Impact of supervised exercise training on pulmonary function parameters, exercise capacity and Irisin Biomarker in Interstitial lung disease patients.

OBJECTIVES: To assess the impact of supervised exercise training (SET) on pulmonary function Parameters, exercise capacity and Irisin biomarker in Interstitial Lung Disease (ILD) patients. METHODS: Ten (10)patients with ILD and 18 healthy controls of age between 30-40+ years were selected for 8-week SET program. Before and after SET all subjects performed exercise capacity six minutes' walk test (6MWT), heart rate (HR) changes were recorded, shortness of Breath Respiratory Questionnaire (SOBQ) was obtained and Irisin levels were measured by Enzyme-Linked Immunosorbent Assay (ELISA). This interventional study was carried out at Department of Physiology, Faculty of Medicine, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia, from October 2018 to February 2019. RESULTS: Mean six minutes' walk distance (6MWD) was 395 ± 68.4 m at 1st visit increased significantly (p=0.001) to 458.8± 87.1 mat 15 visit. However, 6MWD values found significantly higher in controls (517.4±84.1 m; 561.7±81.6 m; p=0.013) than ILD patients. Overall change (difference between post and pre exercise) in HRvalue was recorded lower in ILD patients (30-35 bpm) as compared to controls (40-45 bpm). Moreover, ILD patients had overall higher SOBQ score than controls. Pre SET Irisin levels of ILD patients (4.24 ±1.73 pg/ml) and controls (3.43 ±1.04pg/ml) were found unchanged dafter SET (4.48±2.02pg/ml, 3.39 ±1.41pg/ml, p=0.677, p=0.093)respectively. However, patients Irisin values were found higher as compared to controls before and after SET. CONCLUSION: Exercise capacity and Dyspneain patients with ILD were improved after 8-week of SET program. No major changes in Irisin levels among patients with ILD and controls were observed. Additional research requires to be carried out on large number of subjects to deter Minutese the advantages of exercise in ILD.

Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review.

This report describes siblings with Stromme syndrome, a rare genetic condition that primarily presents with a triad of intestinal atresia, cranial and ocular malformations, and other organ systems could be involved. This clinical triad was initially named after the first person to describe it in 1993. Here, we report a family with two siblings who presented with unusual intestinal atresia and ocular and CNS abnormalities. The first patient is a 6-year-old-boy with apple peel duodeno-jejunal atresia, unilateral microphthalmia and microcephaly. The second patient, a younger brother, presented with intestinal atresia, corneal opacity and alobar holoprosencephaly and passed away at the age of 3 months. Exome sequencing showed a novel homozygous variant in the CENPF gene, NM_016343.3: c.1195-2 A > G that was detected in both of the affected siblings. This is a report and literature review of CENPF-related ciliopathy, which may result in Stromme syndrome. As this is the fourth report linking the CENPF gene variant with Stromme syndrome and first reported case presented with holoprosencephaly, it will expand the current knowledge on the genotype and the phenotype of Stromme syndrome.

The Use of Recombinant nAG Protein in Spinal Cord Crush Injury in a Rat Model.

OBJECTIVE: To evaluate the therapeutic properties of nAG protein during the recovery following acute spinal cord injuries in the rat. STUDY DESIGN: An experimental study. PLACE AND DURATION OF STUDY: King Saud University, Riyadh, Saudi Arabia, from September 2014 to September 2015. METHODOLOGY: Eight rats were studied (4 control rats and 4 experimental rats; and hence 50% were controls and 50% were experimental). All rats were subjected to an acute spinal cord injury using the aneurysmal clip injury model. Immediately after the injury, a single intra-dural injection of either normal saline (in the control group) or the nAG protein (in the experimental group) was done. Assessment of both groups was done over a 6-week period with regard to weight maintenance, motor recovery scores, MRI and histopathology of the injury site. RESULTS: Weight maintenance was seen in the experimental and not in the control rats. Starting at 3 weeks after injury, the motor recovery was significantly (p<0.05) better in the experimental group. MRI assessment at 6 weeks showed better maintenance of cord continuity and less fluid accumulation at the injury site in the nAG-treated group. Just proximal to the injury site, there was less gliosis in the experimental group compared to the control group. At the crush injury site, there was less tissue architecture distortion, less vacuole formation, and less granulation tissue formation in the experimental group. CONCLUSION: The local injection nAG protein enhances neuro-restoration, reduces gliosis, and reduces vacuole/ granulation tissue formation following acute spinal cord crush injury in the rat aneurysmal clip animal model.