Alzheimer's disease (AD) is an irreversible progressive neurodegenerative disease. Intervention in the early stage of AD is a new path for AD treatment that is being explored. The behavioral and pathological effects of anodal transcranial direct current stimulation (AtDCS) at the early stage of AD in the mouse model, amyloid precursor protein (APP)/presenilin-1 (PS1) transgenic mice, were investigated based on our previous studies. Thirty-three 6-month-old male APP/PS1 mice were randomly divided into the model group (AD group), model + sham stimulation group (ADST group) and stimulation group (ADT group). Eleven 6-month-old male C57 wild-type mice were randomly selected as a control group (CTL group). The ADT group received 10 AtDCS sessions. The Morris water maze (MWM) task and novel object recognition (NOR) task were used to test mouse memory. Nissl staining, Western blot (WB), immunohistochemistry and immunofluorescence staining of β-amyloid (Aβ 42), glial fibrillary acidic protein (GFAP) and NF200 were conducted for pathological analysis. The ADT group and the CTL group had a shorter escape latency and more platform-region crossings than the AD group and ADST group in the MWM. There was no significant difference in the discrimination index among the groups in the NOR task. Pathological analysis showed visible differences between the AD group and ADT group. This study revealed that earlystage APP/PS1 transgenic mice did not show recognition memory impairment. AtDCS effectively improved spatial learning and memory in the early-stage APP/PS1 transgenic mouse model of AD, alleviating Aβ burden and having a protective effect on neurons. AtDCS could improve AD-related symptoms by activating many glial cells to promote the degradation and clearance of Aβ or directly affecting production and degradation of Aβ to reduce glial activation. AtDCS is an effective means of early intervention in the early stage of AD.

Primary carnitine deficiency (PCD) is a disorder of the carnitine cycle that results in defective fatty acid oxidation. When carnitine cannot be transported into the cells, fatty acid oxidation is impaired, resulting a variety of symptoms, such as chronic muscle weakness, cardiomyopathy, hypoglycemia and liver dysfunction. The clinical manifestations and outcomes of different cases with PCD vary among patients. The present case report focused on two sisters with PCD. The younger sister presented with intractable epilepsy, and the older sister presented with reversible metabolic cardiomyopathy. Potential mutations in the SLC22A5 gene were investigated within the family, and a nonsense mutation [c.760C>T (p.R254X)] was identified in four family members. The two sisters harbored homozygous mutations, whereas their parents presented heterozygous mutations. Metabolic disease screening revealed low plasma free carnitine levels (<5 µmol/l) in the two sisters. The plasma free carnitine levels of their parents were normal, and they were asymptomatic. PCD in the two patients was managed using oral levocarnitine. The metabolic cardiomyopathy of the older sister improved following 3 months of treatment. However, the epilepsy of the younger sister was recurrent with oral antiepileptic therapy lasting one year and eight months, and epilepsy was finally controlled following right cerebral resection. The present case report demonstrated that the clinical manifestations presented by patients with PCD within the same family were different. The results indicated that treatment with levocarnitine supplementation should be initiated as soon as possible before irreversible organ damage occurs. In addition, metabolic decompensation and cardiac muscle functions were improved following carnitine supplementation. The resection of the severely diseased unilateral brain combined with carnitine supplementation and antiepileptic therapy may be an effective treatment for PCD with intractable epilepsy complications.

Abstract. The aim of this study was to investigate mutations of multidrug resistance 3 (MDR3) exons 9 and 23 in infants with parenteral nutrition-associated cholestasis (PNAC). A total of 41 infants with PNAC were enrolled in the study. Genomic DNA was extracted from the peripheral venous blood leukocytes of each patient and MDR3 exons 9 and 23 were amplified by polymerase chain reaction. One patient was identified who carried a frameshift mutation in MDR3 exon 23 (C.2793) that was caused by the insertion of a single adenine residue, while mutations were not found in MDR3 exon 23 in the other 40 patients. The clinical features of the patient with the MDR3 exon 23 frameshift mutation included high serum γ-glutamyl transferase levels, the absence of biliary dilatation and deformity in magnetic resonance cholangiopancreatography, and abnormal electrical capacitance tomography imaging of the liver. No mutations in MDR3 exon 9 were identified in any of the patients. All 41 PNAC patients recovered following oral ursodeoxycholic acid treatment. The C.2793 frameshift mutation in MDR3 exon 23 is potentially associated with the development of PNAC in infants. IntroductionSince Dudrick et al first reported the application of parenteral nutrition (PN) in newborns in 1968 (1), the prognosis of preterm infants has markedly improved. However, in 1971, Peden et al reported the case of a premature infant who developed severe liver function damage owing to the application of total parenteral nutrition (TPN) (2). The autopsy of this patient revealed the presence of intrahepatic cholestasis, bile duct dilatation and cirrhosis. Since then, parenteral nutrition-associated cholestasis (PNAC) in preterm infants has garnered increasing attention.The pathogenesis of PNAC has not been elucidated until recently. PNAC is considered to be caused by a variety of factors, including premature birth, low birth weight, long PN duration, a lack of fasting, gastrointestinal irritation, infection, intestinal bacterial overgrowth, bacterial translocation, TPN solution nutrient imbalances, lack of trace elements and toxic ingredients in PN (3,4). These factors cause liver damage, degeneration, and fat deposition in the liver (5,6). In recent years, a number of studies have shown that MDR3 mutations or the decreased expression or dysfunction of MDR3 causes bile phospholipid deficiency, bile stone formation and the obstruction of small bile ducts, and may affect bile metabolism, thereby causing cholestasis (7,8). The purpose of the present study was to investigate whether mutations of MDR3 exons 9 and 23 were present in infants with PNAC. Materials and methods Subjects.A total of 41 infants with PNAC were enrolled in the study between June 2011 and December 2013. PNAC diagnostic criteria included: PN for >14 days, jaundice, a direct bilirubin level of >1.5 mg/dl, discolored stools, elevated liver enzymes, and the exclusion of biliary atresia, choledochal cysts, bile duct dilatation, surgery-induced disease, viral infection (hepatitis A, B or C and cytom...

Introduction: Type 2 diabetes mellitus (T2DM) and stroke are two different diseases, but have many aspects in common. Aspirin is recommended as an initial treatment for the secondary prevention of recurrent ischemic stroke in patients with T2DM. However, clopidogrel is an oral antiplatelet drug that might be another choice in case of aspirin intolerance. In this analysis, we aimed to systematically compare aspirin versus clopidogrel monotherapy for the secondary prevention of recurrent cerebrovascular attack following previous ischemic stroke in patients with T2DM. Methods: Online medical databases including Web of Science, MEDLINE, Cochrane central, EMBASE and http://www.ClinicalTrials.com were searched for published articles that satisfied the inclusion and exclusion criteria of this Digital features To view digital features for this article go to

BackgroundAplasia cutis congenita is a congenital disorder with the absence of skin, muscle and(or) bone. It usually affects the scalp. The presence of a large scalp defect can be potentially serious when complicated with hemorrhage and infection. Early healing of this condition is beneficial to improve the prognosis of infants.Study caseA full-term newborn male was born with a round-shaped defect at the vertex of the scalp and skull (dimensions, 8 cm × 9 cm). The infant had a large deletion encompassing the 15.1 region of chromosome 15, including the DLL4 gene. Genetic testing was positive for Adams–Oliver syndrome (AOS). After two months of recombinant human epidermal growth factor gel combined with kangfuxin solution therapy, the skin defects of the scalp healed remarkably. The infant had regular follow-up appointments. At the age of 5 months, the defect became smaller, hairless, and showed good granulation tissue. At 2 years of age, the child's Gesell Developmental Schedules was 70.ConclusionRecombinant human epidermal growth factor gel combined with kangfuxin solution was a successful conservative treatment for an infant with a large scalp defect accompanied by AOS.

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It is believed that malnutrition is common among hospitalized patients and associated with increased risk of morbidity and mortality. It is unclear if it is more likely to cause coagulation disorders in patients with malnutrition. We, therefore, investigate the feasibility of using thromboelastography (TEG) in early detection of coagulation abnormalities in patients at nutritional risk. Fifty successive adult patients with gastrointestinal disease were prospectively divided into one of two groups according to nutritional risk score (less than 3 and 3 or greater). Blood samples were collected at admission for analysis of standard biochemical parameters, routine coagulation tests, and TEG parameters. A total of 62 per cent of patients (n = 31) were at nutritional risk. Serum concentrations of prealbumin, transferrin, total protein, low-density lipoprotein, high-density lipoprotein, and cholesterol were much lower in the nutritional risk group than in the no-risk group ( P ≤ 0.05). There was no significant difference in routine coagulation tests, whereas most of the TEG parameters showed significant differences between the two groups. The overall coagulation function was worse in patients at nutritional risk than in patients with good nutritional status ( P ≤ 0.01). TEG appears to be more sensitive for the detection of coagulation abnormalities compared with routine coagulation tests in patients at nutritional risk. The phenomenon described in this article should be useful in further studies of patients with malnutrition.

BackgroundAplasia cutis congenita (ACC), also called congenital cutaneous hypoplasia, is a serious disease in newborns. Children with ACC often die due to wound infections and bleeding. How the incidence of ACC can be reduced is a question that needs to be solved urgently.Case reportWe reported a mother who had delivered two children with ACC, both of whom were diagnosed with ACC type VI, skin defects, limb deformities, and congenital heart malformations. One infant died a few days after birth, and another died in utero in the second trimester. Genetic testing in both children showed a heterozygous mutation in the ITGB4 gene [17q25 exon 8, c. 794 dupC, (p. Ala266fs) and exon 15, c. 1860G &gt; A]. The mother later successfully gave birth to a healthy baby using Preimplantation Genetic Testing for Monogenic disorders(PGD-M).ConclusionThe PGD-M technique is highly valuable in reducing the incidence of ACC and improving the prognoses of newborns.