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Background: Tuberous sclerosis complex is a genetic neurocutaneous autosomal dominant syndrome, characterized by the development of multiple benign tumors (hamartomas) affecting various systems. Heart-benign tumors that result from the complex are called cardiac rhabdomyomas. Unlike hamartomas that occur in other organs, cardiac rhabdomyomas are most prevalent in infants and very young children with tuberous sclerosis complex. We present a case of a young adult with tuberous sclerosis who had an unusually late diagnosis of cardiac rhabdomyomas. Case report: A 22-year-old male patient of Afro-descendant, diagnosed with tuberous sclerosis complex in childhood, presented with refractory epilepsy and was treated only with lacosamide. The patient came to medical consultation due to a recent history of episodic, persistent chest pain in the sternal region, associated with physical effort. Echocardiography revealed a non-dilated left ventricle, with several rounded masses of high echogenicity without pedicles at the apical level, the largest measuring 14 × 11 mm, consistent with cardiac rhabdomyomas. Conclusion: Cardiac rhabdomyomas rarely develop in adulthood for individuals with tuberous sclerosis. These late-onset cases can exhibit various symptoms, from simple to complex presentations. Regular clinical checkups are essential for adults with tuberous sclerosis complex.
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Background: Acute cardiac complications post-chemotherapy is rare. Stress cardiomyopathy, one of these complications, should be considered in differential diagnoses as its symptoms closely resemble those of acute myocardial infarction and can lead to mortality. Objective: The objective of this paper is to describe Takotsubo syndrome (TTS) as an acute complication following combined chemotherapy in a patient with significant thromboembolic burden and metastatic cervical cancer. Case: A 61-year-old female patient with a diagnosis of metastatic cervical cancer experienced acute chest pain. Elevated troponin levels and abnormalities in the electrocardiogram initially suggested an acute myocardial infarction, occurring after a chemotherapy session involving Carboplatin and Paclitaxel infusion. Although initial treatment targeted myocardial infarction, further diagnostic evaluations including coronary angiography and cardiac magnetic resonance imaging revealed no coronary artery disease but identified features consistent with stress cardiomyopathy, indicative of Takotsubo syndrome (TTS). This diagnosis led to an improvement in symptoms and a resolution of the acute changes observed. Conclusion: Stress cardiomyopathy, particularly TTS, is being increasingly recognized as an acute complication associated with combined chemotherapy regimens. The potential cardiotoxic effects of these chemotherapy agents demand careful monitoring and evaluation in patients undergoing oncological treatment, underscoring the importance of integrating cardioprotective strategies into the management of these patients.
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We report on 2 similarly affected cousins with a compound imbalance resulting from a familial t(5;9)(q34;p23) and entailing both an â¼17-Mb 5q terminal duplication and an â¼12-Mb 9p terminal deletion as determined by G-banding, subtelomere FISH, and aCGH. The proband's karyotype was 46,XX,der(9)t(5;9)(q34;p23)mat.ish der(9)t(5;9)(q34;p23)(9pter-,5qter+).arr 5q34q35(163,328,000-180,629,000)×3, 9p24p23(194,000-12,664,000)×1. Her cousin had the same unbalanced karyotype inherited from his father. The clinical phenotype mainly consists of a distinct craniofacial dysmorphism featuring microcephaly, flat facies, down slanting palpebral fissures, small flat nose, long philtrum, and small mouth with thin upper lip. Additional remarkable findings were craniosynostosis of several sutures, craniolacunia and preaxial polydactyly in the proband and hypothyroidism in both subjects. The observed clinical constellation generally fits the phenotypic spectrum of the 5q distal duplication syndrome (known also as Hunter-McAlpine syndrome), except for the thyroid insufficiency which can likely be ascribed to the concurrent 9p deletion, as at least 4 other 9pter monosomic patients without chromosome 5 involvement had this hormonal disorder. The present observation further confirms the etiology of the HMS phenotype from gain of the 5q35âqter region, expands the clinical pictures of partial trisomy 5q and monosomy 9p, and provides a comprehensive list of 160 patients with 5q distal duplication.
Assuntos
Cromossomos Humanos Par 5/genética , Hipotireoidismo/genética , Adulto , Deleção Cromossômica , Cromossomos Humanos Par 9/genética , Craniossinostoses/genética , Síndrome de Cri-du-Chat/genética , Feminino , Transtornos do Crescimento/genética , Humanos , Hibridização in Situ Fluorescente , Lactente , Deficiência Intelectual/genética , Cariotipagem , Masculino , Trissomia/genéticaRESUMO
AIMS: To characterize the bacterial consortia and isolates selected for their role in hexavalent chromium removal by adsorption and reduction. METHODS AND RESULTS: Bacterial consortia from industrial wastes revealed significant Cr(VI) removal after 15 days when incubated in medium M9 at pH 6·5 and 8·0. The results suggested chromium reduction. The bacterial consortia diversity (T-RFLP based on 16S rRNA gene) indicated a highest number of operational taxonomic units in an alkaline carbonate medium mimicking in situ conditions. However, incubations under such conditions revealed low Cr(VI) removal. Genomic libraries were obtained for the consortia exhibiting optimal Cr(VI) removal (M9 medium at pH 6·5 and 8·0). They revealed the dominance of 16S rRNA gene sequences related to the genera Pseudomonas/Stenotrophomonas or Enterobacter/Halomonas, respectively. Isolates related to Pseudomonas fluorescens and Enterobacter aerogenes were efficient in Cr(VI) reduction and adsorption to the biomass. CONCLUSIONS: Cr(VI) reduction was better at neutral pH rather than under in situ conditions (alkaline pH with carbonate). Isolated strains exhibited significant capacity for Cr(VI) reduction and adsorption. SIGNIFICANCE AND IMPACT OF STUDY: Bacterial communities from chromium-contaminated industrial wastes as well as isolates were able to remove Cr(VI). The results suggest a good potential for bioremediation of industrial wastes when optimal conditions are applied.
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Bactérias/metabolismo , Cromo/metabolismo , Resíduos Industriais , Consórcios Microbianos , Adsorção , Bactérias/genética , Bactérias/isolamento & purificação , Biodegradação Ambiental , Biomassa , DNA Bacteriano/genética , Biblioteca Genômica , Concentração de Íons de Hidrogênio , Oxirredução , Filogenia , Polimorfismo de Fragmento de Restrição , RNA Ribossômico 16S/genéticaRESUMO
Research in animal models established that tinman, a key gene in Drosophila dorsal vessel development, is an orthologue of Nkx2-5, a key gene in vertebrate cardiac development. Similarities between the arthropod dorsal vessel and vertebrate hearts are interpreted in light of concepts such as homology or convergence. We discuss this controversy in the context of the evolution of animal circulatory pumps and propose the distinction between peristaltic and chambered pumps as a fundamental parameter for evolutionary comparisons between bilaterian pumps. Neither homology nor convergence is satisfactory to explain the origins of hearts and pumping organs. Instead, we propose that animal pumps derive from parallel improvements of an ancestral, peristaltic design represented by a layer of myocytes at the external walls of primitive vessels. This paradigm unifies disparate views, impacts our understanding of bilaterian evolution and may be helpful to interpret similarities between pumping organs of phylogenetically relevant species and emerging models.