scholarly journals Hyponatremia in Children and Adults with Prader–Willi Syndrome: A Survey Involving Seven Countries

2021 ◽  
Vol 10 (16) ◽  
pp. 3555
Author(s):  
Muriel Coupaye ◽  
Karlijn Pellikaan ◽  
Anthony P. Goldstone ◽  
Antonino Crinò ◽  
Graziano Grugni ◽  
...  

In Prader–Willi syndrome (PWS), conditions that are associated with hyponatremia are common, such as excessive fluid intake (EFI), desmopressin use and syndrome of inappropriate antidiuretic hormone (SIADH) caused by psychotropic medication. However, the prevalence of hyponatremia in PWS has rarely been reported. Our aim was to describe the prevalence and severity of hyponatremia in PWS. In October 2020, we performed a retrospective study based on the medical records of a large cohort of children and adults with PWS from seven countries. Among 1326 patients (68% adults), 34 (2.6%) had at least one episode of mild or moderate hyponatremia (125 ≤ Na < 135 mmol/L). The causes of non-severe hyponatremia were often multi-factorial, including psychotropic medication in 32%, EFI in 24% and hyperglycemia in 12%. No obvious cause was found in 29%. Seven (0.5%) adults experienced severe hyponatremia (Na < 125 mmol/L). Among these, five recovered completely, but two died. The causes of severe hyponatremia were desmopressin treatment for nocturnal enuresis (n = 2), EFI (n = 2), adrenal insufficiency (n = 1), diuretic treatment (n = 1) and unknown (n = 1). In conclusion, severe hyponatremia was very rare but potentially fatal in PWS. Desmopressin treatment for nocturnal enuresis should be avoided. Enquiring about EFI and monitoring serum sodium should be included in the routine follow-ups of patients with PWS.

VASA ◽  
2017 ◽  
Vol 46 (6) ◽  
pp. 477-483
Author(s):  
Robert Karl Clemens ◽  
Frederic Baumann ◽  
Marc Husmann ◽  
Thomas Oleg Meier ◽  
Christoph Thalhammer ◽  
...  

Abstract. Background: Congenital venous malformations are frequently treated with sclerotherapy. Primary treatment goal is to control the often size-related symptoms. Functional impairment and aesthetical aspects as well as satisfaction have rarely been evaluated. Patients and methods: Medical records of patients who underwent sclerotherapy of spongiform venous malformations were reviewed and included in this retrospective study. The outcome of sclerotherapy as self-reported by patients was assessed in a 21 item questionnaire. Results: Questionnaires were sent to 166 patients with a total of 327 procedures. Seventy-seven patients (48 %) with a total of 159 procedures (50 %) responded to the survey. Fifty-seven percent of patients were male. The age ranged from 1 to 38.1 years with a median age of 16.4 years. The lower extremities were the most common treated area. Limitations caused by the venous malformation improved in the majority of patients (e.g. pain improvement 87 %, improvement of swelling 83 %) but also worsening of symptoms occurred in a minority of cases. Seventy-seven per cent would undergo sclerotherapy again. Conclusions: Sclerotherapy for treatment of venous malformations results in significant reduction of symptoms. Multiple treatments are often needed, but patients are willing to undergo them.


2019 ◽  
Author(s):  
Anna Rosenberg ◽  
Karlijn Pellikaan ◽  
Kirsten Davidse ◽  
Stephany Donze ◽  
Anita Hokken-Koelega ◽  
...  

Author(s):  
Giulia Carosi ◽  
Valentina Morelli ◽  
Sindaco Giulia Del ◽  
Arianna Cremaschi ◽  
Sofia Frigerio ◽  
...  

2005 ◽  
Vol 39 (6) ◽  
pp. 474-478 ◽  
Author(s):  
Tryggve Nevéus ◽  
Eva Johansson ◽  
Kerstin Nydahl-Persson ◽  
Hans Peterson ◽  
Sverker Hansson

Author(s):  
Maura Harkin ◽  
Peter N. Johnson ◽  
Stephen B. Neely ◽  
Lauren White ◽  
Jamie L. Miller

Objective Although thiazide diuretics are commonly used in the neonatal intensive care unit (NICU), the risk of thiazide-induced hyponatremia in infants has not been well documented. The primary objective of this study was to determine the frequency and severity of hyponatremia in neonates and infants receiving enteral chlorothiazide. Secondary objectives included identifying: (1) percent change in serum sodium from before chlorothiazide initiation to nadir, (2) time to reach nadir serum sodium concentration, and (3) percentage of patients on chlorothiazide receiving sodium supplementation. Study Design This was a retrospective cohort study of NICU patients admitted between July 1, 2014 and July 31, 2019 who received ≥1 dose of enteral chlorothiazide. Mild, moderate, and severe hyponatremia were defined as serum sodium of 130 to 134 mEq/L, 120 to 129 mEq/L, and less than 120 mEq/L, respectively. Data including serum electrolytes, chlorothiazide dosing, and sodium supplementation were collected for the first 2 weeks of therapy. Descriptive and inferential statistics were performed in SAS software, Version 9.4. Results One hundred and seven patients, receiving 127 chlorothiazide courses, were included. The median gestational age at birth and postmenstrual age at initiation were 26.0 and 35.9 weeks, respectively. The overall frequency of hyponatremia was 35.4% (45/127 courses). Mild, moderate, and severe hyponatremia were reported in 27 (21.3%), 16 (12.6%), and 2 (1.6%) courses. The median percent decrease in serum sodium from baseline to nadir was 2.9%, and the median time to nadir sodium was 5 days. Enteral sodium supplements were administered in 52 (40.9%) courses. Sixteen courses (12.6%) were discontinued within the first 14 days of therapy due to hyponatremia. Conclusion Hyponatremia occurred in over 35% of courses of enteral chlorothiazide in neonates and infants. Given the high frequency of hyponatremia, serum sodium should be monitored closely in infants receiving chlorothiazide. Providers should consider early initiation of sodium supplements if warranted. Key Points


2019 ◽  
Vol 18 (1) ◽  
pp. 14-16
Author(s):  
Diego Veiga Bezerra ◽  
Luis Eduardo Munhoz da Rocha ◽  
Dulce Helena Grimm ◽  
Carlos Abreu de Aguiar ◽  
Luiz Müller Ávila ◽  
...  

ABSTRACT Objective: To evaluate the healing of the modified inverted “Y” incision in patients with scoliosis due to myelomeningocele. Methods: Retrospective study through medical records review of patients with myelomeningocele surgically treated with a modified inverted “Y” approach between January 2013 and December 2015. Results: We analyzed the medical records of six patients. Two patients progressed with skin complications in the immediate postoperative period and only one of them required surgical intervention for debridement and suturing. In another patient, it was necessary to perform two surgical reviews due to material failure without skin complications in these interventions. Conclusions: The modified inverted “Y” technique is a great alternative to traditional incision and inverted “Y” because it has good results in patients with spina bifida associated with poor skin conditions treated surgically for correction of spinal deformities. Level of Evidence IV; Case series.


2001 ◽  
Vol 115 (2) ◽  
pp. 112-118 ◽  
Author(s):  
A. Escribano Uzcudun ◽  
P. Bravo Fernández ◽  
J. J. Sánchez ◽  
A. García Grande ◽  
I. Rabanal Retolaza ◽  
...  

Pharyngeal cancer still presents an unsatisfactory mortality (30-40 per cent in most series, with a slightly better prognosis for nasopharyngeal cancer relative to both oropharyngeal and hypophyarngeal cancers) despite advances in treatment. Therefore, it is critical to know the clinical features of pharyngeal cancer. The purpose of this study was to investigate the most relevant clinical features of pharyngeal cancer (oropharyngeal, hypopharyngeal, and nasopharyngeal) in order to improve knowledge of this malignancy with the aim of ameliorating diagnosis and treatment.The retrospective study was based on a review of medical records from 258 consecutive patients with pharyngeal cancer (oropharyngeal, hypopharyngeal and nasopharyngeal) diagnosed at La Paz University Hospital, Madrid, Spain, between January 1 1991 and and December 31 1995. Medical records were provided by the Departments of Otorhinolaryngology, Head and Neck Surgery, Radiation Oncology, and Medical Oncology.All medical records were analysed for the following clinical variables: 1) incidence, 2) sociodemographics, 3) sites (oropharynx, hypopharynx, nasopharynx) and subsites, 4) clinical and histological staging, 5) pathlogy, 6) presenting symptoms, 7) time to diagnosis, 8) patients’ general performance status at diagnosis, 9) personal cancer history and synchronous head and neck tumours, 10) premalignant lesions, and 11) paediatric cases.Our most outstanding finding was the excessively long time that elapsed between first clinical manifestation appearance and conclusive diagnosis of pharyngeal cancer (4.7 months for pharynx, 4.5 for oropharynx, 4.4 for hypopharynx and 6.5 for nasopharynx cancers). It was found that nasopharyngeal cancer was quite different from both oropharyngeal and hypopharyngeal cancers with respect to its potential aetiology, risk factors and clinical presentation. In addition it has a better prognosis.


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