Role of surfactant protein C in neonatal genetic disorders of the surfactant system: A case report.

RATIONALE: Respiratory distress syndrome (RDS) refers to the symptoms of progressive dyspnea and respiratory failure in newborns shortly after birth. The clinical and genetic characteristics of patients with neonatal RDS have not been extensively reported. PATIENT CONCERNS: A infant was in critical condition with repeated paroxysmal blood oxygen decline. Oxygen inhalation and noninvasive ventilator-assisted breathing relief were not effective. The etiology was unclear, and there was no family history of lung disease. Surface-active substance replacement therapy and positive pressure-assisted ventilation support were ineffective. DIAGNOSIS: The infant was clinically diagnosed with RDS. Genetic tests revealed a heterozygous missense mutation in the c.168 surfactant protein C (SFTPC) gene. INTERVENTIONS: Tracheal intubation was performed with invasive ventilator-assisted breathing, pulmonary surfactant was administered. Supportive treatment for liver protection and administration of a cardiotonic diuretic, vasodilator, human immunoglobulin (intravenous infusion), fresh frozen plasma, and suspended red blood cells were performed. OUTCOMES: The infant showed poor responses to respiratory and circulatory support, antibiotic treatment, and other treatment methods. The patient was discharged from hospital against the advice of us, cut off from us. The long-term prognosis of the patient after discharge remains unknown. LESSONS: SFTPC gene mutations may be an important risk factor for the development of common lung diseases. Because of the important roles of surfactant functions and metabolism, mutations in these genes can affect the production and function of pulmonary surfactant, leading to severe lung disease in term newborns.

Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy.

BACKGROUND: Bestrophin-1 (BEST1) gene is associated with a wide range of ocular phenotypes, collectively termed as bestrophinopathy. The aim of the current study was to identify the mutation spectrum of BEST1 in a large cohort of Chinese patients with bestrophinopathy. METHODS: Patients clinically suspected of bestrophinopathy were screened using multigene panel testing. All BEST1 variants were confirmed by Sanger sequencing, and validated in the families. FINDINGS: A total of 92 patients (Best vitelliform macular dystrophy (BVMD)=77; autosomal recessive bestrophinopathy (ARB)=15) from 58 unrelated families of Chinese origin and their available family members (n=65) were recruited. Overall, 39 distinct disease-causing BEST1 variants were identified, including 13 novel variants, and two reported variants but novel for ARB. Of them, 14 were associated with ARB, 23 with BVMD and two (c.604C>T and c.898G>A) with both BVMD and ARB. Most mutations associated with BVMD were missense (97.78%), while ARB was associated with more complex mutations, including missense (88.46%), splicing effect (3.85%), and frameshifts (15.38%). BEST1 hotspots were c.898G>A and c.584C>T among BVMD and ARB patients, respectively. Hot regions were located in exons 8, 2 and 6 in BVMD patients, and in exons 5 and 7 in ARB patients. The overall penetrance of BEST1 in our cohort was 71.30%, no de novo mutations were identified. CONCLUSION: This is the largest study to date that provides major population-based data of the BEST1 mutation spectrum in China. Our results can serve as a well-founded reference for genetic counselling for patients with bestrophinopathy of Chinese origin.

Unilateral medial rectus resection for the treatment of recurrent exotropia in children.

PURPOSE: To investigate the outcomes of unilateral medial rectus resection (UMR-res) for the treatment of small to moderate angles of recurrent exotropia in children followed up for a minimum of 6 months. METHODS: This study is a retrospective, consecutive, interventional case series in which 48 children who underwent UMR-res (range 4.0-7.5 mm) for recurrent exotropia [range 12-25 prism diopters (PD)] between January 2009 and February 2013 were enrolled. Of these 48 children, 32 had recurrent intermittent exotropia, and 16 had recurrent constant exotropia. A successful surgical alignment was defined as +5 to -10 PD of orthophoria in the primary position while viewing distant or near targets. RESULTS: At a mean follow-up of 12 months, the surgical success rate was 75 % (36/48), and the undercorrection rate was 25 % (12/48). No patient exhibited overcorrection. The success rates of the UMR-res in the recurrent intermittent exotropia group and recurrent constant exotropia group were 78 % and 69 %, respectively, and were not significantly different (P = 0.50). In the initial surgical procedure groups, the success rates of patients with bilateral lateral rectus recession, unilateral lateral rectus recession, and unilateral lateral rectus recession combined with medial rectus resection were 81.8 % (18/22), 81.25 % (13/16), and 50 % (5/10), respectively. The surgical success rates did not differ among these three groups (P = 0.122). CONCLUSION: Based on our results, UMR-res would appear to be an effective and safe procedure for the treatment of intermittent or constant recurrent exotropia of ≤25 PD in children.

Location of the supraorbital and infraorbital foramen with references to the soft tissue landmarks in a Chinese population.

The purpose of the current study was to determine the supraorbital foramen (SOF) and infraorbital foramen (IOF) based on soft tissue landmarks, to facilitate prediction of the location of this structure during facial surgery. Forty-two hemispheres of 21 adult cadavers (16 men and 5 women; aged 30-75 years) were dissected to expose the SOF and IOF. The locations of the SOF and IOF were evaluated with direct and photographic measurements. The data gained were analyzed by statistical method. The SOF localized 23.11 ± 2.35 mm superior and 9.48 ± 3.06 mm lateral to the angulus oculi medialis (AOM). The vertical angle from AOM to SOF was 68.3 (SD, 6.44) degrees. The SOF localized 24.81 (SD, 3.39) mm inferior and 10.89 (SD, 2.78) mm lateral to the AOM on the front view. The vertical angle from AOM to IOF was 66.5 (SD, 5.18) degrees. The SOF localized 11.22 (SD, 2.01) mm inferior and 6.09 (SD, 2.32) mm lateral to the ala of the nose (AL) on the front view. The vertical angle from AL to IOF was 61.7 (SD, 7.61) degrees. These results were a little different from the results of some other populations. We found the IOFs located on the point of one-fifth proportion distant to the ALs along the vertical direction distance from AL to SOF, whereas the AOMs located on the point of three-fifths proportion distant from the AL. Our results may provide more detailed information to predict the location of the SOFs and IOFs and help to prevent nerve or vessel damage.

Location of supraorbital foramen/notch and infraorbital foramen with reference to soft- and hard-tissue landmarks.

The purpose of the present study was to determine the locations of the supraorbital foramen (SOF) and the infraorbital foramen (IOF) relative to soft- and hard-tissue landmarks. It will provide more accurate data for dental and facial surgery. Twenty embalmed adult cadavers (40 sides; 16 men, 4 women) were dissected to expose the SOFs and IOFs, and another 46 skulls (92 sides) were also measured for further study. The locations of the SOFs and IOFs were evaluated with direct and photographic measurements. The data gained were analyzed by statistical method. The horizontal distances between the SOFs/IOFs and the medial canthus to the distance between the medial canthus and the lateral canthus ratios have been measured, and their confidence intervals are 0.22 to 0.31 and 0.34 to 0.49, respectively, and their linear regression equations are EF = 0.58 CF + 25.02 (unit: mm) and EF = 0.51 DG + 24.20 (unit: mm). The vertical distance between IOFs/SOFs and the medial/lateral canthi are 25.09 ± 3.36 mm/23.91 ± 3.31 mm and 25.75 ± 3.34 mm/26.93 ± 3.88 mm, respectively. The horizontal angle between IOFs/SOFs and the medial/lateral canthi are 72.54 ± 7.13 degrees, 66.77 ± 5.17 degrees, 47.45 ± 6.57 degrees, 54.69 ± 8.38 degrees, respectively. Based on the hard tissues, The SOF localized 20.55 ± 3.24 mm medial and 13.78 ± 2.60 mm superior to the zygomaticofrontal suture. And the horizontal angle between them is 56.04 ± 6.87 degrees. The IOF localized 18.52 ± 2.30 mm medial and 30.79 ± 3.29 inferior to the zygomaticofrontal suture. The horizontal angle between them is 31.06 ± 4.33 degrees. We also found that most (96.81%) of the IOFs were located below the middle line of the zygomatic arch. These results may provide more detailed information about the locations of SOF and IOF. And they will facilitate prediction of the locations of IOF and SOF in clinical procedure.

Location of mental foramen based on soft- and hard-tissue landmarks in a chinese population.

The purpose of the present study was to determine the location of the mental foramen (MF) based on soft- and hard-tissue landmarks, to facilitate prediction of the location of this structure during facial and dental surgery. Forty-two hemispheres of 21 adult cadavers (16 men and 5 women; aged 30-75 years) were dissected to expose the MF. The locations of the MFs were evaluated with direct and photographic measurements. Most of the MFs presented a single foramen (95%), except for only 2 cases with double foramina (5%). The MFs localized 23.38 +/- 2.00 mm inferior and 3.55 +/- 1.70 mm medial to the cheilion in the front view while 23.59 +/- 2.11 mm inferior and 7.19 +/- 3.03 mm posterior to the cheilion in the lateral view. Based on the hard-tissue landmarks, we found that most of the MFs localized inferior the second premolar in most of the cases (73.8%), and the MFs localized 23.34 +/- 2.39 mm below the cusp tip of the second premolar, 16.56 +/- 2.53 mm below the inferior alveoli, and 15.56 +/- 1.74 mm superior the bottom of the mandible. The position of the MF varied from 8.7 degrees medial to 15.5 degrees posterior in the vertical angle with the change of surgical body position from supine to lay-side position. Our results may provide a more detailed information to predict the location of the MFs.

Progress of Bioremediation of Organophosphate / 中国生物工程杂志

Now organophosphorus pesticides (OPs) bioremediation mainly means microbial bioremediation. However, phytoremediation has an advantage over microbial bioremediation because phytoremediation is safer and costs less than microbial bioremediation. Nevertheless, phytoremediation has limitations yet such as plants need better growth conditions and the efficiency of phytoremediation is lower. All these have confined the application of phytoremediation. Progresses of microbial bioremediation and phytoremediation of OPs were reviewed and OPs degrading enzymes and their organism sources, which are known by now, were summarized. Moreover, there are five important ways to enhance the efficiency of phytoremediation of OPs. They are culling plants, studying the action between soil and OPs, studying the genes that can resist or get rid of OPs, setting up the combined system of microbial bioremediation and phytoremediation and using degrading enzymes secreted selectively by roots.