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Journal of the ASEAN Federation of... 2023The majority of patients with congenital adrenal hyperplasia (CAH) present with a deficiency of 21-hydroxylase or 11-beta-hydroxylase, which account for 90% and 7% of...
The majority of patients with congenital adrenal hyperplasia (CAH) present with a deficiency of 21-hydroxylase or 11-beta-hydroxylase, which account for 90% and 7% of cases, respectively. However, CAH due to 17α-hydroxylase deficiency (17OHD) is an extremely rare form of CAH (<1% of all CAH cases) that leads to a deficiency of cortisol and sex steroids, along with features of aldosterone excess. This is a case of a 51-year-old single female who was referred to us for the evaluation of new-onset hypertension and hypokalaemia of one-year duration. She was born out of a second-degree consanguineous marriage and reared as a female. She was diagnosed to have testicular feminization syndrome when she presented with a history of primary amenorrhea, absence of secondary sexual characteristics, and bilateral labial swellings at pubertal age. Subsequently, she underwent gonadectomy at the age of 16. Due to the presence of hypertension, metabolic alkalosis and bilaterally enlarged adrenals on CT scan, 46, XY disorders of sexual development (DSD) was considered. A karyotype confirmed the presence of 46, XY chromosomal sex, and genetic analysis revealed a mutation in the gene, thus confirming the diagnosis of 17α-hydroxylase deficiency.
Topics: Male; Humans; Female; Adolescent; Middle Aged; Adrenal Hyperplasia, Congenital; Steroid 17-alpha-Hydroxylase; Hydrocortisone; Steroid 11-beta-Hydroxylase; Hypertension
PubMed: 38045661
DOI: 10.15605/jafes.038.02.08 -
BMC Nephrology Nov 2023Prolonged hemodialysis (HD) is performed from 6 to 12 h and can last up to 24 h. To prevent system clotting some studies suggest that Regional Citrate Anticoagulation...
Quality indicators in prolonged hemodialysis with regional citrate anticoagulation with the genius system: retrospective cohort of critical patients with acute kidney injury.
BACKGROUND
Prolonged hemodialysis (HD) is performed from 6 to 12 h and can last up to 24 h. To prevent system clotting some studies suggest that Regional Citrate Anticoagulation (RCA) use reduces bleeding rates relative to systemic heparin. However, there may be difficulties in the patient's clinical management and completing the prescribed HD with Genius system using RCA.
OBJECTIVE
To analyze safety Quality Indicators (IQs) and follow up on prolonged HD with 4% sodium citrate solution in a Genius® hybrid system.
METHODS
This is a retrospective cohort conducted in an intensive care unit.
RESULTS
53 random sessions of prolonged HD with 4% sodium citrate solution of critically ill patients with AKI assessed. Evaluated safety indicators were dysnatremia and metabolic alkalosis, observed in 15% and 9.4% of the sessions, respectively. Indicators of effectiveness were system clotting which occurred in 17.3%, and the minimum completion of the prescribed HD time, which was 75.5%.
CONCLUSION
The assessment of the indicators showed that the use of RCA with a 4% sodium citrate solution in prolonged HD with the Genius system in critically ill patients with AKI can be performed in a simple, safe, and effective way.
Topics: Humans; Acute Kidney Injury; Anticoagulants; Citrates; Citric Acid; Critical Illness; Heparin; Quality Indicators, Health Care; Renal Dialysis; Retrospective Studies; Sodium Citrate
PubMed: 38036951
DOI: 10.1186/s12882-023-03342-8 -
Clinical Case Reports Dec 2023Managing mixed acid-base disorders can be diagnostically challenging, particularly when metabolic acidosis and metabolic alkalosis occur simultaneously. When dealing...
Managing mixed acid-base disorders can be diagnostically challenging, particularly when metabolic acidosis and metabolic alkalosis occur simultaneously. When dealing with metabolic alkalosis, a comprehensive approach involves taking a detailed medical history, assessing volume status, and performing urine chloride analysis. Routine calculation of the anion gap is important to identify masked wide anion gap metabolic acidosis. We report a case of a 32-year-old female with type 1 diabetes mellitus, presented with intractable vomiting for 2 days with hyperglycemia, hypokalemia, and metabolic alkalosis, along with a wide anion gap. She was diagnosed with "diabetic ketoalkalosis" due to diabetic ketoacidosis combined with vomiting-induced metabolic alkalosis. She became clinically stable after resuscitation with normal saline, intravenous potassium, and intravenous insulin.
PubMed: 38033688
DOI: 10.1002/ccr3.8250 -
Kidney International Reports Nov 2023Excessive dialytic potassium (K) and acid removal are risk factors for arrhythmias; however, treatment-to-treatment dialysate modification is rarely performed. We...
INTRODUCTION
Excessive dialytic potassium (K) and acid removal are risk factors for arrhythmias; however, treatment-to-treatment dialysate modification is rarely performed. We conducted a multicenter, pilot randomized study to test the safety, feasibility, and efficacy of 4 point-of-care (POC) chemistry-guided protocols to adjust dialysate K and bicarbonate (HCO3) in outpatient hemodialysis (HD) clinics.
METHODS
Participants received implantable cardiac loop monitors and crossed over to four 4-week periods with adjustment of dialysate K or HCO3 at each treatment according to pre-HD POC values: (i) K-removal minimization, (ii) K-removal maximization, (iii) Acidosis avoidance, and (iv) Alkalosis avoidance. The primary end point was percentage of treatments adhering to the intervention algorithm. Secondary endpoints included pre-HD K and HCO variability, adverse events, and rates of clinically significant arrhythmias (CSAs).
RESULTS
Nineteen subjects were enrolled in the study. HD staff completed POC testing and correctly adjusted the dialysate in 604 of 708 (85%) of available HD treatments. There was 1 K ≤3, 29 HCO3 <20 and 2 HCO3 >32 mEq/l and no serious adverse events related to study interventions. Although there were no significant differences between POC results and conventional laboratory measures drawn concurrently, intertreatment K and HCO3 variability was high. There were 45 CSA events; most were transient atrial fibrillation (AF), with numerically fewer events during the alkalosis avoidance period (8) and K-removal maximization period (3) compared to other intervention periods (17). There were no significant differences in CSA duration among interventions.
CONCLUSION
Algorithm-guided K/HCO3 adjustment based on POC testing is feasible. The variability of intertreatment K and HCO3 suggests that a POC-laboratory-guided algorithm could markedly alter dialysate-serum chemistry gradients. Definitive end point-powered trials should be considered.
PubMed: 38025214
DOI: 10.1016/j.ekir.2023.07.039 -
Translational Animal Science 2023() is an endemic zoonotic pathogen still lacking adequate prevention in pigs. The present case study looked back to the occurrence and consequences of outbreaks in our...
() is an endemic zoonotic pathogen still lacking adequate prevention in pigs. The present case study looked back to the occurrence and consequences of outbreaks in our swine research facilities in search of new metabolic and physiological insight. From a series of outbreaks, a dataset was created including 56 pigs sampled during disease detection based on clinical signs. Pigs suspected with infection were defined as diseased ( = 28) and included pigs defined as neurologically diseased ( = 20) when severe neurological signs (central nervous system dysfunctions, i.e., opisthotonos, ataxia, and generalized tremor) were observed. Another set of 28 pigs included respective pen mates from each case and were defined as control. Representative deaths were confirmed to be caused by Tonsillar swabs were collected and analyzed by quantitative polymerase chain reaction () for total bacteria, total , and serotypes () 2 (and/or 1/2) and 9. Blood and sera were analyzed to quantify blood gases, minerals, and reactive immunoglobulins against current isolates. Data collected included litter sibling associations, birth and weaning body weight (), and average daily gain () 7 d after the disease detection. In general, the disease increased pH, sO and the incidence of alkalosis, but reduced pCO, glucose, Ca, P, Mg, K, and Na in blood/serum compared to control. The SS2 (and/or SS1/2) prevalence was significantly ( < 0.05) increased in neurologically diseased pigs and its relative abundance tended ( < 0.10) to increase in tonsils. In contrast, the relative abundance of total was lower ( > 0.05) in diseased pigs than control pigs. Levels of reactive IgG2 were lower, but IgM were higher ( < 0.03) in neurologically affected pigs compared to control. Furthermore, there was an increased proportion of sibling pigs that were diseased compared to control. In conclusion, our results evidence that naturally affected pigs were associated to average performing pigs without any predisease trait to highlight but a sow/litter effect. Besides, neurologically affected pigs had increased (SS2 and/or 1/2) prevalence and relative abundance, a respiratory alkalosis profile, and mineral loss.
PubMed: 38023423
DOI: 10.1093/tas/txad126 -
CEN Case Reports Nov 2023Normal saline (NS) is recommended for the treatment of chloride-depletion alkalosis (CDA). However, its use in patients with drinking water restrictions or fluid volume...
Normal saline (NS) is recommended for the treatment of chloride-depletion alkalosis (CDA). However, its use in patients with drinking water restrictions or fluid volume deficiencies may lead to hypernatremia. We report the case of a 42-year-old Japanese man with ileus due to sigmoidal volvulus, who presented with CDA. After endoscopic decompression, NS was administered to treat the CDA. Despite the administration of NS, CDA persisted and hypernatremia developed. The infusion was then changed to high cation-gap amino acids (HCG-AA), which improved both metabolic alkalosis and hypernatremia. Thus, HCG-AA may be useful for the treatment of hypernatremia in patients with CDA.
PubMed: 37991678
DOI: 10.1007/s13730-023-00837-z -
Medicine Nov 2023Staphylococcus argenteus (S argenteus) is a novel and emerging species that is part of the Staphylococcus aureus (S aureus) complex. Fatal cases of bloodstream infection...
RATIONALE
Staphylococcus argenteus (S argenteus) is a novel and emerging species that is part of the Staphylococcus aureus (S aureus) complex. Fatal cases of bloodstream infection caused by S argenteus are rarely reported and should be considered in medical practice.
PATIENT CONCERNS
A 44-year-old male was admitted to our hospital with reduced appetite, high fever and unconsciousness. Laboratory tests indicated infection, muscle damage, and alkalosis in the patient. Brain computed tomography (CT) demonstrated small hematoma in left frontal lobe with peripheral cerebral edema. Chest CT demonstrating chronic bronchitis, emphysema, and bullae in the right lung. Blood culture was collected on the first day of hospitalization for microbial culture and pathological examination.
DIAGNOSIS
The isolate from blood culture was identified as S argenteus by MALDI-TOF MS after the patient death.
INTERVENTIONS
The patient was subjected to empirical antibiotic treatment with piperacillin/tazobactam.
OUTCOMES
After 48 hours of hospitalization, the patient died after ineffective rescue.
LESSONS
The patient had long-term heavy drinking and smoking as well as chronic malnutrition, which may account for his immune deficiency. The immunocompromised people are more vulnerable to infection by S argenteus and then develop bacteremia. The use of piperacillin/tazobactam may have contributed to the patient death.
Topics: Male; Humans; Adult; Staphylococcus; Staphylococcal Infections; Staphylococcus aureus; Bacteremia; Anti-Bacterial Agents; Piperacillin, Tazobactam Drug Combination
PubMed: 37986387
DOI: 10.1097/MD.0000000000035866 -
Neuroscience and Biobehavioral Reviews Dec 2023High Ventilation Breathwork (HVB) refers to practices employing specific volitional manipulation of breathing, with a long history of use to relieve various forms of... (Review)
Review
High Ventilation Breathwork (HVB) refers to practices employing specific volitional manipulation of breathing, with a long history of use to relieve various forms of psychological distress. This paper seeks to offer a consolidative insight into potential clinical application of HVB as a treatment of psychiatric disorders. We thus review the characteristic phenomenological and neurophysiological effects of these practices to inform their mechanism of therapeutic action, safety profiles and future clinical applications. Clinical observations and data from neurophysiological studies indicate that HVB is associated with extraordinary changes in subjective experience, as well as with profound effects on central and autonomic nervous systems functions through modulation of neurometabolic parameters and interoceptive sensory systems. This growing evidence base may guide how the phenomenological effects of HVB can be understood, and potentially harnessed in the context of such volitional perturbation of psychophysiological state. Reports of putative beneficial effects for trauma-related, affective, and somatic disorders invite further research to obtain detailed mechanistic knowledge, and rigorous clinical testing of these potential therapeutic uses.
Topics: Humans; Yoga; Respiration; Autonomic Nervous System; Mental Disorders; Psychophysiology
PubMed: 37923236
DOI: 10.1016/j.neubiorev.2023.105453 -
JCEM Case Reports Mar 2023Bartter syndrome type 1 is caused by mutations in the solute carrier family 12 member 1 (), encoding the sodium-potassium-chloride cotransporter-2 (NKCC2). In addition...
Bartter syndrome type 1 is caused by mutations in the solute carrier family 12 member 1 (), encoding the sodium-potassium-chloride cotransporter-2 (NKCC2). In addition to causing renal salt-losing tubulopathy, mutations are known to cause nephrocalcinosis due to hypercalciuria, as well as failure to thrive associated with abnormal calcium and phosphorus homeostasis. We report a now 7-year-old Japanese girl with polyuria, hyponatremia, hypokalemia, and metabolic alkalosis, in whom compound heterozygous novel mutations were identified. Elevated parathyroid hormone (PTH) levels were consistently noted after the age of 1 year in conjunction with gradually declining serum calcium and increasing serum phosphorus levels. To confirm suspected PTH-resistance, Ellsworth Howard tests were performed at the ages of 6 years 8 months and 6 years 10 months in the absence or presence of ibuprofen, respectively. Urinary adenosine 3',5'-cyclic monophosphate excretion increased on both occasions in response to PTH(1-34) infusion suggesting pseudohypoparathyroidism type II. However, only during treatment with ibuprofen did PTH induce an almost normal phosphaturic response. The nonsteroidal anti-inflammatory drugs thus enhanced growth velocity, alleviated hypercalciuria, and increased PTH-stimulated urinary phosphorus excretion without significantly affecting renal function.
PubMed: 37908481
DOI: 10.1210/jcemcr/luad019 -
JCEM Case Reports Jan 2023Ectopic adrenocorticotropic hormone (ACTH)-secreting syndrome (EAS) is a rare but often aggressive paraneoplastic syndrome. Patients with EAS typically present with high...
Ectopic adrenocorticotropic hormone (ACTH)-secreting syndrome (EAS) is a rare but often aggressive paraneoplastic syndrome. Patients with EAS typically present with high ACTH levels and rapid clinical progression in the setting of acute cortisol elevation, which can delay diagnosis due to a lack of typical Cushingoid features. High levels of ACTH have also been shown to stimulate the adrenal zona glomerulosa to oversecrete aldosterone. We present the case of a 58-year-old male individual presenting with new-onset hypertension and severe metabolic alkalosis with spontaneous hypokalemia, in the setting of elevated aldosterone and low renin levels, suggestive of primary aldosteronism. Subsequent biochemical testing, imaging, and pathology, however, revealed suppression of aldosterone with evidence of hypercortisolism in the setting of metastatic small cell lung cancer. This was, therefore, suggestive of pseudo primary aldosteronism in the setting of a paraneoplastic ectopic ACTH-producing syndrome. This case highlights that hypercortisolism, in the setting of EAS, can initially present with a clinical picture suggestive of hyperaldosteronism. The use of a dexamethasone suppression test can allow the clinician to differentiate between idiopathic bilateral adrenal hyperplasia and ectopic ACTH syndrome.
PubMed: 37908248
DOI: 10.1210/jcemcr/luac020