Acrodermatitis dysmetabolica in phenylketonuria

A 17-month-old girl with a history of phenylketonuria (PKU) and chronic kidney disease (CKD) secondary to unilateral renal agenesis presented with failure to thrive, diarrhea, and an extensive skin rash. Her parents reported increased irritability, decreased oral intake, and a gradually worsening rash over the last 14 days, with watery diarrhea present for 3 days. The patient was on a special amino-acid-restricted diet formula since birth for PKU and CKD. On examination, a diffuse erythematous confluent rash was present in the perioral region and the inguinal and perianal areas (as shown in Figs.
Source: Pediatrics and Neonatology - Category: Perinatology & Neonatology Authors: Tags: Images Source Type: research

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CONCLUSIONS: Epidemiological figures emerging from this study confirm that trends in Lebanon are in line with a global pattern of decreasing age at menarche. Urban-rural differences suggest that higher caloric content of diet and consequent early overweight, more evident in urban areas, are likely determinants of younger menarche. Evidence from this study calls for an urgent implementation of comprehensive multisectoral obesity prevention in children in Lebanon. PMID: 31519350 [PubMed - as supplied by publisher]
Source: Revue d Epidemiologie et de Sante Publique - Category: Epidemiology Tags: Rev Epidemiol Sante Publique Source Type: research
Publication date: Available online 14 September 2019Source: Molecular Genetics and MetabolismAuthor(s): Farrah Rajabi, Frances Rohr, Ann Wessel, Leslie Martell, Steven F. Dobrowolski, Per Guldberg, Flemming Güttler, Harvey L. LevyAbstractPhenylketonuria (PKU) is an autosomal recessive inborn error of metabolism caused by pathogenic variants in the phenylalanine hydroxylase gene (PAH). The correlation between genotype and phenotype can be complex and sometimes variable but often very useful for categorizing and predicting dietary tolerance and potential outcome. We reviewed medical records for 367 patients diagnosed wi...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Publication date: Available online 14 September 2019Source: Journal of Vascular and Interventional RadiologyAuthor(s): Edwin A. Takahashi, William S. Harmsen, Sanjay MisraAbstractPurposeTo determine the impact of renal function trajectory, defined as the change in renal function over time before and after renal artery stent placement, on long-term risk for renal replacement therapy (RRT) and mortality.Materials and MethodsEstimated glomerular filtration rates (eGFRs) 6–12 months before renal artery stent placement, at the time of intervention, and 6–12 months after intervention were determined in 398 patients. ...
Source: Journal of Vascular and Interventional Radiology - Category: Radiology Source Type: research
Chuang The presence of small amounts of human serum albumin (HSA) in urine or microalbuminuria (30–300 µg/mL) is a valuable clinical biomarker for the early detection of chronic kidney disease (CKD). Herein, we report on the development of an inexpensive and disposable immunosensor for the sensitive, specific, and label-free detection of HSA using electrochemical impedance spectroscopy (EIS). We have utilized a simple one-step screen-printing protocol to fabricate the carbon-based three-electrode system on flexible plastic substrates. To enable efficient antibody immobilization and improved sensiti...
Source: Sensors - Category: Biotechnology Authors: Tags: Article Source Type: research
This study sought to answer the question by investigating exogenous GM3 effects on multiple steps involved in atherogenesis. First, the physicochemical properties of native low-density lipoprotein (LDL) and LDL enriched with exogenous GM3 (GM3-LDL) were characterized by dynamic laser scattering, atomic force microscopy, and agarose gel electrophoresis. Then, electrophoretic mobility, conjugated diene and malondialdehyde production, and amino group blockage of GM3-LDL/LDL were measured to determine LDL oxidation degrees and cellular recognition/internalization of GM3-LDL/GM3-oxLDL were detected via confocal microscopy and f...
Source: Pharmacological Research - Category: Drugs & Pharmacology Source Type: research
ConclusionsYGY has obvious reversal effects on the abnormal symptoms of adenine-induced CKD and the abnormal symptoms of rats with hypothyroidism and male reproductive hypotension. Its mechanism is related to its ability to regulate the HIF1α-STAT5 pathway.Graphical abstract
Source: Journal of Ethnopharmacology - Category: Drugs & Pharmacology Source Type: research
BEST supplements for weight loss: Eating a healthy diet and regular exercise are two sure ways to help a person lose weight, but some experts say the addition of supplement can also help people shed the pounds. Here are three supplements proven to aid weight loss.
Source: Daily Express - Health - Category: Consumer Health News Source Type: news
CONCLUSION: The diabetic trained rats demonstrate a protective effect of resistance training on the serum lipid profile. PMID: 31517608 [PubMed - in process]
Source: Endocrine Regulations - Category: Endocrinology Tags: Endocr Regul Source Type: research
CONCLUSIONS: We hypothesize that RAS components expression is compensated differently in males and females. The observed loss of compensatory relationships in RAS between AT1 and Agt and AT1 and MasR in male rats under a salt diet can contribute to the differences observed in human with hypertension associated with an unhealthy diet. PMID: 31517631 [PubMed - in process]
Source: Endocrine Regulations - Category: Endocrinology Tags: Endocr Regul Source Type: research
Authors: Segarra AB, Prieto I, Martinez-Canamero M, Ruiz-Sanz JI, Ruiz-Larrea MB, De Gasparo M, Banegas I, Zorad S, Ramirez-Sanchez M Abstract OBJECTIVE: Enkephalins are neuropeptides involved in functions such as pain modulation and/ or cognitive processes. It has been reported that dietary fat modifies enkephalins in the brain. Since enkephalins are hydrolyzed by enkephalinases, the study of the influence of dietary fats, differing in their degree of saturation, on brain fatty acids content and enkephalinase activity is important to understand its regulatory role on neuropeptides under different type of diets. ...
Source: Endocrine Regulations - Category: Endocrinology Tags: Endocr Regul Source Type: research
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