remodeling programs leading to the exaggerated degradation of the extracellular matrix (ECM), culminating in lethal aortic rupture. In this review, we provide an update and summarize the current understanding of the mechanotransduction networks in different cell types during AAA development. We focus on different mechanosensors and stressors that accumulate in the AAA sac and the mechanotransduction cascades that contribute to inflammation, oxidative stress, remodeling, and ECM degradation. We provide perspectives on manipulating this mechano-machinery as a new direction for future research in AAA.

9.
Dimens Crit Care Nurs ; 39(3): 145-154, 2020.
Article in English | MEDLINE | ID: mdl-32251163

ABSTRACT

BACKGROUND: Older adults who required mechanical ventilation while in an intensive care unit (ICU) require adequate sleep throughout recovery from critical illness. Poor post-ICU sleep quality may contribute to worsening impairments in physical, cognitive, or psychological status after critical illness, known as post-ICU syndrome. Previous research has evaluated post-ICU sleep with qualitative or mixed methods (eg, interviews, questionnaires). We proposed measurement of sleep with actigraphy. We hypothesized that nighttime sleep is associated with length of stay (LOS). OBJECTIVES: The aims of this study were to describe sleep quality of previously mechanically ventilated older adults recently transferred out of ICU and explore relationships between sleep duration and LOS outcomes. METHODS: We enrolled 30 older adults, 65 years and older, within 24 to 48 hours after ICU discharge. We collected actigraphy data on post-ICU sleep duration (total sleep time [TST]) and sleep fragmentation (wake time after sleep onset) over 2 consecutive nights. We explored associations between TST and LOS (in days) outcomes using multivariate regression. RESULTS: Subjects' mean TST was 7.55 ± 2.52 hours, and mean wake time after sleep onset was 2.26 ± 0.17 hours. In exploratory regression analyses, longer ICU LOS (ß = 0.543, P < .001) and longer length of mechanical ventilation (ß = 0.420, P = .028) were associated with greater post-ICU TST, after adjusting for potential confounding factors. Total sleep time was prospectively associated with total hospital LOS (ß = 0.535, P < .001). DISCUSSION: Older ICU survivors demonstrate greater sleep duration and worse sleep fragmentation. Poor sleep may contribute to longer LOS, secondary to post-ICU syndrome and sequelae. We recommend nursing interventions to promote sleep consolidation throughout transitions of care in the acute post-ICU recovery period.


Subject(s)
Critical Illness , Intensive Care Units , Sleep , Aged , Humans , Length of Stay , Survivors
10.
Ecol Evol ; 8(11): 5741-5751, 2018 Jun.
Article in English | MEDLINE | ID: mdl-29938089

ABSTRACT

Heterozygosity has been positively associated with fitness and population survival. However, the relationship between heterozygosity and adaptive phenotypic plasticity (i.e., plasticity which results in fitness homeostasis or improvement in changing environments) is unclear and has been poorly explored in seaweeds. In this study, we explored this relationship in the clonal red seaweed, Gracilaria chilensis by conducting three growth rate plasticity experiments under contrasting salinity conditions and by measuring heterozygosity with five microsatellite DNA markers. Firstly, we compared growth rate plasticity between the haploid and diploid phases. Secondly, we compared growth rate plasticity between diploids with different numbers of heterozygous loci. Finally, we compared growth rate plasticity between diploid plants from two populations that are expected to exhibit significant differences in heterozygosity. We found that, (i) diploids displayed a higher growth rate and lower growth rate plasticity than haploids, (ii) diploids with a higher number of heterozygous loci displayed lower growth rate plasticity than those exhibiting less heterozygosity, and (iii) diploid sporophytes from the population with higher heterozygosity displayed lower growth rate plasticity than those with lower heterozygosity. Accordingly, this study suggests that heterozygosity is inversely related to growth rate plasticity in G. chilensis. However, better genetic tools in seaweeds are required for a more definitive conclusion on the relationship between heterozygosity and phenotypic plasticity.

11.
Am J Respir Crit Care Med ; 188(7): 831-41, 2013 Oct 01.
Article in English | MEDLINE | ID: mdl-23924348

ABSTRACT

RATIONALE: Alveolar transforming growth factor (TGF)-ß1 signaling and expression of TGF-ß1 target genes are increased in patients with idiopathic pulmonary fibrosis (IPF) and in animal models of pulmonary fibrosis. Internalization and degradation of TGF-ß receptor TßRI inhibits TGF-ß signaling and could attenuate development of experimental lung fibrosis. OBJECTIVES: To demonstrate that after experimental lung injury, human syndecan-2 confers antifibrotic effects by inhibiting TGF-ß1 signaling in alveolar epithelial cells. METHODS: Microarray assays were performed to identify genes differentially expressed in alveolar macrophages of patients with IPF versus control subjects. Transgenic mice that constitutively overexpress human syndecan-2 in macrophages were developed to test the antifibrotic properties of syndecan-2. In vitro assays were performed to determine syndecan-2-dependent changes in epithelial cell TGF-ß1 signaling, TGF-ß1, and TßRI internalization and apoptosis. Wild-type mice were treated with recombinant human syndecan-2 during the fibrotic phase of bleomycin-induced lung injury. MEASUREMENTS AND MAIN RESULTS: We observed significant increases in alveolar macrophage syndecan-2 levels in patients with IPF. Macrophage-specific overexpression of human syndecan-2 in transgenic mice conferred antifibrotic effects after lung injury by inhibiting TGF-ß1 signaling and downstream expression of TGF-ß1 target genes, reducing extracellular matrix production and alveolar epithelial cell apoptosis. In vitro, syndecan-2 promoted caveolin-1-dependent internalization of TGF-ß1 and TßRI in alveolar epithelial cells, which inhibited TGF-ß1 signaling and epithelial cell apoptosis. Therapeutic administration of human syndecan-2 abrogated lung fibrosis in mice. CONCLUSIONS: Alveolar macrophage syndecan-2 exerts antifibrotic effects by promoting caveolin-1-dependent TGF-ß1 and TßRI internalization and inhibiting TGF-ß1 signaling in alveolar epithelial cells. Hence, molecules that facilitate TßRI degradation via endocytosis represent potential therapies for pulmonary fibrosis.


Subject(s)
Idiopathic Pulmonary Fibrosis/chemically induced , Macrophages, Alveolar/drug effects , Syndecan-2/therapeutic use , Transforming Growth Factor beta1/drug effects , Animals , Apoptosis , Bleomycin/administration & dosage , Bronchoalveolar Lavage , Caveolin 1/drug effects , Disease Models, Animal , Gene Expression Profiling , Genetic Markers , Humans , Hydroxyproline/analysis , Idiopathic Pulmonary Fibrosis/drug therapy , Idiopathic Pulmonary Fibrosis/genetics , In Vitro Techniques , Mice , Mice, Transgenic , Signal Transduction , Syndecan-2/physiology , Tissue Array Analysis , Transforming Growth Factor beta1/genetics , Transforming Growth Factor beta1/physiology , Up-Regulation/drug effects , Up-Regulation/physiology
12.
Vet Surg ; 42(1): 60-6, 2013 Jan.
Article in English | MEDLINE | ID: mdl-23110434

ABSTRACT

OBJECTIVES: To report outcomes and complications of dog and cat fractures treated with the polyaxial locking plate system (PAX). STUDY DESIGN: Case series. ANIMALS: Dogs (n = 60) and 2 cats. METHODS: Medical records (December 2009-March 2011) of dogs and cats with fractures treated with the PAX system were reviewed. Cases with adequate follow-up to document a functional union, had surgery performed by an author, had no prior treatment of the fracture(s), and with complete operative records were included. Signalment, body weight, bone(s) fractured, area of bone fractured, fracture classification, concurrent orthopedic injuries, complications, time to functional union, if minimally invasive plate osteosynthesis (MIPO) techniques were used, plate size, number of plates, bone graft use, and ancillary methods of fixation were recorded. Additionally, fracture segment: plate length, screw, number of plate holes, number of empty screw holes overlying/adjacent to the fractures, number of cortices engaged above/below the fracture was evaluated. Variables were evaluated statistically for effect on complications and functional union. RESULTS: Sixty-two animals were included. Mean time to functional union was 7.1 weeks. Complications occurred in 12 animals (19%) and plate failure occurred in 3 (5%). Statistically significant factors that affected time to functional union were the presence of multiple injuries and age. Those associated with complications were double plates and number of cortices engaged above and below fractures. CONCLUSIONS: The PAX system allows for multidirectional screw insertion with an overall complication rate and time to functional union similar to other fracture repair implant systems.


Subject(s)
Bone Plates/veterinary , Cat Diseases/surgery , Dog Diseases/surgery , Fracture Fixation, Internal/veterinary , Fractures, Bone/veterinary , Animals , Cats , Dogs , Equipment Failure , Female , Fracture Fixation, Internal/instrumentation , Fracture Fixation, Internal/methods , Fracture Healing/physiology , Fractures, Bone/surgery , Male , Postoperative Complications/veterinary , Treatment Outcome
13.
Chemistry ; 14(32): 10036-46, 2008.
Article in English | MEDLINE | ID: mdl-18803205

ABSTRACT

5- and 6-Uracilmethylphosphonate (5Umpa(2-) and 6Umpa(2-)) as acyclic nucleotide analogues are in the focus of anticancer and antiviral research. Connected metabolic reactions involve metal ions; therefore, we determined the stability constants of M(Umpa) complexes (M(2+)=Mg(2+), Ca(2+), Mn(2+), Co(2+), Cu(2+), Zn(2+), or Cd(2+)). However, the coordination chemistry of these Umpa species is also of interest in its own right, for example, the phosphonate-coordinated M(2+) interacts with (C4)O to form seven-membered chelates with 5Umpa(2-), thus leading to intramolecular equilibria between open (op) and closed (cl) isomers. No such interaction occurs with 6Umpa(2-). In both M(Umpa) series deprotonation of the uracil residue leads to the formation of M(Umpa-H)(-) complexes at higher pH values. Their stability was evaluated by taking into account the fact that the uracilate residue can bind metal ions to give M(2)(Umpa-H)(+) species. This has led to two further important insights: 1) In M(6Umpa-H)-cl the H(+) is released from (N1)H, giving rise to six-membered chelates (degrees of formation of ca. 90 to 99.9 % with Mn(2+), Co(2+), Cu(2+), Zn(2+), or Cd(2+)). 2) In M(5Umpa-H)$-cl the (N3)H is deprotonated, leading to a higher stability of the seven-membered chelates involving (C4)O (even Mg(2+) and Ca(2+) chelates are formed up to approximately 50 %). In both instances the M(Umpa-H)-op species led to the formation of M(2)(Umpa-H)(+) complexes that have one M(2+) at the phosphonate and one at the (N3)(-) (plus carbonyl) site; this proves that nucleotides can bind metal ions independently at the phosphate and the nucleobase residues. X-ray structural analyses of 6Umpa derivatives show that in diesters the phosphonate group is turned away from the uracil residue, whereas in H(2)(6Umpa) the orientation is such that upon deprotonation in aqueous solution a strong hydrogen bond is formed between (N1)H and PO(3) (2-); replacement of the hydro gen with M(2+) gives the M(6Umpa-H)-cl chelates mentioned.


Subject(s)
Antineoplastic Agents/chemistry , Esters/chemistry , Uracil/analogs & derivatives , Crystallography, X-Ray , Drug Stability , Models, Molecular , Thermodynamics , Uracil/chemistry , Water/chemistry
14.
Rev Neurol ; 38(11): 1027-31, 2004.
Article in Spanish | MEDLINE | ID: mdl-15202079

ABSTRACT

INTRODUCTION: Cornelia de Lange syndrome is a rare polimalformative association that shows an expresivity of unknown etiology being most cases sporadic. The diagnosis is clinical. CASE REPORTS: Two female newborns without remarkable antecedents affected of intrauterine growth retardation were born by cesarean section due to risk of perinatal asphyxia. Both cases had a harmonic hypotrophy and a very similar clinical phenotype, especially the craniofacial anomalies, with typical facial features and limb alterations. Besides, the evolution confirms the diagnosis because in both cases the delay of somatic development and microcephaly, as well as moderate-severe psychomotor delay and behavior alterations were present. Likewise, both cases have developed typical medical complications of the condition. The complementary study showed in both patients an important dysfunction of the auditory ways and a atrial septal defect. They were soon included in sensory and motor program of rehabilitation. CONCLUSION: We present two cases of Cornelia de Lange syndrome of neonatal diagnosis that we consider of interest due to the importance of an early recognition of the clinical condition for the family advice and the medical aid and for an appropriate development.


Subject(s)
De Lange Syndrome , De Lange Syndrome/diagnosis , De Lange Syndrome/pathology , De Lange Syndrome/physiopathology , De Lange Syndrome/rehabilitation , Female , Humans , Infant , Infant, Newborn , Male , Pregnancy , Treatment Outcome
15.
Rev. neurol. (Ed. impr.) ; 38(11): 1027-1031, 1 jun., 2004. ilus, graf, tab
Article in Es | IBECS | ID: ibc-33786

ABSTRACT

Introducción. El síndrome de Cornelia de Lange (SCL) consiste en un cuadro polimalformativo poco frecuente que presenta una amplia expresividad, de etiología todavía desconocida; la mayoría de los casos son esporádicos, y su diagnóstico es fundamentalmente clínico. Casos clínicos. Se trata de dos mujeres recién nacidas, sin antecedentes familiares de interés, con retraso de crecimiento intrauterino, nacidas por cesárea por pérdida del bienestar fetal. Ambas presentaban una hipotrofia armónica y un fenotipo clínico muy similar, en el que resaltaban las anomalías craneofaciales y facies características y las alteraciones de las extremidades. Además, su evolución confirma el diagnóstico, al comprobarse en ambas el retraso del desarrollo somático y microcefalia, así como retraso psicomotor moderado-grave y alteraciones del comportamiento. Asimismo, las dos han desarrollado complicaciones médicas características de la afección. El estudio complementario puso de manifiesto en ambas pacientes una disfunción marcada de las vías auditivas y una comunicación interauricular tipo ostium secundum. Se incluyeron precozmente en un programa de rehabilitación motora y sensorial. Conclusión. Se trata de dos observaciones de SCL, con diagnóstico neonatal, que consideramos de interés dada la importancia que tiene para el clínico el reconocimiento temprano de la afección, para el asesoramiento familiar y la ayuda médica y de desarrollo apropiada (AU)


Introduction. Cornelia de Lange syndrome is a rare polimalformative association that shows an expresivity of unknown etiology being most cases sporadic. The diagnosis is clinical. Case reports. Two female newborns without remarkable antecedents affected of intrauterine growth retardation were born by cesarean section due to risk of perinatal asphyxia. Both cases had a harmonic hypotrophy and a very similar clinical phenotype, especially the craniofacial anomalies, with typical facial features and limb alterations. Besides, the evolution confirms the diagnosis because in both cases the delay of somatic development and microcephaly, as well as moderate-severe psychomotor delay and behavior alterations were present. Likewise, both cases have developed typical medical complications of the condition. The complementary study showed in both patients an important dysfunction of the auditory ways and a atrial septal defect. They were soon included in sensory and motor program of rehabilitation. Conclusion. We present two cases of Cornelia de Lange syndrome of neonatal diagnosis that we consider of interest due to the importance of an early recognition of the clinical condition for the family advice and the medical aid and for an appropriate development (AU)


Subject(s)
Humans , Female , Pregnancy , Male , Infant, Newborn , Infant , De Lange Syndrome , Treatment Outcome
16.
Health Care Women Int ; 22(6): 569-83, 2001 Sep.
Article in English | MEDLINE | ID: mdl-12141848

ABSTRACT

We compared the effects of lecture-style (L) and interactive problem-based (I) educational programs on knowledge, attitude, and practices (KAP) of traditional birth attendants in the Philippines. Participants in two cities were randomized to L and I teaching groups and completed a questionnaire pre-, immediately post-, and 6 months after education. Mothers reported practices of the attendants. There was significant improvement in mean knowledge scores (L 16.8 to 17.9 and I 16.4 to 19.3) in group I. Group I scores continued to improve 6 months later. Attitude scores significantly improved in both groups and decreased 6 months later, indicating a need for reinforcement. Certain undesirable practices such as late cord clamping and holding the baby upside down following birth were changed in both groups. Actual practices reported by mothers were carried out less frequently than indicated by providers, indicating a need for further education and possibly provision of adequate resources. Interactive (I) learning is a preferred method for education of traditional birth attendants.


Subject(s)
Midwifery/education , Teaching/methods , Female , Health Knowledge, Attitudes, Practice , Humans , Male , Middle Aged , Philippines , Pregnancy , Problem-Based Learning
17.
Otolaryngol Head Neck Surg ; 122(5): 748-51, 2000 May.
Article in English | MEDLINE | ID: mdl-10793359

ABSTRACT

OBJECTIVE: The goal of this study was to compare the hearing results obtained through different hearing-restoration techniques in open-cavity mastoidectomy. METHODS AND MATERIAL: A total of 116 ears operated on during the second stage of open mastoidectomy were studied. The hearing gain was registered as the difference between preoperative and 1-year postoperative conversational frequency means (500, 1000, 2000 Hz). High-pitched frequencies (4000 Hz) were used equally. Two groups of studies were carried out: in one study the stapes was intact, and in the other the stapes arch was absent. The columella techniques we examined, from a hearing point of view, are total and partial ossicular replacement prostheses, ossiculoplasty, cartilage with or without perichondrium, and the myringostapediopexy. RESULTS AND CONCLUSIONS: In the group of patients in whom the stapes was intact, the differences in high-pitched frequencies found between the different techniques were negligible, but the differences were quite significant in conversational frequencies, where the partial ossicular replacement prosthesis turned out to be the technique with the worst results. In ears in which only the footplate was present, the total ossicular replacement prosthesis gave better results than any other technique, both in conversational frequencies and in 4000-Hz frequency.


Subject(s)
Hearing , Mastoid/surgery , Ossicular Replacement , Adult , Female , Humans , Male , Middle Aged , Otologic Surgical Procedures/methods , Reoperation
18.
Acta Otorrinolaringol Esp ; 49(5): 346-51, 1998.
Article in Spanish | MEDLINE | ID: mdl-9717321

ABSTRACT

UNLABELLED: The controversy regarding the best procedure for treating middle ear cholesteatoma has lasted over 100 years. This paper discusses our current methods for dealing with cholesteatoma, always through external ear or transmeatal mastoidectomy. We present the results of three years of follow-up. MATERIAL AND METHODS: A prospective study was made of 215 ears operated for cholesteatoma using a transcanal approach with one of three techniques: "on demand" DAA mastoidectomy, modified radical mastoidectomy, and radical mastoidectomy with obliteration. Three parameters were used to evaluate results: stability of the mastoid cavity, integrity of the neotympanum, and evolution of hearing. RESULTS: The rate of cholesteatoma recurrence in ears operated with these techniques was much lower than that found in canal-wall-up techniques. Only 3 of the 215 cases (1.4%) remained unstable due to different causes three years after surgery. DISCUSSION AND CONCLUSIONS: Due to the high rate of cholesteatoma recurrence, canal-wall-up mastoidectomy has been abandoned in our clinic. Open techniques using a transmeatal approach, with or without obliteration, and the so-called "on demand" mastoidectomy, have yielded more stable results, although postoperative care is more critical.


Subject(s)
Cholesteatoma, Middle Ear/surgery , Mastoid/surgery , Otolaryngology/methods , Evaluation Studies as Topic , Follow-Up Studies , Humans , Postoperative Complications , Prospective Studies , Recurrence
19.
Acta Otorrinolaringol Esp ; 48(7): 529-32, 1997 Oct.
Article in Spanish | MEDLINE | ID: mdl-9489153

ABSTRACT

We perform a comparative study on the results obtained through three stapedectomy techniques. The hearing gain was evaluated in 107 ears with total footplate removal, Shea prosthesis and connective tissue graft, in 81 ears with particular footplate removal, the same prosthesis, and no tissue graft, and in 66 ears with stapedectomy. The differences between the three groups in the air-bone gap closure or postoperative complications were not statistically significant. We conclude that results depend more on the surgeon than on the technique.


Subject(s)
Stapes Surgery/methods , Adult , Female , Humans , Male , Retrospective Studies
20.
Acta Otorrinolaringol Esp ; 48(8): 605-8, 1997.
Article in Spanish | MEDLINE | ID: mdl-9528131

ABSTRACT

The obliteration of a large or irregular mastoidectomy cavities with hard-to-control areas is a common problem for ENT surgeons. Numerous obliteration techniques have been proposed in the last 50 years. We report our experience of obliteration of mastoid cavities in 74 ears using autogenous mastoid cortical bone chips and rib cartilage. Our procedure, a partial obliteration with meatoplasty, has yielded good results. Almost 92% of these ears were dry three years after surgery. There were no cases of recurrent cholesteatoma between bone chips.


Subject(s)
Mastoid/surgery , Cartilage/surgery , Follow-Up Studies , Humans , Mastoid/pathology , Prospective Studies , Ribs/surgery
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