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Medicine (Baltimore) ; 100(6): e24627, 2021 Feb 12.
Artigo em Inglês | MEDLINE | ID: mdl-33578576


RATIONALE: Steroid-resistant nephrotic syndrome (SRNS) is a special kidney disease. SRNS is characterized by steroid-resistant, clinical variability, and genetic heterogeneity. Patients with SRNS often may eventually need renal transplantation. PATIENT CONCERNS: A 10-month-old Chinese male infant presented with oliguria, renal dysfunction, hypertension, and anemia. DIAGNOSES: Combined with clinical manifestations, laboratory testing and sequencing results, the patient was diagnosed as SRNS. INTERVENTIONS: Combined intravenous methylprednisolone and cefoperazone sulbactam did not improve the patient's condition. Thus, SRNS associated with hereditary nephrotic syndrome was strongly suspected. Genetic testing for hereditary renal disease of the patient revealed 2 novel heterozygous mutations in the Nucleoporin 93 (NUP93) gene, which were predicted pathogenic and harmful by bioinformatic softwares of SIFT, PolyPhen_2 and REVEL. OUTCOMES: As general physical health deterioration and renal dysfunction, the patient died of a severe infection. LESSONS: The novel NUP93 heterozygous mutations identified in the current study broadened the genetic spectrum of SRNS and further deepened our insight into pathogenic mutations of NUP93 to improve disease diagnosis.

Síndrome Nefrótica/diagnóstico , Antibacterianos/administração & dosagem , Antibacterianos/uso terapêutico , Cefoperazona/administração & dosagem , Cefoperazona/uso terapêutico , Evolução Fatal , Aconselhamento Genético , Glucocorticoides/administração & dosagem , Glucocorticoides/uso terapêutico , Humanos , Lactente , Masculino , Metilprednisolona/administração & dosagem , Metilprednisolona/uso terapêutico , Síndrome Nefrótica/tratamento farmacológico , Síndrome Nefrótica/genética
Biosens Bioelectron ; 168: 112569, 2020 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-32905930


Wearable and implantable bio-integrated electronics have started to gain momentum because of their essential role in improving the quality of life for various patients and healthy individuals. However, their continuous operation is often limited by traditional battery technologies with a limited lifespan, creating a significant challenge for their development. Thus, it is highly desirable to harvest biomechanical energies from human motion for self-powered bio-integrated functional devices. Piezoelectric energy harvesters are ideal candidates to achieve this goal by converting biomechanical energy to electric energy. Because of their applications on soft and highly deformable tissues of the human body, these devices also need to be mechanically flexible and stretchable, thus posing a significant challenge. Effective methods to address the challenge include the exploration of new stretchable piezoelectric materials (e.g., hybrid composite material) and stretchable structures (e.g., buckled shapes, serpentine mesh layouts, kirigami designs, among others). This review presents an overview of the recent developments in new intrinsically stretchable piezoelectric materials and rigid inorganic piezoelectric materials with novel stretchable structures for flexible and stretchable piezoelectric sensors and energy harvesters. Following the discussion of theoretical modeling of the piezoelectric materials to convert mechanical deformations into electrical signals, the representative applications of stretchable piezoelectric materials and structures in wearable and implantable devices are briefly summarized. The present limitations and future research directions of flexible and stretchable piezoelectric devices are then discussed.