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Divericulae disease

Patroula Smpokou, Monisha Samanta, Gerard T Berry, Leah Hecht, Elizabeth C Engle, Uta Lichter-Konecki
Menkes disease (MD; OMIM 309400) is an X-linked, neurodegenerative disorder resulting from deficient activity of copper-dependent enzymes and caused by alterations in the APT7A gene. In its classic form, it manifests in boys with hypotonia, seizures, skin and joint laxity, hair twisting (pili torti), cerebrovascular tortuosity, and bladder diverticulae. Menkes disease phenotypes have been reported in females with X; autosome translocations-disrupting ATP7A gene function- or ATP7A gene alterations. Those females manifest variable clinical findings, some of which, such as pili torti, seizure presence and/or age of onset, cerebrovascular tortuosity, degree of intellectual disability, and bladder divericulae are largely under-reported and under-studied...
February 2015: American Journal of Medical Genetics. Part A
H Kuivaniemi, L Peltonen, A Palotie, I Kaitila, K I Kivirikko
Biochemical abnormalities were studied in two brothers with bladder divericulas, inguinal hernias, slight skin laxity, and hyperelasticity and skeletal abnormalities including occipital exostoses. Lysyl oxidase activity was low in the medium of cultured skin fibroblasts, this abnormality being accompanied by reduced conversion of the newly synthesized collagen into the soluble form. Copper concentrations were markedly elevated in the cultured skin fibroblasts, but decreased in the serum and hair. Serum cerulophasmin levels were also low...
March 1982: Journal of Clinical Investigation
S M Sobol, K Prince, D Cronin
While less common than stricture, recurrent neoplasm, and neuromuscular dysfunction, neopharyngeal diverticulum must be considered in the differential diagnosis of postlaryngectomy dysphagia. Symptoms of difficulty clearing the neopharynx during and after a swallow, with regurgitation of undigested material, should alert the clinician to this possibility. Experience with 3 postlaryngectomy patients with anterior neopharyngeal divericulae serve as the springboard for discussion of the clinical spectrum, radiologic features, contributory pathophysiologic factors, and therapeutic options concerning this condition...
November 1990: Head & Neck
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