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Real-world experience of diagnosis, disability, and daily management in parents of children with different genetic developmental and epileptic encephalopathies: a qualitative study.

Ann Med

December 2025

Research Group of Humanities and Qualitative Research in Health Science of Universidad Rey Juan Carlos (Hum&QRinHS), Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Universidad Rey Juan Carlos, Alcorcón, Spain.

Purpose: This study describes the experience of parents of children with developmental and epileptic encephalopathies (DEE) and how the disease impacts their daily lives.

Materials And Methods: A descriptive qualitative study was conducted using purposeful sampling. Twenty-one parents of children with DEEs caused by SCN1A, KCNQ2, CDKL5, PCDH19, and GNAO1 variants were included.

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Objective: Breastfeeding is associated with improved health outcomes in infancy and throughout adulthood as breast milk encompasses diverse immune-active factors that affect the ontogeny of the immune system in breastfed (BF) infants. Nevertheless, the impact of infant feeding on the immune system is poorly understood, and a comprehensive understanding of immune system development in human infants is lacking. In this observational study, we addressed the effects of different infant feeding approaches on cell populations and parameters in the peripheral blood of infants to gain insight into the innate and adaptive arms of the immune system.

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Objective: Study of neuroimaging changes according to MRI morphometry and their comparison with the structure and severity of cognitive impairment (CI) in patients with Alzheimer's disease (AD) and primary open-angle glaucoma (POAG).

Material And Methods: The study involved 90 patients who were divided into two equal groups of 45 people and who early had diagnosis of AD (group 1; median age - 71 [66; 77] years) and POAG (group 2; median age - 68 [64; 77] years). 71] years).

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Objective: To analyze the efficacy and tolerability of aceclofenac in the treatment of patients with acute non-specific musculoskeletal pain in the lower back (ANBP) compared with other NSAIDs (dexketoprofen, nimesulide and lornoxicam), as well as to assess the impact of NSAIDs therapy on the relative risk of recurrence and chronicity of this pathology.

Material And Methods: The study involved 80 patients (47 women and 33 men), average age 52.6 [47.

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Objective: Analysis of the effectiveness of the use of the drug Cytoflavin and the organization of the activities of nursing staff, within the framework of nursing care, in the complex therapy of patients with spinal cord injury (PSMT).

Material And Methods: Material and methods. 40 patients with PSMT due to a gunshot wound were examined, who were divided into two equal groups depending on the type of therapy performed: group 1 patients received the full volume of stage I medical rehabilitation (with additional use of neurodevelopmental techniques under the supervision of a Bobata department nurse) and standard drug therapy, including a course of intravenous Cytoflavin infusions followed by tablet form; group 2 patients received the full volume of stage I medical rehabilitation and standard drug therapy, but did not receive Cytoflavin.

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