There is a well-recognised association of MI with cystic fibrosis (CF). 10% - 15% of infants with CF will present with MI 1. A Dutch study identified that in their patient population CF infants were more likely to present with complicated MI 3. [npeu.ox.ac.uk]

Mortality and morbidity is still high compared with statistics from developed countries due to late presentation to pediatric surgeon and there is no specific neonatal surgical intensive care unit beside the pediatric surgery department. [journals.sbmu.ac.ir]

In the neonate, TGA is the most common condition presenting with profound cyanosis. [brainscape.com]

Rarely, feeding difficulty, tachypnea, or gastrointestinal hemorrhage can be presenting symptoms. [dovepress.com]

Diagnosis is based on clinical presentation and x-rays. Treatment is enemas with dilute contrast under fluoroscopy and surgery if enemas fail. [merckmanuals.com]

• Arachnodactyly

  Seite 896 - Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. N Engl J Med 1992;326:905-909. ‎ [books.google.de]

• Falling

  If we find trials which are multi‐arm they will possibly fall into more than one comparison. In such cases, where the two active treatment arms are different types of laxative regimen, e.g. [cochranelibrary-wiley.com]

• Ulcer

  Stress ulcer. Meconium ileus. Metabolic or respiratory acidosis. Apnoea or prematurity. Bacteraemia. Candidiasis. Coarctation of the aorta. Enteroviral infection. Gastro-oesophageal reflux. Hirschsprung's disease. Hospital-acquired infections. [patient.info]

  Findings at laparotomy in children with CF who presented with presumed DIOS that did not respond to medical therapy included colonic strictures with histopathological changes of postischemic ulceration repair, with mucosal and submucosal fibrosis, destruction [emedicine.medscape.com]

  8q13 Monosomy 8q21.11 Monosomy 8q22.1 Monosomy 8q24.1 Monosomy 8q24.3 Monosomy 9p Monosomy 9p13 Monosomy 9pter Monosomy 9q22.3 Monosomy 9q31.1q31.3 Monosomy 9q33.3q34.11 Monosomy X Monosomy Xq21 Monostotic fibrous dysplasia Montgomery syndrome Mooren ulcer [orpha.net]

  Clinical manifestations can range from intestinal obstruction, abdominal pain, GI bleeding, ulceration, or mediastinal compression. [home.coqui.net]

  • Typically lined by ileal mucosa but ectopic gastric mucosa can occur, with the risk of peptic ulceration. Pancreatic and jejunal mucosa can also occur. [brainscape.com]

• Ectopia Lentis

  Seite 896 - Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. N Engl J Med 1992;326:905-909. ‎ [books.google.de]

  An early and distinctive finding is dislocation of the lens of the eye (ectopia lentis). Patients are at high risk for developing thromboembolism that may occur at any age. These may lead to stroke, seizures, permanent neurologic sequela and death. [genico.ch]

• Phenylketonuria

  […] necrotizing encephalopathy Maternally-inherited Leigh disease Maternally-inherited mitochondrial dystonia Maternally-inherited mitochondrial myopathy Maternally-inherited spastic paraplegia Maternally-inherited SPG Maternal monosomy 14q32.2 Maternal phenylketonuria [orpha.net]

  Studies on phenylketonuria: I. Restriction phenylalanine intake in phenylketonuria. J Clin Invest 34:565, 1955. Cockburn, F., Barwell, B.E., Brenton, D.P., et al. Recommendations on the dietary management of phenylketonuria. [genico.ch]

  The traditional screening criteria have been used to justify universal newborn screening for disorders when early intervention is required soon after birth to prevent death or severe disability, as with phenylketonuria (PKU) ( 7 ). [cdc.gov]

Workup usually involves abdominal radiography, which may direct further evaluation with fluoroscopic examination such as an UGI contrast study or contrast enema. [dovepress.com]

Workup of such patients includes measuring plasma amino acids and looking for succinylacetone on urine organic acid analysis. [genico.ch]

Measures of treatment effect For dichotomous data (complete DIOS, incomplete DIOS, pooled adverse effects, failure to tolerate treatment and adherence), we will calculate a pooled estimate of the treatment effects for each outcome across trials using [cochranelibrary-wiley.com]

Changing patterns of treatment and survival in neonates with meconium ileus. Arch. Surg. 124 :837, 1989 Google Scholar 25. [link.springer.com]

Treatment Oral hydrocortisone in a physiologic replacement dose is the treatment of choice for CAH. [genico.ch]

Cystic Fibrosis Treatment Right now, there is no treatment that can cure cystic fibrosis. However, many treatments exist for the symptoms and complications of this disease. [chp.edu]

It is recommended to review ongoing need for disimpaction on day 4 of treatment. [rch.org.au]

In general, bowel reconstruction is achieved by an end-to-end (or end-to-side) anastomosis (or anastomoses in multiple atresias). 15, 16 The prognosis is usually good unless excessive bowel resection is needed. [aafp.org]

MRP shows a strong correlation with an advanced clinical stages and poor prognosis. High telomerase activity is associated with poor prognosis and high N-myc amplification. [home.coqui.net]

Prognosis Progress in the medical and psychological management of patients with cystic fibrosis has lead to a significant improvement in survival in recent years. Successful pregnancies are now possible. [amboss.com]

Complications and prognosis [ 17 ] Perforation. Acquired short bowel syndrome (following surgery). Stoma-related complications. [ 18 ] DIC. Sepsis and shock. Intestinal strictures ( 30%). Enterocolic fistulae. Abscess formation. [patient.info]

Meconium ileus: a critical review of treatment and eventual prognosis. J. Pediatr. Surg. 6 :290, 1971 Google Scholar 31. West, D.K., Touloukian, R.J.: Meconium pseudocyst presenting as a buttock mass. J. Pediatr. [link.springer.com]

Duodenal atresia: The etiology of duodenal atresia is from failure to recanalize the lumen after the solid phase of intestinal development. [pedclerk.bsd.uchicago.edu]

"Neonatal giant cell hepatitis: histological and etiological findings.". Am J Surg Pathol 34 (10): 1498-503. doi : 10.1097/PAS.0b013e3181f069ab. [librepathology.org]

Etiology Hereditary autosomal recessive disorder Defective CFTR ( cystic fibrosis transmembrane conductance regulator ) protein due to mutation in CFTR gene The most common mutation is DeltaF508 on chromosome 7 Over 1900 different mutations have been [amboss.com]

Infection is the usual cause of enlargement; viral etiology and persist for months. [home.coqui.net]

Its etiology is believed to be failure of recanalization of this bowel segment during the early gestational stage. [aafp.org]

[1] References: [1] Epidemiological data refers to the US, unless otherwise specified. [amboss.com]

Epidemiology: Meconium ileus is seen mostly in two populations: Cystic fibrosis (CF) patients. CF patients tend to have thick secretions in their intestines as a result of their disease. Preterm infants. [eapsa.org]

Diagnosis and treatment remain very difficult and challenging. [ 3 ] Epidemiology [ 3 ] It is estimated that nearly 12% of infants born weighing less than 1500 g will develop NEC and about 30% of these infants will not survive. [ 4 ] More than 85% of [patient.info]

Epidemiology and survival analysis of cystic fibrosis in an area of intense neonatal screening over 30 years. Am J Epidemiol 2002;156:397--401. Sims EJ, McCormick J, Mehta G, Mehta A. [cdc.gov]

Population and epidemiology information point to G6PD deficiency as providing some resistance to malaria. Clinical Babies with G6PD deficiency appear normal at birth. [genico.ch]

Cow's milk protein-induced enterocolitis and glucose-6-phosphate dehydrogenase deficiency have been mooted as possible pathophysiological mechanisms. [patient.info]

A review of pathophysiology and management of foetuses and neonates with meconium ileus for the pediatric surgeon. J Pediatr Surg 2012;47: 772–781. Copeland DR, St Peter SD, Sharp S et al. Diminishing role of contrast enema in simple meconium ileus. [npeu.ox.ac.uk]

References: [2] [3] Pathophysiology Mutated CFTR gene misfolded protein retained protein in RER that is unable to reach the cell membrane defective chloride channel inability to transport intracellular chloride ions across the membrane exocrine glands [amboss.com]

Pathophysiology Fetuses with CF have abnormal development of the pancreas and intestinal tract. Expression of the cystic fibrosis transmembrane conductance regulator gene ( CFTR ) can be detected in the pancreatic ductules at 18 weeks’ gestation. [emedicine.medscape.com]

Pediatric Gastrointestinal Disease: Pathophysiology, Diagnosis, Management, 3rd ed. Boston: BC Decker, 2000. "Intestinal Obstruction." The Merck Manual of Medical Information, Second Home Edition Eds. Mark H. Beers, et al. [healthofchildren.com]

This review will focus upon the use of laxative agents (aperients) for the prevention of DIOS. [cochranelibrary-wiley.com]

Prevention Most cases of intestinal obstruction are not preventable. Surgery to remove tumors or polyps in the intestines helps prevent recurrences, although adhesions can form after surgery, which can be another cause of obstruction. [healthofchildren.com]

Prevention Feeding with human milk is known to be an effective intervention in the prevention of NEC. [ 21 ] Other interventions have a limited evidence base but have focused on reducing the multiple contributing factors in a susceptible host. [patient.info]

The main goals of treatment for someone with cystic fibrosis are to prevent and treat infections, keep the airways and lungs as clear as possible, and maintain adequate calories and nutrition. [chp.edu]

Preventive Services Task Force. Guide to clinical preventive services. 2 nd ed. Baltimore, MD: Williams & Wilkins, 1996. Farrell PM, Shen G, Splaingard M, et al. Acquisition of Pseudomonas aeruginosa in children with cystic fibrosis. [cdc.gov]