1/51. Cutaneous bleeding related to zinc deficiency in two cases of advanced cancer.BACKGROUND: One patient with metastatic squamous cell carcinoma of the larynx and one with advanced non-Hodgkin lymphoma, both with poor nutritional status, developed ecchymoses and demonstrated prolonged bleeding time and abnormal aggregation of platelets. methods: On the basis of previous studies, the author measured the level of zinc in the serum and urine of these patients and the effect of zinc supplementation on the clinical symptoms and laboratory findings. Also studied were serum and urine zinc levels in 15 newly diagnosed, untreated cancer patients with no evidence of bleeding. RESULTS: The two patients were found to have very low serum and urine zinc levels, which were 6 and 9 microgram/dL and 28 and 22 microgram/24 hours, respectively, compared with normal average values of 70-150 microgram/dL and 150-1200 microgram/24 hours. The mean values of zinc in the serum and urine of the 15 patients newly diagnosed with cancer were 109.18 microgram/dL and 433.8 microgram/24 hours, respectively. Oral administration of zinc without any additional therapy was rapidly followed by control of bleeding, normalization of bleeding time, and platelet aggregation. Discontinuation of zinc caused the return of bleeding and abnormal laboratory findings, which again were corrected with zinc supplementation. CONCLUSIONS: Severe depletion of zinc in two patients with advanced cancer and malnutrition was accompanied by cutaneous bleeding and laboratory findings of platelet dysfunction, both of which were corrected by oral supplementation of zinc and reoccurred on discontinuing therapy. zinc deficiency should be suspected in patients with advanced cancer demonstrating bleeding when a prolonged bleeding time is the only hemostatic abnormality.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/51. zinc deficiency in total parenteral nutrition.A patient with multiple enterocutaneous fistulae who developed the skin manifestations of acrodermatitis enteropathica while on total parenteral nutrition is described. The value of monitoring the serum alkaline phosphatase to demonstrate zinc deficiency is shown. The skin manifestations responded rapidly to the re-introduction of zinc to the diet.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
3/51. Adhalin deficiency: an unusual cause of muscular dystrophy.Childhood muscular dystrophies have a wide clinical spectrum, motor disability and are variably inherited. Although the phenotype may appear similar they may represent distinct genetic entities. Advances in immunohistochemistry, gene deletion and linkage studies have enabled precise characterization. We report a family with an early onset weakness and calf pseudo hypertrophy in 2 male sibs with an usually mild course. Deletion screening was negative for 24 exons of the DMD gene in both. Muscle immunohistochemistry revealed normal dystrophin I and II staining but complete absence for adhalin, a dystrophin associated glycoprotein. Classifying them as adhalinopathy. Severe childhood autosomal recessive muscular dystrophies (SCARMD) result from mutation in the sarcoglycan complex (59). Adhalinopathy is now used to describe SCARMD. The adhalinopathy described in our patients is the first report from india.- - - - - - - - - - ranking = 0.8keywords = deficiency (Clic here for more details about this article) |
4/51. Cobalamin pseudodeficiency due to a transcobalamin I deficiency.Cobalamin (vitamin B12) deficiency warrants appropriate evaluation because cobalamin is necessary in certain biochemical functions. R-binder deficiency, which causes low cobalamin levels, is a rare and benign pseudodeficiency. If not further evaluated by determining levels of methylmalonic acid and homocysteine, however, such a patient would be given unneeded treatment. We report a case in which a patient has an R-binder deficiency, specifically transcobalamin I deficiency, with a low vitamin B12 level but no true vitamin B12 deficiency.- - - - - - - - - - ranking = 2.8keywords = deficiency (Clic here for more details about this article) |
5/51. Transtibial amputation with plantar flap for congenital deficiency of the tibia.disarticulation of the knee has been the preferred treatment for the severe type (Type Ia and Type Ib classification of Jones et al) of congenital deficiency of the tibia because of marked flexion contracture of the knee and loss of quadriceps function. In such cases, the disarticulated stump is often small and poorly covered by soft tissues because of dysplastic femoral condyles and calf muscles. Therefore, stump complications after disarticulation may prevent early aggressive walking exercises and delay independent ambulation. To overcome this problem, a greater weightbearing surface was created by a transtibial amputation with a short stump of the fibula using the flexed knee. By this method, the distal femoral condyle and the anterior surface of the fibula were used for weightbearing. In addition, coverage of the new weightbearing area by a neurovascular pedicled sensate plantar flap provided a more tolerable weightbearing site. The purpose of the current study was to report a 5-year-old boy with bilateral congenital total deficiency of both tibias, who was treated using this technique. The patient was ambulating independently 15 weeks after surgery. A transtibial amputation with a plantar flap is an alternative procedure to knee disarticulation for the severe type of congenital deficiency of the tibia.- - - - - - - - - - ranking = 1.4keywords = deficiency (Clic here for more details about this article) |
6/51. A novel mutation in neonatal isolated sulphite oxidase deficiency.Isolated sulphite oxidase deficiency (ISOD) is a very rare hereditary metabolic disorder. Imaging findings of the neonatal form of ISOD, including multicystic leukoencephalopathy with brain atrophy, resemble those of severe ischemic changes of the brain. We report the case of a ten-month-old boy who exhibited neonatal seizures on the 24th day after birth. Excessive quantities of sulphite and S-sulphocysteine in the urine and normal blood uric acid were noted. These findings were consistent with those of ISOD. Point mutations were found in two alleles of the sulphite oxidase (SUOX) gene. One of the mutations was a 1029 C > G mutation, which resulted in an amino acid substitution of tyrosine to a stop code (Y343 X); and the other was a 479 G > A mutation, which resulted in an amino acid substitution of arginine to glutamine (R160 Q). Y343 X is a novel SUOX gene mutation. A review of the literature, including data from this report, showed that 3 of 6 cases had typical imaging findings characterized by initial cerebral edema followed by dramatic multicystic leukoencephalopathy. We emphasize that neonatal ISOD should be included in the differential diagnosis of neonates with unexplained hypoxic-ischemic changes on neuroimaging studies.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
7/51. Menkes' kinky hair disease: a light and electron microscopic study of the eye.light and electron microscopic studies of the ocular tissue of a case of Menkes' kinky hair disease are described. The copper deficiency responsible for this systemic and neurologic disease appears to cause a progressive degeneration of retinal ganglion cells, loss of nerve fibers, and optic atrophy. The pigment epithelium is also abnormal with only small and irregular melanin granules present among electron-dense inclusion bodies. Abnormal elastica is present in Bruch's membrane.- - - - - - - - - - ranking = 0.2keywords = deficiency (Clic here for more details about this article) |
8/51. selenium deficiency in a patient with Crohn's disease receiving long-term total parenteral nutrition.We report a case of selenium deficiency in a patient with Crohn's disease on long-term total parenteral nutrition (TPN). She manifested lassitude of the legs, discoloration of the nail beds, and macrocytosis. Since her plasma selenium level was found to be below the measurable level, we diagnosed this case as selenium deficiency. After intravenous administration of sodium selenite, her symptoms were reversed. Careful attention should be paid to selenium deficiency when a patient receives long-term TPN; supplementary administration of selenium via TPN may be required because selenium is often not routinely added to TPN formulations.- - - - - - - - - - ranking = 1.4keywords = deficiency (Clic here for more details about this article) |
9/51. Lethal neonatal carnitine palmitoyltransferase II deficiency: an unusual presentation of a rare disorder.A term male newborn, appropriate for gestational age, developed hypothermia, severe cardiac dysrrhythmia, and nonoliguric hyperkalemia within 24 hours of birth. Despite the prenatal identification of cystic renal dysplasia without oligohydramnios, at birth, a solitary left leg vascular hemangioma and large palpable kidneys were the only anomalies. Gradually hypotonia, lethargy, and poor feeding developed and by 20 hours of age recurrent cardiac dysrrhythmias, myocardial dysfunction, and renal insufficiency with intermittent hyperkalemia were apparent. Episodes of apnea developed on day 7 followed by respiratory failure, recurrent cardiac dysrrhythmias, and death on day 12. Eventually laboratory and autopsy findings confirmed the diagnosis of lethal neonatal carnitine palmitoyltransferase II deficiency.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
10/51. Recurrent mutations of the apolipoprotein a-i gene in three kindreds with severe HDL deficiency.Two siblings with high density lipoprotein (HDL) deficiency and no plasma apolipoprotein a-i (Apo A-I) were found to be homozygous for a cytosine deletion in exon 3 of Apo A-I gene (c.85 del C, Q5FsX11). This mutation causes a frameshift leading to a premature stop codon and abolishes the synthesis of Apo A-I. Although both siblings had corneal opacifications and planar xanthomas, only one of them had premature coronary artery disease, probably as the result of mildly elevated LDL levels. In two other unrelated subjects HDL deficiency was due to heterozygosity for a nucleotide substitution in exon 4 of Apo A-I gene (c.494 T>G, L141R). Both Apo A-I mutations were reported previously in an Italian kindred which included compound heterozygotes and simple heterozygotes. We investigated all carriers of these mutations in the three kindreds and in the one previously reported. plasma Apo A-I and HDL-C levels were lower in the mutation carriers than in non-carrier family members. These levels, however, were lower in L141R carriers than in carriers of c.85 del C. Haplotype analysis performed using several polymorphisms suggested that both the c.85 del C and L141R are likely to be recurrent mutations.- - - - - - - - - - ranking = 1.2keywords = deficiency (Clic here for more details about this article) |
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