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1.
Mater Sci Eng C Mater Biol Appl ; 106: 110188, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31753331

RESUMO

The traditional electrospinning process produces dense two-dimensional (2D) nanofiber (NF) sheets that limit cell infiltration and proliferation. Our previous study demonstrated that 3D NF sheets could be formed on an NF collector surface mounted with multiple movable needles through the corona discharge. In this study, we developed a programmed electrospun 3D NF collector. It can precisely control the moving speed of NF collector during electrospinning; thereby fabricating 3D NFs with desired microstructures (pore size, pore volume, and interconnectivity). Four types of polycaprolactone (PCL) 3D NF matrices with different microstructures can be obtained concurrently on the NF collector surface, which are set by different forward moving speed of the NF collector device: NF-zero (no move, as control), NF-low (0.085 mm/min), NF-mid (0.158 mm/min) and NF-high (0.232 mm/min). A linear increase of the NF sheet thickness (from 0.21 mm to 0.91 mm) was recorded with accelerating collector movement. Quantitative analysis using scanning electron microscopy (SEM), micro-computed tomography (µ-CT), and confocal laser scanning microscopy (CLSM) showed a monotonic increase of pore size and porosity with the increase of collector moving speeds. The collector movement also impacted the crystallinity and mechanical properties of the NFs. When prepared at high collector speed, the NFs showed improved proliferation and differentiation (p < .05) of pre-osteoblastic MC3T3 cells compared to the NFs from the static collector. A programmed NF collector device allows for the reproducible, precise and continuous fabrication of 3D NFs with tailorable geometry and microstructures. This simple, controllable, one-step process could promote the clinical translation of electrospun NFs in tissue engineering and regenerative medicine.

2.
J Affect Disord ; 260: 26-31, 2020 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-31493635

RESUMO

BACKGROUND: In recent years, there have been increasing calls for integrating late-life mental health services into primary care in China, but data on the epidemiology of depressive disorders in older adults receiving primary care are very limited. This study examined prevalence, correlates and recognition of depressive disorders among Chinese older adults receiving primary care. METHODS: A total of 752 older patients (65+ years) were consecutively recruited from 13 primary care clinics in Wuhan, China, and interviewed with the Chinese Mini-international Neuropsychiatric Interview 5.0. RESULTS: One-fifth (20.3%) of the older adults met DSM-IV criteria for depressive disorders during the month prior to the interview: 10.2% had major depression, 4.8% had dysthymia, and 5.3% had minor depressive disorder. The recognition rate of older patients with depressive disorders was 1.3% only. In multiple logistic regression analysis, factors significantly associated with depressive disorders included female gender (OR = 1.61), an education of primary school and below (OR = 1.69), poor financial status (OR = 2.44), poor or fair family relationship (OR = 1.66), loneliness (OR = 1.77), hypertension (OR = 1.91), heart disease (OR = 2.02), chronic gastric ulcer (OR = 6.01), and arthritis (OR = 3.55). LIMITATIONS: Older adults from primary care clinics of economically underdeveloped regions of China were not included. CONCLUSIONS: Depressive disorders are prevalent but poorly recognized in Chinese older adults receiving treatment in primary care clinics. In order to improve the emotional well-being and health of older adults, it is time to integrate the management of common mental disorders into primary healthcare in China.

3.
J Affect Disord ; 260: 222-231, 2020 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-31505400

RESUMO

BACKGROUND: Cognitive reserve (CR) reflects the resilience of the brain to cope with neuropathological changes and minimize clinical manifestations. In the present study, we explore the association between CR and cognitive and psychosocial functioning, and examined the potential moderating role of CR in patients with bipolar disorder (BD). METHODS: One hundred and twenty-five outpatients with BD type I and sixty healthy individuals were recruited. All participants were assessed with a neuropsychological battery examining attention and processing speed, working memory, visual memory and executive functioning, the Global Assessment of Functioning scale and the Cognitive Complaints in Bipolar Disorder Rating Assessment. Proxies for cognitive reserve included premorbid intelligence and educational level. RESULTS: Patients with bipolar disorder presented with worse cognitive performance and psychosocial functioning than healthy controls. Multiple regression models revealed that educational level negatively associated with all assessed domain-specific cognition scores and premorbid intelligence predicted attention and processing speed and psychosocial functioning. Notably, premorbid intelligence significantly moderated the associations between the number of episodes (total, hypo/manic and depressed) and neurocognitive functioning, and the educational level also moderated the relationships between the numbers of hypo/manic and total episodes and subjective cognitive functioning. CONCLUSIONS: Cognitive reserve contributes to functional outcomes in patients with BD and may emerge as a key factor contributing to the course and prognosis of patients with BD. In the future, cognitive reserve must be considered in both research and clinical interventions related to bipolar disorder.

4.
Mater Sci Eng C Mater Biol Appl ; 107: 110204, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31761242

RESUMO

Using a novel microwave-assisted hydrothermal (MW) process we created nano-scale anatase on micro-arc-oxidized (MAO) titanium surface. The morphology/crystallinity and surface potential of the anatase which altered by Ca/P ions concentrations and pH in the MW medium were characterized by atomic force microscopy, Kelvin probe force microscopy, Raman spectrometer, and x-ray photoelectron spectroscopy. The surface of MWDD (processed in DD water) and MWCP (in neutral pH medium with Ca/P ions) are covered with anatase spikes, which enhance their nano-roughness, hydrophilicity, and possess lower surface potential than other groups. The nano-precipitates on surface of MWCP9 and MWCP11 (processed in medium containing Ca/P ions at pH 9 or pH 11) were mainly amorphous anatase with less P ions. The protein adsorption of negatively charged bovine serum albumin was higher in MWDD and MWCP groups which possess lower surface potential. The adsorption of positively charged histones on the surface of MWCP11 was higher compared to the other groups. The osteogenic characterizations of D1 mice bone marrow mesenchymal stem cells co-cultured for 1, 7, and 14 days were measured by ALP and osteopontin assays. Although MW groups revealed comparable viability of D1 mice bone marrow mesenchymal stem cells to MAO group, their superior hydrophilicity and higher protein adsorption, thus regulating the differentiation of osteoprogenitor stem cells demonstrating higher ALP and osteopontin secretion after 7 days and 14 days. The nanoscale topography, crystallinity and surface potential change the hydrophilicity and protein adsorption on the MW treated titanium surface, thus regulating the differentiation of osteoprogenitor stem cells in vitro.

5.
Chemosphere ; 239: 124686, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31494321

RESUMO

Oxidative degradation of aniline in aqueous solution was performed by the sono-activated peroxydisulfate coupled with PbO process, wherein a dramatic synergistic effect was found. Experiments were carried out in the batch-wise mode to investigate the influence of various operation parameters on the sonocatalytic behavior, such as ultrasonic power intensity, peroxydisulfate anion concentrations and PbO dosages. According to the scavenging effect of ethanol, methanol and tert-butyl alcohol, the principal oxidizing agents were presumed to be sulfate radicals descended from peroxydisulfate anions, activated via ultrasound or sonocatalysis of PbO. Based on the results attained from gas chromatograph-mass spectrometer, it was hypothesized that aniline was initially oxidized into iminobenzene radicals, followed with formation of nitrosobenzene, p-benzoquinonimine and nitrobenzene respectively. Condensation of nitrosobenzene with aniline generated azobenzene. Phenol was detected as one of degradation intermediates, which was sequentially converted into hydroquinone and p-benzoquinone.

6.
J Cell Physiol ; 235(2): 1674-1688, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31432509

RESUMO

Renal interstitial fibrosis is a key factor in the development of chronic renal diseases, possibly leading to uremia. The present study conducted aimed to assess the hypothesis whether keratin 1 (KRT1) silencing could suppress kidney interstitial fibrosis and glomerular sclerosis via the Notch pathway to alleviate uremic symptoms. Differentially expressed genes associated with uremia were identified using the gene expression omnibus (GEO) database. Uremic rat models were established, in which short hairpin-RNA against KRT1, activators, and inhibitors of the Notch pathway were transfected. To further validate the mechanism of KRT1 in uremia, KRT1 expression, cell apoptosis, glomerular area (GA), and glomerular capillary volume (GV), the score of glomerular sclerosis, and tubulointerstitial injury were assayed and investigated. GEO database revealed that KRT1 was upregulated in uremia and regulated the Notch pathway. GA, GV, cell apoptosis, glomerular sclerosis, and tubulointerstitial injury were typically located in more elevated levels of uremia in rats. KRT1 silencing and Notch pathway inhibition decreased the expression of Jagged1, Notch1, NICD1, Hey1, Hes1, α-SMA, and FN, which further resulted in decreased cell apoptosis, GA, GV, the score of glomerular sclerosis, and tubulointerstitial injury. Subsequently, the effect of KRT1 silencing on uremia was no longer evident once the Notch pathway was activated. The co-localization of high expression KRT1 and Notch1 was found in uremia. In summary, the results identified KRT1 as a key regulator in uremia progression, and KRT1 silencing can suppress glomerular sclerosis and tubulointerstitial injury via inactivation of the Notch pathway in uremic rats.

7.
Ultrason Sonochem ; : 104875, 2019 Nov 13.
Artigo em Inglês | MEDLINE | ID: mdl-31796329

RESUMO

Episodic release of bioactive compounds is often necessary for appropriate biological effects under specific physiological conditions. Here, we aimed to develop an injectable, biocompatible, and thermosensitive hydrogel system for ultrasound (US)-triggered drug release. An mPEG-PLGA-BOX block copolymer hydrogel was synthesized. The viscosity of 15 wt% hydrogel is 0.03 Pa*s at 25 °C (liquid form) and 34.37 Pa*s at 37 °C (gel form). Baseline and US-responsive in vitro release profile of a small molecule (doxorubicin) and that of a large molecule (FITC-dextran), from the hydrogel, was tested. A constant baseline release was observed in vitro for 7 d. When triggered by US (1 MHz, continuous, 0.4 W/cm2), the release rate increased by approximately 70 times. Without US, the release rate returned to baseline. Baseline and US-responsive in vivo release profile of doxorubicin was tested by subcutaneous injection in the back of mice and rats. Following injection into the subcutaneous layer, in vivo results also suggested that the hydrogels remained in situ and provided a steady release for at least 7 d; in the presence of the US-trigger, in vivo release from the hydrogel increased by approximately 10 times. Therefore, the mPEG-PLGA-BOX block copolymer hydrogel may serve as an injectable, biocompatible, and thermosensitive hydrogel system that is applicable for US-triggered drug release.

8.
Sci Rep ; 9(1): 18349, 2019 Dec 04.
Artigo em Inglês | MEDLINE | ID: mdl-31797938

RESUMO

Understanding the toxicity of ionic liquids (ILs) is crucial in the search of greener chemicals. By comparing in vivo toxicity and in vitro interactions determined between compounds and biomimetic lipid membranes, more detailed toxicity vs. structure relation can be obtained. However, determining the interactions between non-surface-active compounds and liposomes has been a challenging task. Organisational changes induced by ILs and IL-like spirocyclic compounds within 1,6-diphenyl-1,3,5-hexatriene-doped biomimetic liposomes was studied by steady-state fluorescence anisotropy technique. The extent of organisational changes detected within the liposome bilayers were compared to the toxicity of the compounds determined using Vibrio Fischeri bacteria. Four liposome compositions made of pure 1-palmitoyl-2-oleyl-sn-glycero-3-phosphocoline (POPC) and mixtures of POPC, 1-palmitoyl-2-oleyl-sn-glycero-3-phosphoserine (POPS), and cholesterol (Chol) were tested as biomimetic models. Changes observed within the POPC/POPS/Chol 55:20:25 bilayers correlated the best with the toxicity results: ten out of twelve compounds followed the trend of increasing bilayer disorder - increasing toxicity. The study suggests that the toxicity of non-surface-active compounds is dependent on their ability to diffuse into the bilayers. The extent of bilayer's organisational changes correlates rather well with the toxicity of the compounds. Highly sensitive technique, such as fluorescence anisotropy measurements, is needed for detecting subtle changes within the bilayer structures.

9.
Resuscitation ; 2019 Nov 28.
Artigo em Inglês | MEDLINE | ID: mdl-31786236

RESUMO

AIM: We attempted to examine the association between intra-arrest blood glucose (BG) level and outcomes of in-hospital cardiac arrest (IHCA). The interaction between diabetes mellitus (DM) and BG level as well as between dextrose administration and BG level were investigated. METHODS: This single-centred retrospective study reviewed IHCA patients between 2006 and 2015. Patients with measured intra-arrest BG levels were included. Multivariable logistic regression analyses were conducted. Generalised additive models were used to identify appropriate cut-off points for continuous variables. Interactions between independent variables were assessed during the model-fitting process. RESULTS: Among the 580 included patients, 34 (5.9%) achieved neurologically intact survival. There were 197 DM patients (34.0%). The mean intra-arrest BG level was 191.5 mg/dl, with 57 patients (9.8%) experiencing hypoglycaemia (BG level≤70 mg/dl). A total of 165 patients (28.4%) received a dextrose injection. An intra-arrest BG level≤150 mg/dl was inversely associated with favourable neurological outcomes at hospital discharge (odds ratio [OR]: 0.28, 95% confidence interval [CI]: 0.11-0.73; p-value = 0.01). In analyses of interactions, non-DM × BG level≤168 mg/dl was inversely associated with favourable neurological outcomes (OR: 0.30, 95% CI: 0.11-0.80; p-value = 0.02). There were no significant interactions between BG level and dextrose administration. CONCLUSION: IHCA patients with intra-arrest BG level≤150 mg/dl had worse neurological recovery. Intra-arrest hypoglycaemia might be a marker of critical illness. Dextrose administration was not shown to improve outcomes of IHCA patients with intra-arrest BG level≤150 mg/dl, indicating the need to develop new therapeutics other than dextrose administration for these patients.

10.
J Phys Chem Lett ; 2019 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-31786927

RESUMO

In this work we have combined machine learning techniques with our recently developed multi-layer energy-based fragment method for studying excited states of large systems. The photochemically active and inert regions are separately treated with the complete active space self-consistent field method and the trained models. This method is demonstrated to provide accurate energies and gradients leading to essentially same excited-state potential energy surfaces and nonadiabatic dynamics compared with full ab initio results. Furthermore, in conjunction with the use of machine learning models, this method is highly parallel and exhibits low-scaling computational cost. Finally, the present work could encourage the marriage of machine learning with fragment-based electronic structure methods to explore photochemistry of large systems.

11.
Kaohsiung J Med Sci ; 2019 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-31785063

RESUMO

An in vitro investigation was performed to evaluate the bonding characteristics of porcelain fused to metal (PFM)/commercially pure titanium (cp Ti, grade II) in three firing atmospheres of under vacuum and using two noble gases argon (Ar) and helium (He). Three groups of porcelain veneers firing under vacuum, Ar, and He were prepared to evaluate the bonding of porcelain fused to the cold-rolled cp Ti. The bond strength of PFM durability by a three-point bending test, phases, microhardness of cp Ti after firing processes, and fractures were measured and evaluated. Results show the microhardness of cp Ti in group of porcelain firing under He atmosphere was significantly lower than that of the two other groups, which were in vacuum and Ar (P < .05). X-ray diffraction showed the He group produced in relatively small amounts of TiO2 and TiO oxides than other groups but featured relatively high quantity of airhole defects in the porcelain body leading to the lowest bond strength. The Ar group presented the highest bond strength of comparing with the groups under vacuum and using He (P < .05). Although the firing processes in He could efficiently prevent the diffusion of oxygen into Ti, the porcelain-cp Ti bond strength using Ar protective atmosphere presented the advantage to achieve clinical requirement because porcelain firing under He revealed prominent voids and defects within the body of porcelain.

12.
Cell Rep ; 29(10): 3223-3234.e6, 2019 Dec 03.
Artigo em Inglês | MEDLINE | ID: mdl-31801085

RESUMO

Major depression is a serious global health concern; however, the pathophysiology underlying this condition remains unclear. While numerous studies have focused on brain-specific mechanisms, few have evaluated the role of peripheral organs in depression. Here, we show that the liver activates an intrinsic metabolic pathway that can modulate depressive-like behavior. We find that chronic stress specifically increases the protein levels of monomeric and oligomeric soluble epoxide hydrolase (sEH), a key enzyme in epoxyeicosatrienoic acid (EET) signaling, in the liver. Hepatic deletion of Ephx2 (which encodes sEH) results in antidepressant-like effects, while the hepatic overexpression of sEH induces depressive phenotypes. The activity of sEH in hepatocytes modulates the plasma levels of 14,15-EET, which then interacts with astrocytes in the medial prefrontal cortex to mediate the effects of hepatic Ephx2 deletion. These results suggest that targeting mechanisms underlying the hepatic response to stress would increase our therapeutic options for the treatment of depression.

13.
Int J Biol Macromol ; 2019 Nov 14.
Artigo em Inglês | MEDLINE | ID: mdl-31734373

RESUMO

Immunosuppression refers to the suppression of the immune response. The immune function of immunocompromised people is not enough to resist bacterial, viral, fungal and other infections, leading to a series of diseases. A large number of experimental data show that polysaccharide compounds are immune modulators, which can enhance the body immunity with little toxic. Meanwhile, it can reduce the side effects of commonly used immunosuppressants, such as cytotoxicity, decreased ability of the body to fight infection, and inhibition of the reproduction of bone marrow hematopoietic cells. It can be used as oral or injectable drugs. In this study, a purified polysaccharide was primarily extracted from the flowers of Apios americana Medik (AAM), which can improve the immunosuppression induced by cyclophosphamide (CTX). The immunoenhancement effect of AFP was evaluated by measuring the body weight, immune organ index, cytokine secretion and antibody generated levels of CTX-induced mice. Our results showed that AFP could significantly improve the above immune indexes, which indicated AFP could alleviate immunosuppression induced by CTX. The study provided a theoretical basis for the promotion, development and application of AAM as a newly introduced food material.

14.
Clin Gastroenterol Hepatol ; 17(13): 2825, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31757367
15.
Food Chem ; : 125853, 2019 Nov 06.
Artigo em Inglês | MEDLINE | ID: mdl-31757487

RESUMO

Bovine α-lactalbumin (α-Lac) allergy is a common health problem. This study assesses the allergenic reactivity and the structural properties of α-Lac after protein modification (glycation, phosphorylation and acetylation) by ELISA, cells experiment and high-resolution mass spectrometry. Three modified methods significantly reduced the IgE/IgG-binding capacity, and the release of histamine and interleukin-6, and changed the conformational structure of α-Lac. α-Lac was glycated at K13, K16, K94, K98, and K108, phosphorylated at Y18, S22, Y103, and S112, and acetylated at K13, T33, S34, T38, S47, K62, S69, S70, K108, and K114, respectively, leading to masking the linear epitopes of α-Lac. Therefore, the decrease of allergenic reactivity of α-Lac induced by glycation, phosphorylation and acetylation depends upon not only the shielding effect of their modified sites, but also the change of conformational structure. This study confirmed that protein modification was a promising method for decreasing the allergenic reactivity of allergic proteins.

16.
Chin Med J (Engl) ; 2019 Nov 22.
Artigo em Inglês | MEDLINE | ID: mdl-31764180

RESUMO

BACKGROUND: Lung transplantation (LT) has been demonstrated as the only effective therapy for patients with end-stage lung diseases. Increasing listed lung transplant candidates and expanding volumes of lung transplant centers across China require well-organized programs and registry data collection based on the large population. This study aimed to summarize and analyze the data of LT development in China. METHODS: We retrospectively collected and analyzed data from the China Lung Transplantation Registry (CLuTR). Key data were reported from the registry with transplant types, indications, donor and recipient characteristics, outcomes and survival. The survival <30 days, 1-year and 3-year survival rates were estimated with risk factors identified. RESULTS: CLuTR contained data from 1053 lung transplants performed through January 1st, 2015 to December 31st, 2018 reported by 18 registered transplant centers. The largest category of diagnosis before transplantation was idiopathic interstitial pneumonitis. The total <30 days, 1-year and 3-year survival rates in CLuTR were 81.45%, 70.11%, and 61.16% with discrepancy by indications. Large proportion of recipients who were more than 60 years old required higher standard of care. Infection-related complications resulted in more death events in the early post-surgery periods. New York Heart Association grading at listing, extra-corporeal membrane oxygenation usage peri-transplantation, allograft dysfunction (primary graft dysfunction >Grade 0), renal insufficiency (estimated glomerular filtration rate <60 mL·min·1.73 m), were independently associated with a higher risk for 3-year mortality in the entire cohort. CONCLUSIONS: Facing more end-stage of lung diseases and comorbidities, this study analyzed the outcomes and survival of LT recipients in China. Further prospectively stratified analyses with longer follow-up will be needed.

17.
J Craniofac Surg ; 2019 Nov 21.
Artigo em Inglês | MEDLINE | ID: mdl-31764558

RESUMO

We applied the classical Chinese wood joinery mortise-and-tenon principle to repair widening surface scars caused by incision tension. Along the outer margin of surface scars, the top half of the scar tissue was cut and removed. The authors designed serial tenon structures on the retained dermal surface of the scar and a series of corresponding mortise structures in the dermal tissue on the opposite side of the incision. Finally, the mortise and tenon structures were integrated and sutured, resulting in tensionless closure. Thirty-two surface scars were repaired with this method. The follow-up time ranged from 6 to 24 months. The incisions healed in the form of fine linear scars. No widening scars were observed in this series. The proposed mortise-and-tenon scar repair technique can effectively reduce incision tension and thus reduce scar formation at the incision site. The authors recommend this technique as an alternative effective method for revising widening surface scars.

18.
Chem Biol Interact ; 315: 108893, 2019 Nov 07.
Artigo em Inglês | MEDLINE | ID: mdl-31706954

RESUMO

This study aimed to investigate the effects of teaghrelin, an active ingredient of Chin-shin oolong tea, on murine C2C12 myoblast cells. Under high serum conditions, teaghrelin inhibited C2C12 cell proliferation, indicating a cell cycle arrest and cessation of proliferative progression. Teaghrelin promoted pro-differentiation of C2C12 cells as evidenced by a progressively elongated morphology, as well as the induction of muscle specific myogenin, myosin heavy chain (MHC), and MyoD. The formation of multinucleated myotubes, and the increase of MHC-positive immunoreactivity within the myotubes, further reflected a complete differentiation and maturation of the contractile skeletal muscle cells induced by teaghrelin. Like ghrelin, teaghrelin attenuated dexamethasone-decreased myotube diameter, indicating its protective effects against skeletal muscle atrophy. Additionally, the expressions of Atrogin-1 and MuRF-1 ubiquitin E3 ligase were reduced. In conclusion, the results highlight a possibility of developing teaghrelin as a functional food for the prevention or therapeutic treatment of disease-associated skeletal muscle atrophy.

19.
Oxid Med Cell Longev ; 2019: 7902874, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31772709

RESUMO

Generally, depression is the result of complex gene-environment interactions. Recent studies have showed that the gut microbiota can affect brain function through the microbiota-gut-brain axis. However, the underlying mechanism of the microbiota and potential influence of depression remain elusive. We aimed to determine how gut microbiome contributes to the process of depression and further influences the host. Chronic unpredictable mild stress (CUMS) is used to establish a depression model. Fecal microbiota transplant (FMT) is applied to illustrate that depression can be transmitted via microbiota, and metabolism of liver analysis is applied to demonstrate further influence to the liver. We also analyzed the astrocyte activation in the brain by immunofluorescence (IF). Here, we show that the structure of the gut microbiome changes markedly after rats undergo CUMS. Notably, we found that the ratio of Lactobacillus to Clostridium can be a vital index for the development of depression. Depression-like behavior can be duplicated through FMT. Moreover, increased zonulin and fatty acid binding protein-2 indicates that gut barrier integrity is broken after FMT. Subsequently, metabolomics shows that liver metabolic disorder occurs and leads to liver coagulative necrosis. In addition, increased inflammatory cytokine expression and higher astrocyte activation indicate an inflammatory process in the brain. These findings suggest that dysbiosis gut microbiome contributes to development of depression and further causes liver metabolic disorders in a way that may be relevant to the Lactobacillus to Clostridium ratio.

20.
Taiwan J Obstet Gynecol ; 58(6): 864-868, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31759544

RESUMO

OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 3. CASE REPORT: A 36-year-old woman underwent amniocentesis at 19 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+mar[6]/46,XX[18]. The mother's karyotype was 47,XX,+mar[4]/46,XX[46]. The father's karyotype was 46.XY. Array comparative genomic hybridization (aCGH) analysis of uncultured amniocytes revealed a result of arr 3q11.1q12.1 (93,575,285-98,956,687) × 2-3 [GRCh37 (hg19)]. Prenatal ultrasound findings were unremarkable. The parents elected to continue the pregnancy, and a 2470-g female baby was delivered at 37 weeks of gestation without phenotypic abnormalities. The cord blood had a karyotype of 47,XX,+mar[8]/46,XX[32]. aCGH analysis of cord blood revealed a result of arr 3q11.1q11.2 (93,649,973-97,137,764) × 2.4 [GRCh37 (hg19)] with a log2 ratio of 0.25 and a 30-40% mosaicism for 3.488-Mb dosage increase in 3q11.1-q11.2 encompassing four [Online Mendelian Inheritance in Man (OMIM)] genes of PROS1, ARL13B, NSUN3 and EPHA6. Metaphase fluorescence in situ hybridization (FISH) analysis confirmed 30% (6/20 cells) mosaicism for the sSMC(3) in the blood lymphocytes. CONCLUSION: aCGH and FISH analyses are useful for perinatal investigation of a prenatally detected sSMC.

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