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Background Congenital chloride diarrhea (CCD) is characterized by persistent chloride (Cl)‐rich diarrhea evident from birth. CCD is a rare autosomal recessive disorder caused by defects in the solute carrier family 26 member 3 (SLC26A3) gene, which encodes an intestinal Cl−/HCO3−, Na+‐independent exchanger. Various mutations of SLC26A3 have been described in CCD. However, no de novo mutations have been found to be responsible for CCD. Here we report the first such occurrence. Methods Clinical and laboratory findings during the perinatal period were obtained retrospectively from medical records. Mutations involving SLC26A3 were detected by Sanger sequencing. Results The male infant reported here was delivered at 29 weeks of gestation. Just after birth, he had watery diarrhea without meconium passage. High chloride concentrations in the diarrhea led to a diagnosis of CCD. Direct sequencing of all coding exons in SLC26A3 including exon‐intron boundaries disclosed 2 compound heterozygous mutations: c.382G>A, p.G128S and c.2063‐1g>t. The c. 2063‐1g>t mutation was confirmed in his mother's DNA, but c.382G>A, p.G128S was absent in both mother and father. Conclusion We concluded that c.382G>A, p.G128S represented a de novo mutation of SLC26A3, a very rare event in autosomal recessive disorders. To our knowledge, this is the first CCD case involving a de novo novel mutation of SLC26A3., The manuscript describes a Japanese newborn who was diagnosed with congenital chloride diarrhea caused by a novel de novo mutation of SLC26A3. De novo mutation in an autosomal recessive disorder may be extremely rare. To our knowledge, this is the first reported case of congenital chloride diarrhea with a de novo novel mutation in SLC26A3.

This study aimed to investigate whether intra-tracheal administration of basic fibroblast growth factor (b-FGF) promotes the growth of tracheal cartilage. Trachea of 4-week old mice were intubated and 2.5 μg b-FGF administered (Group 4) for periods from 1 to 5 days. Cervical tracheal outer diameter and tracheal ring length were compared in Group 1 (no intervention), Group 2 (tracheal intubation), Group 3 (intra-tracheal administration of distilled water) and Group 4, at 8 weeks of age. Outer diameter and tracheal ring length in Group 4 were also compared with that in Group 1 at 12 and 16 weeks of age. At 8 weeks of age, tracheal ring length with b-FGF administration for more than 4 days in Group 4 was significantly increased over that following 1-day administration. At 8 weeks of age, mean outer diameter and the mean tracheal ring length in Group 4 were significantly greater than in the other groups. Mean outer diameter and mean tracheal ring length were significantly greater in Group 4 than in Group 1 at 12 and 16 weeks of age. This study has shown that intra-tracheal administration of b-FGF enlarges the tracheal lumen.

Background Intratracheal injection of basic fibroblast growth factor (b-FGF) has been shown to enlarge the tracheal lumen 4 weeks after treatment. The objective of this study was to investigate the long-term effect of tracheal cartilage growth promotion by intratracheal injection of b-FGF. Materials and methods New Zealand white rabbits were classified into four groups to receive either distilled water alone (Group 1; n = 16; control), 40 μg (Group 2; n = 10), 100 μg (Group 3; n = 13), or 200 μg (Group 4; n = 16) of b-FGF dissolved in water. The treatment was injected into the posterior wall of the cervical trachea using a tracheoscope. The animals were sacrificed 4 or 12 weeks later. Results Four weeks after treatment, the mean luminal areas of tracheas for Groups 1, 2, 3, and 4 were 27.2, 25.6, 32.2, and 36.2 mm2, respectively. At 12 weeks, these were 29.3, 37.9, 42.5, and 56.0 mm2, respectively. The levels of glycosaminoglycan at 12 weeks were 93.9, 152.5, 123.2, and 210.6 μg/mg, respectively. At 12 weeks, the levels of type II collagen were 77.2, 133.1, 99.2, and 148.9 μg/mg, respectively. Conclusion Twelve weeks after a single injection of b-FGF, the mean luminal area of the trachea continued to increase.

Background Early definitive diagnosis of necrotizing enterocolitis (NEC) based on Bell's staging criteria is difficult because there are few observable changes on abdominal imaging and blood chemistry tests at the onset of the disease. Purpose To investigate whether prostaglandin E-2 major urinary metabolite (PGE-MUM) can be a useful surrogate marker reflecting the disease state and severity of NEC in infants. Methods Infants were enrolled in this study between January 2014 and December 2016. NEC diagnosis was based on Bell's staging criteria > Stage II or necrotic bowel observed at surgery. After diagnosis, PGE-MUM level was measured and compared with that of the other disease and healthy infant groups. Results Median PGE-MUM value was highest in the NEC group (576 [65–3672] μg/g•Cre/BSA × 1000), followed by the other disease group (94 [57–296] μg/g•Cre/BSA × 1000) and the healthy infant group (19 [10–44] μg/g•Cre/BSA × 1000) (sensitivity: 92.3%, specificity: 81.5%, accuracy: 85.0%; p Conclusions PGE-MUM level may be a useful surrogate biomarker reflecting the disease state of NEC. The method of urine sample collection is also advantageous, being noninvasive for infants. This is the first study reporting PGE-MUM level in NEC. Type of study Study of diagnostic test. Level of evidence LEVEL II.

This paper discusses an Internet-based tele-rehabilitation system with Single-Master and Multi-Slaves, which aims to achieve the situation where multiple stay-home patients in scattered places can share rehabilitation instruction from one physical therapist. After the introduction of whole system's concept, ‘ Passive-Active Shift’ rehabilitation is proposed considering the varied symptom of different patients. Then after introduction of master slave system's designing, for passive rehabilitation which is carried through internet-based bilateral teleoperation system by therapist who is necessary, novel control architecture to ensure the stability of tele-rehabilitation system with time delay is proposed. For active rehabilitation, game-based active rehabilitation is proposed to draw the patients' mind into rehabilitation which is important to reestablish neuromuscular control.