Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

YM is the first son of Tunisian consanguineous parents who developed, at 2 weeks of life, an erythematous and scaly eruption, with subsequent rapid evolution toward generalized pustular psoriasis. Afterward, cutaneous flares of diffuse erythematous rash and pustules involving the whole body appeared, with a once weekly periodicity. Intense irritability was present during flares without fever. Moreover, since 1 month of age the infant presented with diarrhea, dysphagia, and reduced feeding rate, with failure to thrive. Laboratory tests during acute flares showed marked leukocytosis, thrombocytosis, and anemia without C-reactive protein elevation. Skin biopsy and clinical presentation were consistent with pustular psoriasis; nevertheless, the patient did not respond to high-potency topical corticosteroids and retinoid acid. As the patient presented with repeated skin flares early after birth, as well as serious constitutional distress with failure to thrive, an autoinflammatory syndrome like interleukine-1-receptor antagonist deficiency or interleukin-36-receptor antagonist deficiency (DITRA) was considered. The hypothesis was reinforced by parental consanguinity, and absence of skin lesion improvement under standard topical treatment. Genetic analyses showed a homozygous mutation in the IL36RN gene (L27P), which represents the same mutation recently described in DITRA patients. At age 6 months we started treatment with the recombinant interleukin-1 receptor antagonist anakinra with efficacy both on constitutional symptoms and skin involvement. DITRA is a recently described autoinflammatory disease characterized by repeated flares of generalized pustular psoriasis, high fever, asthenia, and systemic inflammation. We report herein the first exhaustive clinical description of an infant with DITRA who was successfully treated with anakinra.
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PMID:First clinical description of an infant with interleukin-36-receptor antagonist deficiency successfully treated with anakinra. 2464 Dec 15

A right-sided aortic arch with an aneurysm of the aberrant subclavian artery is a rare disease. We report a case of Kommerell's diverticulum of an aberrant left subclavian artery in a patient with a right-sided aortic arch with associated ventricular septal defect. Fewer than 50 cases have been reported in literature so far. Our patient presented with short duration of dysphagia without any syncope or left subclavian steal syndrome. The major morbidity was caused by Barrett's oesophagus with reflux and a mixed paraoesophageal and hiatal hernia. There was associated psoriasis. An attempt at repair was not undertaken because of the high operative risk and a small aneurysm. Left thoracotomy for direct repair of Kommerell's diverticulum is a simple and safe method.
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PMID:A Rare Cause of Dysphagia--Kommerell's Diverticulum. 2659 Nov 31

This paper reviews current indications for otolaryngology consultation for tonsillectomy and adenoidectomy (T&A). Despite often being performed concurrently, these procedures should be considered separate surgeries done for different indications. The American Academy of Otolaryngology - Head and Neck Surgery published tonsillectomy guidelines for children in 2019. These recommendations are often extrapolated to adults in clinical practice despite less robust literature support for this age group. T&A should be recommended for pediatric obstructive sleep apnea. Specific frequencies of tonsillitis have been identified that indicate benefit from tonsillectomy in normal children; certain modifying health factors warrant consideration of surgery with fewer infections. The guidelines include consideration of tonsillectomy for poorly validated indications such as halitosis, febrile seizure, dental malocclusion, dysphagia, dysphonia, and psoriasis.
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PMID:Current Indications for Tonsillectomy and Adenoidectomy. 3321 85