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1.
bioRxiv ; 2023 Jan 19.
Article in English | MEDLINE | ID: mdl-36711473

ABSTRACT

The Turkana people inhabit arid regions of east Africa-where temperatures are high and water is scarce-and they practice subsistence pastoralism, such that their diet is primarily composed of animal products. Working with Turkana communities, we sequenced 367 genomes and identified 8 regions putatively involved in adaptation to water stress and pastoralism. One of these regions includes a putative enhancer for STC1-a kidney-expressed gene involved in the response to dehydration and the metabolism of purine-rich foods such as red meat. We show that STC1 is induced by antidiuretic hormone in humans, is associated with urea levels in the Turkana themselves, and is under strong selection in this population (s∼0.041). This work highlights that partnerships with subsistence-level groups can lead to new models of human physiology with biomedical relevance.

2.
Meat Sci ; 70(4): 627-31, 2005 Aug.
Article in English | MEDLINE | ID: mdl-22063889

ABSTRACT

Our objective was to evaluate the antioxidant capabilities of clover (CH) and wildflower honeys (WH) in delaying lipid oxidation in cooked and reheated ground beef patties stored in refrigerated and frozen states. CH and WH (5%, 10%, or 15% w/w) were each mixed separately into ground beef chuck (18% fat) and formed into 30g patties mixed with 1% salt (w/w). A control (CON) with no honey and a control with sodium tripolyphosphate (STP; 0.25% w/w) were used for comparison. Patties were cooked to 71°C, overwrapped with oxygen-permeable PVC film and either stored refrigerated (4°C) for 12 days or frozen (-18°C) for 45 days. Cook yield, pH and water activity were measured on day 0. On designated sampling days, patties were reheated to 71°C. Thiobarbituric acid-reactive substances (TBARS) and lipid hydroperoxides (LOOH) were measured spectrophotometrically to assess lipid oxidation. TBARS and LOOH of ready-to-eat (RTE) ground beef patties containing either CH or WH were lower (P<0.01) than CON patties following storage; however, STP patties had lower TBARS values than honey-containing patties (P<0.01). WH and CH at 15% were equally effective in suppressing LOOH compared to STP in refrigerated and frozen patties. All honey concentrations improved cook yield, with 10% WH being more effective than STP. Both CH and WH delayed lipid oxidation in RTE ground beef patties stored at 4°C and -18°C, with WH decreasing LOOH formation in refrigerated patties as effectively as STP. Honey may be a natural alternative to phosphates to delay lipid oxidation.

4.
Ann Ist Super Sanita ; 34(4): 457-61, 1998.
Article in English | MEDLINE | ID: mdl-10234876

ABSTRACT

Acute idiopathic thrombocytopenic purpura (AITP) in children is generally a benign disease with a high frequency of spontaneous remission. Nevertheless the debate over treating or not is still open, because of the high risk of hemorrhage as long as the platelet count remains below 20 x 10(9)/l. We have retrospectively evaluated 120 pediatric cases from our center, receiving different treatments at diagnosis: no treatment (76); IVIG: 400 mg/kg/d for 5 days (28); continuous oral PDN: 1-1.5 mg/kg/d for at least two weeks (16). No patients had been previously treated for AITP. Follow-up is up to fifty months. We found no significant differences as to the percentage of responses among the three groups. We conclude that waiting without treatment is safe and appropriate in most cases; whether the hemorrhagic risk suggests treatment, standard dose continuous oral PDN and IVIG may be equally effective, but IVIG may achieve a significantly faster rise in the platelet count. The timing of treatment and the cost/benefit ratio are discussed.


Subject(s)
Glucocorticoids/therapeutic use , Immunoglobulins, Intravenous/therapeutic use , Prednisone/therapeutic use , Purpura, Thrombocytopenic, Idiopathic/therapy , Acute Disease , Child , Child, Preschool , Female , Humans , Infant , Male , Remission, Spontaneous , Retrospective Studies , Treatment Outcome
5.
Genes Chromosomes Cancer ; 17(2): 94-101, 1996 Oct.
Article in English | MEDLINE | ID: mdl-8913726

ABSTRACT

Three patients, with constitutional trisomy 8 mosaicism (CT8M), who developed a malignancy are reported. The diagnoses were refractory anaemia, acute lymphoblastic leukaemia, and idiopathic myelofibrosis. In the child with acute leukaemia, the CT8M was diagnosed at birth due to severe dysmorphisms and malformations; the other two patients showed a milder phenotype, and the CT8M was diagnosed only after the finding of trisomy 8 in neoplastic cells. The review of eight similar, previously reported cases and the clinical, cytogenetic, and molecular studies performed in our patients led us to make the following observations: (I) CT8M predisposes to neoplasms, preferentially to myelo- or lymphoproliferative diseases; (2) a gene dosage effect for glutathione reductase in red blood cells was seen in two of our patients; (3) the wide phenotypic variation of CT8M was confirmed: trisomy 8 in neoplastic cells of phenotypically near-normal cases may be misinterpreted as acquired; and (4) molecular studies suggested a postzygotic origin of the trisomy in our three cases, with the supernumerary chromosome being of paternal origin in one case and of maternal origin in the other two. We postulate that the trisomy 8 in neoplasms may often occur by mitotic nondisjunction in an early embryonic multipotent cell and that what is usually interpreted as an acquired trisomy 8 may in fact be CT8M. The constitutional trisomy 8 would act as a pathogenetically important first mutation in multistep carcinogenesis. Whenever trisomy 8 is found in malignancies, the patient should be reevaluated clinically to exclude CT8M, and CT8M patients should be monitored for the possible development of malignancies.


Subject(s)
Anemia, Refractory/genetics , Chromosomes, Human, Pair 8 , Hematologic Neoplasms/genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics , Primary Myelofibrosis/genetics , Trisomy , Anemia, Refractory/enzymology , Aspartic Acid Endopeptidases/genetics , Child, Preschool , Chromosomes, Human, Pair 8/genetics , Female , Fibroblasts/cytology , Glutathione Reductase/genetics , Humans , Infant , Karyotyping , Malate Dehydrogenase/genetics , Male , Mosaicism , Mutation , Polymerase Chain Reaction , Precursor Cell Lymphoblastic Leukemia-Lymphoma/enzymology , Primary Myelofibrosis/enzymology , Trisomy/genetics
6.
Cancer Genet Cytogenet ; 74(2): 144-6, 1994 Jun.
Article in English | MEDLINE | ID: mdl-8019959

ABSTRACT

Trisomy 8 is a relatively common finding in acute nonlymphoblastic leukemia (ANLL). In childhood acute lymphoblastic leukemia (ALL) it apparently is much more rare. Although Human Gene Mapping 11 included trisomy 8 as a marker for a subgroup of ALL, morphologic and immunologic characteristics of this entity have not been defined. We describe a case of early T-cell ALL (T-ALL) in a pediatric patient in whom this abnormality was the sole chromosome aberration. In situ hybridization with a chromosome 8-specific alpha-satellite DNA probe was performed. Our data are discussed and compared with pertinent literature.


Subject(s)
Chromosomes, Human, Pair 8 , Leukemia-Lymphoma, Adult T-Cell/genetics , Trisomy , Child, Preschool , Female , Humans , Immunophenotyping , In Situ Hybridization, Fluorescence
7.
Haematologica ; 77(2): 151-5, 1992.
Article in English | MEDLINE | ID: mdl-1398300

ABSTRACT

BACKGROUND AND METHODS: B-cell acute lymphoblastic leukemia (B-ALL) presents FAB L3 morphology and surface Ig, CD19, CD20, CD24. This pattern may show some morphological and immunological heterogeneity. Seventeen pediatric cases of B-ALL at onset, treated in twelve AIEOP Centers (Italian Association for Pediatric Hematology and Oncology), are presented. RESULTS AND CONCLUSIONS: Clinical and hematological features were characterized by low WBC counts at presentation, high M/F ratio, older age and association with extramedullary involvement. The overall survival curve at 78 months is 40%. All patients showed blasts positive for surface Ig (sIg), DR, CD19, and CD24. Ten/17 cases presented the classical features of B-ALL: FAB L3 morphology, sIg+ restricted to light chains, CD20+, cytoplasm mu (c mu)-, CD10-, TdT-. The remainder showed some differences in this pattern, such as non-L3 morphology (3 cases), absence of CD20 (3 cases), CD10+ (4 cases), TdT+ (3 cases), c mu+ (1 case), lack of surface light chains (1 case). This rare ALL subset seems to be characterized by a high phenotype heterogeneity, indicating various degrees of differentiation.


Subject(s)
Burkitt Lymphoma/epidemiology , Adolescent , Antigens, Neoplasm/analysis , Biomarkers, Tumor/analysis , Burkitt Lymphoma/immunology , Burkitt Lymphoma/pathology , Cell Differentiation , Child , Child, Preschool , Chromosome Aberrations , Female , Humans , Immunophenotyping , Incidence , Italy/epidemiology , Life Tables , Male , Neoplasm Proteins/analysis , Prognosis , Survival Analysis , Treatment Outcome
8.
Pediatr Med Chir ; 13(6): 639-40, 1991.
Article in Italian | MEDLINE | ID: mdl-1806925

ABSTRACT

The authors report the case of a boy, 9 years old, with a mass in the sternum and the anterior region of the mediastinum. A biopsy of the sternal mass was performed and demonstrated a Hodgkin disease variety nodular sclerosis. The disease was classified as stage III A after that two lymph nodes on the right side of the groin were revealed by lymphography. Therapy consisted of 6 alternate MOPP/ABVD cycles, followed by mantle and inverted Y field radiotherapy for a total of 25 Cg and 5 Cg booster on a sternum. During chemotherapy there was a complete regression of the disease in all sites. At present the patient is healthy and in complete remission and "off therapy", with a follow-up of 32 months. The most interesting aspect of this case is the sternum involvement as the initial manifestation of the nodular sclerosing form of Hodgkin's disease.


Subject(s)
Bone Neoplasms/diagnosis , Hodgkin Disease/diagnosis , Lymph Nodes/pathology , Sternum/pathology , Biopsy , Bone Neoplasms/pathology , Child , Hodgkin Disease/pathology , Humans , Male , Sclerosis/pathology
9.
Cancer Genet Cytogenet ; 55(2): 261-3, 1991 Sep.
Article in English | MEDLINE | ID: mdl-1933830

ABSTRACT

In this article we report a case of a 7-year-old boy affected by acute lymphoblastic leukemia of the common type. Bone marrow examination at diagnosis showed a reciprocal translocation between the long arm of chromosome 3 and the long arm of chromosome 12. This previously unpublished translocation is discussed and compared to the findings in the current literature.


Subject(s)
Chromosomes, Human, Pair 12 , Chromosomes, Human, Pair 3 , Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics , Translocation, Genetic , Child , Humans , Male
10.
Haematologica ; 76(3): 240-2, 1991.
Article in English | MEDLINE | ID: mdl-1743596

ABSTRACT

The authors report on a case of disseminated Langerhans' cell histiocytosis with a clinical presentation and a bone marrow simulating, at onset, an acute leukemia non lymphoid. A hepatic needle biopsy performed for the progressive enlargement of the liver oriented the diagnosis towards a Langerhans' cell histiocytosis. The morphological, immunohistochemical and ultrastructural study of these cells showed them to be undetermined, i.e. Langerhans' cell precursors.


Subject(s)
Histiocytosis, Langerhans-Cell/diagnosis , Langerhans Cells/pathology , Leukemia, Myeloid, Acute/diagnosis , Biopsy, Needle , Bone Marrow/pathology , Diagnosis, Differential , Female , Histiocytosis, Langerhans-Cell/pathology , Humans , Infant , Liver/pathology
12.
Appl Pathol ; 6(1): 49-55, 1988.
Article in English | MEDLINE | ID: mdl-3358873

ABSTRACT

The authors report the case of a female infant with bone marrow aplasia associated with neonatal giant-cell hepatitis. In addition to noting the exceptionality of this case, the possible interdependence of the two processes is discussed, and it is proposed that bone marrow aplasia, as in the adult, may represent a complication of viral disease (hepatitis).


Subject(s)
Anemia, Aplastic/pathology , Hepatitis/pathology , Anemia, Aplastic/complications , Bone Marrow/pathology , Female , Hepatitis/complications , Humans , Infant , Kidney/pathology , Liver/pathology , Lymph Nodes/pathology , Myocardium/pathology , Spleen/pathology
13.
Pediatr Hematol Oncol ; 5(3): 169-78, 1988.
Article in English | MEDLINE | ID: mdl-3155240

ABSTRACT

A cooperative Italian study group on acute idiopathic thrombocytopenic purpura (AITP) has been designed to evaluate efficacy and safety of no treatment at the onset of the disease and sequential treatment with immunoglobulin and high dose steroid. One hundred thirty-eight patients with AITP entered in the trial. Eleven patients were treated before the end of the waiting period because of bleeding. One hundred twenty-seven (92%) received no treatment for the first 10 days of the disease, 65 patients (51.18%) recovered spontaneously, 62 patients were treated with immunoglobulin, and 52 (83.8%) of them responded positively but only 36 (58.06%) permanently. There was no statistical difference between the results obtained with 400 mg/kg for 5 days versus 200 mg/kg. Twenty-four patients were treated with high doses of steroids, 20 (83.3%) with positive response, and 10 (41.66%) were permanently cured. Four (3.14%) of the patients enrolled in the protocol still had active disease at the end of treatment, and 10 relapsed within 4 months after the end of the treatment.


Subject(s)
Immunoglobulin G/therapeutic use , Purpura, Thrombocytopenic/therapy , Steroids/therapeutic use , Adolescent , Child , Child, Preschool , Combined Modality Therapy , Female , Humans , Immunoglobulins, Intravenous , Infant , Injections, Intravenous , Italy , Male , Recurrence
17.
Acta Vitaminol Enzymol ; 7(1-2): 55-60, 1985.
Article in English | MEDLINE | ID: mdl-4036760

ABSTRACT

In beta-thalassemic homozygotes, low plasma levels of tocopherols may induce a red blood cell (RBC) lipid peroxidation and consequent hemolysis. This is an indication to treat these patients with vitamin E. In this study 26 beta-thalassemic homozygotes aged 2-14 years, were given vitamin E, 10 orally and 16 parenterally, 300 mg per day for 15 days. Prior to administration and blood transfusion, as compared to normal subjects of the same age, plasma and RBC tocopherols were significantly lower, whereas RBC malonyldialdehyde (MDA) was significantly increased. In both groups, after tocopherol administration, an increase in plasma and RBC tocopherols and a decrease in RBC MDA were found. The significance of these variations was greater in the parenterally treated group than in orally treated group. The treatment with vitamin E, appears to be effective to reduce the RBC oxidative damage in homozygous beta-thalassemia, principally when administered parenterally perhaps because of its poor intestinal absorption in these subjects.


Subject(s)
Thalassemia/drug therapy , Vitamin E/therapeutic use , Adolescent , Blood Transfusion , Child , Child, Preschool , Erythrocytes/metabolism , Female , Hemoglobins/analysis , Homozygote , Humans , Male , Thalassemia/blood , Thalassemia/genetics , Vitamin E/blood
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