Ioannis Xinias - Academia.edu (original) (raw)

Papers by Ioannis Xinias

Allergologia et Immunopathologia

Pediatric Gastroenterology, Hepatology & Nutrition

Thiamine (vitamin B 1) is a water-soluble vitamin that is not endogenously synthesized in humans.... more Thiamine (vitamin B 1) is a water-soluble vitamin that is not endogenously synthesized in humans. It is absorbed by the small intestine, where it is activated. Its active form acts as a coenzyme in many energy pathways. We report a rare case of thiamine deficiency in a 3.5-year old boy with short bowel syndrome secondary to extensive bowel resection due to necrotizing enterocolitis during his neonatal age. The patient was parenteral nutritiondependent since birth and had suffered from recurrent central catheter-related bloodstream infections. He developed confusion with disorientation and unsteady gait as well as profound strabismus due to bilateral paresis of the abductor muscle. Based on these and a very low thiamine level he was diagnosed and treated for Wernicke encephalopathy due to incomplete thiamine acquisition despite adequate administration. He fully recovered after thiamine administration. After 1999 eight more cases have been reported in the PubMed mostly of iatrogenic origin.

SAGE open medical case reports, 2018

Trichohepatoenteric syndrome or syndromic diarrhea is a rare and severe Mendelian autosomal reces... more Trichohepatoenteric syndrome or syndromic diarrhea is a rare and severe Mendelian autosomal recessive syndrome characterized by intractable diarrhea, facial and hair abnormalities, liver dysfunction, immunodeficiency and failure to thrive. It has been associated with mutations in TTC37 and SKIV2L genes, which encode proteins of the SKI complex that contributes to the cytosolic degradation of the messenger RNA by the cell's exosome. We report a case of a male infant who suffered from typical symptoms and signs of trichohepatoenteric syndrome without immunodeficiency. The patient's genetic testing showed a very rare mutation in SKIV2L gene's 25 exons (p.Glu1038 fs*7 (c.3112_3140del)). Even though our patient was provided with total parenteral nutrition from birth, the child's death in the third year of age highlights the severity of the disease and the poor prognosis of this particular type of genetic predisposition.

Pediatric gastroenterology, hepatology & nutrition, 2017

Breastfeeding is the best way to feed all infants, but not all infants can be (exclusively) breas... more Breastfeeding is the best way to feed all infants, but not all infants can be (exclusively) breastfed. Cow's milk based infant formula is the second choice infant feeding. The safety of a new synbiotic infant formula, supplemented with and fructo-oligosaccharides, with lactose and a whey/casein 60/40 protein ratio was tested in 280 infants during 3 months. The median age of the infants at inclusion was 0.89 months. Weight evolution was in accordance with the World Health Organization growth charts for exclusive breastfed infants. The evolution of all anthropometric parameters (weight-for-length z score and body mass index-for-age z score) was within the normal range. The incidence of functional constipation (3.2%), daily regurgitation (10.9%), infantile crying and colic (10.5%) were all significantly lower than the reported median prevalence for a similar age according to literature (median value of 7.8% for functional constipation, 26.7% for regurgitation, 17.7% for infantile c...

Pediatric Gastroenterology, Hepatology & Nutrition

Clinical and Translational Allergy, 2016

Introduction: Bullous lesions are common skin lesions particularly in childhood. Drug reactions, ... more Introduction: Bullous lesions are common skin lesions particularly in childhood. Drug reactions, burns, insect bites, mosquito bites, skin diseases, autoimmune bullous dermatoses and bacterial infections are the most common etiologies. Herein, we report two children who have solitary mastocytoma presented with variable bullous lesions. Case 1: A 3-year old boy admitted to our outpatient department suffering from red, periodically vesicular and bullous lesions on his back of neck since birth. His medical history revealed that he had four attacks characterized by flushing, perioral paleness, and hypotension. The lesion became swollen and itchy when it was rubbed vigorously (positive Darier's sign). Physical examination revealed a bullous lesion (2 × 3 cm) in his dorsal neck region. Laboratory investigations including CBC, liver and kidney function tests and serum electrolytes were within normal limits. Histopathologic examination of a punch biopsy specimen revealed solitary mastocytoma and the patient is under regular antihistamine treatment. Case 2: A 3-month old boy admitted with complaints of oval, erythematous and periodically changing bullous lesions in his proximal of right ankle since birth. His medical history revealed that the lesion became bullous and itchy when his mother rubbed it vigorously. Physical examination revealed a bullous lesion (1 × 1 cm) in his left foot. Laboratory investigations for possible etiologic factors were within normal limits. Histopathologic examination of a punch biopsy specimen revealed solitary mastocytoma. The patient is uneventfully under regular follow up. Conclusion: Solitary mastocytomas should be considered in the differential diagnosis of periodically varying bullous reactions in children. Consent to publish Written informed consent for publication of this clinical details and/or clinical images was obtained from the patient/parent/guardian/relative of the patient. A copy of the consent form is available for review by the Editor of this journal.

Global pediatric health, 2017

Pediatric gastroenterology, hepatology & nutrition, 2018

To evaluate the efficacy of synbiotic formula with partial whey hydrolysate and high magnesium co... more To evaluate the efficacy of synbiotic formula with partial whey hydrolysate and high magnesium content in infants presenting with functional constipation. Sixty-five infants with functional constipation were included. Forty infants were treated during one month with parental reassurance and the intervention formula and were compared to a control group of 25 infants treated with parental reassurance only. Parents completed a quality of life (QoL) questionnaire at baseline and during the last week of the study. At inclusion, stool characteristics and QoL were similar in both groups. The control group was slightly older than the intervention group (7.5±3.9 vs. 6.2±3.6 weeks). At onset, stool composition was "hard and tight" (Bristol stool scale 1 and 2) in all infants. After one month, stool composition remained unchanged in the control group except in two infants that developed "creamy" stools (Bristol stool scale type 3 and 4). In the intervention group, stools re...

Asian Pacific journal of allergy and immunology / launched by the Allergy and Immunology Society of Thailand, Jan 24, 2016

The Paediatric Allergic Rhinitis Quality of Life Questionnaire (Ped-AR-QoL) is the first tool dev... more The Paediatric Allergic Rhinitis Quality of Life Questionnaire (Ped-AR-QoL) is the first tool developed for the assessment of health-related quality of life (QoL) in Greek children with allergic rhinitis (AR). The aim of the current study was to validate the child and parent forms of the Ped-AR-QoL in children aged 6-14 years-old who suffered from AR and were followed in a pediatric allergy clinic. The Ped-AR-QoL, which was completed by 112 children and their parents, was correlated to the generic QoL questionnaire (Disabkids), which is already valid in Greece for children with chronic disorders, as well as with expert opinions on the severity of disease. The Ped-AR-QoL child and parent forms had very good internal consistency (α values of 0.797 and 0.872, respectively), while there was a moderate positive correlation of the disease-specific questionnaire with most of the subscales of the generic questionnaire. There has been a statistically significant association between the Ped-A...

HAEMA

Acute lymphoblastic leukaemia (ALL) in children can appear rarely with manifestations from the sk... more Acute lymphoblastic leukaemia (ALL) in children can appear rarely with manifestations from the skeleton in the absence of a high white blood cell count or other complications. Limp as initial symptom in the absence of pre-existing disease has previously described at presentation in childhood ALL, but persistent symptoms from the legs for a long period without other ALL indicative clinical or laboratory findings are not usually reported. The authors report a 2.5-year-old boy with ALL presenting with limp of the left leg as unique manifestation and describe the diagnostic difficulties until the diagnosis of ALL was put.

Hellenic journal of nuclear medicine

Digestive and Liver Disease, 2005

Annals of gastroenterology : quarterly publication of the Hellenic Society of Gastroenterology

Pediatric reports, Jan 5, 2013

The relationship between Helicobacter pylori (Hp) gastritis and gastroesophageal reflux disease (... more The relationship between Helicobacter pylori (Hp) gastritis and gastroesophageal reflux disease (GERD) remains controversial. The aim was to investigate the association between Hp infection and gastroesophageal reflux (GER) and the impact of Hp eradication on esophageal acid exposure and motility in adolescents and young adults with Hp gastritis and GERD. Sixty-four patients with symptoms suggestive for GERD, of which 40 Hp-positive (group A) and 24 Hp-negative (group B), underwent endoscopy-biopsy, esophageal manometry and 24-hour pH-metry. All group A patients received eradication treatment and were re-evaluated six months later again with 24-hour pH-metry, esophageal manometry, endoscopy-biopsy and clinical assessment. At inclusion, there were no significant differences between the two groups regarding sex, age, grade of endoscopic esophagitis, manometric and pH-metry findings. All Hp-positive patients had an antral predominant gastritis. Eradication of Hp was successful in all p...

Pediatric neurology, 2004

Gastric emptying time is considered a factor in the increased frequency of gastroesophageal reflu... more Gastric emptying time is considered a factor in the increased frequency of gastroesophageal reflux in children with cerebral palsy. It is unknown if emptying time influences the severity of reflux. In this study, 76 cerebral palsy patients with reflux indicative symptoms were investigated by 24-hour pH monitoring. Reflux complications were also studied. Emptying time in children with reflux was investigated using gastric scintigraphy. Twenty-eight children with resistant asthma scanned for pulmonary aspiration were studied as control subjects for emptying time. Reflux was diagnosed in 51.3%; it was severe in 53.8%, moderate in 38.5%, and mild in 7.7%. Occurrence of reflux did not differ significantly among different forms of cerebral palsy or between males and females. The most frequent complications in reflux-positive patients were iron deficiency (51.3%), anemia (41.0%), malnutrition (33.3%), recurrent upper respiratory tract infections (28.2%), and low body weight (28.2%). Patien...

Allergologia et Immunopathologia

Pediatric Gastroenterology, Hepatology & Nutrition

Thiamine (vitamin B 1) is a water-soluble vitamin that is not endogenously synthesized in humans.... more Thiamine (vitamin B 1) is a water-soluble vitamin that is not endogenously synthesized in humans. It is absorbed by the small intestine, where it is activated. Its active form acts as a coenzyme in many energy pathways. We report a rare case of thiamine deficiency in a 3.5-year old boy with short bowel syndrome secondary to extensive bowel resection due to necrotizing enterocolitis during his neonatal age. The patient was parenteral nutritiondependent since birth and had suffered from recurrent central catheter-related bloodstream infections. He developed confusion with disorientation and unsteady gait as well as profound strabismus due to bilateral paresis of the abductor muscle. Based on these and a very low thiamine level he was diagnosed and treated for Wernicke encephalopathy due to incomplete thiamine acquisition despite adequate administration. He fully recovered after thiamine administration. After 1999 eight more cases have been reported in the PubMed mostly of iatrogenic origin.

SAGE open medical case reports, 2018

Trichohepatoenteric syndrome or syndromic diarrhea is a rare and severe Mendelian autosomal reces... more Trichohepatoenteric syndrome or syndromic diarrhea is a rare and severe Mendelian autosomal recessive syndrome characterized by intractable diarrhea, facial and hair abnormalities, liver dysfunction, immunodeficiency and failure to thrive. It has been associated with mutations in TTC37 and SKIV2L genes, which encode proteins of the SKI complex that contributes to the cytosolic degradation of the messenger RNA by the cell's exosome. We report a case of a male infant who suffered from typical symptoms and signs of trichohepatoenteric syndrome without immunodeficiency. The patient's genetic testing showed a very rare mutation in SKIV2L gene's 25 exons (p.Glu1038 fs*7 (c.3112_3140del)). Even though our patient was provided with total parenteral nutrition from birth, the child's death in the third year of age highlights the severity of the disease and the poor prognosis of this particular type of genetic predisposition.

Pediatric gastroenterology, hepatology & nutrition, 2017

Breastfeeding is the best way to feed all infants, but not all infants can be (exclusively) breas... more Breastfeeding is the best way to feed all infants, but not all infants can be (exclusively) breastfed. Cow's milk based infant formula is the second choice infant feeding. The safety of a new synbiotic infant formula, supplemented with and fructo-oligosaccharides, with lactose and a whey/casein 60/40 protein ratio was tested in 280 infants during 3 months. The median age of the infants at inclusion was 0.89 months. Weight evolution was in accordance with the World Health Organization growth charts for exclusive breastfed infants. The evolution of all anthropometric parameters (weight-for-length z score and body mass index-for-age z score) was within the normal range. The incidence of functional constipation (3.2%), daily regurgitation (10.9%), infantile crying and colic (10.5%) were all significantly lower than the reported median prevalence for a similar age according to literature (median value of 7.8% for functional constipation, 26.7% for regurgitation, 17.7% for infantile c...

Pediatric Gastroenterology, Hepatology & Nutrition

Clinical and Translational Allergy, 2016

Introduction: Bullous lesions are common skin lesions particularly in childhood. Drug reactions, ... more Introduction: Bullous lesions are common skin lesions particularly in childhood. Drug reactions, burns, insect bites, mosquito bites, skin diseases, autoimmune bullous dermatoses and bacterial infections are the most common etiologies. Herein, we report two children who have solitary mastocytoma presented with variable bullous lesions. Case 1: A 3-year old boy admitted to our outpatient department suffering from red, periodically vesicular and bullous lesions on his back of neck since birth. His medical history revealed that he had four attacks characterized by flushing, perioral paleness, and hypotension. The lesion became swollen and itchy when it was rubbed vigorously (positive Darier's sign). Physical examination revealed a bullous lesion (2 × 3 cm) in his dorsal neck region. Laboratory investigations including CBC, liver and kidney function tests and serum electrolytes were within normal limits. Histopathologic examination of a punch biopsy specimen revealed solitary mastocytoma and the patient is under regular antihistamine treatment. Case 2: A 3-month old boy admitted with complaints of oval, erythematous and periodically changing bullous lesions in his proximal of right ankle since birth. His medical history revealed that the lesion became bullous and itchy when his mother rubbed it vigorously. Physical examination revealed a bullous lesion (1 × 1 cm) in his left foot. Laboratory investigations for possible etiologic factors were within normal limits. Histopathologic examination of a punch biopsy specimen revealed solitary mastocytoma. The patient is uneventfully under regular follow up. Conclusion: Solitary mastocytomas should be considered in the differential diagnosis of periodically varying bullous reactions in children. Consent to publish Written informed consent for publication of this clinical details and/or clinical images was obtained from the patient/parent/guardian/relative of the patient. A copy of the consent form is available for review by the Editor of this journal.

Global pediatric health, 2017

Pediatric gastroenterology, hepatology & nutrition, 2018

To evaluate the efficacy of synbiotic formula with partial whey hydrolysate and high magnesium co... more To evaluate the efficacy of synbiotic formula with partial whey hydrolysate and high magnesium content in infants presenting with functional constipation. Sixty-five infants with functional constipation were included. Forty infants were treated during one month with parental reassurance and the intervention formula and were compared to a control group of 25 infants treated with parental reassurance only. Parents completed a quality of life (QoL) questionnaire at baseline and during the last week of the study. At inclusion, stool characteristics and QoL were similar in both groups. The control group was slightly older than the intervention group (7.5±3.9 vs. 6.2±3.6 weeks). At onset, stool composition was "hard and tight" (Bristol stool scale 1 and 2) in all infants. After one month, stool composition remained unchanged in the control group except in two infants that developed "creamy" stools (Bristol stool scale type 3 and 4). In the intervention group, stools re...

Asian Pacific journal of allergy and immunology / launched by the Allergy and Immunology Society of Thailand, Jan 24, 2016

The Paediatric Allergic Rhinitis Quality of Life Questionnaire (Ped-AR-QoL) is the first tool dev... more The Paediatric Allergic Rhinitis Quality of Life Questionnaire (Ped-AR-QoL) is the first tool developed for the assessment of health-related quality of life (QoL) in Greek children with allergic rhinitis (AR). The aim of the current study was to validate the child and parent forms of the Ped-AR-QoL in children aged 6-14 years-old who suffered from AR and were followed in a pediatric allergy clinic. The Ped-AR-QoL, which was completed by 112 children and their parents, was correlated to the generic QoL questionnaire (Disabkids), which is already valid in Greece for children with chronic disorders, as well as with expert opinions on the severity of disease. The Ped-AR-QoL child and parent forms had very good internal consistency (α values of 0.797 and 0.872, respectively), while there was a moderate positive correlation of the disease-specific questionnaire with most of the subscales of the generic questionnaire. There has been a statistically significant association between the Ped-A...

HAEMA

Acute lymphoblastic leukaemia (ALL) in children can appear rarely with manifestations from the sk... more Acute lymphoblastic leukaemia (ALL) in children can appear rarely with manifestations from the skeleton in the absence of a high white blood cell count or other complications. Limp as initial symptom in the absence of pre-existing disease has previously described at presentation in childhood ALL, but persistent symptoms from the legs for a long period without other ALL indicative clinical or laboratory findings are not usually reported. The authors report a 2.5-year-old boy with ALL presenting with limp of the left leg as unique manifestation and describe the diagnostic difficulties until the diagnosis of ALL was put.

Hellenic journal of nuclear medicine

Digestive and Liver Disease, 2005

Annals of gastroenterology : quarterly publication of the Hellenic Society of Gastroenterology

Pediatric reports, Jan 5, 2013

The relationship between Helicobacter pylori (Hp) gastritis and gastroesophageal reflux disease (... more The relationship between Helicobacter pylori (Hp) gastritis and gastroesophageal reflux disease (GERD) remains controversial. The aim was to investigate the association between Hp infection and gastroesophageal reflux (GER) and the impact of Hp eradication on esophageal acid exposure and motility in adolescents and young adults with Hp gastritis and GERD. Sixty-four patients with symptoms suggestive for GERD, of which 40 Hp-positive (group A) and 24 Hp-negative (group B), underwent endoscopy-biopsy, esophageal manometry and 24-hour pH-metry. All group A patients received eradication treatment and were re-evaluated six months later again with 24-hour pH-metry, esophageal manometry, endoscopy-biopsy and clinical assessment. At inclusion, there were no significant differences between the two groups regarding sex, age, grade of endoscopic esophagitis, manometric and pH-metry findings. All Hp-positive patients had an antral predominant gastritis. Eradication of Hp was successful in all p...

Pediatric neurology, 2004

Gastric emptying time is considered a factor in the increased frequency of gastroesophageal reflu... more Gastric emptying time is considered a factor in the increased frequency of gastroesophageal reflux in children with cerebral palsy. It is unknown if emptying time influences the severity of reflux. In this study, 76 cerebral palsy patients with reflux indicative symptoms were investigated by 24-hour pH monitoring. Reflux complications were also studied. Emptying time in children with reflux was investigated using gastric scintigraphy. Twenty-eight children with resistant asthma scanned for pulmonary aspiration were studied as control subjects for emptying time. Reflux was diagnosed in 51.3%; it was severe in 53.8%, moderate in 38.5%, and mild in 7.7%. Occurrence of reflux did not differ significantly among different forms of cerebral palsy or between males and females. The most frequent complications in reflux-positive patients were iron deficiency (51.3%), anemia (41.0%), malnutrition (33.3%), recurrent upper respiratory tract infections (28.2%), and low body weight (28.2%). Patien...