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https://www.readbyqxmd.com/read/28222034/three-cases-of-gordon-syndrome-with-dominant-klhl3-mutations
#1
Ji Soo Park, Eujin Park, Hye Sun Hyun, Yo Han Ahn, Hee Gyung Kang, Il-Soo Ha, Hae Il Cheong
BACKGROUND: Gordon syndrome (GS) is a rare form of monogenic hypertension characterized by low renin hypertension, hyperkalemia, hyperchloremic metabolic acidosis, and normal glomerular filtration rate. To date, four genes causing GS have been identified as: WNK1, WNK4, CUL3, and KLHL3. CASE REPORT: We report three cases of GS in two families. All patients presented with typical clinical features of GS and had a known dominant KLHL3 mutation. Oral thiazide treatment with low salt diet resulted in normalization of blood pressure and serum electrolytes in all three cases...
February 21, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28221141/-etiopathogenic-factors-of-the-different-types-of-urinary-litiasis
#2
Miguel Arrabal-Martín, María Carmen Cano-García, Miguel Ángel Arrabal-Polo, Alejandro Domínguez-Amillo, Nelson Canales-Casco, Javier de la Torre-Trillo, José Manuel Cózar-Olmo
In this review, we analyze the etiopathogenic principles of urinary lithiasis formation. In the kidney, calcifications that may cause renal lithiasis are produced as a consequence of processes that injury the urothelium at the papilla and Bellini's ducts. With the improvement of imaging techniques, mainly micro CT scan, it is possible to detect them and we may be able to anticipate to the formation of lithiasis. As we well know, there are different factors that influence the formation of the calculi depending on their composition...
January 2017: Archivos Españoles de Urología
https://www.readbyqxmd.com/read/28220733/metabolic-acidosis-in-a-patient-with-metformin-overdose
#3
I Ebrahim, M Blockman
We report a rare fatal case of acute metformin overdose in a 19-year-old woman.
January 30, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/28220579/long-term-results-of-ileal-ureteric-replacement-a-25-years-single-centre-experience
#4
Arkadius Kocot, Charis Kalogirou, Daniel Vergho, Hubertus Riedmiller
OBJECTIVES: To report the long-term outcome of ileal ureteric replacement (IUR) in complex reconstruction of the urinary tract. PATIENTS AND METHODS: From 1991 to 2016, IUR was performed in 157 patients with structural or functional ureteric loss. In 52 patients, bilateral IUR became necessary. Implantation sites where either the native urinary bladder (n=79) or intestinal reservoirs (n=78). In the latter group, the technique was used at the time of primary urinary diversion (n=34), in a secondary approach (n=29) and in undiversion or conversion procedures (n=15)...
February 20, 2017: BJU International
https://www.readbyqxmd.com/read/28212474/-zinc-phosphide-poisoning-in-pediatric-patients-from-a-toxicology-center-at-mexico-city
#5
María Carmen Socorro Sánchez-Villegas, Alejandro Bárcena-Ruiz
BACKGROUND: Zinc phosphide is a chemical compound that is frequently used as a rodenticide; it is a highly toxic product that is widely used, among other spaces, at home. Given that it is a highly commercialized pesticide and that there is no antidote, it is mandatory to establish favorably the clinical manifestations of the intoxication. The aim was to describe the epidemiological and clinical profile of children intoxicated with zinc phosphide attended in a toxicological center of a tertiary referral hospital...
2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28209079/acid-base-disorders-after-orthotopic-bladder-replacement-comparison-of-an-ileal-neobladder-and-an-ileal-conduit
#6
AJin Cho, Seung Min Lee, Jung Woo Noh, Don Kyoung Choi, Yongseong Lee, Sung Tae Cho, Ki Kyung Kim, Young Goo Lee, Young Ki Lee
OBJECTIVES: For many years, creation of an orthotopic neobladder after cystectomy has been popular. In the present study, we measured the extent of metabolic acidosis in patients with ileal neobladders compared with ileal conduits and defined risk factors for development of metabolic acidosis. METHODS: We retrospectively studied 95 patients, who underwent radical cystectomy and urinary diversion to treat invasive bladder cancer from January 2001 to December 2014 at Hallym University Kangnam Sacred Heart Hospital, through investigation of acid-base balance, serum electrolyte levels and renal function one month and one year after operation...
November 2017: Renal Failure
https://www.readbyqxmd.com/read/28202121/-oliguria-and-acute-renal-dysfunction-in-a-six-month-old-infant
#7
Ya-Jie Cui, Chun-Lan Song, Yi-Bing Cheng
The infant (a girl aged 6 months) was admitted to the hospital because of oliguria and acute renal dysfunction. The laboratory examination results showed serious metabolic acidosis and increased blood urea nitrogen and serum creatinine levels. The patient continued to be anuric after 10 days of treatment with continuous renal replacement therapy (CRRT). she died a day later. The family history showed that the patient's sister died of acute renal failure 6 months after birth. The genomic sequencing results showed AGXT mutation in the patient and confirmed the diagnosis of primary hyperoxaluria type 1 (PH1)...
February 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28197054/hyperchloremic-metabolic-acidosis-following-total-gut-irrigation-with-normal-saline-in-pediatric-patients-a-rare-occurrence
#8
Indu Bala, Deepak Dwivedi, Divya Jain, Jai Kumar Mahajan
Use of 0.9% sodium chloride for total gut irrigation (TGI) through nasogastric route is an effective method of bowel preparation in children undergoing colorectal surgeries. TGI with normal saline (NS) can result in nausea, vomiting, abdominal distension, and mild electrolyte imbalance; however, hyperchloremic metabolic acidosis has not been documented. We report two cases of hyperchloremic metabolic acidosis in children posted for colorectal surgery following TGI with NS who were successfully managed.
January 2017: Indian Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/28192243/the-influence-of-mechanical-ventilation-on-physiological-parameters-in-ball-pythons-python-regius
#9
Sashia L Jakobsen, Catherine J A Williams, Tobias Wang, Mads F Bertelsen
Mechanical ventilation is widely recommended for reptiles during anesthesia, and while it is well-known that their low ectothermic metabolism requires much lower ventilation than in mammals, very little is known about the influence of ventilation protocol on the recovery from anesthesia. Here, 15 ball pythons (Python regius) were induced and maintained with isoflurane for 60min at one of three ventilation protocols (30, 125, or 250mlmin(-1)kg(-1) body mass) while an arterial catheter was inserted, and ventilation was then continued on 100% oxygen at the specified rate until voluntary extubation...
February 10, 2017: Comparative Biochemistry and Physiology. Part A, Molecular & Integrative Physiology
https://www.readbyqxmd.com/read/28191541/metabolic-acidosis-status-and-mortality-in-patients-on-the-end-stage-of-renal-disease
#10
Vaia D Raikou
BACKGROUND AND OBJECTIVES: Uncorrected metabolic acidosis leads to higher death risk in dialysis patients. We observed the relationship between metabolic acidosis status and mortality rate in patients on renal replacement therapy during a median follow up time of 60 months. METHODS: We studied 76 patients on an on-line hemodiafiltration. The dialysis adequacy was defined by Kt/V for urea. The Framingham risk score (FRS) points were used to determine the 10-year risk for coronary heart disease...
December 1, 2016: Journal of Translational Internal Medicine
https://www.readbyqxmd.com/read/28191327/transdermal-spirit-methanol-poisoning-a-case-report
#11
Hatice Dogan, Banu Yilmaz Karakus, Kubra Serefoglu Cabuk, Ozlem Uzun, Huseyin Yenice, Aysun Orucoglu
INTRODUCTION: Methanol is a highly toxic substance and methanol poisoning results in severe health situations. Methanol poisoning occurs when it is consumed by various methods such as orally, by inhalation, and transdermally. Transdermal poisoning is rarely seen and causes severe health complications. CASE PRESENTATION: A 59-year-old male patient was admitted to the emergency room due to blurred vision and knee pain. He had wrapped alcohol soaked cotton around his knees because of pain, and left it for 10 hours at night...
November 2016: Iranian Red Crescent Medical Journal
https://www.readbyqxmd.com/read/28188436/clinical-and-molecular-aspects-of-distal-renal-tubular-acidosis-in-children
#12
Martine T P Besouw, Marc Bienias, Patrick Walsh, Robert Kleta, William G Van't Hoff, Emma Ashton, Lucy Jenkins, Detlef Bockenhauer
BACKGROUND: Distal renal tubular acidosis (dRTA) is characterized by hyperchloraemic metabolic acidosis, hypokalaemia, hypercalciuria and nephrocalcinosis. It is due to reduced urinary acidification by the α-intercalated cells in the collecting duct and can be caused by mutations in genes that encode subunits of the vacuolar H(+)-ATPase (ATP6V1B1, ATP6V0A4) or the anion exchanger 1 (SLC4A1). Treatment with alkali is the mainstay of therapy. METHODS: This study is an analysis of clinical data from a long-term follow-up of 24 children with dRTA in a single centre, including a genetic analysis...
February 10, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28188168/metformin-associated-lactic-acidosis-treated-with-continuous-renal-replacement-therapy
#13
Akihide Nakamura, Kei Suzuki, Hiroshi Imai, Naoyuki Katayama
Metformin-associated lactic acidosis (MALA) is a rare but life-threatening complication. We report a case of MALA in a man aged 71 years who was treated with continuous renal replacement therapy (CRRT). The patient was brought to the hospital for prolonged and gradual worsening gastrointestinal symptoms. Although he received intravenous treatment, he developed catecholamine-resistant shock, and blood gas analysis revealed lactic acidosis. Bicarbonate and antibiotics for possible sepsis were initiated, but with no clear benefit...
February 10, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28188165/indomethacin-therapy-effective-in-a-patient-with-depletion-syndrome-from-secretory-villous-adenoma
#14
Matthew David Kagan, Kara Schmidt, Gurtej Sangha
This paper details the case of a 26-year-old woman with depletion syndrome and the effectiveness of her treatment with indomethacin. Villous adenomas are benign neoplasms with a high incidence of becoming malignant. A small percentage of villous adenomas are known to cause depletion syndrome, also referred to as the McKittrick-Wheelock syndrome, a condition characterised by secretory diarrhoea, dehydration, hyponatremia, hypokalaemia, hypochloraemia, metabolic acidosis and acute renal failure. Prostaglandin-E2 mediates the hypersecretion mechanism observed in depletion syndrome, and can be inhibited by cyclo-oxygenase inhibitors...
February 10, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28179470/phase-i-ii-multicenter-ketogenic-diet-study-for-adult-superrefractory-status-epilepticus
#15
Mackenzie C Cervenka, Sara Hocker, Matthew Koenig, Barak Bar, Bobbie Henry-Barron, Eric H Kossoff, Adam L Hartman, John C Probasco, David R Benavides, Arun Venkatesan, Eliza C Hagen, Denise Dittrich, Tracy Stern, Batya Radzik, Marie Depew, Filissa M Caserta, Paul Nyquist, Peter W Kaplan, Romergryko G Geocadin
OBJECTIVE: To investigate the feasibility, safety, and efficacy of a ketogenic diet (KD) for superrefractory status epilepticus (SRSE) in adults. METHODS: We performed a prospective multicenter study of patients 18 to 80 years of age with SRSE treated with a KD treatment algorithm. The primary outcome measure was significant urine and serum ketone body production as a biomarker of feasibility. Secondary measures included resolution of SRSE, disposition at discharge, KD-related side effects, and long-term outcomes...
February 8, 2017: Neurology
https://www.readbyqxmd.com/read/28177094/-analysis-of-the-parameters-traditional-or-not-for-the-evaluation-of-the-metabolic-acidosis
#16
Caterina Urso, Salvatore Brucculeri, Caterina Carollo, Gregorio Caimi
Despite huge progress in acidbase knowledge, several confusing, irrational and controversial issues still remain. Acid-base disturbances have been usually evaluated with the traditional Henderson-Hasselbach method and with BE evaluation that seem inadequate since they define the magnitude of metabolic acidosis rather than its cause. Some studies have shown that the traditional approach is often not able to highlight the complicated acid-base disorders in critically ill patients; in these subjects, the possibility to identify tissue acids could offer a greater prognostic value than the evaluation of traditional parameters...
January 2017: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/28169046/ileal-neobladder-an-important-cause-of-non-anion-gap-metabolic-acidosis
#17
Jesse W St Clair, Matthew L Wong
BACKGROUND: The differential diagnosis for a non-anion gap metabolic acidosis is probably less well known than the differential diagnosis for an anion gap metabolic acidosis. One etiology of a non-anion gap acidosis is the consequence of ileal neobladder urinary diversion for the treatment of bladder cancer. CASE REPORT: We present a case of a patient with an ileal neobladder with a severe non-anion gap metabolic acidosis caused by a urinary tract infection and ureteroenterostomy...
February 3, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28168233/a-case-of-severe-corrosive-esophagitis-gastritis-and-liver-necrosis-caused-by-ingestion-of-methyl-ethyl-ketone-peroxide
#18
Jung Oh Chang, Jeong Woo Choi, Yong Hwang
The plastic hardener methyl ethyl ketone peroxide is unstable peroxide that releases free oxygen radicals. Ingestion of this compound induces widespread liver necrosis, severe metabolic acidosis, corrosive esophagitis and gastritis, that is often fatal. A 49-year-old man unintentionally ingested approximately 100 mL (55%) of this compound in solution, which was purchased as plastic hardener. Despite resuscitation, he died about 11 hours after admission. We report a patient with poisoning due to methyl ethyl ketone peroxide who presented with corrosive esophagitis and gastritis, gastrointestinal bleeding, and developed ischemia of the bowel and necrosis of the liver and died of severe metabolic acidosis and multiorgan failure...
December 2016: Clinical and Experimental Emergency Medicine
https://www.readbyqxmd.com/read/28166084/unexpected-complication-of-cocaine-associated-anti-neutrophil-cytoplasmic-antibody-vasculitis-related-to-persistent-in-hospital-cocaine-use
#19
Travis D Olives, Rebecca L Kornas, Russell Fujisawa, Jon B Cole
INTRODUCTION: Levamisole-adulterated cocaine has been implicated in anti-neutrophil cytoplasmic antibody (ANCA) vasculitis. We present a case of spontaneous intraperitoneal hemorrhage, an unexpectedly severe complication of cocaine-related ANCA vasculitis, developing late during hospitalization. CASE REPORT: An adult male with a history of hepatitis C, distant cocaine use, and limited health care presented to a local emergency department (ED) with volume overload, renal failure, hyperkalemia and non-anion gap metabolic acidosis...
February 3, 2017: Journal of Addiction Medicine
https://www.readbyqxmd.com/read/28164653/blast-burn-combined-injury-followed-by-immediate-seawater-immersion-induces-hemodynamic-changes-and-metabolic-acidosis-an-experimental-study-in-a-canine-model
#20
Yi Hu, Qingxiang Mao, Shaobing Ye, Ji Peng, Xiaoqin Gan, Xian Chen, Hong Yan
BACKGROUND: Severe burn-blast combined injury often causes systematic dysfunction related to blood coagulation, anticoagulation, and fibrinolysis. However, studies of burn-blast combined injury followed by immersion in seawater are rarely reported. METHODS: A canine burn-blast combined injury model was established including blast injury caused by explosion immediately followed by burning with gelatinized gasoline flames. The dogs were randomly divided into four groups: burn-blast injury (BB group); burn-blast injury followed by seawater immersion for four hours (BBI group); only immersed in seawater (I group); and sham treatment with no injury or immersion (S group)...
July 1, 2016: Clinical Laboratory
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