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Introduction: Lupus anticoagulant (LAC) belongs to a heterogeneous group of antibodies directed against negatively charged phospholipid-binding proteins, inhibiting phospholipid-dependent reactions. We assessed the frequency, etiological background, clinical and biological expression as well as the appropriate management and outcome of LAC in a pediatric population.

Background: Slipped capital femoral epiphysis (SCFE) is the most common hip disease during infancy and adolescence. Our study aimed to analyze static plantar pressure in children with surgically treated unilateral SCFE. Methods: Twenty-two children with right SCFE with in situ fixation with one percutaneous screw were assessed by PoData plantar pressure analysis under three different conditions (open eyes, eyes closed, and head retroflexed). Results: The total foot loading was significantly higher on the unaffected limb compared with the affected one for all the three testing conditions (p < 0.05). When assessing the differences between testing conditions, there were no significant differences for the right and left foot loadings, or for the three sites of weight distribution, except for the right fifth metatarsal head (lower loading in eyes-closed condition in comparison to eyes open, p = 0.0068), left fifth metatarsal head (increased loading in head-retroflexed condition in comparison to eyes open, p = 0.0209), and left heel (lower loading in head-retroflexed condition in comparison to eyes open, p = 0.0293). Conclusion: Even after a successful surgical procedure, differences in foot loading can impact the postural static activities in different conditions (natural eyes-open, eyes-closed, or head-retroflexed posture). [ABSTRACT FROM AUTHOR]

Oral rehydration is the main treatment of acute diarrhea in children. This study was undertaken to evaluate the efficacy and safety of xyloglucan and gelose (agar-agar) plus oral rehydration solution (ORS) compared with placebo and ORS for reduction of acute diarrhea symptoms in children. In a randomized, double-blind, placebo-controlled trial, children with acute gastroenteritis received xyloglucan/gelose plus ORS (n = 50) or placebo plus ORS (n = 50) for 5 days. Demographic, clinical, anthropometric and laboratory parameters were recorded and analyzed. Xyloglucan/gelose plus ORS reduced the total number of type 7 and 6 stools on the Bristol Stool Form scale (p = 0.040 and p = 0.015, respectively, compared to placebo plus ORS), and had a rapid onset of action, evident 6 hours post-treatment. Xyloglucan/gelose plus ORS also improved associated clinical symptoms (apathy, vomiting, flatulence, and blood in stool). compared with placebo plus ORS. Except for a generalized rash of unknown causality in a patient receiving placebo plus ORS, all other adverse events (dehydration, n = 7, cough, n = 1, exacerbation of vomiting, n = 1) were deemed unrelated to study medication. Xyloglucan/gelose plus ORS was effective and safe in treating acute diarrhea in children. [ABSTRACT FROM AUTHOR]

Gabriela, 8 years old, was admitted in the 1st Pediatric Clinic, Timisoara for the evaluation of cholestasis syndrome. She was known with hypotonic cerebral palsy, epilepsy with polymorphic seizures partial controlled by anticonvulsants and 5 atraumatic leg fractures occurred in the last 3 years. At admission, she had pale skin, absent subcutaneous tissue and muscle atrophy with muscle atrophy. She had splint cast in the left lower limb and pseudoarthrosis in the 1/3 distal of the right leg. The biological investigations revealed normal liver enzymes except alkaline phosphatase, an abnormal coagulation and bone markers and the presence of starch and fiber in the stool, while the other tests were normal. The radiography of extremities showed osteolysis injuries and old left clavicle, upper third diaphysis of left humerus and femur and lower third diaphysis of right tibia fractures, with vicious callus secondary to Osteogenesis Imperfecta. We considered that all these fractures were manifestations of osteoporosis secondary to malabsorption syndrome, malnutrition, vitamin D and K deficiencies, chronic anticonvulsant therapy and Osteogenesis Imperfecta. The evolution was favorable under treated with calcium gluconate, vitamin D and K with the reduction of alkaline phosphatase and normalization of coagulation. The initiation of bisphosphonate therapy was taken into account. Case particularity: The association of osteoporosis and Osteogenesis Imperfecta responsible for the production of fractures in a patient with cerebral palsy and epilepsy. [ABSTRACT FROM AUTHOR]

Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract and retinal detachment. It can also cause hearing loss that is both conductive and sensorineural. Under-development of the middle part of face, ogival palate, spondylo-epiphyseal dysplasia and/or precocious arthritis can also occur. The authors present the case of a 7 months old infant with failure to thrive associated to a particular phenotype; facial dysmorphism and congenital cataract, who was referred for admission presenting an upper respiratory tract infection. Corroborating the clinical examination with the paraclinical evaluation and genetic assessment, including the karyotype, the authors established in this case the diagnosis of Stickler syndrome. [ABSTRACT FROM AUTHOR]

Introduction: Common causes of goiter in children include autoimmune disease and iodine deficiency. Purpose: The current study aims to frame goiter according to etiology in the pediatric population. Methods: A retrospective study was conducted over a period of 1 year and 6 months (January 2013-August 2014) in the Emergency Hospital for Children "Louis Țurcanu" Timisoara. The study group included a total of 36 patients aged between 4 to 18 years with a mean age of 12.3 years. Thyroid volume (Vt) was determined by ultrasound measurements and the diagnosis of goiter was established based on Vt> 97th percentile using diagrams adapted for age, gender. Results and Discussion: We found a high prevalence of Hashimoto thyroiditis, 21 patients (representing 58.33% of total). Of these, 14 patients (66.7%) associated type 1 diabetes, thyroiditis being the second autoimmune disease. Basedow's disease was diagnosed in 2 patients (5.55%), and one showed a solitary thyroid nodule. The other 14 patients (38.9%) with goiter had negative serology for autoimmunity, thus being labeled as diffuse nonimune goiter. The mean age of these patients was 12.2 years with the limits 4.9-18 years, 75% of whom were girls. All patients from this category had euthyroid; most (62%) came from Timisoara. In 5 patients (38%) coming from endemic areas, thyroglobulin was determined. All patients had normal levels of thyroglobulin and iodine deficiency could not be demonstrated. Urine iodine was not determined in the patients included in the present study. Conclusions: The autoimmune pathology is the most common cause of goiter in children. Nonimmune diffuse goiter was found at pubertal age, mostly in girls. Children with goiter, regardless of its etiology, require treatment with thyroxine during puberty even if they are euthyroid. Studies are needed on urine iodine in the West of Romania in the pediatric population. [ABSTRACT FROM AUTHOR]

A 7 year old patient known from his medical history with visual impairment from the age 2 years and 6 months, which have progressed once the child began school. Careful examination revealed the presence of a tumor formation with selar location, which proved to be craniopharyngioma. Postoperative evolution was relatively good, but a redoubtable complication appeared, namely diencephalic obesity. [ABSTRACT FROM AUTHOR]

Introduction. Sleep apnea (SA) in children is underdiagnosed. Compromising somatic development and alterated quality of life are frequently present. Central sleep apnea (CSA) may be the cause of convulsive episodes in sleep or could be their result. Polysomnography is the gold-standard of SA objective assessment. Material and methods. We present a 7-year-old boy hospitalized in September 2013 for choking episodes occurred during sleep. The assessment was made by history, clinical examination, laboratory investigations (functional, imaging, biological) and interdisciplinary checkups. Results. Repeated respiratory tract infection and a history of about 20 days of episodes of choking were established by anamnesis. Were diagnosed: underweight status; chronic rhinitis; tonsillar hypertrophy; obstructive ventilatory dysfunction; mixed sleep apnea with predominant central component; atopic status; convulsions. Imaging explorations revealed normal aspects. Complex hygienic-dietary and medical treatment has led to the disappearance of respiratory disorders during sleep, with normalization of spirometric parameters and nutritional status. Conclusions. Polygraphic sleep study identified sleep apnea, indicating the predominance of the central component and facilitating etiologic diagnosis. Interdisciplinary management led to favorable evolution of the case. [ABSTRACT FROM AUTHOR]

Background: Autoimmune thyroiditis is the most frequent thyroid disorder in pediatric age, especially in females and puberty. Aim: The authors wanted to present the case of an adolescent girl diagnosed with autoimmune thyroiditis, describing all the difficulty encountered in the management of this pathology. Case presentation: We reported the case of 11 years old girl adolescent who was presented in 2011 into the Department of Endocrinology of " Louis Turcanu" Children Emergency Hospital, Timisoara for a tumor localized in the anterior neck. Her psychical examination revealed a well-developed adolescent, with enlarged and non-tender thyroid gland (stage II). Her laboratory assessment revealed thyroid-stimulating hormone level elevated and free thyroxine level suppressed with anti-thyroid peroxidase antibody and anti-thyroglobulin antibody increased. The patient was diagnosed with autoimmune thyroiditis with hypothyroidism and goiter and she initiated thyroid hormone replacement therapy at a dose of 25 μg/day. She remained euthyroid on a stable dose of Euthyrox without recurrences and normal growth and sexual development. In January 2013, the clinical examination was normal except the presence of dysphonia and an increased goiter. All the thyroid parameters were modified while the thyroid ultrasound identified multiples hypoechogenities in both thyroid lobes. The results of MRI and scintigraphy evaluations described a thyroid gland with increased size and decreased function, characteristic to the Hashimoto's thyroiditis. The cause of this thyroid dysfunction was the inappropriate administration of the hormonal treatment (at 12 o'clock, postprandial). Conclusions: The hormonal replacement therapy of hypothyroidism associated with autoimmune thyroid is permanent and should be monitoring although involve adolescents. The poor compliance to the hormone substitution is an important cause of treatment failure. [ABSTRACT FROM AUTHOR]

Objectives: To emphasize the negative role of chronic kidney disease in impaired growth and development of a female 7 year old patient, with chronic renal failure associating sexual developmental disorder - adrenogenital syndrome. Methods: The patient came to monthly follow-ups for the evaluation of her the anthropometric, nutritional and biological status. She was treated with a replacement therapy comprising of growth hormones and cortisone. Results: The girl was diagnosed at birth with polycystic kidney disease and sexual development disorder, karyotype 46XX - adrenogenital syndrome, salt-losing form. Cortisone replacement therapy was initiated in the neonatal period, under hormonal monitoring. At the age of 4 she had a creatinine clearance (Schwartz formula) of 17 ml/min/m2, height: H2009 = 83 cm, weight: W2009 = 8 kg and the therapy with growth hormones was initiated. In the following years, the increase in height was 12 cm and in weight 3 kg (H2010 = 95 cm, W2010 = 11 kg), while requiring the initiation of peritoneal dialysis. Currently, H2013 is 104 cm and W2013 is 13 kg. Conclusions: Progression of chronic kidney disease causes retardation of growth and development by: inadequate production of erythropoietin with secondary anemia, bone and mineral disease secondary to renal dysfunction, chronic metabolic acidosis and disruption of the hypothalamic-pituitary growth hormone axis. Adrenogenital syndrome association is an additional factor for impaired growth and development. [ABSTRACT FROM AUTHOR]

Objectives: We highlight the role of echography in the follow-up of an 8 year old girl with neurogenic bladder, right megaureter due to reflux; left obstructive megaureter, and impaired renal function. Methods: The patient came quarterly to follow-up, to evaluate renal function and possible infections, while the hydronephrosis was evaluated by echography. She had intermittent vesical catheterization and antibiotic prophylaxis. Results: The girl was diagnosed at 3 months of age with complex renal malformation, one month later she underwent bilateral cutaneous ureterostomy. Ureteral reimplantation surgery was performed at the age of 1 year and 6 months. At age 6, abdominal echography revealed bilateral hidronephrosis grade IV, which was sustained by uroMRI and stage 2 renal failure shown by renal function tests. Intermittent vesical catheterization 4 times/day and antibiotic prophylaxis were initiated. The echographic follow-up reported that the reflux remained mostly unchanged: left kidney had hydronephosis grade III, and the right kidney presented hydronephosis grade III/IV. Nevertheless the parenchymatous index increased, which correlates with the improved renal function, from stage 2 renal failure (moderate reduction in glomerular filtration rate=58mL/min/1.73m2) to normal glomerular filtration rate. The blood urea nitrogen and creatinine levels slightly decreased. The urinary tract infection rate remained low. Conclusions: Long-term intermittent catheterization as method of treatment and prevention is associated with stable reflux status, renal function, and infection rate, which in the end result in better quality of life for the patient. Echographic method of follow-up is reliable for medical examinations since it is informative, harmless and economical. [ABSTRACT FROM AUTHOR]

Background: Various studies have described fecal markers as powerful markers of inflammation of the intestinal mucosa in patients with inflammatory bowel disease (IBD). Calprotectin is a calcium-binding protein found in abundance in neutrophils, where it accounts for 60% of the protein in the cytosol. Aim: Several studies have compared fecal calprotectin with activity indexes and/or endoscopic/histological evaluation to confirm intestinal inflammation in IBD patients. This study proposed to assess the acuraccy of fecal excretion biomarker calprotectin in children with chronic gastrointestinal manifestations. The objective was to assess calprotectin as indicator of IBD activity using a commercial rapid semi-quantitative test (Cal Detect). Material and methods: 82 children (aged 18 months -18 years), presenting at least one of the following symptoms: diarrhea, rectal bleeding, recurrent abdominal pain, weight loss, constipation or alternative bowel habits were clinical and biological examined. Stool samples were collected from all of them and tested for calprotectin using a commercially available kit. In parallel, all patients were referred to colonoscopy. Results: 14 children were diagnosed with IBD (9 associating Crohn's disease - CD and 5 ulcerative colitis - UC). The remaining of 68 children formed the control lot, and their diagnoses included: chronic constipation, rectal and/or sigmoydian polyps, eosinophylic proctitis associated with cow's milk protein allergy or irritable bowel syndrome. The overall specificity (Sp) for IBD was 66% for a positive cut off point of 15 μg/g, and became 100% when raising the positive cut off point to 60μg/g (p= 0.0003). Conclusions: Raised fecal calprotectin more than 15 μg/g should prompt endoscopic assessment in children with chronic intestinal symptoms, since an organic bowel disorder is likely. Being an invasive method, colonoscopy can be avoided in children with gastrointestinal symptoms and low positive levels of fecal calprotectin between 0 and 15 μg/g. Fecal calprotectin detected by this rapid semi-quantitative test represents a sensitive and specific marker for detection of intestinal inflammation in children with CD and UC at a positive cut off point of 60 μg/g. [ABSTRACT FROM AUTHOR]

Background: An accurate monitoring of mucosal inflammation is important for an effective management of children with inflammatory bowel disease (IBD). The aim of the study was to evaluate the efficacy of the fecal calprotectin as indicator of inflammatory activity in children with Crohn's disease (CD) and ulcerative colitis (UC) by correlating it with biological, clinical and endoscopic indices. Methods: A total of 22 children presenting IBD were evaluated (16CD/6UC). Fecal calprotectin, blood tests, Pediatric CD Activity Index (PCDAI), Pediatric UC Activity Index (PUCAI), CD Endoscopic Index of Severity (CDEIS) and Mayo Disease Activity Index (MDAI) were used for children evaluation at diagnosis and after 6 months of treatment. Results: In CD children, calprotectin showed a high correlation (r = 0.775) with the histologic grade of mucosal inflammation, showed by CDEIS and a medium correlation with CRP(r = 0.623). lt didn't correlated with PCDAI (r = 0.325). In UC children, calprotectin correlated moderate (r=0.581) with CRP and it was strongly correlated with PUCAI (r = 0.752) and MDAI (r = 0.796). Calprotectin levels decreased significantly after 6 months of treatment in all IBD patients (p = 0.038). Conclusions: In CD children fecal calprotectin was more accurate in detection of active mucosal inflammation when compared to clinical score and serum marker CRP. The relatively poor correlation between calprotectin levels and PCDAI might not be due to a calprotectin low sensitivity in CD children, but to the fact that PCDAI is mostly a clinical score and is not sensitive enough to detect subclinical activity of the disease. Fecal calprotectin correlated well with endoscopic indices both in CD and UC children. So, it can provide a reliable noninvasive marker for monitoring IBD activity. [ABSTRACT FROM AUTHOR]

Introduction: Chronic diarrhea is a frequent condition in pediatric gastroenterology practice. The causes are multiple and the delay in reaching the final diagnosis can lead to complications. VIPomas are rare neuroendocrine tumors that synthesize vasoactive intestinal peptide (VIP). Watery diarrhea, hypokalemia and achlorhydria (WDHA) is associated with VIP-secreting neurogenic tumors involving the retroperitoneum or mediastinum in children. The aim of this work was to present the clinical and histo-genetic aspects of this rare entity. Material and Methods: The authors present an infant with chronic diarrhea, hypokalemia and metabolic acidosis secondary to a retroperitoneal VIPoma, with an initial diagnosis of cow's milk protein allergy non-responsive to elemental diet. Results: Laboratory findings showed excessive production of VIP. After surgical resection of the tumor, diarrhea subsided. Immunohistochemical examination confirmed the diagnosis of N-MYC negative ganglioneuroblastoma. Conclusions: The pediatricians should be informed that there might be some under-diagnosed tumoral causes of chronic diarrhea in infants. If the tumoral diagnosis is delayed and extensive gastrointestinal investigations are undertaken, avoidable complications may appear. [ABSTRACT FROM AUTHOR]

Introduction: Celiac disease is a complex disorder that by affecting the absorption process affects other systems. Endocrine disorders associated with celiac disease are a real problem, unfortunately insufficient studied in children. Material and Method: For a 2-year period, 2015-2017, we followed patients with celiac disease that who associate endocrine disorders. The study protocol included rigorous anamnesis, clinical assessment, quantification of auxological data (real height compared to height for age, real weight compared to weight of height, body mass index according with gender and age, abdominal circumference). Biological investigations aimed to confirm Celiac Disease (according to the ESPGHAN guidelines) and endocrine investigations related to the clinical examination (TSH, FT3, FT4, antiTPO antibodys, antiTg antibodys, antiadrenal antibodies, glycemia, Haemoglobin A1c, Ca, Ca ++ Mg, Alkaline phosphatase, Vitamin D3). Imaging investigations were targeted: echography, DEXA osteodensitometry. Results: Of 7850 patients admitted for 2 years, 15 patients presented celiac disease and endocrine manifestations. Most patients were female, and they came from the urban environment. The main symptom was short stature, diarrhea, abdominal pain. The associated endocrine pathology was type I Diabetes mellitus, autoimmune thyroiditis, growth hormone deficiency, osteopenia and osteoporosis. Conclusions: Celiac disease is underdiagnosed. Endocrine abnormalities should be sought in all patients with celiac disease. Screening for Celiac Disease should be performed in all patients with small stature. The patient and parents should be informed of possible metabolic complications of the disease. [ABSTRACT FROM AUTHOR]