Renal tubular function in children and adolescents with Gitelnian's syndrome, the hypocalciuric variant of Bartter's syndrome

Renal tubular function was studied in 14 patients with Gitelman's syndrome and 14 control subjects. Apart from the biochemical hallmarks of Gitelman's syndrome, namely alkalaemia, hyperbi carbonataemia, hypokalaemia, hypomagnesaemia (with increased magnesium over creatinine ratio), increased urinary chloride over creatinine ratio, and low urinary calcium over creatinine, the patients were found to have hyperproteinaemia, hypochloraemia, high total plasma calcium concentration, reduced plasma ionized calcium concentration, and high urinary sodium excretion. A statistically significant negative linear relationship between plasma magnesium concentration and magnesium excretion corrected for glomerular filtration was observed in patients. The fractional calcium clearance and the urinary excretion of calcium corrected for glomerular filtration was significantly decreased in patients. In patients the urin ary osmolality after overnight water deprivation ranged from 526 to 1067 mmol/kg. Glucosuria and aminoacid uria were similar in patients and controls. The results of the study demonstrate the renal origin of hypomag nesaemia and hypocalciuria in Gitelman's syndrome. The failure to demonstrate hyperaminoaciduria, hyperglucosuria, hyperphosphaturia, hyperuricosuria, and severely impaired urinary concentrating ability provide evidence for a defect residing in the distal convoluted tubul

Hair-thread strangulation syndrome in childhood: a systematic review.

Hair-thread strangulation syndrome describes the constriction of a body part by a tightly wound hair or thread. This research aims to review the literature about this entity. A systematic review was performed to characterise hair-thread strangulation syndrome in subjects aged ≤16 years. This pre-registered review (PROSPERO ID: CRD42022363996) followed the PRISMA methodology. Subjects with digital strangulation were significantly younger (median = 4.0 [interquartile range: 2.0-6.1] months; n = 143) than females with genital strangulation (9.0 [6.8-11] years; n = 36), males with genital strangulation (5.1 [1.9-8.0] years; n = 36), and subjects with non-digital and non-genital strangulation (24 [13-48] months; n = 11). Digital strangulation was followed by an amputation in five (3.5%) and a reconstructive surgical intervention in seven (4.9%) cases. Sequelae occurred in four (11%) cases after female genital strangulation: clitoris autoamputation (n = 2) and surgical removal of a necrotic labium minus (n = 2). Severe complications were observed in 14 (39%) cases with male genital strangulation: urethral fistula (n = 7), urethral transection (n = 2), and partial penile autoamputation (n = 5). A partial uvular autoamputation was observed in one case (9.0%) with non-digital and non-genital strangulation. Early recognition and management are crucial to avoid sequelae or long-term care in hair-thread strangulation syndrome

Vitamin D status among male late adolescents living in Southern Switzerland: Role of body composition and lifestyle

BACKGROUND: Poor vitamin D status is a worldwide health problem. Yet, knowledge about vitamin D status among adolescents in Southern Europe is limited. This study investigated concentrations and modulating factors of vitamin D in a healthy population of male late adolescents living in Southern Switzerland. METHODS: All apparently healthy subjects attending for the medical evaluation before the compulsory military service in Southern Switzerland during 2014-2016 were eligible. Dark-skin subjects, subjects on vitamin D supplementation or managed with diseases or drugs involved in vitamin D metabolism were excluded. Anthropometric measurements (body height, weight, fat percentage, mid-upper arm and waist circumference) and blood sampling for total 25-hydroxy-vitamin D, total cholesterol and ferritin concentrations testing, were collected. Participants filled in a structured questionnaire addressing their lifestyle. Characteristics of the subjects with adequate ( 6550 nmol/L- 64250 nmol/L) and insufficient (<50 nmol/L) vitamin D values were compared by Kruskal-Wallis test or \u3c72 test. Odds ratios for 25-hydroxy-vitamin D insufficiency were calculated by univariate and AIC-selected multiple logistic regression models. RESULTS: A total of 1045 subjects volunteered to participate in the study. Insufficient concentrations of vitamin D were detected in 184 (17%). The season of measurement was the most significant factor associated with vitamin D levels and approximately 40% of subjects presented insufficient vitamin D concentrations in winter. After model selection, body fat percentage, frequency and site of recreational physical activity, and the seasonality were significantly associated with the risk of vitamin D insufficiency. CONCLUSIONS: Among healthy male late adolescents in Southern Switzerland, about one every fourth subject presents a poor vitamin D status in non-summer seasons. Body fat percentage, frequent and outdoor recreational physical activity are modulating factors of vitamin D status in this population

Valproic Acid-Associated Acute Pancreatitis: Systematic Literature Review.

Long-term medication with valproic acid has been associated with acute pancreatitis. The purpose of this report is to gain insight into the features of this pancreatitis. A preregistered literature search (CRD42023438294) was performed on the National Library of Medicine, Excerpta Medica, Web of Science, and Google Scholar. Patients with alcohol abuse disorder, gallstone disease, hypertriglyceridemia or hypercalcemia, patients with acute valproic acid intoxication, and patients with a pre-existing pancreatitis were excluded. For the final analysis, we retained 73 reports published between 1979 and 2023, which described 125 subjects (83 children and 42 adults predominantly affected by an epilepsy) with an acute pancreatitis related to valproic acid. The diagnosis was made 11 (3.0-24) months (median and interquartile range) after starting valproic acid. One hundred and five cases (84%) recovered and twenty (16%) died. Sex, age, dosage or circulating level of valproic acid, latency time, prevalence of intellectual disability, and antiepileptic co-medication were similar in cases with and without a lethal outcome. Nineteen subjects were rechallenged with valproic acid after recovery: sixteen (84%) cases developed a further episode of pancreatitis. In conclusion, pancreatitis associated with valproic acid presents at any time during treatment and has a high fatality rate

Liver chemistry in new-onset Henoch-Schönlein syndrome

Background: Henoch-Schonlein syndrome is a systemic small-vessel leukocytoclastic vasculitis that usually present with cutaneous, gastrointestinal, articular and renal manifestations. Little is known on liver involvement in this syndrome. This study investigated liver chemistry and creatine kinase in Henoch-Schonlein children. Case presentation: Alanine aminotransferase, aspartate aminotransferase, gamma-glutamyltransferase, lactate dehydrogenase, total bilirubin, prothrombin time and creatine kinase were assessed in 75 consecutive pediatric patients (41 boys and 34 girls aged from 2.9 to 17 years) with new-onset Henoch-Schonlein syndrome. Mildly altered values were found in 7 (9%) patients (5 boys and 2 girls aged from 3.3 to 17 years). In the mentioned cases, all tests returned to normal at a 2-4-week follow-up. Conclusions: This preliminary study points out that altered and self-remitting liver parameters occur in approximately 10% of children with Henoch-Schonlein syndrome

Which laboratory technique is used for the blood sodium analysis in clinical research? A systematic review.

Circulating sodium is analyzed by flame spectrometry and indirect or direct potentiometry. The differences between estimates returned by the three techniques are often relevant. It is unknown whether peer-reviewed international publications focusing on this parameter provide information about the technique. Objectives of the study were to ascertain if information about the employed technique is provided. A search in the National Library of Medicine for articles whose title contains "hyponatr[a]emia" was performed. We restricted the search to clinical reports including 10 or more humans published in the 2013-2015 and 2017-2019 periods. Authors of papers not reporting the technique were contacted to obtain this information. The study design and journal quartile ranking of each article were also evaluated. For the final analysis, we included 361 articles (2013-2015, n=169; 2017-2019, n=192). Information about the laboratory technique was given in 61(17%) articles. Thanks to our inquiry, we collected this information for 116(32%) further reports. Indirect potentiometry was the most frequently used technique, followed by direct potentiometry. Spectrometry was used in a small minority of studies. Study design, journal ranking and study period did not modulate the mentioned frequency. Most articles focusing on hyponatremia do not provide information on the laboratory technique. This parameter is nowadays analyzed by indirect or, less frequently, direct potentiometry. The figures are similar for high and low impact factor journals and for the 2013-2015 and the 2017-2019 periods. Many authors, reviewers and editors likely assume that the results of this parameter are not influenced by the technique

Atypical Bacterial Pathogens and Small-Vessel Leukocytoclastic Vasculitis of the Skin in Children: Systematic Literature Review.

Leukocytoclastic small-vessel vasculitis of the skin (with or without systemic involvement) is often preceded by infections such as common cold, tonsillopharyngitis, or otitis media. Our purpose was to document pediatric (≤18 years) cases preceded by a symptomatic disease caused by an atypical bacterial pathogen. We performed a literature search following the Preferred Reporting of Systematic Reviews and Meta-Analyses guidelines. We retained 19 reports including 22 cases (13 females and 9 males, 1.0 to 17, median 6.3 years of age) associated with a Mycoplasma pneumoniae infection. We did not find any case linked to Chlamydophila pneumoniae, Chlamydophila psittaci, Coxiella burnetii, Francisella tularensis, or Legionella pneumophila. Patients with a systemic vasculitis (N = 14) and with a skin-limited (N = 8) vasculitis did not significantly differ with respect to gender and age. The time to recovery was ≤12 weeks in all patients with this information. In conclusion, a cutaneous small-vessel vasculitis with or without systemic involvement may occur in childhood after an infection caused by the atypical bacterial pathogen Mycoplasma pneumoniae. The clinical picture and the course of cases preceded by recognized triggers and by this atypical pathogen are indistinguishable

Hoigné's syndrome, an uncommon mimicker of anaphylaxis: Systematic literature review.

The term Hoigné's syndrome denotes a mimicker of anaphylaxis, which occurs immediately after the parenteral administration of a drug and is likely caused by non-thrombotic pulmonary and systemic drug micro-embolization. It has so far been documented uniquely in case reports and small case series. Because this condition has never been systematically evaluated, we performed a structured literature review (pre-registered as CRD42023392962). The search was carried out in Excerpta Medica, National Library of Medicine, and Google Scholar. Cases with features consistent with anaphylaxis, urticaria, angioedema, asthma, syncope, anxiety, or panic attack triggered by needle phobia, and local anesthetic systemic toxicity were excluded. For the final analysis, we retained reports published between 1951 and 2021, which presented 247 patients with Hoigné's syndrome: 37 children and 211 adults with a male: female ratio of 2.1 : 1.0. The patients presented within 1 min after parenteral administration of a drug (intramuscular penicillin in 90 % of the cases) with chest discomfort, shortness of breath, fear of death, psychomotor agitation, and auditory or visual hallucinations and impairment. Recovery occurred within 30 min. The diagnosis of Hoigné's syndrome was also established in five patients 66-91 years of age with pre-existing cardiovascular or pulmonary diseases, who suddenly died after the administration of penicillin despite not exhibiting the aforementioned symptoms. It was therefore speculated that pulmonary drug micro-embolization induced a lethal cardiovascular compromise in these individuals. Histologic investigations supporting this hypothesis were performed in only one case. The diagnosis of Hoigné's pulmonary drug micro-embolization was established also in five patients with pre-existing cardiovascular or pulmonary diseases, who suddenly died after the administration of penicillin despite not exhibiting the afore mentioned symptoms. Histologic investigations supporting this hypothesis were performed in only one case. In conclusion, Hoigné's syndrome is an uncommon non-immune-mediated reaction. This report seeks to promote broader awareness and knowledge regarding this alarming mimicker of anaphylaxis. Diagnosis relies solely on clinical evaluation