Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 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

Visceral leishmaniasis (kala-azar) is a disease caused by protozoa of genus Leishmania. It is currently regarded as the second most dreaded parasitic disease, next to malaria. There have been very few case reports of visceral leishmaniasis among the renal transplant recipients. We present a renal allograft recipient with symptoms of fever, sore throat, hoarseness of voice, lymphadenopathy, splenomegaly, and pancytopenia after 7 years post-transplant period. On investigating, he was diagnosed to have extensive visceral leishmaniasis with laryngeal involvement. Despite extensive PubMed literature search, we could not find any case report of postrenal transplant visceral and laryngeal leishmaniasis and to the best of our knowledge this is the first case report of this kind.
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PMID:Postrenal transplant laryngeal and visceral leishmaniasis - A case report and review of the literature. 2316 77