San Martino dall'Argine, Italy
San Martino dall'Argine, Italy

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Fainardi V.,Paediatrics Unit | Cabassi A.,Cardiorenal Research Unit | Carano N.,Paediatrics Unit | Rocco R.,Cardiorenal Research Unit | And 4 more authors.
Acta Biomedica | Year: 2014

Background Severe hypokalemia, defined as serum potassium < 2.5 mEq/L, may lead to neuromuscular, gastrointestinal, and ECG abnormalities. Neuromuscular consequences of hypokalemia include weakness, cramps, rarely paralysis, eventually progressing to rhabdomyolysis. Case presentation We report a case of a 4-year- old girl presenting carpopedal spasm and rhabdomyolysis due to severe hypokalemia associated to hypophosphatemia and hypovolemia. At one month of age she underwent an ileal resection because of a neonatal necrotizing enterocolitis, and a bowel resection at two years of age, because of sub-occlusive episodes. The child had frequent episodes of diarrhoea and was treated with oral white clay (kaolin) and a restrictive diet. Three days prior the admission to the hospital she had numerous episodes of watery diarrhoea. Laboratory tests revealed severe hypokalemia, hypophosphatemia, normal calcium levels associated with marked dehydration. An ECG demonstrated sinus bradycardia, ST-segment depression, T-wave flattening, U-wave, and long-QTc. Symmetric carpal and pedal spasms were observed. A marked rise of creatinine phosphokinase and myoglobin associated to cola colored urine was observed. Intravenous supplementation of potassium phosphate as well as adequate volume repletion led to an improvement of the clinical condition, to the disappearance of carpal and pedal spasms, to normalisation of ECG. Conclusions Careful electrolytes and volume supplementation led to the correction of potential life-threatening arrhythmias and obtained a complete recovery from carpopedal spasm and rhabdomyolysis. Dietary restriction and pharmacological preparations as kaolin have to be administered with caution to treat diarrhea in children and particularly in those who may present other pre-existing risk factors. © Mattioli 1885.


Babar M.I.,Sheikh Zayed Medical College | Ahmad I.,Sheikh Zayed Medical College | Rao M.S.,Sheikh Zayed Medical College | Iqbal R.,Paediatrics Unit | And 2 more authors.
Journal of the College of Physicians and Surgeons Pakistan | Year: 2011

Objective: To determine the frequency of clinical features of Celiac disease (CD) and Celiac crisis in children. Study Design: Case series. Place and Duration of Study: Paediatrics Unit, Sheikh Zayed Medical College and Hospital, Rahim Yar Khan, from September 2009 to September 2010. Methodology: Forty children aged between 4 to 13 years of either gender, presenting with complaints of recurrent diarrhea, abdominal distention, severe emaciation and dehydration were included. The information about breast feeding, weaning diets, age of introduction of wheat diets, onset of diarrhea, characteristics and frequency of stools, growth, vaccination status, symptoms in 1st degree relatives, restriction of Gluten diet in the past and anthropometric measures were recorded. Serological tests against anti-Tissue Transglultaminase (anti-tTG) antibodies were obtained in all cases. Upper gastrointestinal endoscopies were performed and multiple biopsies were taken from distal parts of duodenum. Results: Among the forty children, twenty four (60%) were females and 16 were males (40%). The mean age was 6.35 ± 2.83 years. Thirty five (87.5%) parents were cousins. Breast feeding was not exclusively given and the Gluten containing weaning diets were given as early as 3.5 months of age. Thirty (75%) children presented with typical sign and symptoms of CD. Celiac crisis presented with profuse diarrhea, severe dehydration; abdominal distention; pedal edema, carpopedal spasm due to tetany; wasted muscles; head drop and inability to stand. The serum TtG antibodies in thirty-eight cases (95%) were above the cut off level of 7u/ml ranging from 35-99 u/ml. The histopathology of specimens from distal duodenum revealed lesions of M3 type in thirteen (32.5%) and M2 type in eighteen cases (45%). All cases recovered and improved on follow-up after strict adherence to gluten-free diet (GFD). Conclusion: Majority of children with Celiac disease presented with typical symptom, while Celiac crisis was characterized by severe dehydration, weakness and calcium deficiency signs. Most were the product of consanguineous marriages and were given Gluten - containing weaning foods as early as the 4th month of life. © 2011. College of Physicians & Surgeons Pakistan.


Veldhuijzen Van Zanten S.E.M.,VU University Amsterdam | Van Meerwijk C.L.L.I.,VU University Amsterdam | Jansen M.H.A.,VU University Amsterdam | Twisk J.W.R.,VU University Amsterdam | And 10 more authors.
Neuro-Oncology | Year: 2016

Background. More than 90% of patients with diffuse intrinsic pontine glioma (DIPG) will die within 2 years of diagnosis. Patients deteriorate rapidly during the disease course, which severely impairs their quality of life. To date, no specific research on this clinically important subject has been conducted. This study aimed to compile an inventory of symptoms experienced, interventions applied, and current service provision in end-of-life care for DIPG. Methods. We performed a retrospective cohort study of children with DIPG, aged 0-18 years, who received treatment under the care of 2 London hospitals. Symptoms, interventions, and services applied during the 12 weeks before death were analyzed. In addition, we conducted a global questionnaire-study among health care professionals. Results. In more than 78% of DIPG patients, problems concerning mobility, swallowing, communication, consciousness, and breathing arose during end-stage disease. Supportive drugs were widely prescribed. The use of medical aids was only documented in <15% of patients. Palliative and end-of-life care was mostly based on the health care professional's experience; only 21% of the questionnaire respondents reported to have a disease-specific palliative care guideline available. Conclusions. This research assessed the current state of palliative and end-of-life care for children with DIPG. Our results show the variability and complexity of symptoms at end-stage disease and the current lack of disease-specific guidelines for this vulnerable group of patients. This first descriptive paper is intended to act as a solid basis for developing an international clinical trial and subsequent guideline to support high-quality palliative and end-of-life care. © The Author(s) 2015. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved.


Resta N.,University of Bari | Memo L.,Paediatrics Unit
Journal of Maternal-Fetal and Neonatal Medicine | Year: 2012

Background: Birth defects are very common, affecting two to three infants in every 100 births, and often represent a diagnostic and management challenge. The birth of a child with multiple malformations is the beginning of a complex diagnostic process, where the primary purpose is to determine a precise nosological definition. An accurate diagnosis is a key prerequisite in providing a care plan, a prognosis and genetic counselling. The poor specificity of birth defects, the aetiology and course of which can vary despite similar phenotypic patterns, often makes the diagnostic path problematic. The advent and application of high-resolution chromosomal microarray, encompassing array-based comparative genome hybridization and single-nucleotide polymorphism arrays, has led to the detection of genomic copy-number abnormalities in patients affected by multiple congenital anomalies, dysmorphisms, developmental delay and mental retardation, but who have a normal karyotype. Aim: We discuss current guidelines and recommendations for chromosomal microarray use and how its application can help clinicians make accurate diagnoses in order to appropriately manage and treat affected newborns. Conclusions: Current guidelines strongly support the application of chromosomal microarray analysis as a first-tier cytogenetic diagnostic test alternative to karyotyping for patients with multiple congenital anomalies, or developmental delay, intellectual disability and autism spectrum disorders. © 2012 Informa UK, Ltd.


Faienza M.F.,University of Bari | Delvecchio M.,Paediatrics Unit | Giordano P.,University of Bari | Cavallo L.,University of Bari | And 3 more authors.
Endocrine | Year: 2015

A significant number of long-term complications have been described in childhood leukemia survivors. In particular, these patients may present features of metabolic syndrome (MetS), and therefore increased risk for cardiovascular diseases. The aim of this meta-analysis is to evaluate the prevalence and the risk of MetS in survivors of childhood leukemia. Two authors independently performed a systematic literature search in PubMed and EMBASE to March 2014, reviewed and selected articles, based on pre-determined selection criteria. Twelve articles, comprising 2,337 participants (1,462 cases and 875 controls), were included in the meta-analysis. Only three of them were case–control studies eligible for the meta-analysis. The childhood leukemia survivors showed an increased risk of MetS as compared to healthy controls (OR = 4.36; 95 % CI 1.19–16.22). The risk was significantly increased only in patients treated with chemotherapy and radiotherapy (OR = 7.79; 95 % CI 1.27–47.77), and not in patients treated with only chemotherapy (OR = 2.35; 95 % CI 0.40–13.78). Childhood leukemia survivors, in particular if treated also with radiotherapy, are prone to develop MetS more than healthy controls. Monitoring of MetS components in these patients is necessary to avoid cardiovascular consequences later in life. © 2014, Springer Science+Business Media New York.

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