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Treatment and follow up of children with chronic
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ABSTRACT: Background: Arthrogryposis- renal tubular dysfunction - cholestasis (ARC) syndrome is a rare multisystem disorder originally described in 1973 and recently ascribed to mutation in VPS33 B whose product acts in intracellular... more
ABSTRACT: Background: Arthrogryposis- renal tubular dysfunction - cholestasis (ARC) syndrome is a rare multisystem disorder originally described in 1973 and recently ascribed to mutation in VPS33 B whose product acts in intracellular trafficking. It exhibits wide clinical variability but the constipation isn’t a characteristic clinical sign. Case: This girl presented after birth severe contractures of legs. She was admitted at 30 days of age with poor feeding, cholestatic jaundice with normal GGT and failure to thrive . Also we have noted a severe acidosis (pH=7.2) associated with aminoaciduria and glucosuria. At second month of age the girl presented a severe ichtyosis, recurrent fever and constipation. Apart from treatment the constipation has persisted. The baby died of sepsis at 12 weeks of age. Conclusion: ARC syndrome exhibits notable clinical variability. Constipation has not been reported previously on the contrary diarrhea is a frequent clinical sign. Knowledge of this rare...
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Aims: to describe the most recent data on the epidemiology of celiac disease in paediatric patients in Albania. Method: 44 patients diagnosed with celiac disease (based on ESPHAGAN's criteria) during 2011-2013. The diagnosis was... more
Aims: to describe the most recent data on the epidemiology of celiac disease in paediatric patients in Albania. Method: 44 patients diagnosed with celiac disease (based on ESPHAGAN's criteria) during 2011-2013. The diagnosis was established using serological testing, level of tTG antibodies (IgA) as well as the degree of mucosal lesions through duodenal biopsy using endoscopy of upper gastro-intestinal tract. March classification was used to evaluate degree of histological changes in the small bowel. Results and discussions: we had 26 girls and 16 boys, age interval 1-15 years, mean age for girls was 5,80 (1,1-13,8) and for boys was 6,09 (1,8-14,0). Symptoms presented were as follows: 38% had growth and developmental delays, 20% chronic diarrhoea, 11% abdominal pain, 7% vomiting, 4.5% anaemia, 3% abdominal distention, 2.2% chronic constipation, 2,2% irritability (asthenia) and 11% other symptoms. One in four patients had other associated disorders such as diabetes mellitus type ...
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The patient A.N. is diagnosed with Craniopharyngeoma at the age of four years old and undergoes three neurosurgical interventions because of the tumor’s recidivism. The third intervention is at the age of six years old. The patient... more
The patient A.N. is diagnosed with Craniopharyngeoma at the age of four years old and undergoes three neurosurgical interventions because of the tumor’s recidivism. The third intervention is at the age of six years old. The patient presents at our clinic at the age of five and a half years old, after his second neurosurgical intervention when he presents with left hemiconvulsions. AED therapy with Carbamazepine therapy is started and is continued for 5 years. During this time the child remains seizure free and the CBZ is terminated. Six months after the AED termination the child presents generalized seizures refractory to treatment. Valproic acid is started followed by Lamotrigine. The seizures stop. One month later, at the age of fifteen years old the patient manifests a hypersensitivity skin reaction with erythema multiforme and generalized desquamation of the skin. Diagnosis of Lamotrigine induced Stevens-Johnson syndrome is made and the child is inappropriately admitted at the a...
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We assessed how the diagnosis of Celiac Disease (CD) is made and how the new ESPGHAN guidelines can be applied in children from countries with different resources. A real life prospective study was performed in 14 centres of 13 different... more
We assessed how the diagnosis of Celiac Disease (CD) is made and how the new ESPGHAN guidelines can be applied in children from countries with different resources. A real life prospective study was performed in 14 centres of 13 different Mediterranean countries. Participants were asked to apply the usual diagnostic work-up for CD according to their diagnostic facilities. There were 1974 patients enrolled in the study, mean age 4 years, 10 months; 865 male, 1109 female. CD was confirmed in 511 (25.9%) and was unconfirmed in 1391 (70.5%) patients; 14 patients were diagnosed as having CD according to the new ESPGHAN guidelines, 43 patients were classified as having potential CD. In all participating countries the diagnosis of CD relied on histology of duodenal biopsy; in 5 countries, HLA, and in one country endomysial antibodies (EMA) were not available. Symptoms did not add a significant increase to the pre-test probability of serological tests. The positive predictive value of tissue...
Research Interests: Medicine, Hepatology, Biopsy, Prospective studies, Humans, and 15 moreInternal Medicine, Celiac Disease, Female, Male, Connective tissue, Clinical Sciences, Intestines, Mediterranean region, Tissue Transglutaminase, Gtp Binding Proteins, Autoantibodies, Child preschool, Guideline Adherence, Prospective Cohort Study, and Health Resources
DESCRIPTION The reflux disease in children is a well known pathology, which is subject of both surgical and non-surgical approach. The latter is mainly used for children with coexisting diseases. There are two main surgical procedures... more
DESCRIPTION The reflux disease in children is a well known pathology, which is subject of both surgical and non-surgical approach. The latter is mainly used for children with coexisting diseases. There are two main surgical procedures used to treat this situation; either an open or a less invasive laparoscopic approach. Both have been broadly discussed and compared in the medical literature.
Aim: To evaluate the role of H pylori in peptic ulcer disease in albanian children according to clinical findings, histological data and eradication rate. Methods and patients: We have enrolled in this study all the patients who underwent... more
Aim: To evaluate the role of H pylori in peptic ulcer disease in albanian children according to clinical findings, histological data and eradication rate. Methods and patients: We have enrolled in this study all the patients who underwent to FGS for gastrointestinal symptoms during three years. We found 22 patients with peptic ulcer disease 20 of them with duodenal ulcer and 2 with gastric ulcer. For each patient we performed two biopsies (antrum and corpus ) and one more antral biopsy for urease rapid test. After completing the data for 22 patients we have started eradication therapy for Hp positive group. Two months after therapy we have evaluated the eradication rate. For each patient we have included clinical, endoscopic and histological findings. Results: Of the 22 patients with peptic ulcer disease we found 17 patients infected by H pylori and 5 patients negative for H pylori. Range was from 8 years old to 14 years old (mean age was 11,3 years old). In this study with 22 patie...
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Calprotectin is an intracellular calcium and zinc binding protein found in the cytosol of neutrophils with bacteriostatic and fungistatic properties [1,2] Fecal calprotectin is used as an noninvasive biomarker for intestinal inflammation... more
Calprotectin is an intracellular calcium and zinc binding protein found in the cytosol of neutrophils with bacteriostatic and fungistatic properties [1,2] Fecal calprotectin is used as an noninvasive biomarker for intestinal inflammation and has mainly been associated with active IBD . Traditionally a high level of fecal calprotectin in chidren has been correlated with mucosal inflammation such as inflammatory bowel disease, infectious diarrhea, necrotizing enterocolitis, and diverticular disease. [4] Several studies confirm that fecal calprotectin is very sensible in diagnostic of solitary polyps [5] such as in our case.
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Gaucher disease (GD) is a lysosomal storage disorder that responds well to enzyme replacement therapy (ERT). Certain laboratory parameters, including blood concentration of glucosylsphingosine (Lyso-Gb1), the lyso-derivate of the common... more
Gaucher disease (GD) is a lysosomal storage disorder that responds well to enzyme replacement therapy (ERT). Certain laboratory parameters, including blood concentration of glucosylsphingosine (Lyso-Gb1), the lyso-derivate of the common glycolipid glucocerebroside, correlate with clinical improvement and are therefore considered candidate-monitoring biomarkers. Whether they can indicate a reduction or loss of treatment efficiency, however, has not been systematically addressed for obvious reasons. We established and validated measurement of Lyso-Gb1 from dried blood spots (DBSs) by mass spectrometry. We then characterized the assay’s longitudinal performance in 19 stably ERT-treated GD patients by dense monitoring over a 3-year period. The observed level of fluctuation was accounted for in the subsequent development of a unifying data normalization concept. The resulting approach was eventually applied to data from Lyso-Gb1 measurements after an involuntary treatment break for all 1...
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Background Glycogen storage disease type XII is a rare metabolic disease resulting from Aldolase A deficiency that causes muscle glycogen accumulation, with crisis of rhabdomyolysis and hemolytic anemia. In the very few cases described,... more
Background Glycogen storage disease type XII is a rare metabolic disease resulting from Aldolase A deficiency that causes muscle glycogen accumulation, with crisis of rhabdomyolysis and hemolytic anemia. In the very few cases described, rhabdomyolysis crises are caused by fever and/or exercise and can accompany acute hemolytic anemia. Although currently there is no therapy available for this disease, the guidelines for the management of other forms of glycogen storage diseases recommend a nutritional therapy in order to avoid hypoglycemia or prevent exercise-induced rhabdomyolysis. Case presentation In this case report we describe a new phenotype of the disease in a 14-year-old boy, characterized by seizures and rhabdomyolysis. Beside an antiepileptic treatment, we propose a new therapeutic approach based on ketogenic diet in order to supply an energetic substrate for skeletal muscle and neurons. Conclusions The anti-epileptic therapy and the dietetic approach were well tolerated by...
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Background The World Gastroenterology Organization recommends developing national guidelines for the diagnosis of Celiac Disease (CD): hence a profile of the diagnosis of CD in each country is required. We aim to describe a... more
Background The World Gastroenterology Organization recommends developing national guidelines for the diagnosis of Celiac Disease (CD): hence a profile of the diagnosis of CD in each country is required. We aim to describe a cross-sectional picture of the clinical features and diagnostic facilities in 16 countries of the Mediterranean basin. Since a new ESPGHAN diagnostic protocol was recently published, our secondary aim is to estimate how many cases in the same area could be identified without a small intestinal biopsy. Methods By a stratified cross-sectional retrospective study design, we examined clinical, histological and laboratory data from 749 consecutive unselected CD children diagnosed by national referral centers. Results The vast majority of cases were diagnosed before the age of 10 (median: 5 years), affected by diarrhea, weight loss and food refusal, as expected. Only 59 cases (7.8%) did not suffer of major complaints. Tissue transglutaminase (tTG) assay was available, ...
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Background Treatment of Hepatitis C in children has a better outcome than in adults, and for this reason the treatment had different views. However, in pediatric age hepatitis C is seen to have an evolution towards chronicity. Today is a... more
Background Treatment of Hepatitis C in children has a better outcome than in adults, and for this reason the treatment had different views. However, in pediatric age hepatitis C is seen to have an evolution towards chronicity. Today is a normal option to treat chronic hepatitis C as early as possible according to certain criteria. The aim of this study is to show the results of treatment with interferon and ribavirin and the follow-up of children diagnosed with chronic hepatitis C in our service. Patients and methods This is a prospective study which has included children 3 up to 15 years old (13 boys and 4 girls) diagnosed with chronic hepatitis C. All patients underwent a certain protocol, including liver biopsy prior to treatment. Treatment consisted in use for 48 weeks of INF α-2b, 3 MIU/m2 three times a week s/c and ribavirin 15 mg/kg orally divided bid. Two patients were treated with PEGINF α-2b with dose 1.5 mcg/kg once a week s/c and ribavirin 15 mg/kg. After the treatment a...
Research Interests: Microbiology, Medical Microbiology, Virology, Treatment Outcome, Research, and 15 moreAdolescent, Albania, Prospective studies, Humans, Child, Female, Male, Recurrence, Recombinant Proteins, chronic hepatitis C, Polyethylene Glycols, Ribavirin, Antiviral Agents, Interferon Alpha, and Child preschool
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To verify the precision and accuracy of transglutaminase antibodies (TGA) assays across Mediterranean countries. This study involved 8 referral centres for celiac disease (CD) in 7 Mediterranean countries. A central laboratory prepared 8... more
To verify the precision and accuracy of transglutaminase antibodies (TGA) assays across Mediterranean countries. This study involved 8 referral centres for celiac disease (CD) in 7 Mediterranean countries. A central laboratory prepared 8 kits of 7 blinded and randomized serum samples, with a titrated amount of Human TGA IgA. Each sample was analysed three times on three different days, with each centre running a total of 21 tests. The results were included in a blindly coded report form, which was sent to the coordinator centre. The coordinator estimated the mean coefficient of Variation (CoVar = σ/μ), the mean accuracy (Accur = Vobserved - Vreal) and the mean percent variation (Var% = [(Vobserved - Vreal)/Vreal] × 100). The analysis showed that 79.17% of the mean variation fell between -25% and +25% of the expected value, with the accuracy and precision progressively increasing with higher titres of TGA. From values 1.25 times greater than the normal cut-off, the measurements were ...
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ABSTRACT Case Presentation A three year old girl is presented in our clinic with anorexia, vomiting, irritability, abdominal pain and constipation. She is the first child of an Albanian couple. The pregnancy and delivery were uneventful.... more
ABSTRACT Case Presentation A three year old girl is presented in our clinic with anorexia, vomiting, irritability, abdominal pain and constipation. She is the first child of an Albanian couple. The pregnancy and delivery were uneventful. She is vaccinated according to Albanian schedule .She has not history of previous diseases or psychiatric problems .According to her parents she has lost 3 kg in the last 2 months presenting symptoms as above mentioned. Initially she was treated in a local hospital but without any improvement (Figure 1). On physical examination this girl presents signs of malnutrition. Her weight was 11 kg (-3DS) and her height was 92 cm (-2DS) .Cardiac sounds were normal. Auscultation of lungs was uneventful. Abdomen was distended but without hepatosplenomegaly. Her behavior was normal for age and neurological evaluation was normal. The laboratory analyses shows: WBC=12 x 10 3 /mm3; RBC=5.08 x 10 6 /mm3; HGB=7.7g/dl; PLT=358; x 10 3 /mm3. Urinalysis and biochemical findings were normal. IgA + IgG antitransglutaminasis was normal. Abdominal ultrasonography and X-ray does not reveal anything Abstract Background: Rapunzel syndrome is an extremely rare