1/7. selenium deficiency in long-term total parenteral nutrition.Although selenium is an essential trace element, it is often not routinely added to total parenteral nutrition (TPN) formulations. When selenium is not added, patients are at risk for selenium deficiency. This report describes such a patient. He had several operations for colon cancer, including a massive resection of the small bowel that resulted in a short bowel and a fistula. TPN was started after his last operation. After he was discharged, he had a normal, active lifestyle, except that he limited oral intake to water and an occasional soft drink. After 3 years of almost exclusive nourishment by TPN, he developed whitened nail beds. Investigation for possible trace element deficiency resulted in a finding that he had very low levels of selenium in his blood. He did not have any of the cardiac or skeletal muscle abnormalities that have been associated with selenium deficiency. After supplementation with selenium, his blood levels of selenium rose and the nail bed changes were reversed.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/7. Importance of genetic diagnosis of DAX-1 deficiency: example from a large, multigenerational family.BACKGROUND: Inactivating mutations of DAX-1 give rise to the X-linked form of adrenal hypoplasia congenita (AHC). Affected fetuses are at risk of early postnatal Addisonian crisis, but the variable phenotypic expression of DAX-1 insufficiency renders this diagnosis challenging. methods: We describe the familial transmission of AHC over several generations. The proband was diagnosed with adrenal insufficiency at age 3.5 years: molecular analysis revealed a novel, 373-bp deletion including the second exon of DAX-1. Given the familial history of several unexplained deaths in male infants related to the proband via his maternal great-grandmother, we hypothesized that all these boys had been affected with AHC. Another female member of the family being pregnant with a male fetus at the time, we performed DAX-1 analysis on the mother and the newborn. The mother was heterozygous for the deletion, and the newborn hemizygous: he presented an adrenal crisis at 10 days of life, and is now doing well on hormone replacement therapy. CONCLUSION: The unfortunate deaths of male infants at each generation of this family underlie the importance of early and precise diagnosis of this rare condition, stressing the value of genetic diagnosis in six potential female carriers of this family entering their reproductive years.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
3/7. hand-foot syndrome variant in a dihydropyrimidine dehydrogenase-deficient patient treated with capecitabine.We present a case with dihydropyrimidine dehydrogenase (DPD) deficiency that manifested a variant of hand-foot syndrome (HFS). A 52-year-old man received capecitabine for adjuvant treatment of rectal cancer. On the ninth day of the first cycle, he presented to the clinic with a rash on the dorsum of both hands accompanied by symptoms of pain, erythema, swelling, and desquamation consistent with grade 3 HFS. The palms of his hands and soles of his feet were only tender with no apparent rash or discoloration. Dihydropyrimidine dehydrogenase activity was evaluated by radio assay using peripheral blood mononuclear cells. Dihydropyrimidine dehydrogenase activity was below normal: 0.12 nmol/minute/mg protein. Capecitabine was not resumed, and the rash resolved in 3 weeks with the use of pyridoxine and Udderly Smooth balm. Interestingly, HFS is rarely seen with 5-fluorouracil regimens containing selective DPD-inhibitors. This patient with DPD deficiency manifested a variant of HFS. The pharmacologic basis for the development of HFS in DPD-deficient patients warrants further investigation. dihydropyrimidine dehydrogenase deficiency, if undiagnosed, can lead to death. In addition to severe to life-threatening toxicities akin to 5-fluorouracil, capecitabine can lead to unusual variants of common toxicities, including HFS, in DPD-deficient patients.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
4/7. Cortical dysgenesis in a variant of phenylketonuria (dihydropteridine reductase deficiency).The neuropathology of a 2 1/2-year-old patient with dihydropteridine reductase deficiency showed diffuse demyelination throughout white matter and spongy vacuolation in the long tracts of the brain stem. These changes are characteristic neuropathologic observations in untreated phenylketonuria. In addition, extensive neuronal loss, calcification and abnormal vascular proliferation were noted in the cerebral cortex, white matter, basal ganglia, and thalamus. Golgi studies demonstrated an abnormal orientation of neurons together with abnormalities of dendrites and dendritic spines. The pathogenesis of the vascular abnormalities in this condition is unknown, although folate deficiency may be involved. The secondary deficiency of serotonin and dopamine occurring during neuronal growth and differentiation may also affect the terminal stages of neuronal maturation.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
5/7. Neonatal onset of medium-chain acyl-coa dehydrogenase deficiency in two siblings.Two male siblings with medium-chain acyl-coa dehydrogenase deficiency were reported, in whom the enzyme activity was essentially undetectable and the symptoms and signs, including cyanosis, apnea, low body temperature, hypoglycemia and hyperammonemia, appeared within 48 hours of life. muscle weakness and cardiomegaly in association with morphological abnormalities of mitochondria in skeletal and cardiac muscles, respectively, were found on electron microscopic examination in one of them. These observations suggest that the patients suffered from the most severe form of the disease, which has not been described in the literature.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
6/7. Acquired C1 esterase inhibitor deficiency and angioedema: a review.A case of acquired C1INH deficiency with angioedema is described. Fifteen cases are thus far recorded. The clinical syndrome of angioedema in these patients closely resembles hereditary angioedema (HAE). Most cases are associated with a paraprotein, cryoglobulin, or autoantibody, which presumably initiates C1 activation and C1 Inhibitor consumption. C1INH, C4 and C2 levels are low in acquired C1INH deficiency, as in HAE. A distinguishing feature is that C1 titers are very low in the acquired disease and only minimally depressed, if at all, in HAE. Most cases have appeared in patients with an underlying lymphoproliferative or autoimmune disease. Therapy is directed at the underlying disorder, but androgen therapy may be helpful in preventing attacks. Future potential therapeutic approaches are discussed.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
7/7. Congenital angiotensin-converting enzyme deficiency presenting as recurrent angioedema of upper airway in adult life.In summary, a rare case of congenital ACE deficiency is presented. This disorder is of concern to the otolaryngologist because the patient in question had episodes of recurrent upper airway angioedema. Management of angioedema generally consists of self-administered epinephrine because these patients respond poorly to steroids.- - - - - - - - - - ranking = 4keywords = life (Clic here for more details about this article) |