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Pediatric Gastroenterology, Hepatology... Mar 2024Infantile hypertrophic pyloric stenosis (IHPS) is a common gastrointestinal disease in neonates and hypochloremia metabolic alkalosis is a typical laboratory finding in...
PURPOSE
Infantile hypertrophic pyloric stenosis (IHPS) is a common gastrointestinal disease in neonates and hypochloremia metabolic alkalosis is a typical laboratory finding in affected patients. This study aimed to analyze the clinical characteristics of infants with IHPS and evaluate the association of clinical and laboratory parameters with ultrasonographic findings.
METHODS
Infants diagnosed with IHPS between January 2017 and July 2022 were retrospectively evaluated.
RESULTS
A total of 67 patients were included in the study. The mean age at diagnosis was 40.5±19.59 days, and the mean symptom duration was 11.97±9.91 days. The mean pyloric muscle thickness and pyloric canal length were 4.87±1.05 mm and 19.6±3.46 mm, respectively. Hyponatremia and metabolic alkalosis were observed in five (7.5%) and 36 (53.7%) patients, respectively. Serum sodium (=0.011), potassium (=0.023), and chloride levels (=0.015) were significantly lower in patients with high bicarbonate levels (≥30 mmol/L). Furthermore, pyloric canal length was significantly higher in patients with high bicarbonate levels (=0.015). To assess metabolic alkalosis in IHPS patients, the area under the receiver operating characteristic curve of pyloric canal length was 0.910 and the optimal cutoff value of the pyloric canal length was 23.5 mm.
CONCLUSION
We found a close association between laboratory and ultrasonographic findings of IHPS. Clinicians should give special consideration to patients with pyloric lengths exceeding 23.5 mm and appropriate fluid rehydration should be given to these patients.
PubMed: 38510581
DOI: 10.5223/pghn.2024.27.2.88 -
Endocrine Journal May 2024Bartter syndrome (BS) is a rare, inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism, hypokalemia, hypochloremia, metabolic... (Review)
Review
Bartter syndrome (BS) is a rare, inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism, hypokalemia, hypochloremia, metabolic alkalosis, and low-to-normal blood pressure. Classic BS, or BS Type 3, the most common subtype in the Asian population, is caused by a molecular defect in ClC-Kb, a voltage-gated chloride channel in renal tubules, due to CLCNKB gene mutation. Because the onset of BS is more common in children than in adults, the diagnosis, treatment outcomes, genotype/phenotype association, and follow-up of adult-onset BS Type 3 are limited. This case report describes the findings in a 20-year-old man who was admitted with hypokalemic paralysis, with clinical manifestations were similar to those of Gitelman syndrome (GS); however, the patient was later diagnosed to have BS Type 3 through genetic testing (NM_000085.4 (CLCNKB): c.1052G>T). A literature review showed that no homozygous mutations have been reported to date. After 5 years of treatment and follow-up, we found that this genotype requires high levels of potassium and is prone to urinary protein and metabolic syndrome. Distinguishing adult-onset BS from GS is challenging in clinical practice. However, genetic diagnosis can help solve this problem effectively, and genotypes play a guiding role in treatment planning.
Topics: Humans; Male; Young Adult; Bartter Syndrome; Chloride Channels; Follow-Up Studies; Gitelman Syndrome; Mutation
PubMed: 38508775
DOI: 10.1507/endocrj.EJ23-0631 -
Clinical and Experimental Nephrology Mar 2024This study aimed to analyze genotype-phenotype correlations in children with Gitelman syndrome (GS).
BACKGROUND
This study aimed to analyze genotype-phenotype correlations in children with Gitelman syndrome (GS).
METHODS
This multicenter retrospective study included 50 Korean children diagnosed with SLC12A3 variants in one or both alleles and the typical laboratory findings of GS. Genetic testing was performed using the Sanger sequencing except for one patient.
RESULTS
The median age at the diagnosis was 10.5 years (interquartile range, 6.8;14.1), and 41 patients were followed up for a median duration of 5.4 years (interquartile range, 4.1;9.6). A total of 30 different SLC12A3 variants were identified. Of the patients, 34 (68%) had biallelic variants, and 16 (32%) had monoallelic variants on examination. Among the patients with biallelic variants, those (n = 12) with the truncating variants in one or both alleles had lower serum chloride levels (92.2 ± 3.2 vs. 96.5 ± 3.8 mMol/L, P = 0.002) at onset, as well as lower serum potassium levels (3.0 ± 0.4 vs. 3.4 ± 0.3 mMol/L, P = 0.016), and lower serum chloride levels (96.1 ± 1.9 vs. 98.3 ± 3.0 mMol/L, P = 0.049) during follow-up than those without truncating variants (n = 22). Patients with monoallelic variants on examination showed similar phenotypes and treatment responsiveness to those with biallelic variants.
CONCLUSIONS
Patients with GS who had truncating variants in one or both alleles had more severe electrolyte abnormalities than those without truncating variants. Patients with GS who had monoallelic SLC12A3 variants on examination had almost the same phenotypes, response to treatment, and long-term prognosis as those with biallelic variants.
PubMed: 38478191
DOI: 10.1007/s10157-024-02474-x -
Indian Journal of Critical Care... Mar 2024Intensive care unit (ICU) patients face a significant rise in mortality rates due to acute hypoxemic respiratory failure (AHRF). The diagnosis of AHRF is based on the PF...
A Prospective Observational Study Comparing Oxygen Saturation/Fraction of Inspired Oxygen Ratio with Partial Pressure of Oxygen in Arterial Blood/Fraction of Inspired Oxygen Ratio among Critically Ill Patients Requiring Different Modes of Oxygen Supplementation in Intensive Care Unit.
BACKGROUND
Intensive care unit (ICU) patients face a significant rise in mortality rates due to acute hypoxemic respiratory failure (AHRF). The diagnosis of AHRF is based on the PF ratio, but it has limitations in resource-constrained settings. Instead, the Kigali modification suggests using the oxygen saturation/fraction of inspired oxygen (SF) ratio. This study aims to correlate SF ratio and arterial oxygen pressure (PF) ratio in critically ill adults with hypoxemic respiratory failure, who required O therapy through different modes of oxygen supplementation.
MATERIALS AND METHODS
In an ICU, a prospective observational study included 125 adult AHRF patients receiving oxygen therapy, with data collected on FiO, PaO, and SpO. The SF ratio and PF ratio were calculated, and their correlation was assessed using statistical analysis. The receiver operator characteristics (ROC) curve analysis was conducted to assess the diagnostic precision of the SF ratio in identifying AHRF.
RESULTS
Data from a total of 250 samples were collected. The study showed a positive correlation ( = 0.622) between the SF ratio and the PF ratio. The SF threshold values of 252 and 321 were established for PF values of 200 and 300, respectively, featuring a sensitivity of 69% and specificity of 95%. Furthermore, it is worth noting that the PF ratio and SF ratio are interchangeable, regardless of the type of oxygen therapy, as the median values of both the PF ratio and SF ratio displayed statistical significance ( < 0.01) in both acidosis and alkalosis conditions.
CONCLUSION
For patients with AHRF, the noninvasive SF ratio can effectively serve as a substitute for the invasive PF ratio across all oxygen supplementation modes.
HOW TO CITE THIS ARTICLE
Alur TR, Iyer SS, Shah JN, Kulkarni S, Jedge P, Patil V. A Prospective Observational Study Comparing Oxygen Saturation/Fraction of Inspired Oxygen Ratio with Partial Pressure of Oxygen in Arterial Blood/Fraction of Inspired Oxygen Ratio among Critically Ill Patients Requiring Different Modes of Oxygen Supplementation in Intensive Care Unit. Indian J Crit Care Med 2024; 28(3):251-255.
PubMed: 38476998
DOI: 10.5005/jp-journals-10071-24652 -
Frontiers in Immunology 2024Autoimmune encephalitis is a neurological condition caused by abnormal immune responses, manifesting as cognitive impairments, behavioral abnormalities, and seizures....
Case report: Successful treatment of an anti-D2R and DPPX antibody-associated autoimmune encephalitis patient with high-dose methylprednisolone and intravenous immunoglobulin.
BACKGROUND
Autoimmune encephalitis is a neurological condition caused by abnormal immune responses, manifesting as cognitive impairments, behavioral abnormalities, and seizures. Its diagnosis depends on the detecting neuronal surface antibodies in serum or cerebrospinal fluid. Despite recent advances in understanding, clinical recognition remains challenging, especially with rare antibodies such as anti-dopamine D2 receptor (D2R) and anti-dipeptidyl-peptidase-like protein 6 (DPPX) antibodies. Delayed diagnosis can lead to severe complications. This case presentation emphasizes the diagnostic intricacies and effective treatment of the anti-D2R and DPPX antibody-associated autoimmune encephalitis.
CASE DESCRIPTION
The patient presented with a 3-day history of fatigue and limb soreness followed by a 3-h episode of confusion and limb convulsions. Upon admission to our facility, the initial diagnosis included status epilepticus, aspiration pneumonia, metabolic acidosis, respiratory alkalosis, and suspected encephalitis. Despite receiving antiepileptic, anti-infection, and antivirus therapy, the patient's condition deteriorated. Both computed tomography (CT) scan and magnetic resonance imaging (MRI) of the brain showed no significant abnormalities. No pathogen was identified in the cerebrospinal fluid (CSF). However, further CSF and serum examination revealed positive results of anti-D2R and anti-DPPX antibodies, confirming a diagnosis of anti-D2R and DPPX antibody-associated autoimmune encephalitis. The patient underwent a comprehensive treatment regimen, including high-dose methylprednisolone pulse therapy combined with intravenous immunoglobulin (IVIG), antiviral and anti-infection treatments, and antiepileptic medications. Significant clinical improvement was observed, and by the 18th day of admission, the patient was stable and coherent.
CONCLUSIONS
The current patient represents the first reported case of double-positive autoimmune encephalitis for anti-D2R and DPPX antibodies, with epilepsy as a prominent feature. High-dose methylprednisolone pulse therapy combined with IVIG has shown significant safety and efficacy in treating anti-D2R and DPPX antibody-positive autoimmune encephalitis-associated epilepsy.
Topics: Humans; Immunoglobulins, Intravenous; Methylprednisolone; Anticonvulsants; Encephalitis; Antibodies; Seizures; Autoimmune Diseases of the Nervous System; Epilepsy; Xanthines; Hashimoto Disease
PubMed: 38469308
DOI: 10.3389/fimmu.2024.1338714 -
Caspian Journal of Internal Medicine 2024Furosemide is a drug widely used for several medical conditions and could be used without medical prescription. Furosemide-related nephrocalcinosis can occur regardless...
BACKGROUND
Furosemide is a drug widely used for several medical conditions and could be used without medical prescription. Furosemide-related nephrocalcinosis can occur regardless of age, although the risk is higher in premature infants. The defining characteristic of nephrocalcinosis is generalized calcium deposition in the kidney. The most useful imaging studies for evaluation are ultrasonography and computed tomography (more effective in detecting calcification).
CASE PRESENTATION
A 32-year-old woman with a history of depressive syndrome was admitted for evaluation of fortuitously discovered nephrocalcinosis and hypokalemia. The studies performed revealed the presence of a metabolic alkalosis with discrete hyperreninism/hyperaldosteronism but normal ratio, normotension and urinary study showed elevated sodium, chloride, potassium and calcium fluctuating in different determinations. Surreptitious diuretic intake was suspected and urine analysis revealed doses equivalent to 80-120 mg. The patient was advised to discontinue all diuretic treatment; she was adequately supplemented with potassium and she was followed-up in outpatient clinics. During the follow-up, clinical and analytical improvement was noted, which led to the discontinuation of supplementation.
CONCLUSION
Surreptitious diuretic intake is a clinical condition to rule out in patients with chronic hypokalemia, metabolic alkalosis with elevated urinary sodium and chloride. The relation between surreptitious diuretic intake and nephrocalcinosis has not been fully elucidated in adults.
PubMed: 38463929
DOI: 10.22088/cjim.15.1.22 -
Seminars in Dialysis 2024Calcium-free (Ca-free) solutions are theoretically the most ideal for regional citrate anticoagulation (RCA) in continuous renal replacement therapy (CRRT). However, the... (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND
Calcium-free (Ca-free) solutions are theoretically the most ideal for regional citrate anticoagulation (RCA) in continuous renal replacement therapy (CRRT). However, the majority of medical centers in China had to make a compromise of using commercially available calcium-containing (Ca-containing) solutions instead of Ca-free ones due to their scarcity. This study was designed to probe into the potential of Ca-containing solution as a secure and efficient substitution for Ca-free solutions.
METHODS
In this prospective, randomized single-center trial, 99 patients scheduled for CRRT were randomly assigned in a 1:1:1 ratio to one of three treatment groups: continuous veno-venous hemodialysis Ca-free dialysate (CVVHD Ca-free) group, continuous veno-venous hemodiafiltration calcium-free dialysate (CVVHDF Ca-free) group, and continuous veno-venous hemodiafiltration Ca-containing dialysate (CVVHDF Ca-containing) group at cardiac intensive care unit (CICU). The primary endpoint was the incidence of metabolic complications. The secondary endpoints included premature termination of treatment, thrombus of filter, and bubble trap after the process.
RESULTS
The incidence of citrate accumulation (18.2% vs. 12.1% vs. 21.2%) and metabolic alkalosis (12.1% vs. 0% vs. 9.1%) did not significantly differ among three groups (p > 0.05 for both). The incidence of premature termination was comparable among the groups (18.2% vs. 9.1% vs. 9.1%, p = 0.582). The thrombus level of the filter and bubble trap was similar in the three groups (p > 0.05 for all).
CONCLUSIONS
In RCA-CRRT for CICU population, RCA-CVVHDF with Ca-containing solutions and traditional RCA with Ca-free solutions had a comparable safety and feasibility.
TRIAL REGISTRATION
ChiCTR2100048238 in the Chinese Clinical Trial Registry.
Topics: Humans; Female; Male; Continuous Renal Replacement Therapy; Middle Aged; Anticoagulants; Prospective Studies; Feasibility Studies; Citric Acid; Dialysis Solutions; Aged; China; Calcium; Acute Kidney Injury
PubMed: 38439685
DOI: 10.1111/sdi.13200 -
Ecotoxicology and Environmental Safety Mar 2024High alkaline environment can lead to respiratory alkalosis and ammonia toxification to freshwater fish. However, the Amur ide (Leuciscus waleckii), which inhabits an...
High alkaline environment can lead to respiratory alkalosis and ammonia toxification to freshwater fish. However, the Amur ide (Leuciscus waleckii), which inhabits an extremely alkaline lake in China with titratable alkalinity up to 53.57 mM (pH 9.6) has developed special physiological and molecular mechanisms to adapt to such an environment. Nevertheless, how the Amur ide can maintain acid-base balance and perform ammonia detoxification effectively remains unclear. Therefore, this study was designed to study the ammonia excretion rate (T), total nitrogen accumulation in blood and tissues, including identification, expression, and localization of ammonia-related transporters in gills of both the alkali and freshwater forms of the Amur ide. The results showed that the freshwater form Amur ide does not have a perfect ammonia excretion mechanism exposed to high-alkaline condition. Nevertheless, the alkali form of Amur ide was able to excrete ammonia better than freshwater from Amur ide, which was facilitated by the ionocytes transporters (Rhbg, Rhcg1, Na/H exchanger 2 (NHE2), and V-type H ATPase (VHA)) in the gills. Converting ammonia into urea served as an ammonia detoxication strategy to reduced endogenous ammonia accumulation under high-alkaline environment.
Topics: Animals; Ammonia; Lakes; Cypriniformes; Membrane Transport Proteins; Alkalies; Gills
PubMed: 38432157
DOI: 10.1016/j.ecoenv.2024.116160 -
European Archives of... Jul 2024To review possible risk factors for permanent delayed-onset, progressive sensorineural hearing loss (SNHL) in the paediatric population to recommend follow-up protocols...
PURPOSE
To review possible risk factors for permanent delayed-onset, progressive sensorineural hearing loss (SNHL) in the paediatric population to recommend follow-up protocols for early detection.
METHODS
PRISMA-compliant systematic review was performed, including observational studies on the paediatric population up to 16 years old who have passed the newborn hearing screening programme (NHSP), investigating the development of late-onset, progressive SNHL. Electronic searches were performed through Medline, Embase, Cochrane, and Emcare.
RESULTS
37 studies were included. 21 showed an association between late-onset SNHL and congenital cytomegalovirus (cCMV) infection (age at hearing loss diagnosis 0.75 to 204 months, mean 45.6 ± 43.9), while 16 between late-onset SNHL and other congenital or perinatal factors, namely Neonatal Intensive Care Unit (NICU) stay, prematurity, neonatal respiratory failure, mechanical ventilation, extracorporeal membrane oxygenation (ECMO) support, hypocapnia, hypoxia, alkalosis, seizure activity, congenital diaphragmatic hernia (CDH), inner ear malformation, and gene mutations (age at hearing loss diagnosis 2.5 to 156 months, mean 38.7 ± 40.7).
CONCLUSIONS
cCMV infection may cause late-onset SNHL, which can be missed on standard NHSP. There is, therefore, evidence to support universal screening programmes to enable detection in even asymptomatic neonates. Ongoing audiological follow-up for all children with cCMV is advisable, to enable timely treatment. In the paediatric population presenting conditions such as NICU stay > 5 days, prematurity ≤ 34 weeks gestation, severe neonatal respiratory failure, mechanical ventilation, ECMO support, and CDH surgery, an audiological follow-up from 3 months of age up to at least 3-4 years of age, and at least annually, should be recommended.
Topics: Adolescent; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Age of Onset; Cytomegalovirus Infections; Disease Progression; Hearing Loss, Sensorineural; Neonatal Screening; Risk Factors
PubMed: 38411671
DOI: 10.1007/s00405-024-08527-x