Objective To explore the early diagnosis clinical value of the serum surfactant protein-A (SP-A) against acute lung injury on HFMD (hand ,foot and mouth disease) in critically ill .Methods 60 cases of HFMD were selected in Xingtai People′s Hospital from August 2010 to December 2011 ,and they were divided into three groups .20 were ordinary cases ,28 were severe cases and 12 were critical cases(4 cases dead) .According to PaO2/FiO2 of ALI ,3 of critical cases (PaO2/FiO2 >300 mm Hg) were put into the non lung injury group and 9 (PaO2/FiO2 ≤300 mm Hg) were put into the lung injury group .Besides ,15 cases of healthy children were selected as the control group .The changes of the serum SP-A levels in these children were detected through ELISA methods after 24 h and 72 h .Results Contrasting the serum SP-A levels in the ordinary and severe groups separately with the ones in control group ,there was no statistical significance(P>0 .05) and so was contrasting the serum SP-A levels in the ordinary group with the ones in the severe group ,and the serum SP-A levels in the critical group after 24 h was significantly higher than the ordina-ry and severe groups (P<0 .05);the serum SP-A levels in the critical group after 72 h were significantly lower than ones after 24 h ,and lower than the ordinary and severe group(P<0 .05) .The serum SP-A levels in the non lung injury group (P>0 .05) ,con-trasting with ones in the control group ;but the serum SP-A levels in the lung injury group after 24 h were significantly higher than ones in the control group and in the non lung injury group (P<0 .05) .Conclusion Detection of the serum SP A has clinical value of the early diagnosis of acute lung injury on HFMD in critically ill ,which is beneficial to guide the clinical treatment .Meanwhile , it can reduce the mortality rate and the sequela ,and help to diagnose the condition of acute lung injury and treat it .

SUMMARY Regenerationofbonetissue,aswellasothertissues,requiresinvolvementandinteraction of cells,scaffolds and relevant growth factors,among which growth factors play a crucial role in maintai-ning the stability of microenvironment.Nel-like-type 1 molecule (NELL-1 ),a novel growth factor in tis-sue engineering,has been studied intensively in recent years.Researches mainly covered gene and pro-tein structure and their expression profiling,biological function,molecular mechanisms and disease rele-vance.NELL-1 expressed in embryonic tissue is essential for growth and development of bone tissue. NELL-1 presents excellent abilities of inducing bone and cartilage regeneration,especially with high spe-cificity to chondrocyte lineage.Compared with classic osteogenic growth factor bone morphogenetic pro-tein 2 (BMP-2),the process of osteogenesis interacted with NELL-1 exhibits stronger specificity,higher bone density and fewerside effects.Furthermore,a recent study shows synergistic effects of NELL-1 and BMP-2.NELL-1 enhances the osteogenic reaction induced by BMP-2 of cells and notably declines in-flammation response caused by BMP-2.This review evaluates the current research progress of the function and application of NELL-1 by the systematic method of evidence-based medicine.

Objective To explore the clinical and neuroimaging features of a frontotemporal dementia with parkinsonism linked to chromosome 17 ( FTDP-17 ) pedigree caused by mutation of microtubule-associated protein tau ( MAPT) gene.Methods The proband and one patient from a FTDP-17 pedigree were assessed through standardized clinical evaluation , neuropsychology assessment , video-electroencephalogrom ,MRI, genetic sequencing , as well as 18 F fludeoxyglucose ( FDG) SPECT for brain metabolism and 11 C 2β-carbomethoxy-3β-( 4-fluoro ) tropane ( CFT ) PET for dopamine transporter ( DAT ) distribution, respectively.Results A FTDP pedigree with 15 patients (6 still alive) was recruited to this study.The proband and one affected patient were genotyped and confirmed as MAPT c .1788T>G mutation. Parkinsonism was the first symptom for both two patients . Personality, speech changes and dementia accompanied with brain atrophy were developed at the later stage in one patient .The 18 F FDG SPECT studies illustrated asymmetric hypometabolism of the temporal , frontal lobes and basal ganglia in two patients . Regarding to the 11 C CFT PET, one affected patient showed asymmetric decreased uptake of tracer in basal ganglia regions.Conclusions FTDP-17 can display a confusingly broad clinical phenotype , with the parkinsonism as the first symptom . Brain glucose metabolism and DAT distribution could be potential biomarkers in early diagnosis of FTDP-17.

Objective To analyze the clinical characteristics of two patients with 3β-hydroxysteroid dehydrogenase deficiency and to explore their molecular genetic defects.Methods The clinical features and laboratory data of two patients were collected.The exons of HSD3B2 gene were amplified by PCR and sequenced by Sanger sequencing.Results Patient 1, aged 5 yrs old, was raised as a girl with 46, XY karyotype, presented with hyperpigmentation, female infant vulva, clitoral hypertrophy, and bilateral cryptorchidism;Patient 2, aged 11 yrs old, was raised as a girl at birth but as a boy after 1 yr old for known 46, XY karyotype, presented with hyperpigmentation, micropenis and severe hypospadias.Both patients had markedly elevated adrenocorticotropin and decreased cortisol.Two homozygous missense mutations in HSD3B2 gene were identified:conversions of codon Pro155 toLeu(p.P155L)inpatient1,andcodonAla82toThr(p.A82T)inpatient2,bothofwhichwerereportedforthe first time in China.Conclusion The patients with 3β-hydroxysteroid dehydrogenase deficiency in 46,XY karyotype mainly present with male pseudohermaphroditism and adrenocortical deficiency, and the diagnosis should rely on the steroids detection and HSD3B2 gene screening.

In recent years, more and more attention has been paid to the occurrence and harm of delirium, and intensive care unit (ICU) delirium has become a hot issue. The incidence of delirium in ICU patients is much higher than that of general wards, all kinds of complications caused by delirium and increased mortality should win enough attention of the clinicians. There is no uniform standard for the diagnosis and evaluation of ICU delirium, which is a major problem that affects clinicians in the early diagnosis and assessment of prognosis. By reviewing the domestic and international researches of ICU delirium, the latest progress of diagnostic and assessment instruments for delirium in ICU is stated, which provides an important basis for the early identification and diagnosis of delirium in ICU.

Objective:To analyze the drug sensitivity of human lung adenocarcinoma stem cells (LASC) to cisplatin (DDP) and carboplatin (CBP). Methods:Human lung adenocarcinomaic cells SPC-A1,AG,and CPA-Y2 were treated with DDP and CBP. The cell viability of cells was detected by CCK-8 assay. The phenotypic characteristics of drug surviving cells(DSCs)were determined by immunofluorescence staining. The LASC population was then separated by magnetic-activated cell sorting method. The LASC in DSCs was traced by using green fluorescence protein (GFP). The drug sensitivity of DSCs to DDP and CBP was analyzed.Results:The LASC exhibited the phenotypes of bronchioalveolar stem cells (BASC, OCT4~+CCSP~+SP-C~+). After mixture of CD221~+LASC with CD221~-lung adenocarcinoma differentiated cells, the DSC population showed OCT4~+BASC phenotypes. These DSCs were significantly resistant to DDP and CBP.Conclusion:LASC has a high resistance to DDP and CBP. This may be the reason for tumor recurrence after chemotherapy.

Objective To investigate the clinical characteristics and molecular pathological mechanism of McCune-Albright syndrome ( MAS) in order to provide a guidance for the precision medicine of MAS. Method The clinical data and genetic findings of 41 patients with MAS were analyzed retrospectively. Results (1) MAS girls had the phenotype of peripheral precocious puberty with premature sexual development and high estradiol, low LH and FSH, and the increased volume of uterus and ovary. ( 2 ) In 41 MAS cases, there were 17 cases with GNAS1 gene mutation, and the total positive rate was 41. 5%, of which the classic triad was 66. 7%, two signs 56. 3%, and 12. 5% in only one classic sign. GNAS1 gene mutation was found in 78. 6% of patients with polyostotic fibrous dysplasia of bone, while only 55. 0% in patients with cafe au lait skin spots. Children with precocious puberty and fibrous dysplasia of bone is an important basis for clinical diagnosis of MAS, but cafe au lait skin spots does not seem to be the specifical manifestation of MAS. Conclusion Clinically MAS was lack of typical clinical manifestations, and the most important clinical weight factor for the diagnosis of MAS was peripheral precocious puberty with fibrous dysplasia of bone. GNAS1 gene screening may be helpful to improve the clinical accurate diagnosis of MAS.

Objective:The purpose of this study was to investigate the evaluating value of modified critical care ultrasonic examination(M-CCUE) scheme for the etiological diagnosis of shock in ICU patients.Methods:The prospective study collected relevant clinical data of various shock patients admitted to the Department of Intensive Care Medicine, Henan Provincial People's Hospital from May 2020 to July 2021, including hemodynamic、blood indicators、organ/tissue perfusion and prognostic evaluation indicators.All selected patients completed the initial M-CCUE assessment within 30 minutes, were scored according to the M-CCUE score system and related data results were analyzed.Results:Ninety-three patients were included in this study,Two of them were not completed the M-CCUE assessment due to emergency treatment immediately after entering our department, and five were excluded due to inconsistent ultrasound judgments by the two physicians. In the end, a total of 86 patients were enrolled in the group. In patients applied with M-CCUE scheme,time to preliminary diagnosis and final diagnosis were (13.02±3.15)min and (67.70±20.20)min respectively, the accuracy of diagnosis was 83.7%. Among them, distributed shock accounted for 60.4%, hypovolemic shock accounted for 25.6%, cardiogenic shock and obstructive shock accounted for 3.5%, and mixed shock accounted for 7%; MCS is (13.27±4.91), M-CCUE scheme had the high sensitivity and specificity for the diagnosis of distributed shock (sensitivity 91.2%, specificity 93.9%), hypovolemic shock (sensitivity 96.0%, specificity 96.7%), cardiogenic shock (sensitivity 85.7%, specificity 98.7%) and obstructive shock (sensitivity 60.0%, specificity 100%); MCS has a good positive correlation with APACHEⅡ score ( r=0.861, P<0.001), and has no correlation with ICU cost ( r=0.012, P=0.915). There is no significant difference in MCS between the 28d death group and the recovery group ( P=0.391). Conclusions:For shock patients admitted to ICU with unknown etiology, the initial diagnosis of the cause of the M-CCUE program takes less time, has a higher correct diagnosis rate, sensitivity and specificity, and its quantitative evaluation results can predict the patient's criticality.

OBJECTIVE: To explore the pathogenesis of a 46,XY female with sex reversal. METHODS: Peripheral blood lymphocytes of the patient were subjected to G-banding karyotype analysis. Sex chromosomes were analyzed with fluorescence in situ hybridization (FISH). SRY gene was analyzed by Sanger sequencing. The whole exome of the patient was subjected to next generation sequencing. Copy number variations (CNVs) of the NR0B1, SF1, SRY, SOX9 and WNT4 genes were validated by multiplex ligation-dependent probe amplification (MLPA). RESULTS: The patient had a 46,XY karyotype. FISH analysis showed that her sex chromosomes were X and Y. No mutation was found in the SRY gene, and no pathogenic mutation was detected in her exome. However, a duplication spanning approximately 67.31 kb encompassing the MAGEB1, MAGEB3, MAGEB4 and NR0B1 genes at Xp21, was predicted by software analysis. MLPA confirmed duplication of the NR0B1 gene in the patient and her mother. CONCLUSION A duplication fragment of Xp21 encompassing the NR0B1 gene in the 46,XY female with sex reversal is transmitted from her asymptomatic carrier mother. Attention should be paid towards the insidious nature and high morbidity of this duplication.
DAX-1 Orphan Nuclear Receptor ; genetics ; DNA Copy Number Variations ; Female ; Gene Duplication ; Genes, sry ; Gonadal Dysgenesis, 46,XY ; genetics ; Humans ; In Situ Hybridization, Fluorescence

OBJECTIVETo explore the genetics mechanism for the phenotypic variability in a patient carrying a rare ring chromosome 9.

METHODSThe karyotype of the patient was analyzed with cytogenetics method. Presence of sex chromosome was confirmed with fluorescence in situ hybridization. The SRY gene was subjected to PCR amplification and direct sequencing. Potential deletion and duplication were detected with array-based comparative genomic hybridization (array-CGH).

RESULTSThe karyotype of the patient has comprised 6 types of cell lines containing a ring chromosome 9. The SRY gene sequence was normal. By array-CGH, the patient has carried a hemizygous deletion at 9p24.3-p23 (174 201-9 721 761) encompassing 30 genes from Online Mendelian Inheritance in Man.

CONCLUSIONThe phenotypic variability of the 9p deletion syndrome in conjunct with ring chromosome 9 may be attributable to multiple factors including loss of chromosomal material, insufficient dosage of genes, instability of ring chromosome, and pattern of inheritance.

Chromosomes, Human, Pair 9 ; genetics ; Female ; Humans ; Infant ; Karyotype ; Male ; Ring Chromosomes ; Sex Chromosome Disorders ; genetics