Patau sindrom

Genetic syndromes caused by chromosomal aberrations involve a recognizable pattern of multiple congenital anomalies with increased neonatal and infant mortality, making care challenging for the family, primary care practitioners, and specialists. About 28% of children born with trisomy 13 die during the fi rst week of life. The median life expectancy is about 2.5 days. We present a 12-year-old girl, the longest living patient with Patau syndrome in Croatia, followed-up from the birth until the age of 12 years. The conventional nonintervention approach has been revised and we suggest changing the traditional view of the condition.Genetski sindromi uzrokovani kromosomnim aberacijama uključuju prepoznatljivi obrazac višestrukih prirođenih anomalija s povećanom smrtnošću novorođenčadi i dojenčadi, što skrb za njih čini teškom za obitelj, liječnike primarne zdravstvene skrbi i specijaliste. Oko 28% djece rođene s trisomijom 13 umire tijekom prvog tjedna života. Srednje očekivano trajanje života je oko 2,5 dana. Prikazujemo 12-godišnju djevojčicu, najduže živuću bolesnicu s Patauovim sindromom u Hrvatskoj, koju pratimo od rođenja do njezine sadašnje dobi od 12 godina. Konvencionalni pristup zasnovan na izostanku intervencije doživio je reviziju, a mi predlažemo promjenu tradicionalnog pogleda na ovo stanje

Gastrointestinal manifestation of food allergy

Uvod: Nepoželjne ili štetne reakcije na hranu skupina su različitih pojava koje se manifestiraju nakon konzumacije neke hrane. Dijele se u dvije osnovne skupine; one čiji je patofiziološki mehanizam imunološka reakcija (alergije) i one bez imunološke osnovne (intolerancije). Cilj ovog rada je prikazati najčešće gastrointestinalne manifestacije na hranu. Metode: napravljen je pregled objavljene literature. Rezultati: Pojam “alergija na hranu” koristi se za označavanje imunološki posredovane nuspojave na antigene hrane. To uključuje alergiju na hranu posredovanu IgE (alergijske reakcije posredovane imunoglobulinima klase IgE), miješanu IgE i alergijske reakcije koje nisu posredovane imunoglobulinima E. Alergijske reakcije na hranu posredovane imunoglobulinima klase IgE (tip I alergijske reakcije) obično počinju u roku od nekoliko minuta do dva sata od trenutka uzimanja. Dvije različite gastroinestinalne manifestacije ovog tipa reakcije; sindrom oralne alergije i anafilaksija. Alergije na hranu koje nisu posredovane IgE-om se manifestiraju kao subakutni i/ili kronični simptomi koji su tipično izolirani u gastrointestinalnom traktu i/ili koži. Gastrointestinalni alergijski poremećaji na hranu koji nisu posredovani imunoglobulinom E uključuju sindrom enterokolitisa izazvanog bjelančevinama hranom, enteropatiju izazvanu bjelančevinama iz hrane i alergijski proktokolitis izazvan bjelanečvinama iz hrane. U literaturi se ponekad u ovu skupinu ubraja i celijakija/dermatitis herpetiformis i nedostatak željeza kao posljedica alergije na bjelančevine kravljeg mlijeka. Zaključak: Ovaj rad se usmjerio na prikaz gastrointestinalni manifestacija alergija čija je incidencija u porastu i predstavljaju značajan javnozdravstveni problem.Introduction: Adverse food reactions are a group of different phenomena that manifest after consuming food. They are divided into two basic groups: those whose pathophysiological mechanism is an immune reaction (allergies) and those without an immune reaction (intolerance). Aim: The primary goal of this paper is to discuss gastrointestinal manifestations on food. Methods: A review of the published literature was conducted. Results: The term “food allergy” is used to denote an immune-mediated side effect of protein. These include IgE-mediated food allergies, mixed IgE and non immunoglobulin E-mediated allergic reactions (non-IgE). IgE-mediated food allergies begin within minutes to two hours of ingestion. There are two different gastrointestinal manifestations of this type of reaction: oral allergy syndrome and anaphylaxis. Non-IgE-mediated food allergies manifest as subacute and/or chronic symptoms that are typically isolated to the gastrointestinal tract and/or skin. Gastrointestinal allergy disorders that are non-IgE-mediated include food protein-induced enterocolitis syndrome, food protein-induced enteropathy, and food protein-induced allergic proctocolitis. In the literature, celiac disease, dermatitis herpetiformis, and iron deficiency because of allergy to cow’s milk proteins are sometimes included in this group. Conclusion: This paper focused on the presentation of gastrointestinal manifestations of allergies whose incidence is increasing and which represent a significant public health problem

Percutaneous Endoscopic Gastrostomy Tubes Can Be Considered Safe in Children: A Single-Center 11-Year Retrospective Analysis

Background and Objectives: When the human body is disabled to naturally ingest food through the mouth, enteral or parenteral nutritional support should be started. Percutaneous gastrostomy (PEG) is a flexible feeding tube that is inserted into the stomach through the abdominal wall in patients who will need long-term enteral nutrient intake. The aim of this study is to analyze clinical characteristic of children at the time of PEG placement as well as to determine indications, complications and outcomes associated with PEG at the Department of Pediatrics of the University Hospital of Split. Materials and Methods: Retrospective analysis of the medical records of patients treated from 2010 to 2020 was performed. The following data were collected from medical records: age, gender, information about nasogastric feeding before PEG placement, indication for PEG insertion, duration of PEG, procedure-related complications and treatment outcomes. Malnutrition was determined according to the z-score range for BMI for age and sex. According to the indication for PEG placement, patients were divided into five categories: central nervous system (CNS) diseases, neuromuscular diseases, genetic disorders, metabolic diseases, and group of children with polytrauma. Results: A total of 40 patients with median age of 110 months were included in study. At the time of PEG placement, most patients had deviations in body weight and height compared to expected values for age and sex. The most common underlying diagnoses were diseases of the central nervous system. Minor complications were found in 13 (35%) of patients. One patient (2.7%) developed major complication (gastrocolic fistula) and consequently underwent reoperation. The median duration of PEG in patients with complications before the need for replacement was 27 months, and in patients without complications, 43 months. Conclusions: Negative deviations of z-score body weight, body height, and body mass index could indicate the need for possible earlier placement of PEG. PEG can be considered as a safe therapeutic option in children since PEG-related complications, mostly in minor forms, were found in a small number of patients

Percutaneous Endoscopic Gastrostomy Tubes Can Be Considered Safe in Children: A Single-Center 11-Year Retrospective Analysis

Background and Objectives: When the human body is disabled to naturally ingest food through the mouth, enteral or parenteral nutritional support should be started. Percutaneous gastrostomy (PEG) is a flexible feeding tube that is inserted into the stomach through the abdominal wall in patients who will need long-term enteral nutrient intake. The aim of this study is to analyze clinical characteristic of children at the time of PEG placement as well as to determine indications, complications and outcomes associated with PEG at the Department of Pediatrics of the University Hospital of Split. Materials and Methods: Retrospective analysis of the medical records of patients treated from 2010 to 2020 was performed. The following data were collected from medical records: age, gender, information about nasogastric feeding before PEG placement, indication for PEG insertion, duration of PEG, procedure-related complications and treatment outcomes. Malnutrition was determined according to the z-score range for BMI for age and sex. According to the indication for PEG placement, patients were divided into five categories: central nervous system (CNS) diseases, neuromuscular diseases, genetic disorders, metabolic diseases, and group of children with polytrauma. Results: A total of 40 patients with median age of 110 months were included in study. At the time of PEG placement, most patients had deviations in body weight and height compared to expected values for age and sex. The most common underlying diagnoses were diseases of the central nervous system. Minor complications were found in 13 (35%) of patients. One patient (2.7%) developed major complication (gastrocolic fistula) and consequently underwent reoperation. The median duration of PEG in patients with complications before the need for replacement was 27 months, and in patients without complications, 43 months. Conclusions: Negative deviations of z-score body weight, body height, and body mass index could indicate the need for possible earlier placement of PEG. PEG can be considered as a safe therapeutic option in children since PEG-related complications, mostly in minor forms, were found in a small number of patients