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https://www.readbyqxmd.com/read/29774539/clinical-and-molecular-characterization-of-indian-patients-with-fructose-1-6-bisphosphatase-deficiency-identification-of-a-frequent-variant-e281k
#1
Pratibha Bhai, Sunita Bijarnia-Mahay, Ratna D Puri, Renu Saxena, Deepti Gupta, Udhaya Kotecha, Anil Sachdev, Dhiren Gupta, Vyomesh Vyas, Divya Agarwal, Vivek Jain, Rajeev K Bansal, Tapisha G Kumar, Ishwar Chander Verma
Fructose-1, 6-bisphosphatase deficiency is an autosomal recessive disorder of gluconeogenesis caused by genetic defect in the FBP1 gene. It is characterized by episodic, often life-threatening metabolic acidosis, liver dysfunction, and hyperlactatemia. Without a high index of suspicion, it may remain undiagnosed with devastating consequences. Accurate diagnosis can be achieved either by enzyme assay or gene studies. Enzyme assay requires a liver biopsy and is tedious, invasive, expensive, and not easily available...
May 18, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29774167/complete-hypokalemic-quadriparesis-as-a-first-presentation-of-sj%C3%A3-gren-syndrome
#2
Jason An, Branko Braam
Rationale: We hope to increase awareness that hypokalemic paralysis may be the first presentation of Sjögren syndrome, for which potassium-sparing diuretics can be an effective adjunct to potassium replenishment. Presenting concerns: A 73-year-old female presented to a peripheral hospital with quadriparesis and a critically low serum potassium of 1.6 mmol/L with U waves on the electrocardiogram (ECG). The initial arterial blood gas showed a pH of 7.19, bicarbonate of 13 mEq/L, and a CO2 of 35 mm Hg...
2018: Canadian Journal of Kidney Health and Disease
https://www.readbyqxmd.com/read/29772642/pilot-study-examining-the-influence-of-potassium-bicarbonate-supplementation-on-nitrogen-balance-and-whole-body-ammonia-and-urea-turnover-following-short-term-energy-restriction-in-older-men
#3
Lee M Margolis, Lisa Ceglia, Donato A Rivas, Bess Dawson-Hughes, Roger A Fielding
With aging there is a chronic low-grade metabolic-acidosis that may exacerbate negative protein balance during weight loss. The objective of this randomized pilot study was to assess the impact of 90 mmol∙day-1 potassium bicarbonate (KHCO₃) versus a placebo (PLA) on 24-h urinary net acid excretion (NAE), nitrogen balance (NBAL), and whole-body ammonia and urea turnover following short-term diet-induced weight loss. Sixteen (KHCO₃; n = 8, PLA; n = 8) older (64 ± 4 years) overweight (BMI: 28.5 ± 2.1 kg∙day-1 ) men completed a 35-day controlled feeding study, with a 7-day weight-maintenance phase followed by a 28-day 30% energy-restriction phase...
May 16, 2018: Nutrients
https://www.readbyqxmd.com/read/29769189/metabolic-acidosis-in-short-bowel-syndrome-think-d-lactic-acid-acidosis
#4
Sorin Stanciu, Aminda De Silva
Short bowel syndrome (SBS) is a condition when a person's gastrointestinal function is insufficient to supply the body with essential nutrients and hydration. Patients with SBS suffer from diarrhoea and symptoms of malabsorption such as weight loss, electrolyte disturbances and vitamin deficiencies. Long-term management of this condition can be complicated by the underlying disease, the abnormal bowel function and issues related to treatment like administration of parenteral nutrition and the use of a central venous catheter...
May 16, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29764832/large-bowel-obstruction-in-a-27-year-old-woman-caused-by-a-sigmoid-faecal-bolus
#5
Radford Arran James Smith, Muhammad Abdalkoddus, Robert Bethune
A 27-year-old woman presented to the emergency department with a 24-hour history of severe left iliac fossa pain associated with vomiting. She reported a history of ovarian cysts and was provisionally diagnosed with a ruptured ovarian cyst and admitted under the obstetrics and gynaecology team for further investigation. 24 hours later, she became haemodynamically unstable with increasing abdominal distention and developed a metabolic acidosis. A CT scan revealed large bowel obstruction (LBO) secondary to a faecal bolus in the sigmoid colon with appearances suggestive of adult-onset Hirschsprung's disease...
May 14, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29762478/insulin-sensitivity-and-glucose-homeostasis-can-be-influenced-by-metabolic-acid-load
#6
REVIEW
Lucio Della Guardia, Michael Alex Thomas, Hellas Cena
Recent epidemiological findings suggest that high levels of dietary acid load can affect insulin sensitivity and glucose metabolism. Consumption of high protein diets results in the over-production of metabolic acids which has been associated with the development of chronic metabolic disturbances. Mild metabolic acidosis has been shown to impair peripheral insulin action and several epidemiological findings suggest that metabolic acid load markers are associated with insulin resistance and impaired glycemic control through an interference intracellular insulin signaling pathways and translocation...
May 15, 2018: Nutrients
https://www.readbyqxmd.com/read/29761676/planned-re-laparotomy-in-a-non-trauma-setting-a-single-center-experience
#7
Yehuda Hershkovitz, Itamar Ashkenazi, Zahar Shapira, Oded Zmora, Igor Jeroukhimov
BACKGROUND: Damage control laparotomy (DCL) is the widely accepted procedure of choice in management of severely injured trauma patient. It has been implemented in non-trauma-related surgical pathology in the last decade. OBJECTIVES: To evaluate our experience with planned re-laparotomy (PRL) in non-trauma patients and compare it to other reports. METHODS: Charts of all patients admitted to Assaf Harofeh Medical Center who underwent PRL for non-trauma-related abdominal pathology during a 6 year period were reviewed...
May 2018: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/29758204/association-between-hippuric-acid-and-left-ventricular-hypertrophy-in-maintenance-hemodialysis-patients
#8
Teng-Hung Yu, Wei-Hua Tang, Yung-Chuan Lu, Chao-Ping Wang, Wei-Chin Hung, Cheng-Ching Wu, I-Ting Tsai, Fu-Mei Chung, Jer-Yiing Houng, Wen-Chun Lan, Yau-Jiunn Lee
BACKGROUND: Left ventricular hypertrophy (LVH) is one of the most common cardiac abnormalities in patients with end-stage renal disease. Hippuric acid (HA), a harmful uremic toxin, is known to be elevated in patients with uremia, and serum HA levels are associated with neurological symptoms, metabolic acidosis, and accelerated renal damage associated with chronic kidney disease. However, the pathophysiological role of HA in patients with uremia remains unclear. We investigated the association between serum HA levels and echocardiographic measurements in patients undergoing hemodialysis (HD) treatment...
May 11, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29756986/-dietetic-treatment-with-fructose-in-a-5-year-old-girl-with-recurrent-d-lactic-acidosis
#9
Lourdes Travieso Suárez, Pilar Quijada Fraile, Consuelo Pedrón Giner
D-lactic acidosis is an infrequent complication, mainly reported in patients with short bowel syndrome. It is characterized by recurrent episodes of encephalopathy with elevated serum D-lactic acid, usually associating metabolic acidosis. The presence of D-lactate-producing bacteria is necessary for the development of this complication. Other factors, such as the ingestion of large amounts of carbohydrates or reduced intestinal motility, contribute to D-lactic acidosis. We report a case of recurrent D-lactic acidosis in a 5-year-old girl with short bowel syndrome, due to a midgut volvulus...
March 1, 2018: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
https://www.readbyqxmd.com/read/29756707/impact-of-the-hyperchloremic-component-of-metabolic-acidosis-on-the-patient-s-hydration-status-and-the-treatment-of-diabetic-ketoacidosis
#10
Ismael Toledo, Raquel Wainsztein, Carla Mannucci, Mabel Ferraro, Juan Ferreira, Alejandro Balestracci
INTRODUCTION: Diabetic ketoacidosis (DKA) is characterized by metabolic acidosis (MA) with a high anion gap (AG), although, occasionally, it can present with hyperchloremia. It has been postulated that the early presence of hyperchloremia could reflect a better hydration status; however, its prevalence and impact on DKA treatment remain unknown. determine the prevalence of the hyperchloremic component in MA prior to treatment and to assess whether it is associated with a better hydration status and a shorter recovery time from DKA compared to patients with high AG only...
June 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29751620/kidney-response-to-the-spectrum-of-diet-induced-acid-stress
#11
Nimrit Goraya, Donald E Wesson
Chronic ingestion of the acid (H⁺)-producing diets that are typical of developed societies appears to pose a long-term threat to kidney health. Mechanisms employed by kidneys to excrete this high dietary H⁺ load appear to cause long-term kidney injury when deployed over many years. In addition, cumulative urine H⁺ excretion is less than the cumulative increment in dietary H⁺, consistent with H⁺ retention. This H⁺ retention associated with the described high dietary H⁺ worsens as the glomerular filtration rate (GFR) declines which further exacerbates kidney injury...
May 11, 2018: Nutrients
https://www.readbyqxmd.com/read/29747671/metabolic-acidosis-as-food-protein-induced-enterocolitis-syndrome-fpies-onset-in-a-newborn
#12
Antonella Peduto, Mario Rocca, Cinzia De Maio, Federica Gallarotti, Giulia Pomero, Paolo Gancia
BACKGROUND: FPIES (Food Protein Induced Eneterolitis Syndrome) is a rare non IgE- mediated food allergy, usually affecting infants and children after first months of life. Clinical presentation is heterogeneous, usually characterised by repetitive vomiting and diarrhoea, lethargy, failure to thrive until to dehydration with hypotension and shock. The diagnosis is based on clinical criteria, after excludind other hypothetical conditions. Early recognition of FPIES is essential to set a correct dietatay management that is resolving for the patient...
May 10, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29743761/predictors-of-mortality-in-acute-kidney-injury-patients-admitted-to-medicine-intensive-care-unit-in-a-rural-tertiary-care-hospital
#13
Amrish Saxena, Shrikant V Meshram
Background: Acute kidney injury (AKI) is a challenging problem faced by intensive care clinicians worldwide, and it is associated with high morbidity and mortality, especially in critically ill patients. Materials and Methods: A hospital-based prospective, observational study was conducted in patients of AKI admitted to the Intensive Care Unit (ICU) of the Department of Medicine in a rural tertiary care hospital located in central India. Data of all consecutive AKI inpatients related to demographic variables, clinical profile, and laboratory investigations were collected from patient's medical records...
April 2018: Indian Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/29742696/acute-starvation-ketoacidosis-in-pregnancy-with-severe-hypertriglyceridemia-a-case-report
#14
Li Hui, Li Shuying
RATIONALE: Pregnant women are more prone to ketosis due to the relative insulin resistance, accelerated lipolysis and increased free fatty acids. PATIENT CONCERNS: We report a pregnant woman with hyperlipidemia, who experienced severe metabolic acidosis after a short period of starvation. DIAGNOSES: Based on her clinical symptoms, exclusion diagnosis and therapeutic diagnosis, her condition was diagnosed as starvation ketoacidosis. INTERVENTIONS: An emergency caesarean section under general anesthesia was implemented 2 hours after her admission...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29741098/monophosphoryl-lipid-a-prevents-impairment-of-medullary-thick-ascending-limb-hco-3-absorption-and-improves-plasma-hco-3-concentration-in-septic-mice
#15
Bruns A Watts, Thampi George, Edward R Sherwood, David W Good
Metabolic acidosis is the most common acid-base disorder in septic patients and is associated with increased mortality. Previously we demonstrated that sepsis induced by cecal ligation and puncture (CLP) impairs HCO3 - absorption in the MTAL by: 1) decreasing the intrinsic HCO3 - absorptive capacity, and 2) enhancing inhibition of HCO3 - absorption by LPS through upregulation of TLR4 signaling. Both effects depend on ERK activation. Monophosphoryl lipid A (MPLA) is a detoxified TLR4 agonist that enhances innate antimicrobial immunity and improves survival following sepsis...
May 9, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29740777/severe-metabolic-acidosis-after-out-of-hospital-cardiac-arrest-risk-factors-and-association-with-outcome
#16
Matthieu Jamme, Omar Ben Hadj Salem, Lucie Guillemet, Pierre Dupland, Wulfran Bougouin, Julien Charpentier, Jean-Paul Mira, Frédéric Pène, Florence Dumas, Alain Cariou, Guillaume Geri
BACKGROUND: Metabolic acidosis is frequently observed as a consequence of global ischemia-reperfusion after out-of-hospital cardiac arrest (OHCA). We aimed to identify risk factors and assess the impact of metabolic acidosis on outcome after OHCA. METHODS: We included all consecutive OHCA patients admitted between 2007 and 2012. Using admission data, metabolic acidosis was defined by a positive base deficit and was categorized by quartiles. Main outcome was survival at ICU discharge...
May 8, 2018: Annals of Intensive Care
https://www.readbyqxmd.com/read/29735496/glucosuria-without-diabetes-key-to-the-diagnosis-of-fragility-fractures-due-to-fanconi-syndrome
#17
Lilluck F Alacapa, Mark Anthony Santiago Sandoval, Coralie Therese D Dimacali, Nathaniel Jr S Orillaza
A 64-year-old woman had fragility fractures which caused her to have gross deformities and confined her to bed. These were initially ascribed to vitamin D deficiency. However, despite correction of the deficiency, she did not improve. A review of previous records already showed glucosuria in the absence of diabetes, but this finding was overlooked. Eight years into the disease, it was realised that the glucosuria despite normal blood sugar could also mean that the patient was losing other substances needed for proper bone formation...
May 7, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29720096/celiac-crisis-a-rare-and-profound-presentation-of-celiac-disease-a-case-report
#18
Elizabeth Ann Forrest, Mark Wong, Srinivasa Nama, Siddharth Sharma
BACKGROUND: Celiac crisis is a life-threatening manifestation of celiac disease and is rare in adults, with only a handful of cases documented worldwide and mostly in children. CASE PRESENTATION: A profoundly emaciated 43-year-old female presented with profuse diarrhoea, shortness of breath, left leg swelling with ulceration and immobility (Body Mass Index (BMI) = 14.7 kg/m2 ). The patient had normal anion-gap metabolic acidosis (pH = 7.16) with persisting hypokalemia, hyponatremia, hypomagnesemia and hypophosphatemia...
May 2, 2018: BMC Gastroenterology
https://www.readbyqxmd.com/read/29716758/distal-renal-tubular-acidosis-in-two-children-with-acquired-hypothyroidism
#19
Norma E Guerra-Hernández, Karen V Ordaz-López, Rosa Vargas-Poussou, Laura Escobar-Pérez, Víctor M García-Nieto
Two cases of children diagnosed with renal tubular acidosis (RTA) associated with autoimmune hypothyroidism are presented. Case 1 developed an intestinal ileus at the age of five in the context of a respiratory problem. The tests performed confirmed metabolic acidosis, hyperchloraemia, hypokalaemia and nephrocalcinosis. Case 2 was diagnosed with hypothyroidism at the age of 11, and with RTA two years later. In both patients, the diagnosis of RTA was verified when decreased maximum urinary pCO2 was found. In case 2, a proximal bicarbonate leak (type 3 RTA) was also confirmed...
April 28, 2018: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/29715193/severe-lactic-acidosis-in-an-extremely-low-birth-weight-infant-due-to-thiamine-deficiency
#20
Hulya Ozdemir, Hulya Bilgen, Zeynep Alp Unkar, Ertugrul Kiykim, Asli Memisoglu, Eren Ozek
BACKGROUND: In this case report, we present a preterm newborn with persistent lactic acidosis who received total parenteral nutrition (TPN) that lacked thiamine. CASE PRESENTATION: A 28-week-old, 750 g female infant was born with an Apgar score of 8 at the 5th minute. Umbilical cord blood gas levels, including lactate level, were normal, and she was admitted to our neonatal intensive care unit (NICU). Achieving full enteral feeding was not possible due to gastric residues and abdominal distention, making the patient dependent on TPN during the first 2 weeks of life...
May 1, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
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