Background Stickler syndrome is a genetic connective tissue disorder that affects the ocular,skeletal,orofacial and auditory systems.To determine the gene mutation loci can offer a basis for genetic diagnosis and management of Stickler syndrome.Objective The aim of this study was to research the clinical characteristics of a pedigree with Stickler syndrome and identify the disease-causing gene mutation.Methods This study was approved by Ethic Committee of Peking Union Medical College Hospital.The clinical study and pedigree analysis were performed in one family with Stickler syndrome type Ⅰ (STL Ⅰ).Nine family members were examined with informed consent.The entire coding regions of COL2A1 gene with flanking intronic regions were amplified by PCR and directly sequenced.The detected sequence change was confirmed to be mutationloci by examining whether they existed in normal control individuals.Mutant proteins were predicted with online software.Results There were 4 generations and 11 members in this family,and 2 members died,including 1 patient.Three patients were found in 9living families.Inheritance of this family complicd with an autosomal dominant inheritance mode.All affected individuals showed the consistent phenotypes with STL Ⅰ,including high myopia,membranous vitreous anomaly and surface central flat,short nose,palatoschisis,etc.Mutation screening of COL2A1 gene revealed that the first base of intron 12 was deleted(IVS12+1G del).Nucleotide sequence analysis showed that this mutation led to the functional abnormal of this gene by forming termination cordon in advance.This mutation occurred in all affected individuals,however,no mutation was observed in any unaffected member or 100 normal unrelated individuals.Conclusions This study identifies a novel splice-site mutation(IVS12+ 1G del)in COL2A1 gene in a Chinese STL Ⅰ pedigree.This is the first report on a mutation in a Chinese STL Ⅰ family.

Objective To investigate the method of establishing a model of delay eyeblink condi-tioning ( DEC) in no surgical cynomolgus monkey and analyze the related acquisition rule.Methods Using the special monkey chairs to fix 6 adult male cynomolgus monkeys,they were sitting on the chairs and keep-ing awake,and heads could rotate freely during the whole training session.In the experiment,the 6 monkeys were trained in DEC with a tone (500 ms,85 dB) as the conditioned stimulus (CS),paired with a corneal oxygen-puff (100 ms,5 psi) as the unconditioned stimulus (US).There were 120 trials per-session,and 2 sessions per-day.During the experiments,an infrared emitter/detector attached to spectacles for eyeblink re-cording,the data of conditioned response ( CR) and startle response ( SR) were analyzed offline.Result-s Among the 6 cynomolgus monkeys,4 of them completed all of the training process of DEC and 3 monkeys had successful acquisition of DEC.The average CR rate in the last training session reached ( 64.67 ± 2.00)%,(P<0.01);1 monkey only showed a high acquisition rate( 85.00%) at the first training session, and the low CR rate in the next training sessions with the average rate of 18.16%,suggesting that the DEC model was failed to established.The SR rates in 4 cynomolgus monkeys were low with average rate of 5.47%. Conclusion Although the DEC behavior training of the cynomolgus monkey is easy to be influenced by many inside or outside factors,DEC can be obtained under the condition of non surgery and proper braking.

Objective To investigate the therapeutic effect of human urinary kallidinogenase in patients with acute cerebral infarction and explore the mechanism by blood oxygen level dependent functional magnetic resonance imaging (BOLD-fMRI). Methods twenty-three patients with acute cerebral infarction were randomized into control group (n=11) and treatment group (n=12) to receive conventional treatment and additional human urinary kallidinogenase treatment for 12 to 14 days, respectively. BOLD-fMRI was performed, and the affected forefinger muscle strength and NIHSS score were recorded before and after the treatment. Results In the treatment group, the activated frequency and volume in the sensorimotor cortex (SMC) ipsilateral to the infarct increased significantly after the treatment (11/12 vs 4/12; 99.58±169.41 vs 105.17±197.23, P<0.05). The inerernent in the activated volume in the SMC was significantly greater in the treatment group than in the control group (94.42±51.57 vs 16.09±106.61, P<0.05). The forefinger muscle strength and NIHSS score in the treatment group improved significantly after treatment (2.67±1.44 vs 1.25±1.48; 4.92±2.94 vs 10.42±3.80, P<0.05), and the improvement in NIHSS score was significantly greater in the treatment group than in the control group (5.50±1.31 vs 3.18±2.48, P<0.05). Conclusion The therapeutic effect of human urinary kallidinogenase on acute cerebral infarction is mediated essentially by promoting the activation in the SMC in the functional area of the brain.

Adenocarcinoma ; pathology ; Ciliary Body ; Humans ; Iris Neoplasms ; pathology ; Lung Neoplasms ; pathology ; Male ; Middle Aged ; Uveal Neoplasms ; pathology

BACKGROUNDInverted internal limiting membrane (ILM) flap technique has recently been reported in a limited number of studies as an effective surgical technique for the management of large macular holes (MHs) with fair MH closure rates as well as gains in visual acuity. In the current study, longitudinal changes in multi-focal electroretinogram (mfERG) responses, best-corrected visual acuity (BCVA) and spectral-domain optical coherence tomography (SD-OCT) were evaluated in eyes with large MHs managed by this technique.

METHODSA prospective noncontrolled interventional study of eight patients (eight eyes) with large MHs (minimum diameter >400 μm) was conducted. All MHs were treated with pars plana vitrectomy and indocyanine green-assisted inverted ILM flap technique. SD-OCT images were used to assess the anatomical outcomes of surgery while BCVA and mfERG were used to evaluate the functional outcomes during a 3-month follow-up.

RESULTSAll patients underwent successful intended manipulation and translocation of the ILM flap without flap dislocation and achieved complete anatomical closure. Partial microstructural reconstruction, demonstrated on SD-OCT as restoration of the external limiting membrane and the ellipsoid zone, was observed in all cases as early as 1 month after surgery. Functionally, as compared to baseline, all patients showed improvements in BCVA and all but one in mfERG response during follow-up. However, Pearson's test revealed no significant correlations between BCVA and mfERG responses of the fovea and of the macular area at each evaluation time point.

CONCLUSIONSInverted ILM flap technique appears to be a safe and effective approach for the management of large idiopathic MHs with favorable short-term anatomical and functional results. Postoperative reconstruction of the microstructure generally shows good consistency with improvements in both BCVA and mfERG response, of which the latter might be a supplement for the former in postoperative functional follow-up.

Aged ; Aged, 80 and over ; Electroretinography ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Prospective Studies ; Retinal Perforations ; surgery ; Surgical Flaps ; Tomography, Optical Coherence ; Visual Acuity

BACKGROUNDMutations in the transforming growth factor beta I (TGFBI) gene cause several types of autosomal-dominant corneal dystrophies. We investigated the role of this gene in a Chinese family affected by granular corneal dystrophy (GCD).

METHODSFamily history and phenotypic data were recorded. The diagnosis of GCD was made on the basis of clinical evaluation. The genomic DNA was extracted from peripheral blood leukocytes. All the exons and flanking intron-exon boundary sequences of TGFbetaI were amplified by polymerase chain reaction (PCR) and screened for mutation by direct DNA sequencing.

RESULTSA heterozygous C to T transition at nucleotide c.1663 (CGG to TGG R555W) of TGFbetaI gene was present in two affected members but was absent in the rest of the family members.

CONCLUSIONA recurrent pathogenic R555W of TGFbetaI gene mutation is identified, which appears to be the predominant mutations causing GCD in different populations.

Adult ; Corneal Dystrophies, Hereditary ; genetics ; Female ; Humans ; Middle Aged ; Mutation ; Transforming Growth Factor beta1 ; genetics

OBJECTIVETo study the changes of dietary pattern among adult residents in different areas of Liaoning province from 1989 to 2006.

METHODSHealthy adults (6213 subjects) at age of 18 - 65 years from 480 households in three cities (Shenyang, Yingkou, Wafangdian) and three counties (Qingyuan, Huanren, Chaoyang) were selected with stratified multiple cluster random sampling. The information on nutrient intake of the subjects were collected from datasets of Chinese Health and Nutrition Survey conducted in 1989, 1991, 1993, 2000, 2004, and 2006. Different food intake, the nutrients intake percentages for recommended nutrition intake (RNI) and appropriate intake (AI), and the percentages of total energy and protein from grain, animal product, bean and its product were calculated to assess the residents' dietary pattern and nutrition status. The changes of dietary pattern among adult residents were analyzed.

RESULTSAmong the residents, there were a 38.1% of decreased intake for grain (from 601.9 to 372.5 g/d), 20.5% for potato (from 75.6 to 60.1 g/d), 25.1% for beans (from 38.7 to 29.0 g/d), and a 77.2% of increased intake for fish and shrimp (from 25.0 to 44.3 g/d), 36.9% for livestock and poultry (from 65.6 to 89.8 g/d), 47.7% for fruit (from 70.7 to 104.4 g/d), and intake of milk product (from 5.8 to 21.3 g/d), egg (from 17.3 to 35.7 g/d), vegetable (from 296.1 to 316.3 g/d) were also increased from 1989 to 2006. During the period, the intake percentages of energy and protein from grain decreased from 67.5% (8.7 MJ/12.8 MJ per day) to 51.5% (5.0 MJ/9.6 MJ per day) and from 72.0% (66.2 g/91.9 g per day) to 59.7% (45.3 g/75.9 g per day), and on the contrary those from animal products increased from 8.9% (1.1 MJ/12.8 MJ per day) to 14.8 (1.4 MJ/9.6 MJ per day) and from 15.9% (14.6 g/91.9 g per day) to 27.9% (21.2 g/75.9 g per day), respectively. In 2006, the intake of vitamin A (508.9 µg/d) was 67.6% of it's RNI, intake of vitamin B(2) (0.9 mg/d) was 64.6% and the intake of calcium (453.7 mg/d) was 52.5% of it's AI among the residents.

CONCLUSIONThe intake of plant food decreased and that of animal food increased from 1989 to 2006 and the dietary intakes of calcium, vitamin A, vitamin B(2) need to be increased among adult population of Liaoning province.

Adolescent ; Adult ; Aged ; China ; Diet Surveys ; Feeding Behavior ; Female ; Humans ; Male ; Middle Aged ; Nutritional Status ; Young Adult