Plasma exchange treatment of a diabetic ketoacidosis child with hyperlipidemia to avoid pancreatitis: a case report.

Type 1 diabetes mellitus (T1DM) is a metabolic disorder characterized by an absolute deficiency of insulin due to pancreatic failure. Diabetes ketoacidosis (DKA) has emerged as one of the most common complications of T1DM. Although exceedingly rare, the onset of T1DM with DKA may result in lipemia secondary to severe hypertriglyceridemia (HTG), accounting for several cases in the pediatric population. Along this line, plasma exchange treatment in children with DKA and severe hyperlipidemia has only been reported in some cases. In this case report, the diagnosis of an 11-year-old girl with diabetes ketoacidosis accompanied by severe HTG, along with subsequent plasma exchange treatment, is presented. Initially, the patient received initial management with crystalloid fluid bolus and intravenous insulin therapy. Despite rapid correction of acidosis, persistent HTG subsequently prompted the plasma exchange treatment. A total of three sessions were administered over 2 days, leading to a significant reduction in the triglyceride levels and corneal opacity resolution, indicating a successful therapeutic intervention.

Interaction between top-down decision-driven congruency effect and bottom-up input-driven congruency effect is correlated with conscious awareness.

In a conventional (Stroop) priming paradigm, it was well documented that objective prime-target incongruency delays response time (RT) to target compared to prime-target congruent condition. Recent evidence suggests that incongruency between the target and subjectively reported prime identity also delays RT over and above the classic congruency effect. When the prime is rendered invisible, the former effect is fundamentally a bottom-up (BU) stimulus-driven congruency effect and the latter a top-down (TD) guess-driven congruency effect. An influential theory of consciousness, global neuronal workspace theory, postulates that the long-lasting simultaneous and reciprocal interaction between TD decision network and BU input network is preserved during conscious processing and disabled during unconscious processing. Current study is focused on testing this theoretical postulation using two behavioral experiments. Our results showed that indeed TD-congruency and BU-congruency produced additive RT effects on prime-invisible trials, which implies that TD and BU prime representations are activated in independent neuronal populations. Meanwhile, an underadditive interaction effect was observed as prime visibility rose, which is a signature that TD and BU prime representations recruited overlapping neuronal populations during conscious perception. In addition, we suggest that current behavioral paradigm might be a financially friendly alternative to detect the presence of representational overlap in the brain between a wide range of mental representations, such as expectation, prediction, conscious/unconscious perception, and conscious/unconscious working memory. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Clinical study of left ventricular structure and function in patients with Anderson-Fabry disease before and after enzyme replacement therapy.

AIMS: Cardiac left ventricular hypertrophy (LVH) is the most common manifestation of heart involvement in Anderson-Fabry disease (AFD). Conventional cardiac imaging is not sensitive enough to detect early signs of LVH in AFD. It remains uncertain whether enzyme replacement therapy (ERT) can prevent LVH progression and improve myocardial function. This study aimed to assess the effectiveness of two-dimensional speckle tracking echocardiography (2D-STE) in early detection of cardiac involvement in AFD and monitoring the efficacy of agalsidase alfa and agalsidase beta therapy. METHODS AND RESULTS: Thirteen consecutive AFD patients and 12 healthy controls underwent standard transthoracic 2D, color Doppler, tissue Doppler echocardiography, and 2D strain analysis. Global longitudinal strain (GLS) and global circumferential strain (GCS) were measured. Diastolic strain rate (SR) was extracted. Compared to healthy subjects, AFD patients without LVH showed lower levels of GLS (p < 0.001) and SR (p = 0.01), while there was no difference in GCS (p = 0.82). Following treatment, apical circumferential strain (ACS) showed improvement (p = 0.01). CONCLUSION: In AFD patients without LVH, there was a decrease in global and segmental LS. Higher plasma Lyso-GL-3 concentrations were associated with elevated ACS values after ERT, indicating that ACS in AFD patients without LVH, albeit normal, is involved in early LV dysfunction.

[Clinical characteristics and genetic analysis of three children with Congenital chlorine diarrhea].

OBJECTIVE: To explore the clinical characteristics and genetic basis for three children with Congenital chlorine diarrhea (CCD). METHODS: Three children with CCD who attended the Affiliated Children's Hospital of Capital Pediatric Institute from June 2014 to August 2020 were selected as the research subjects. Peripheral blood samples of the three children and their parents were collected for genetic testing. And the results were verified by Sanger sequencing. RESULTS: The clinical manifestations of the three children have included recurrent diarrhea, with various degrees of hypochloremia, hypokalemia and refractory metabolic alkalosis. Genetic testing revealed that the three children have all carried variants of the SLC26A3 gene, including homozygous c.1631T>A (p.I544N) variants, c.2063_1G>T and c.1039G>A (p.A347T) compound heterozygous variants, and c.270_271insAA(p.G91kfs*3) and c.2063_1G>T compound heterozygous variants. Sanger sequencing confirmed that all of the variants were inherited from their parents. CONCLUSION: The variants of the SLC26A3 gene probably underlay the CCD in these children. Above finding has enriched the spectrum of SLC26A3 gene variants.

Effect of small molecules on the phase behavior and coacervation of aqueous solutions of poly(diallyldimethylammonium chloride) and poly(sodium 4-styrene sulfonate).

HYPOTHESIS: Complex coacervates are capable of easily partitioning solutes within them based on relative affinities of solute-water and solute-polyelectrolyte pairs, as the coacervate phase has low surface tension with water, facilitating the transport of small molecules into the coacervate phase. The uptake of small molecules is expected to influence the physicochemical properties of the complex coacervate, including the hydrophobicity within coacervate droplets, phase boundaries of coacervation and precipitation, solute uptake capacity, as well as the coacervate rheological properties. EXPERIMENTS: Phase behavior of aqueous solutions of poly(diallyldimethylammonium chloride) (PDAC) and poly(sodium 4-styrene sulfonate) (SPS) was investigated in the presence of various concentrations of two different dyes, positively charged methylene blue (MB) or non-charged bromothymol blue (BtB), using turbidity measurements. These materials were characterized with UV-vis spectroscopy, zeta potential measurements, isothermal titration calorimetry (ITC), fluorescence spectroscopy, and dynamic rheological measurements. FINDINGS: The presence of MB or BtB accelerates the coacervation process due to the increased hydrophobicity within coacervates by the addition of MB or BtB. The encapsulated MB or BtB tends to reduce the ionic crosslink density in the PDAC-SPS coacervates, resulting in a much weaker interconnecting network of the PDAC-SPS coacervates.

Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases.

AIM: The aim of this study is to investigate the clinical features, therapeutic outcomes, and genetic mutations of congenital hyperinsulinism (CHI) in Chinese patients. METHODS: The clinical features and therapeutic outcomes of 95 CHI cases were recorded, and genetic analyses were conducted to identify mutations in ABCC8 and KCNJ11 in 55 cases. Direct sequencing was carried out in 25 of the cases with ABCC8 and KCNJ11 mutations. Additionally, 16 samples with no mutations and the remaining 30 samples were sequenced using Ion Torrent platform. RESULTS: Clinical misdiagnosis occurred in 36/95 (38%) of the cases. Most (82/95; 84%) of the patients were given diazoxide therapy combined with age-dependent frequent feeding, which was effective in 54/95 (66%) cases. The side effects of diazoxide included sodium and water retention, gastrointestinal reactions, polytrichia, and thrombocytopenia. Five patients were treated with octreotide for 1-4 months, of which 80% (4/5) showed a positive response. Non-surgical therapy was effective in 71/95 (75%) cases. Of the four children who received subtotal pancreatectomy, only one had a good outcome. The remission rate of hypoglycemia was 59% for children over 2-yr-old. The CHI-related gene mutation rate was 38% for potassium channel-related genes. Early onset of CHI and a lower diazoxide response rate were associated with potassium-ATP channel gene mutations. CONCLUSION: Age-dependent frequent feeding is an acceptable therapy for CHI. Non-surgical therapy may be highly effective, in part, due to the low rate of potassium channel gene mutations. Surgical outcomes are unreliable without 18F-fluoro-L-DOPA positron emission tomography. Therefore, we do not recommend operation without definitive identification of the pathologic type.

[Analysis of clinical and genetic characteristics of 20 cases of children with Silver Russell syndrome].

OBJECTIVE: To improve the accuracy of the diagnosis of the disease on the basis of the clinical features and genetic characteristics of patients with Silver Russell syndrome (SRS). METHOD: Patients diagnosed with SRS by Price criteria in 2006 to 2011 were reviewed for their clinical manifestations, physical signs, laboratory examinations and treatments. RESULT: Twenty cases with SRS were 0.08-12.17 yr old. Fifteen were male and 5 were female. The clinical characteristics included more than 80% of cases had postnatal growth retardation 100% (20/20), craniofacial dysmorphism 100% (20/20), small for gestation age 95% (19/20), asymmetry and thinning of the face and/or limbs 90% (18/20), fifth finger clinodactyly 80% (16/20), BMI < -2 SDS 80% (16/20). Their height was obviously lagging behind in the bone age. HD SDS/average of bone retardation was 3.08. The two patients with the chief complaint of external genital abnormalities would have aggressive surgical treatment and they did not use the growth hormone (GH) treatment. Only six patients had used the GH treatment. GH treatment at a dose of 0.1 IU/(kg·d) used in 2 cases achieved a growth velocity (GV) 8 - 11 cm/yr but in another 2 cases < 5 cm/yr. In genetic study, 6 patients were found to have 11p15 low methylation, 1 had low and high methylation, 1 had duplication, no relation between clinical and methylation of 11p15 was found. CONCLUSION: There were great variations of clinical features in SRS characterized by small for gestation age and/or postnatal growth retardation, craniofacial dysmorphism, asymmetry of the face and/or limbs or ultrafine limbs, fifth finger clinodactyly. Severely low BMI was seen and height was obviously lagging behind in the bone age. The findings of laboratory tests and imaging of SRS were not specific. Some of SRS had 11p15 imprinting defects. The treatment of SRS is mainly symptomatic.

Detection of organophosphorus compounds using a molecularly imprinted photonic crystal.

A label free molecularly imprinted photonic crystal (MIPC) was developed to detect the degradation product of nerve agents. Mono-dispersed poly-methyl methacrylate colloidal particles with the diameter of 280 nm were used to fabricate a closely packed colloidal crystal array (CCA), and a methyl phosphonic acid (MPA) imprinted hydrogel was prepared within the CCA using 2-hydroxyethyl-methacrylate and N-isopropylacrylamide as monomers, ethyleneglycol dimethacrylate and N, N'-methylenebisacrylamide as cross-linkers, a mixture of n-octanol and acetonitrile as porogen. The diffraction intensity of the MIPC decreased significantly upon the MPA adsorption with a limit of detection (LOD) of 10(-6) molL(-1). Furthermore, the diffraction intensity decreased and blue shifted with the increase of temperature, decreased and red shifted with the increase of ionic strength. At higher pH, the diffraction intensity increased without obvious diffraction shift. The MIPC provides an indirect path to detect nerve agents (Sarin, Soman, VX and R-VX) by monitoring the MPA released from the hydrolysis of nerve agents, with LODs of 3.5 × 10(-6) molL(-1), 2.5 × 10(-5) molL(-1), 7.5 × 10(-5) molL(-1) and 7.5 × 10(-5) molL(-1) for Sarin, Soman, VX and R-VX, respectively.