Objective To observe the clinical effects of vitreoretinal surgery for myopic foveoschisis,evaluate the visual prognostic factors.Methods Twenty-seven eyes of 23 patients with myopic foveoschisis underwent vitreoretinal surgery were analyzed retrospectively. All the patients had undergone the examinations of best corrected visual acuity (BCVA),intraocular pressure,slit lamp microscope,direct ophthalmoscope,binocular indirect ophthalmoscope, A or B ultrasonic scan and optical coherence tomography (OCT).Follow-up duration varied from 6 to 36 months,with the mean of (19.4± 10.03)months.The visual acuity,retinal reattachment and the complications were observed.Logistic regression analysis was performed to predict the prognosis of visual acuity.Results Twenty-one eyes (77.78％) were anatomically reattached, six eyes (22.22％) were not anatomically reattached. Postoperative BCVA improved in 24 eyes (88.89％),reduced or remained unchanged in three eyes (11.11％). No ocular complications such as fundus hemorrhage,low or high intraocular pressure,endophthalmitis were found.The preoperative BCVA (OR =9.11,P =0.007),axial length (OR =0.31, P =0.038) and the photoreceptor inner and outer segment (IS/OS) junction line continuity (OR=4.32,P=0.001) are closely related to visual prognosis.Conclusions Vitreoretinal surgery is an effective approach to treat myopic foveoschisis with both anatomical and visual improvement.The preoperative BCVA,axial length and IS/OS line continuity are closely related to visual prognosis.

Objective:To study the masseter motor evoked potential(MEP)in patients with sleep bruxism(SB)and in healthy con-trols.Methods:30 subjects with SB and 30 healthy controls were included.MEPs were obtained by transcranial magnetic stimulation (TMS).Tests were done during daytime when the subjects were awake.The data were statistically analysed.Results:In the patients AMT was 55(52,55)%,latency of c-MEP (6.7 ±1.3)ms,the amplitude of c-MEP 0.19(0.15,0.29)mV,latency of r-MEP (2.3 ±0.4)ms,the central conduction time(CCT)4.4(3.3,5.2)ms.In the control subjects AMT was 52(52,55)%,latency of c-MEP (6.4 ±0.7)ms,the amplitude of c-MEP 0.23(0.17,0.28)mV,latency of r-MEP (2.4 ±0.4)ms,CCT 4.0 (3.4,4.4) ms.No significant difference was found between the 2 groups in the measurements evoked by TMS.Conclusion:The MEP after TMS in patients with SB is similar to that of healthy subjects,indicating that the excitability of the cortical motor system is not changed in bruxism subjects,at least when evaluated by TMS.

Objective To explore the imaging diagnostic value of gastrointestinal stromal tumor(GIST).Methods The retrospective study on GIST proved by operation and pathology in 11 cases was done.There were pneumobarium double contrast examination in 10 cases,CT scanning in 4 cases,superior mesenteric ateriography in 2 cases and fiberoptic endoscopy in 7 cases.Results The locations of tumors at gastric were 7 cases,intestinal 2,lipper and row oseophagus to gastric cardiac in 1,respectively.The detective rate of GIST was 100%,75%,100% and 100% respectively by pneumobarium double contrast examination,CT,arteriography and fiberoptic endoscopy.Conclusion Pneumobarium double contrast examination and fiberoptic endoscopy are important methods for diagnosis of GIST.CT and arteriography can better show the location of tumors and differential diagnosis of benign and malignant of tumor.

Objective:To investigate the clinical characteristics of renal injury caused by Guanxinsuhe pill(冠心苏合丸,including slander dutchanspipe root(青木香)).Methods:The clinical data of 27 patients with renal injury caused by Guanxinsuhe pill were studied.The clinical characteristics of the renal damage caused by Guanxinsuhe pill and the relationships between duration of illness,duration of taking Guanxinsuhe pill,anemia,renal atrophy and the progression of renal injury respectively were also analyzed.Results:Twenty-seven patients all taken Guanxinsuhe pill for suspicious coronary heart disease(CHD) and were diagnosed as chronic tubulointerstitial nephropathy accompanied with renal tubular acidosis,renal glucosuria and hyposthenuria after admission.Anemia was of more severity than renal dysfunction.Atrophic kidney occurred in 26 patients.The main complains were nonspecific symptoms including fatigue,anorexia,nausea,vomiting,etc.and accompanied with different degrees of chronic renal dysfunction.Twentyfour hours urinary protein excretions were 120-900 mg((490?250) mg).There were few red and white cells in uroscopy.Sixteen patients discontinuously took the Guanxinsuhe pill(one capsule,2-3 times a day) according to the pharmacopoeia for a long period.Ten patients took a dosage(two capsules,2-3 times a day) higher than that limited by the pharmacopoeia.Twenty-six patients took Guanxinsuhe pill discontinuously.One patient continuously took Guanxinsuhe pill until got renal dysfunction.The duration of taking Guanxinsuhe pill was 1-120 months(37.38?31.58),and the amount of 50-43 800 pills(4 576.00?8 830.54) were used,but the amount of pills of 3 cases was uncertain.The renal injury occurred within 30-216 months(95.41?56.74) after initiation of the drug taken.The renal injury obviously correlated with the anemia and the duration of taking Guanxinsuhe pill.Conclusion:Taking Guanxinsuhe pill can cause renal injury.The Guanxinsuhe pill dose indicated in pharmacopoeia also causes renal damage.The onset of renal injury is insidious.Most of the patients have the history of CHD and when the chronic nephropathy in most of such patients is detected,it is advanced to stage 5.The renal injury induced by Guanxinsuhe pill usually presents as chronic tubulointerstitial nephropathy,renal tubular dysfunction and anemia.Anemia is of more severity than renal dysfunction.The 24 hours urinary protein excretions of all the patients are lower than 1 000 mg daily.It is suggested to avoid taking Guanxinsuhe pill,adjust the prescription of Guanxinsuhe pill and do not use slander dutchanspipe root as an ingredient.

Objective: To compare pedicle screw internal fixation (PSIF) and subcutaneous anterior pelvic internal fixation (APIF) in the treatment of pelvic anterior ring fractures. Methods: A retrospective study was conducted of a consecutive series of 46 patients who had undergone surgery for anterior ring pelvic fractures at Department of Orthopaedic Surgery, The People’s Hospital of Henan Province from January 2014 to September 2018. Of them, 20 were treated by PSIF and 26 by APIF. In the PSIF group, there were 12 males and 8 females with an age of 47.8±2.4 years, and 6 cases of B1, 9 cases of type B2, 4 cases of type B3 and one case of type C1 by the Tile’s classification; in the APIF group, there were 16 males and 10 females with an age of 49.6±1.2 years, and 9 cases of B1, 8 cases of type B2, 5 cases of type B3, 2 cases of type C1 and 2 cases of type C2 by the Tile’s classification. The 2 groups were compared in terms of surgical or postoperative complications (including iatrogenic nerve injury, infection, implant failure and fracture nonunion), fracture reduction and therapeutic efficacy at the final follow-up. Results: There were no significant differences between the 2 groups of patients in their preoperative general data, indicating they were compatible(P>0.05). The 46 patients were followed up for 9 to 18 months (mean, 13.5 months). In the PSIF and APIF groups, the incidences of injury to the lateral femoral cutaneous nerve were 5.0%(1/20) and 7.7%(2/26), those of infection 5.0%(1/20) and 3.8%(1/26), and those of skin discomfort 5.0% (1/20) and 7.7%(2/26), respectively. According to the Matta criteria, the fracture reduction at the last follow-up was evaluated as excellent in 7, as good in 11 and as fair in 2 in the PSIF group, giving an excellent and good rate of 90.0%, and as excellent in 9, as good in 13 and as fair in 4 in the APIF group, giving an excellent and good rate of 84.6%. According to the Majeed criteria, the pelvic function at the final follow-up was evaluated as excellent in 10, as good in 7, as fair in 2 and as poor in one in the PSIF group, giving an excellent and good rate of 85.0%, and as excellent in 13, as good in 10, and as fair in 3 in the APIF group, giving an excellent and good rate of 88.5%. There were no significant differences between the 2 groups in all the comparisons above (P>0.05). The incidence of femoral nerve parasthesia was 0(0/20) for the PSIF group, significantly lower than that for the APIF groups (3.8%, 1/26) (P<0.05). Conclusion As both PSIF and APIF lead to similar clinical efficacy in the treatment of pelvic anterior ring fracture, either of them can be selected as an appropriate surgical procedure depending on the patient’s situation and surgeon’s experience.

Objective: To assess the value of detecting multiple rearrangements of MLL gene in children with acute mononuclear leukemia (AML). Methods: Eighty six children with AML were analyzed by fluorescence in situ hybridization (FISH), chromosomal karyotyping and multiplex reverse transcription-PCR (RT-PCR). Results: Cross signals were detected by FISH in 26 cases, and 30.2% were detected with MLL gene rearrangements. R-band karyotyping analysis revealed 14 translocations with breakages involving 11q23 and 5 other aberrations, which yielded an overall detection rate of 22.1%. Multiple RT-PCR has detected 12 fusion genes produced by the MLL translocation, which yielded a detection rate of 14.0%. A significant difference was found in the detection rate of the three methods (P<0.05). Conclusion Combined use of FISH, chromosomal karyotyping and multiplex RT-PCR can improve the detection of MLL gene rearrangements and provide important clues for clinical diagnosis, treatment and prognosis of AML.

OBJECTIVE: To explore the genetic basis of a pedigree affected with peroneal muscular atrophy. METHODS: Neuroelectrophysiological examination and whole exome sequencing were carried out for the proband, a six-year-and-ten-month-old boy. Suspected variant was verified in his family members through Sanger sequencing. Bioinformatic analysis was carried to predict the conservation of amino acid sequence and impact of the variant on the protein structure and function. RESULTS: Electrophysiological examination showed demyelination and axonal changes of motor and sensory nerve fibers. A heterozygous missense c.1066A>G (p. Thr356Ala) variant was found in exon 11 of the MFN2 gene in the proband and his mother, but not in his sister and father. Bioinformatic analysis using PolyPhen-2 and Mutation Taster software predicted the variant to be pathogenic, and that the sequence of variation site was highly conserved among various species. Based no the American College of Medical Genetics and Genomics standards and guidelines, the c.1066A>G (p. Thr356Ala) variant of MFN2 gene was predicted to be likely pathogenic (PS1+ PM2+ PP3+ PP4). CONCLUSION The heterozygous missense c.1066A>G (p.Thr356Ala) variant of the MFN2 gene probably underlay the disease in the proband, and the results have enabled genetic counseling and prenatal diagnosis for this family.
Charcot-Marie-Tooth Disease/genetics* ; Child ; China ; Drosophila Proteins/genetics* ; Exons ; Female ; Heterozygote ; Humans ; Male ; Membrane Proteins/genetics* ; Mutation ; Pedigree ; Pregnancy ; Whole Exome Sequencing

OBJECTIVE: To carry out cyto- and molecular genetic testing for a child featuring facial dysmorphism and attention deficit and hyperactive disorder. METHODS: The child was subjected to routine peripheral blood lymphocyte chromosomal karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism array (SNP-array) analyses. RESULTS: The child's facial dysmorphism included low-set ears, curly ear auricle, protuberance of eyebrow arch, nostril notch, short and flat philtrum and thin upper lip. SNP-array revealed that he has carried a 4.883 Mb deletion at 2q37. His chromosomal karyotype was ultimately determined as 45, XY, der(2;21) (2pter→ 2q37.3::21p13→ 21p10::20p10→ 20pter), der(20) (21qter→ 21q10::20q10→ 20qter). CONCLUSION A rare case of 2q37 deletion syndrome involving three chromosomes was discovered. Combined use of various cyto- and molecular genetic techniques is crucial for the diagnosis of chromosomal abnormalities with complex structures.
Child ; Chromosome Deletion ; Chromosomes ; Chromosomes, Human, Pair 2 ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Translocation, Genetic

OBJECTIVE: To explore the genetic basis for a child with clinically suspected 3-methylcrotonyl-coenzyme A carboxylase deficiency (MCCD). METHODS: Genomic DNA was extracted from peripheral blood samples of the proband and her parents. Whole exome sequencing was used to screen pathogenic variant in the proband. Suspected variant was verified by Sanger sequencing. Impact of the variant on the structure and function of protein product was analyzed by using bioinformatic software. RESULTS: Sanger sequencing showed that the proband has carried homozygous missense c.1342G>A (p.Gly448Ala) variant of the MCCC2 gene, for which her mother was a heterozygous carrier. The same variant was not detected in her father. The variant was predicted to be pathogenic by PolyPhen-2 and Mutation Taster software, and the site was highly conserved among various species. Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.1342G>A (p.Gly448Ala) variant of MCCC2 gene was predicted to be likely pathogenic(PM2+PP2-PP5). CONCLUSION The homozygous missense variant of the MCCC2 gene c.1342G>A (p.Gly448Ala) probably underlay the molecular pathogenesis of the proband. Genetic testing has confirmed the clinical diagnosis.
Carbon-Carbon Ligases/genetics* ; Child ; Female ; Humans ; Male ; Mutation, Missense/genetics* ; Pedigree ; Urea Cycle Disorders, Inborn/genetics*

BACKGROUNDNicotine may improve schizophrenia patient's cognitive deficit symptoms. This study was to explore the chronic effects of smoking on prepulse inhibition of the startle reflex (PPI) and P50 in the patients with first-episode schizophrenia (FES).

METHODSThe event-related potentials (ERP) recording and analysis instrument made by Brain Products, Germany, was used to detect PPI and P50 in 49 male FES patients (FES group, n = 21 for smokers and n = 28 for non-smokers) and 43 normal male controls (control group, n = 19 for smokers and n = 24 for non-smokers).

RESULTSCompared with normal controls, the FES group had prolonged PPI latency when elicited by single stronger stimulus (P < 0.05); the FES group had prolonged PPI latency and increased PPI amplitude (P < 0.05, 0.01) when elicited by weak and strong stimuli. The FES group had lower PPI inhibition rate than normal controls (P < 0.05). Compared with normal controls, the FES group had increased P50-S2 amplitude and increased amplitude ratio S2/S1 (both P <0.05). In the control group, the smokers had a tendency of increase in P50-S2 amplitude (P > 0.05) and shorter P50-S2 latency (P < 0.05) than the non-smokers. The smokers had higher PPI amplitude than the non-smokers (P < 0.05). In the FES group, the smokers had higher P50-S1 amplitude, shorter P50-S2 latency, and higher amplitude ratio S2/S1 than the non-smokers (P < 0.05, 0.01). The smokers had higher PPI amplitude than the non-smokers (P < 0.05).

CONCLUSIONSThere is obvious PPI and P50 deficits in schizophrenic patients. However, these deficits are relatively preserved in the smokers compared with the non-smokers, which suggests that long-term smoking might partially improve the sensory gating in schizophrenic patients. Whether this conclusion can be deduced to female patients requires further follow-ups.

Adult ; Case-Control Studies ; Evoked Potentials ; drug effects ; physiology ; Humans ; Male ; Reflex, Startle ; physiology ; Schizophrenia ; physiopathology ; Smoking ; adverse effects ; Young Adult