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https://www.readbyqxmd.com/read/29353266/twenty-seven-mutations-with-three-novel-pathologenic-variants-causing-biotinidase-deficiency-a-report-of-203-patients-from-the-southeastern-part-of-turkey
#1
Berna Seker Yilmaz, Neslihan Onenli Mungan, Deniz Kor, Derya Bulut, Gülşah Seydaoglu, Murat Öktem, Serdar Ceylaner
BACKGROUND: Biotinidase deficiency (BD) is an autosomal recessive inborn error of metabolism characterized by neurologic and cutaneous symptoms and can be detected by newborn screening. Newborn screening for BD was implemented in Turkey at the end of 2008. METHODS: In total, 203 patients who were identified among the infants detected by the newborn screening were later confirmed to have BD through measurement of serum biotinidase activity. We also performed BTD mutation analysis to characterize the genetic profile...
January 20, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29352439/single-incision-laparoscopic-transgastric-underrunning-and-closure-of-cameron-ulcers-in-acute-gastrointestinal-bleeding
#2
Chun Han Nigel Tan, Guowei Kim, Jimmy So, Asim Shabbir
INTRODUCTION: Endoscopic therapy remains the cornerstone of hemostasis for gastrointestinal bleeding. In situations where hemostasis cannot be achieved via endoscopic or radiological methods, surgery is necessary. Traditional open surgery for bleeding gastric ulcers can be very morbid and unsuitable especially in hemodynamically unstable patients in extremis. We describe a minimally invasive, transgastric approach for underrunning and closure of Cameron ulcers. METHODS: Our patient is a 75-year-old Chinese lady, who presented to the emergency department with fresh melena...
January 19, 2018: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
https://www.readbyqxmd.com/read/29351779/the-effect-of-twin-to-twin-delivery-time-intervals-on-neonatal-outcome-for-second-twins
#3
L Lindroos, A Elfvin, L Ladfors, U-B Wennerholm
BACKGROUND: The objective was to examine the effect of twin-to-twin delivery intervals on neonatal outcome for second twins. METHODS: This was a retrospective, hospital-based study, performed at a university teaching hospital in Western Sweden. Twin deliveries between 2008 and 2014 at ≥32 + 0 weeks of gestation, where the first twin was delivered vaginally, were included. Primary outcome was a composite outcome of metabolic acidosis, Apgar < 4 at 5 min or peri/neonatal mortality in the second twin...
January 19, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29350673/glyphosate-ingestion-causing-multiple-organ-failure-a-near-fatal-case-report
#4
Edoardo Picetti, Michela Generali, Francesca Mensi, Giampaolo Neri, Roberta Damia, Giuseppe Lippi, Gianfranco Cervellin
A 55 years old man self-presented to our Emergency Department (ED) reporting an attempted suicide by cutting the left forearm veins and ingesting approximately 200 mL of an herbicide (Myrtos®, containing 36% of glyphosate as isopropylamine salt). Laboratory tests showed metabolic acidosis. Hydration with normal saline and alkalinization with sodium bicarbonate was started according to suggestion of the poison control center, since an antidote was unavailable. Cardiorespiratory condition gradually worsened, so that non-invasive positive pressure ventilation (NIPPV) was applied and infusion of fluids was established...
January 16, 2018: Acta Bio-medica: Atenei Parmensis
https://www.readbyqxmd.com/read/29348282/acquired-pyloric-stenosis-resulting-in-hypokalaemic-hyperchloraemic-normal-anion-gap-metabolic-acidosis-persistent-vomiting-in-an-adult-cause-and-effect
#5
Philip Kaye
A 24-year-old woman presented with a history of persistent vomiting for at least 3 months. This resulted in severe dehydration with risk of acute kidney injury. In addition to volume depletion, loss of gastric fluid resulted in a specific metabolic derangement-hypokalaemic, hypochloraemic normal anion gap metabolic alkalosis with a reduced ionised calcium concentration and paradoxical aciduria. These metabolic changes were reflected in her ECG. Investigation demonstrated acquired gastric outflow tract obstruction secondary to a pyloric peptic ulcer...
January 17, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29344814/nutritional-therapy-in-autosomal-dominant-polycystic-kidney-disease
#6
REVIEW
Biagio R Di Iorio, Adamasco Cupisti, Claudia D'Alessandro, Antonio Bellasi, Vincenzo Barbera, Luca Di Lullo
CKD-related nutritional therapy (NT) is a crucial cornerstone of CKD patients' treatment, but the role of NT has not been clearly investigated in autosomal dominant polycystic kidney disease (ADPKD). Several clinical studies have focused on new pharmacological approaches to delay cystic disease progression, but there are no data on dietary interventions in ADPKD patients. The aim of this paper is to analyze the evidence from the literature on the impact of five nutritional aspects (water, sodium, phosphorus, protein intake, and net acid load) in CKD-related ADPKD extrapolating-where information is unavailable-from what occurs in CKD non-ADPKD patients Sodium intake restriction could be useful in decreasing the growth rate of cysts...
January 17, 2018: Journal of Nephrology
https://www.readbyqxmd.com/read/29344509/review-of-the-diagnostic-evaluation-of-normal-anion-gap-metabolic-acidosis
#7
REVIEW
Kenrick Berend
Background: Normal anion gap metabolic acidosis is a common but often misdiagnosed clinical condition associated with diarrhea and renal tubular acidosis (RTA). Early identification of RTA remains challenging for inexperienced physicians, and diagnosis and treatment are often delayed. Summary: The presence of RTA should be considered in any patient with a high chloride level when the CL-/Na+ ratio is above 0.79, if the patient does not have diarrhea. In patients with significant hyperkalemia one should evaluate for RTA type 4, especially in diabetic patients, with a relatively conserved renal function...
December 2017: Kidney Diseases
https://www.readbyqxmd.com/read/29344508/acid-base-and-electrolyte-disorders-in-patients-with-and-without-chronic-kidney-disease-an-update
#8
REVIEW
Tsering Dhondup, Qi Qian
Kidneys play a pivotal role in the maintenance and regulation of acid-base and electrolyte homeostasis, which is the prerequisite for numerous metabolic processes and organ functions in the human body. Chronic kidney diseases compromise the regulatory functions, resulting in alterations in electrolyte and acid-base balance that can be life-threatening. In this review, we discuss the renal regulations of electrolyte and acid-base balance and several common disorders including metabolic acidosis, alkalosis, dysnatremia, dyskalemia, and dysmagnesemia...
December 2017: Kidney Diseases
https://www.readbyqxmd.com/read/29344504/new-findings-on-the-pathogenesis-of-distal-renal-tubular-acidosis
#9
REVIEW
Francesco Trepiccione, Federica Prosperi, Luigi Regenburgh de la Motte, Christian A Hübner, Regine Chambrey, Dominique Eladari, Giovambattista Capasso
Background: Distal renal tubular acidosis (dRTA) is characterized by an impairment of the urinary acidification process in the distal nephron. Complete or incomplete metabolic acidosis coupled with inappropriately alkaline urine are the hallmarks of this condition. Genetic forms of dRTA are caused by loss of function mutations of either SLC4A1, encoding the AE1 anion exchanger, or ATP6V1B1 and ATP6V0A4, encoding for the B1 and a4 subunits of the vH+ATPase, respectively. These genes are crucial for the function of A-type intercalated cells (A-IC) of the distal nephron...
December 2017: Kidney Diseases
https://www.readbyqxmd.com/read/29340523/a-case-of-severe-glutathione-synthetase-deficiency-with-novel-gss-mutations
#10
H Xia, J Ye, L Wang, J Zhu, Z He
Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with autosomal recessive inheritance. The severe form of the disease is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. A case of a male newborn infant who had severe metabolic acidosis with high anion gap, hemolytic anemia, and hyperbilirubinemia is reported. A high level of 5-oxoproline was detected in his urine and a diagnosis of generalized GSSD was made...
January 11, 2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/29340149/acute-kidney-injury-due-to-multiple-hymenoptera-stings-a-clinicopathological-study
#11
Sanjay Vikrant, Anupam Parashar
Background: Acute kidney injury (AKI) after multiple Hymenoptera stings is well known but still a rare phenomenon. Methods: We conducted a retrospective study of the clinicopathological spectrum of AKI due to multiple Hymenoptera stings over 13 years (July 2003-June 2016). Results: A total of 35 patients were diagnosed with AKI due to multiple Hymenoptera stings. The mean age of the patients was 44.7 ± 17.4 years and the majority (60%) were men...
August 2017: Clinical Kidney Journal
https://www.readbyqxmd.com/read/29336990/failure-of-intracardiac-pacing-after-fatal-propafenone-overdose-a-case-report
#12
Ivan Zeljković, Nikola Bulj, Matea Kolačević, Vedran Čabrilo, Diana Delić Brkljačić, Šime Manola
BACKGROUND: Propafenone is a sodium-channel blocker, class IC antiarrhythmic drug, frequently used to manage supraventricular dysrhythmias, especially atrial fibrillation. We report a self mono-intoxication with propafenone. CASE REPORT: A 68-year-old woman presented with a decreased level of consciousness, hypotension, and electrocardiogram showing QRS widening with atrial asystole and extreme bradycardia < 20 beats/min. After initial stabilization with transcutaneous pacing, laboratory findings detected normal electrolyte ranges and metabolic acidosis, and her medical history revealed availability of propafenone due to paroxysmal atrial fibrillation and depressive syndrome, which led to the suspicion of intoxication...
January 11, 2018: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29333622/metabolic-acidosis-and-anaemia-associated-with-dorzolamide-in-a-patient-with-impaired-renal-function
#13
Iva Hoffmanová, Daniel Sánchez
Topical carbonic anhydrase inhibitors (CAI), used for treatment of glaucoma, are generally regarded as safe and unconnected with systemic side effects. We report an unusual case of fatigue, metabolic acidosis, and normocytic anaemia associated with ocular administration of the CAI, dorzolamide, in a patient with impaired renal function. In chronic kidney disease, where CAI elimination may be decreased, and patients prone to develop metabolic acidosis, systemic absorption of ocular administered CAI could lead to rare, but potentially serious adverse reaction, that are a consequence of inhibition of extraocular carbonic anhydrase isoenzymes...
January 14, 2018: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29319780/diabetes-mellitus-and-hyperkalemic-renal-tubular-acidosis-case-reports-and-literature-review
#14
Carlos Henrique Pires Ratto Tavares Bello, João Sequeira Duarte, Carlos Vasconcelos
Hyporeninemic hypoaldosteronism, despite being common, remains an underdiagnosed entity that is more prevalent in patients with diabetes mellitus. It presents with asymptomatic hyperkalemia along with hyperchloraemic metabolic acidosis without significant renal function impairment. The underlying pathophysiological mechanism is not fully understood, but it is postulated that either aldosterone deficiency (hyporeninemic hypoaldosteronism) and/or target organ aldosterone resistance (pseudohypoaldosteronism) may be responsible...
October 2017: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29319266/gitelman-syndrome-presenting-during-pregnancy-with-adverse-foetal-outcome
#15
N Nand, A R Deshmukh, R Mathur, V Chauhan, Brijlal
Gitelman syndrome (GS) is a rare autosomal recessive salt-losing tubulopathy. The incidence of Gitelman syndrome is 25 cases in 1 million among western population. This patient presented with loose stool, vomiting and sudden onset quadriparesis. Investigations revealed hypokalaemia, metabolic acidosis, hypomagnesaemia, hypocalciuria, hypermagnesuria. Symptoms and hypokalemia improved after starting oral magnesium and potassium supplements. But the patient again presented with symptomatic hypokalemia and delivered a still born foetus with hydrocephalus...
October 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29318219/extending-metformin-use-in-diabetic-kidney-disease-a-pharmacokinetic-study%C3%A2-in%C3%A2-stage-4-diabetic-nephropathy
#16
Ajith Munasinghe Dissanayake, Mark Christopher Wheldon, Jafar Ahmed, Christopher John Hood
Introduction: Metformin use in advanced chronic kidney disease is controversial. This study sought to examine the pharmacokinetics, safety, and efficacy of low-dose metformin in patients with type 2 diabetes and stage 4 chronic kidney disease. Methods: In this open-label, phase I trial, 3 consecutive cohorts (1, 2, and 3) of 6 patients each were recruited to receive 250-, 500-, or 1000-mg once-daily doses of metformin, respectively. All patients underwent a first-dose pharmacokinetic profile and weekly trough metformin concentrations for the duration of 4 weeks of daily therapy...
July 2017: KI Reports
https://www.readbyqxmd.com/read/29301418/hypoglycemia-and-lactic-acidosis-outperform-king-s-college-criteria-for-predicting-death-or-transplant-in-acetaminophen-toxic-patients
#17
Michael Levine, Samuel J Stellpflug, Anthony F Pizon, David A Peak, Janna Villano, Timothy Wiegand, Christian Dib, Stephen H Thomas
IMPORTANCE: Acetaminophen toxicity is common and is characterized by hepatic failure. In cases that are not improving with standard medical therapy with N-acetylcysteine, some patients may require hepatic transplant. While there are various criteria to predict patients who might benefit from transplant, the King's College criteria remain one of the most widely used. However, the King's College criteria have several limitations and do not incorporate glucose, an important marker of hepatic function...
January 5, 2018: Clinical Toxicology
https://www.readbyqxmd.com/read/29298242/contemporary-management-of-high-grade-renal-trauma-results-from-the-american-association-for-the-surgery-of-trauma-aast-genitourinary-trauma-study
#18
Sorena Keihani, Yizhe Xu, Angela P Presson, James M Hotaling, Raminder Nirula, Joshua Piotrowski, Christopher M Dodgion, Cullen M Black, Kaushik Mukherjee, Bradley J Morris, Sarah Majercik, Brian P Smith, Ian Schwartz, Sean P Elliott, Erik S DeSoucy, Scott Zakaluzny, Peter B Thomsen, Bradley A Erickson, Nima Baradaran, Benjamin N Breyer, Brandi Miller, Richard A Santucci, Matthew M Carrick, Timothy Hewitt, Frank N Burks, Jurek F Kocik, Reza Askari, Jeremy B Myers
BACKGROUND: The rarity of renal trauma limits its study and the strength of evidence-based guidelines. Although management of renal injuries has shifted towards a non-operative approach, nephrectomy remains the most common intervention for high-grade renal trauma (HGRT). We aimed to describe the contemporary management of HGRT in the United States and also evaluate clinical factors associated with nephrectomy after HGRT. METHODS: From 2014 to 2017, data on HGRT (American Association for the Surgery of Trauma [AAST] grades III-V) were collected from 14 participating Level-1 trauma centers...
January 2, 2018: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/29290897/dose-related-effects-of-dexmedetomidine-on-immunomodulation-and-mortality-to-septic-shock-in-rats
#19
Yan Ma, Xiang-You Yu, Yi Wang
BACKGROUND: Dexmedetomidine has already been used in septic patients as a new sedative agent, few studies have examined its effects on immunomodulation. Therefore, the authors have designed a controlled experimental study to characterize the immunomodulation effects of dexmedetomidine in the cecal ligation and puncture (CLP) model in rats. METHODS: After CLP, 48 Wistar rats were randomly allocated into four groups: (1) CLP group; (2) small-dose treatment group (2...
2018: World Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29289517/-dietary-acid-load-a-novel-target-for-the-nephrologist
#20
Philippe Chauveau, Catherine Lasseur, Céline Nodimar, Mathilde Prezelin-Reydit, Stanislas Trolonge, Christian Combe, Michel Aparicio
The acid production of endogenous origin depends mainly on the metabolism of the food and varies with the nature of these. Of the order of 1mEq/kg/day for contemporary food in industrialized countries, it is reduced by more than one third among vegetarians and close to neutrality among vegans. The dietary acid load is eliminated by the normal kidneys, thus maintaining the acid-base equilibrium. In the setting of CKD, it will overflow the capacities of the nephrons, generating a retention of H+ ions, promoting subclinical acidosis...
December 27, 2017: Néphrologie & Thérapeutique
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