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- Jacobs, An, et al.
(författare)
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Pigmented Hypertrichosis with Insulin-Dependent Diabetes Mellitus Syndrome: A Case Series
- 2024
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Ingår i: HORMONE RESEARCH IN PAEDIATRICS. - 1663-2818 .- 1663-2826.
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID) syndrome is a rare disease, and part of the cluster histiocytosis-lymphadenopathy plus syndrome (H syndrome), which is associated with mutations in the SLC29A3 gene. Patients with PHID show clinical features of H syndrome but also have insulin-dependent diabetes mellitus. The PHID has previously been described as predominantly in absence of pancreatic autoantibodies. Case Series Presentation: Through an open call in two international diabetes registers, clinical and genetic characteristics of 7 PHID patients in 6 treatment centres were collected after informed consent. All of them had consanguinity in their families, and their origins were located in North-African and Middle Eastern regions. Four out of 7 patients had at least one positive pancreatic autoantibody. Discussion and Conclusion: Our case series reveals that PHID exhibits a wide range of clinical symptoms and signs. When consanguinity is present in a patient with newly diagnosed diabetes, and/or if other atypical symptoms such as dysmorphic features, skin lesions, haematological abnormalities, and developmental delay are present, threshold for genetic analysis should be low. Moreover, the presence of autoantibodies should not withhold genetic testing as our case series contradicts the previous observation of predominant autoantibody absence in PHID. Established FactsHistiocytosis-lymphadenopathy plus syndrome (H syndrome) comprises a cluster of diseases associated with gene mutations.SLC29A3Pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID) syndrome is a rare disease and part of the H syndrome cluster.Patients with PHID syndrome have clinical features of H syndrome and predominantly autoantibody-negative diabetes, as it has previously been described.
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- Pundziute-Lyckå, Auste, et al.
(författare)
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Diet, growth, and the risk for type 1 diabetes in childhood : a matched case-referent study.
- 2004
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Ingår i: Diabetes Care. - : American Diabetes Association. - 0149-5992 .- 1935-5548. ; 27:12, s. 2784-9
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To study the association between type 1 diabetes risk and previous intake of energy, accounting for body size and previous intake of nutrients and foods, accounting for the energy intake. RESEARCH DESIGN AND METHODS: We conducted an incident population-based case-referent study in Stockholm, Sweden, including 99 of 100 eligible 7- to 14-year-old diabetic children and 180 of 200 age-, sex-, and area-matched referent children identified through the Swedish population register. Average daily energy and nutrient intake 1 year before diabetes diagnosis/interview was estimated using the food frequency questionnaire with assessment of consumed food amounts. Mean SD scores of growth measurements taken during the last 4 years before the diagnosis were used. Odds ratios (ORs) were calculated by conditional logistic regression. RESULTS: Average intake of energy, carbohydrate, fat, and protein was significantly higher among the case subjects as well as mean weight-for-age SD score. Higher energy intake and weight-for-age were both associated with increased diabetes risk after adjustment for each other: OR (95% CI) for medium and high levels of energy intake were 1.33 (0.52-3.42) and 5.23 (1.67-16.38), respectively, and for weight-for-age were 3.20 (1.30-7.88) and 3.09 (1.16-8.22), respectively. High intake of carbohydrates, especially disaccharides and sucrose, increased diabetes risk. CONCLUSIONS: Higher energy intake and larger body size were independently associated with increased diabetes risk. Of the different nutrients, higher intake of carbohydrates, particularly disaccharides and sucrose, increased the risk. Lifestyle habits leading to higher energy intake and more rapid growth in childhood may contribute to the increase of childhood-onset type 1 diabetes by different mechanisms.
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- Pundziute-Lyckå, Auste, 1968-
(författare)
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Incidence trends and environmental determinants of type 1 diabetes in Lithuania and Sweden
- 2003
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Variation of diabetes incidence over time in countries with different incidence levels and socio-economic conditions, and in an age span beyond the childhood years, may give clues for diabetes causes.Materials: Data from prospective type 1 diabetes registers in Sweden and Lithuania in children (0-14 years) and young adults (15-34 and 15-39 years, respectively). Number of infections recorded in health care booklets (117 cases; 270 controls); interview about the dietary intake one-year before the diagnosis and routinely recorded growth data (99 cases; 180 controls).Results: The incidence of type 1 diabetes in Sweden and Lithuania differed most in the younger age groups, 28.9 and 7.5/100,000/year in 0-14-year group, respectively. During 1983-2000 incidence increased in 0-14-year old children in both countries, but the pattern of change differed. During 1983-1998 the incidence increased in Swedish children, but tended to decrease in young adults, with no increase in the age group below 35 years, indicating that the increase of childhood diabetes may be due to a shift towards a younger age at diagnosis. Within a low-incidence country Lithuania there was an urban-rural gradient of incidence, especially in the younger age groups, that seemed to follow poverty distribution: incidence in the 0-39-year group was 7.1, 9.0 and 8.8/100,000/year in rural areas, towns and cities, respectively, p<0.001.Exposure to one or more non-specific infection during the first half-year of life reduced diabetes risk: odds ratios (95%-CI) in 0-14 and 5-14-year groups were (0.60; 0.37-0.98) and (0.47; 0.26-0.87), respectively. Higher energy intake and weight-for-age were independent diabetes risk factors: odds ratios for medium and high levels of energy were 1.33 (0.52-3.42) and 5.23 (1.67-16.38), and for weight-for-age 3.20 (1.30-7.88) and 3.09 (1.16-8.22), respectively. High intake of carbohydrates, disaccharides and sucrose in particular, increased diabetes risk independently of the high intake of energy.Conclusion: Environmental factors associated with socio-economic conditions in childhood may be important for the occurrence of type 1 diabetes. Lack of exposure to microbial antigens early in life, higher intake of energy and more rapid growth may contribute to the increase of childhood-onset diabetes observed in many countries.
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- Pundziūte-Lyckå, Auste, et al.
(författare)
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Time trend of childhood type 1 diabetes incidence in Lithuania and Sweden, 1983-2000
- 2004
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Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 93:11, s. 1519-1524
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Tidskriftsartikel (refereegranskat)abstract
- AIM: To compare the time trend of childhood type 1 diabetes over an 18-y period in Lithuania and Sweden--countries with different incidence levels and different socio-economic conditions. METHODS: Percent average incidence change per year between 1983 and 2000, based on 8031 Swedish and 1100 Lithuanian cases in the age group 0-14 y, was calculated using Poisson regression. RESULTS: Average age- and sex-standardized incidence/100 000/y was 28.9 (95% CI: 28.2-29.5) in Sweden and 7.5 (95% CI: 7.1-8.0) in Lithuania. Between 1983 and 2000, the average increase per year was 2.2% in Sweden (95% CI: 1.7-2.6) and 2.3% in Lithuania (95% CI: 1.1-3.5), but the latter trend depended on an increase during the last few years of the period, and only for girls. In Sweden, incidence increased significantly in all age groups, but more so in the younger groups (3.0%, 2.2% and 1.7% per year in 0-4, 5-9 and 10-14-y age groups, respectively), while in Lithuania a significant increase was found only in the 10-14-y age group (3.0%). In Sweden, a trend towards a younger age at diagnosis was indicated for both boys and girls when comparing 1983-1991 and 1992-2000, whereas in Lithuania, the changes in age distribution over time were small, with an opposite tendency for boys. CONCLUSION: Incidence variability over time differed considerably in the two countries in the region of the Baltic Sea, suggesting a complex effect of environmental risk factors, some of which may be associated with wealth and socio-economic conditions.
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