Zaburzenia odżywiania i interwencje żywieniowe u chorych na dystrofię mięśniową Duchenne’a

Duchenne muscular dystrophy (DMD) is caused by the mutations in the dystrophin gene. It isthe heaviest myopathy with progressive, leading to premature death before 30 years of age.In DMD patients muscle atrophy results in adverse consequences in the functioning of manyorgans, including the digestive system. An essential part of caring for the DMD boys is themonitoring of nutritional status. Eating disorders in the initial phase of the disease involveexcessive body weight, caused by sterydotherapy and immobilization, while in subsequentstages of the disease arises from risk of malnutrition. The study shows the mechanismsand symptoms of nutrition disorders and the possibility of nutritional intervention in patientswith DMD.Dystrofia mięśniowa Duchenne’a (DMD) to wywoływana mutacjami w genie dystrofiny najcięższa miopatia o postępującym przebiegu, prowadząca do przedwczesnego zgonu przed 30. rokiem życia. U pacjentów z DMD zanik mięśni powoduje niekorzystne następstwa w funkcjonowaniu wielu narządów, w tym układu pokarmowego. Istotnym elementem opieki nad chorym jest monitorowanie stanu odżywienia. Zaburzenia odżywiania w początkowej fazie choroby dotyczą nadmiernej masy ciała, spowodowanej steroidoterapią i unieruchomieniem, podczas gdy na kolejnych etapach choroby powstaje ryzyko niedożywienia. W pracy przedstawiono patomechanizm i objawy zaburzenia odżywiania oraz możliwości interwencji żywieniowych u chorych z DMD

Atopy and Multisensitizations in Specific IgE Microarrays and Their Impact on Severe Asthma

(1) Asthma is a chronic inflammatory airway disease. Around 3–10% of patients experience severe refractory asthma. These patients with high symptom intensity and frequent exacerbations present a challenge for allergologists. Their allergic vs. non-allergic profile might be different from the standard asthmatic group and this difference is vital in qualifying for anti-IgE biologicals. The aim of the study was to analyze multiple sensitizations in patients with severe asthma and assess their impact on the course of the disease. (2) Forty-two patients with severe asthma according to GINA were enrolled. They experienced at least two exacerbations during the past year and had uncontrolled asthma despite high inhaled steroid use. A microarray serum Alex test (allergen-specific IgE to 295 extracts and components) was performed together with Complete Blood Count tests, the Asthma Control Questionnaire (ACQ), the Mini Asthma Quality of Life Questionnaire (MiniAQLQ), and spirometry. (3) There were 29 female and 13 male patients. The patient mean age was 50.4 (22–70). In 25 (60%) patients, inhalant sensitizations were detected. In 9 (21%) cases, a new perennial allergen was discovered that might enable anti-IgE treatment in the future. In the entire studied group, 8 patients (19%) would still not qualify for anti-IgE, anti-IL4, or anti-IL5 treatment. A linear regression analysis revealed that a Canis familiaris allergen (Can f 1) correlated with worse asthma control in ACQ. An Aspergillus allergen (Asp f 6) correlated negatively with Forced Expiratory Volume in one second (FEV1). (4) The study presents the usefulness of the ALEX test in 21% of patients with severe asthma in qualification for anti-IgE treatment. It highlights the impact of canine and Aspergillus sensitizations on worse control in patients with severe asthma