Objective To compare the safety and efficacy of direct and remedial rotational atherectomy in the treatment of heavily calcified coronary artery lesions.Methods We retrospectively reviewed 58 patients admitted in the Shanghai Chest Hospital and Liaocheng People Hospital from May 2012 to July 2015 who had received stent implantation and rotational atherectomy.The 58 patients were divided into two groups which were the direct atherectomy group (n =27) and the remedial atherectomy group (n =31).General clinical date,lesion and procedural characteristics,intraoperative complications,in-hospital and follow-up MACCE were compared between the two groups.Results There were no differences between the two groups in general clinical date intraoperative complications,amount of contrast agent used,proceduraltime,rates of in-hospital and follow-up MACCE.Nevertheless,compared with the direct artherectomy group,the remedial group had more number of balloon dilations during procedure [3 (1,5) vs.2 (1,2),P ＜ 0.001] and higher peak cardiac troponin levels [1.1 (0.3,3.0) μg/L vs.0.5 (0.1,2.3) μg/L,P =0.032].Conclusions Remedial rotational atherectomy with drug-eluting stent had the same safety and efficacy as direct atheretomy with drug-eluting stent in treating patients with heavily calcified coronary lesions.It is reasonable and safe to transform routine PCI to remedial rotational atherectomy when the 2.0 mm semi compliant balloon or/and 2.5 mm non-compliant balloon cannot pass through or dilate the lesions.

OBJECTIVETo identify the small supernumerary marker chromosomes (sSMC) and guide the genetic counseling and medical treatment in two patients with Turner syndrome.

METHODSHigh resolution GTG and C banding, SRY amplification by PCR and fluorescence in situ hybridization (FISH) on metaphase chromosomes were performed to the two patients.

RESULTSThe karyotypes of the two patients were 45, X [29]/46,X, +mar[31] and 45,X[71]/46,X, +mar[29] respectively. SRY test indicated SRY-positive for patient 1, whose sSMC was originated from chromosome Y. The karyotype was confirmed as 45,X[29]/46,X,idic(Y)(q10)[31]. ish idic(Y)(q10)(RP11-115H13x2) (SRY+) by FISH. While in patient 2, the sSMC was originated from chromosome X, whose karyotype was determined as 45, X[71]/46,X, r(X)(p11.23q21)[29]. ish r(X) (p11.23q21)(AL591394.11xAC092268.3).

CONCLUSIONUsing cytogenetic and molecular cytogenetic analyses, we have identified the sSMCs in two patients with Turner syndrome, which was helpful to the clinical diagnosis and treatment.

Adolescent ; Child ; Chromosomes, Human, X ; genetics ; Chromosomes, Human, Y ; genetics ; Female ; Genetic Markers ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Turner Syndrome ; genetics

OBJECTIVETo search for the dystrophin gene mutations of Duchenne muscular dystrophy (DMD) patients without gross deletions, in order to offer accurate genetic counseling and prenatal diagnosis for those families.

METHODSAll 79 exons of the dystrophin gene as well as its 5'-UTR and 3'-UTR of 14 Chinese DMD/Becker muscular dystrphy (BMD) patients without detectable gross deletions were screened by denaturing high performance liquid chromatography (DHPLC) and heteroduplex fragments were identified by subsequent sequencing.

RESULTSSeven causative point mutations, including two novel ones, were detected in 7 patients. Fourteen known polymorphisms and 7 unknown intronic variations were also detected. Five mothers of the patients were obligate carriers.

CONCLUSIONDHPLC is an efficient way of identifying point mutations and the female carriers in DMD families.

Adolescent ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Child, Preschool ; DNA Mutational Analysis ; Dystrophin ; genetics ; Exons ; genetics ; Female ; Genetic Counseling ; Genetic Testing ; methods ; Humans ; Introns ; genetics ; Male ; Muscular Dystrophy, Duchenne ; diagnosis ; genetics ; Point Mutation ; Polymorphism, Genetic ; Pregnancy ; Prenatal Diagnosis ; Sequence Deletion ; genetics

Objective To observe the effect of early enteral nutrition (EEN) on nutritional indicators and clinical outcomes in patients with severe heart failure undergoing mechanical ventilation. Methods Thirty-four patients with severe heart failure (grade Ⅲ-Ⅳ of cardiac function) and pulmonary infections undergoing mechanical ventilation admitted to intensive care unit (ICU) of Second Affiliated Hospital of Zhejiang University of Traditional Chinese Medicine from May 2017 to April 2018 were enrolled. They were randomly divided into EEN group and delayed enteral nutrition (DEN) group. Both groups were given routine treatment, including mechanical ventilation, improvement of cardiac function, anti-infection, protection of vital organ function, regulation of blood sugar and adjustment of electrolyte and acid-base balance. The patients in EEN group received enteral nutrition (EN) within 48 hours after ICU admission, and in DEN group, EN was started after the patients had spent the early stage of stress and had stable vital signs (48 hours after ICU admission). The changes in serum B-type natriuretic peptide (BNP), C-reactive protein (CRP), nutritional indicators and liver function indicators at ICU admission and 7 days after treatment were compared between the two groups. The time needed for patients to reach EN target, duration of mechanical ventilation, length of ICU stay, and the 28-day mortality were recorded, and complications were observed. Results There was no significant difference in serum BNP, CRP, nutritional indicators or liver function indicators at ICU admission between the two groups. After treatment for 7 days, BNP and CRP in both groups were decreased significantly as compared with those at ICU admission [BNP (ng/L): 592.1±370.9 vs. 2 517.7±1 163.4 in EEN group, 621.9±418.8 vs. 2 251.5±1 006.8 in DEN group; CRP (mg/L): 46.0±19.6 vs. 59.8±22.5 in EEN group, 40.5±18.8 vs. 61.2±24.6 in DEN group, all P < 0.05], pre-albumin (PA) and transferrin (TF) were significantly increased [PA (g/L): 0.18±0.05 vs. 0.15±0.06 in EEN group, 0.17±0.04 vs. 0.12±0.06 in DEN group; TF (g/L): 1.6±0.4 vs. 1.5±0.4 in EEN group, 1.7±0.5 vs. 1.4±0.5 in DEN group, all P < 0.05]. However, there was no significant difference in the above indicators after treatment between the two groups (all P > 0.05). There was no significant change in liver function after treatment in both groups. The EN treatment was successfully completed in both groups. Some patients developed abdominal distension and diarrhea in varying degrees, which were alleviated by slowing down the infusion rate, supplemented by gastrointestinal motility drugs and intestinal flora adjustment drugs. The time needed to reach EN target in EEN group was significantly earlier than that in DEN group (hours: 42.4±10.2 vs. 53.8±17.1, P < 0.05), the duration of mechanical ventilation (days: 14.2±8.7 vs. 13.4±7.9), the length of ICU stay (days: 17.8±6.7 vs. 18.3±5.6) and 28-day mortality [5.9% (1/17) vs. 11.8% (2/17)] showed no significant difference as compared with those in DEN group (all P > 0.05), and it did not increase the incidence of aspiration pneumonia [23.5% (4/17) vs. 17.7% (3/17), P > 0.05]. Conclusion EEN could help to achieve nutritional goals as soon as possible, improve the nutritional status of the body, and provide conditions and basis for further treatment of severe heart failure patients.