Malnutrition in Spinal Muscular Atrophy Type I: Case Report of a Novel Nutritional Intervention With Improved Growth and Function While Receiving Parallel Gene Splicing Therapies.

Children with spinal muscular atrophy (SMA) frequently experience feeding intolerance and diminished growth. Although splicing modulators to prevent symptoms are available worldwide, adequate nutrition to support growth, development, and improved quality of life remains essential. We present a case study of a one-year-old malnourished male with SMA type I who achieved improved growth and feeding tolerance with a human milk (HM)-derived nutrition intervention. Despite feeding with appropriately balanced semielemental formula, he remained severely malnourished after two months of hospitalization. Feeds were partially replaced with HM-based diet plus a HM-based fat modular. Feeding tolerance, fecal calprotectin levels, and z scores for weight and length improved while receiving the HM-based intervention. We hypothesize that the HM-based feeding reduced intestinal inflammation by diminishing pathogenic elements of his microbiome. Owing to their aberrant fatty acid metabolism, patients with SMA are uniquely positioned to benefit from HM-based nutrient acquisition even while receiving splicing modulators to stabilize the disease process.

The overlooked left ventricle in persistent pulmonary hypertension of the newborn.

Introduction: Persistent pulmonary hypertension of the newborn (PPHN) is a rapidly increasing condition among neonates. It represents failure of adaptation of pulmonary circulation to the extrauterine environment causing severe hypoxemia in affected newborns. Few data have weighed the relationship of ventricular dysfunction in the context of PPHN and the outcome in involved patients. The aim of this paper is to study ventricular functions in newborns with PPHN and to determine whether short-term outcome is closely related or not to ventricular dysfunction occurring in PPHN.Methods: Thirty full-term neonates with PPHN were screened with conventional echocardiography and tissue Doppler imaging (TDI) for the assessment of ventricular functions at the start of treatment for PPHN, demographic data and Arterial blood gazes were performed as well. The echocardiographic data were compared to healthy age-matched controls. The sensitivity and specificity of relevant echocardiographic data to predict the short-term (Day 3) outcome of patients were measured.Results: Patients with PPHN had both left ventricular (LV) and right ventricular (RV) dysfunction when compared to controls, RV Tei (Cases: 0.39 ± 0.1 versus controls: 0.29 ± 0.08, p < .01) LV Tei (Cases: 0.3 ± 0.04 versus controls: 0.25 ± 0.02, p < .01), LV functions were found of greatest prediction of negative outcome in cases with PPHN than RV Tei.Conclusion: The aforementioned findings are sight opening towards the importance of LV dysfunction in PPHN, LV dysfunction might occur in PPHN as a result of RV-LV interactions and the observed involvement might be an important aggravating factor of PPHN.

Evaluation of posteromedial transdiscal superior hypogastric block after failure of the classic approach.

OBJECTIVE: The iliac crest and L5 transverse process are potential barriers to proper needle placement in superior hypogastric plexus block (SHPB) for pelvic cancer pain. Several investigators report successful SHPB using a paramedian transdiscal approach. Another new single puncture approach, posteromedian transdiscal, has been described which can be performed with the patient in either lateral or prone position. METHODS: Twenty-two patients were included in the study. Visual analog score, daily morphine consumption, duration of the procedure, side effects, and Quality of Life Questionnaire-C30 were recorded. RESULTS: The duration of the procedure was 21.4 ± 6.5 minutes. The mean visual analog score, daily morphine consumption, and Quality of Life Questionnaire-C30 score were significantly decreased. There was no neural injury, headache, discitis, or disc herniation. CONCLUSIONS: The posteromedian transdiscal approach to SHPB for cancer pain proved to be safe and reliable compared with the classic technique. No nerve or disc-related complications were noted.