Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0728731 (prematurity)
 7,134 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We have studied the clinical presentation and course of a chronic inflammatory disease occurring in childhood and observed in 30 patients. The first symptoms were generally present at birth, except in a few patients where they were first noticed in early infancy. All the patients had the association of three main symptoms: neurological, cutaneous and articular. The skin rash was the first symptom observed in all the patients and looked like a chronic non pruritic urticaria varying during the day. The articular manifestations involved knees, ankles and feet, elbows, wrists and hands unaffecting the other joints. They could be mild giving arthritis during flare-ups or severe with major radiological modifications affecting the epiphysis, metaphysis and growth cartilage. The neurological manifestations were characterized by a chronic meningitis and symptoms indicating meningeal irritation: headaches, seizures, spasticity of legs. Most patients had a cerebral atrophy and a low IQ. Sensory organ involvement occurred progressively during the follow-up: ocular inflammation with optic atrophy, deafness and hoarseness. Common morphological features characterized these patients with short stature, head enlargement, saddle back nose and short and thick extremities with clubbing of fingers. The course was that of a chronic inflammatory disease with numerous flare-ups associating fever, splenomegaly and adenomegaly. Except for a high level of eosinophils in blood, CSF and tissues, the biology was non specific and only exhibited features of inflammation. Except for two families, the disease was sporadic. A high frequency of prematurity with features resembling a foetal infection was observed but no proof of a possible causal virus has so far been found so that etiology remains unknown.
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PMID:A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients. 348 35

Recurrent respiratory papillomatosis (RRP) is a rare disease in children. Previous reports suggested that prematurity and early age of presentation were poor prognostic factors. We report on a 24-week premature infant who presented with stridor, weak cry, and hoarseness of voice at age 9 months (corrected age), in whom the diagnosis of RRP was not made until age 21 months (corrected age). Laser excision of RRP was subsequently performed, and the child is still surviving at age 2.5 years. RRP should be considered in the differential diagnosis of airway problems in survivors of extreme prematurity; the prognosis is not uniformly poor in premature infants.
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PMID:Recurrent respiratory papillomatosis in a survivor of extreme prematurity. 1533 16

Subglottic cysts (SGCs) are a rare cause of airway obstruction in children. Medical advances, higher survival rates for preterm infants, and improved diagnostic equipment have increased the number of reported cases of SGCs over the last three decades, the majority occurring in infants who had been extremely premature neonates and had suffered from respiratory distress, therefore having been intubated and managed in neonatal ICUs. Symptoms of laryngeal cysts depend on the size and the location of the cyst and include a change in the tone of voice, dysphonia, hoarseness, dysphagia, stridor, and dyspnea. This condition is often misdiagnosed as laryngomalacia, asthma, croup, or other diseases, due to the fact that it manifests as recurring respiratory infections, stridor, and wheezing. Death can occur in severe cases that are not treated. When present, it may account for severe inspiratory stridor that compromise the airway. The accepted gold standard treatment is direct laryngoscopy with marsupialization of the cyst to prevent recurrence. Two cases of subglottic cyst in our centre are described here. Although all cases presented differently, but in both of our cases, which have previous history of intubation with prematurity were initially diagnosed as laryngomalacia and croup.
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PMID:Stridor Secondary to Acquired Subglottic Cyst: Rarity Makes it Missed. 3174 28