[Clinical characteristics and whole exome sequencing results of patients with Möbius syndrome].

Objective: To analyze the clinical characteristics of patients with Möbius syndrome (MBS) and to explore likely pathogenic genes. Methods: Cross-sectional study. The study enrolled 18 sporadic MBS patients who visited the Eye Center of Beijing Tongren Hospital Affiliated to Capital Medical University from July 2018 to December 2021. All patients completed the general information questionnaire and underwent detailed ophthalmic examinations and general physical examinations. Seventeen patients received MRI examination of cranial nerves and the orbit. The peripheral venous blood of all patients and their nuclear family members was collected, the genomic DNA was extracted, and the pathogenic gene variations that may lead to MBS were identified by whole exome sequencing and bioinformatics analysis. Results: Among the 18 patients, there were 8 males and 10 females, and the age was (4.5±4.0) years (range, 8 months to 17 years). All patients showed congenital, bilateral or unilateral abduction deficit and facial weakness, which met the minimum diagnostic criteria of MBS. Among them, bilateral abduction deficit (16/18) and bilateral facial weakness (15/18) were more common. Nine patients were orthotopic in primary position, eight presented with esotropia, and one showed hypotropia. All patients had ametropia, of which 4 patients were diagnosed as amblyopia. Fifteen patients were also accompanied by other multiple congenital malformations, mainly characterized by abnormal development of glossopharynx (14/18) and limbs (5/18), and 7 patients were also accompanied by motor retardation. In addition, 9 patients had intrauterine exposure to adverse factors. Among the 17 patients who underwent MRI, 15 patients had bilateral hypoplasia of the abducens nerve, two had unilateral hypoplasia of the abducens nerve, 14 showed bilateral hypoplasia of the facial nerve, and three showed hypoplasia of the left facial nerve. Besides, some patients were also accompanied by hypoplasia of other cranial nerves, mainly the glossopharyngeal nerve and the hypoglossal nerve. No definite pathogenic variations were found by whole exome sequencing and bioinformatics analysis. Conclusions: The main clinical features of MBS were congenital abduction deficit and facial weakness, with complicated manifestations and variable severity. MRI showed absence or thinning of the abducens nerve and the facial nerve. The results of MRI can be used as a supplement to the diagnostic criteria of MBS. The mutation detection rate of MBS was low, and half of patients had exposure to adverse factors during pregnancy, suggesting that there was a multifactorial pathogenic mechanism in MBS.

[Application of MRI in the etiological diagnosis of special forms of strabismus].

Objective: To explore the imaging features of patients with special forms of strabismus and summarize the subtypes by using MRI imaging techniques. Methods: A retrospective case series study. Among the patients who visited the Beijing Tongren Hospital between 2006 and 2016, 1 113 patients were identified with special forms of strabismus after complete ophthalmic and orthoptic evaluations. These patients were further evaluated using several types of high-resolution MRI techniques of the oculomotor nerves in the brain, the cavernous sinus, and the orbits. Results: Among the 1 113 patients, 818 patients (73.5%) were identified with MRI abnormal conditions, and 295 patients (26.5%) were identified with MRI normal conditions. Nine different disease types were identified in the studied populations, which included 257 patients (23.1%) with congenital cranial dysinnervation disorders, 209 patients (18.8%) with thyroid associated ophthalmopathy, and 169 patients (15.2%) with abnormalities of the extraocular muscles. Other diseases included orbital fractures (3.3%, 37 patients), intraorbital inflammations (2.7%, 30 patients), tumors (2.3%, 26 patients), injuries of medial rectus muscle after endoscopic sinus surgery (1.2%,13 patients), and lesions of cavernous sinus (2.0%, 22 patients). Additional 55 patients (4.9%) were identified with other causes such as high myopia fixed esotropia, and so on. Conclusion: Summarizing the common clinical characteristics and rules with the help of MRI can further clarify the etiology of special forms of strabismus, and accurately guide the diagnosis and treatment of strabismus. (Chin J Ophthalmol, 2019, 55: 361-368).

[Computed tomography imaging parameters of 82 Chinese patients with congenital microphthalmia].

Objective: To observe computed tomography (CT) imaging parameters of congenitally blind microphthalmia in Chinese patients and to provide clinical reference data for the Chinese population. Methods: It was a retrospective study for a consecutive case series of congenitally blind microphthalmia from July 2011 to July 2013. All of the patients were diagnosed in the Ocular Plastic Department, Tongren Eye Center, Beijing Tongren Hospital. We employed multi-section helical CT imaging with a computer-aided design system to observe and measure the imaging features in 82 Chinese patients (85 eyes). The paired T-test was applied for comparing the axial lengths, transverse diameters, and vertical diameters between the both sides in patients with congenital microphthalmia. The Pearson correlation was used for analyzing the relationship between the axial length and the age of the patients. Results: In the 82 patients, the age ranged from 1 month to 40 years old. Forty-one patients were male and 41 were female. The disease was unilateral in 96.34% of the patients. The orbital cysts were observed in 12.94% of them, and 76.47% of them presented basic structures on the CT scan. The abnormalities of the lens (62.35% of the eyes) and vitreous (82.35% of the eyes) were observed. The mean maximum axial length of the affected eyes (85 eyes) was (14.52±0.56) mm and the mean axial length of the unaffected eyes (79 eyes) was (22.79±0.36) mm. There was significantly statistical difference in the ocular size between the affected and unaffected eyes (t= 1.156, P<0.001) . Conclusions: Congenitally blind microphthalmia is usually complicated with the abnormalities of the lens and vitreous. The ocular size decreases significantly. The results of the present study provide a clinical reference for evaluating congenitally blind microphthalmia.(Chin J Ophthalmol, 2018, 54: 199-204).

Preparation and liquid chromatographic analysis of propanediol fatty acid esters.

Procedures were developed for the synthesis, purification and analysis of propanediol (PD) esters of n-fatty acids (FA). Mono- (MAPD) and di-acylated (DAPD) species were synthesized from PD and FA using an immobilized lipase (Candida antarctica B) in tert-butanol. MAPD and DAPD were isolated using silica gel column chromatography as approximately 95% pure preparations. Normal phase gradient LC provided for resolution of MAPD, DAPD and FA. UV220 nm detection provided a detection limit of about 1 microgram, and a linear response range of up to 2000 micrograms. Response factors were determined for MAPD, DAPD and FA components comprised of n-fatty acyl lengths of 4-16.

Separation of alpha-amylase by reversed micellar extraction. Effect of solvent type and cosolvent concentration on the transfer process.

The recovery of alpha-amylase from the crude enzyme preparation by the reversed micellar liquid-liquid extraction was investigated. The reversed micellar solution was formed by dissolving a cationic surfactant Aliquat 336 in six different alkanes (cyclohexane, n-hexane, isooctane, n-octane, n-decane, and n-dodecane) respectively with addition of a cosolvent n-octanol. It was found that a minimal quantity of n-octanol was needed for Aliquat 336 to dissolve in apolar solvent and form reversed micelles. Furthermore, this minimal amount of n-octanol needed was found to be different when Aliquat 336 was dissolved in different alkanes. It tended to increase with the number of carbon atoms in alkane and also depended on the solvent structure. During the forward extraction process, it was revealed that a high value of solubilization of protein in Aliquat 336 reversed micelles could be achieved when four out of the six alkanes (cyclohexane, n-hexane, isooctane, n-octane) were used as the solvent for Aliquat 336. After a full forward and backward extraction cycle, however, a high recovery of both the protein mass and alpha-amylase activity in the stripping solution could be obtained only when two out of the six alkanes (n-hexane and isooctane) were used as the solvent for Aliquat 336. When n-hexane and isooctane were used as the solvent for Aliquat 336, up to 80% of the total alpha-amylase activity in the crude enzyme preparation could be recovered at the end of extraction cycle, meanwhile alpha-amylase could be concentrated about 1.4-fold. In the cases of other four alkanes (cyclohexane, n-octane, n-decane, and n-dodecane) as solvent, most of the alpha-amylase activity in the crude enzyme preparation would be denatured after an extraction cycle.

Purification of industrial alphaamylase by reversed micellar extraction.

The purification of industrial alpha-amylase by liquid-liquid extraction with Aliquat 336 reversed micellar solution as the extractant was studied. Seven kinds of Aliquat 336 reversed micellar solution, formed by using seven kinds of straight chain alkyl alcohols as cosolvent, have been utilized to extract industrial a-amylase. It was found that these seven kinds of reversed micellar solution can all achieve a high protein transfer efficiency in the forward extraction process. After a full forward and backward extraction cycle, however, only the reversed micelles with n-butanol as the cosolvent was found to be able to maintain the activity of alpha-amylase in the stripping solution. By using the reversed micelles of Aliquat 336/isooctane/1% (v/v) n-butanol to perform a full extraction cycle, it was found that 85% of the total activity of alpha-amylase in the industrial a-amylase could be recovered at the end of an extraction cycle and the specific activity of alpha-amylase could be concentrated about 1.5-fold; meanwhile, most of the neutral protease in the industrial a-amylase could be removed. The separation factor of alpha-amylase to neutral protease at the end of an extraction cycle can reach about 10. (c) 1995 John Wiley & Sons, Inc.

Reversed micellar extraction of trypsin: Effect of solvent on the protein transfer and activity recovery.

By using trypsin as the model protein and AOT as the model surfactant, the effect of a variety of solvents on protein transfer and activity recovery during the liquid-liquid reversed micellar extraction was investigated. It was found that several solvents, including isooctane, octane, heptane, and kerosene, had a similar effect on the recovery of trypsin activity after a full cycle of forward and backward extraction, and could all be used as the solvents for AOT-reversed micelles in trypsin extraction. Two other solvents (hexane and cyclohexane), however, were not so efficient. (c) 1995 John Wiley & Sons, Inc.

Cancer mortality and mortality trends in Henan, China, 1974-1985.

Promotion of cancer control programs requires accurate data on cancer incidence and mortality from population-based cancer registries. Currently, there are 12 institutions that register cancer deaths in the respective 12 counties and cities. The data thus obtained show that cancer of the esophagus, stomach, and liver in both sexes and cervical cancer in females are the leading causes of all cancer deaths. During the period of 1974-1985, marked changes have taken place in the Henan province in cancer mortality rates of certain sites. Some description and discussion of these changes are presented in this paper.