Mild hyperhomocysteinemia: vitamin supplementation or not?

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High Incidence of Childhood Type 1 Diabetes in Liguria, Italy, From 1989 to 1998

OBJECTIVE—Assessing updated incidence of type 1 diabetes in 0- to 14-year-old children in Liguria, a Northwest region of Italy. RESEARCH DESIGN AND METHODS—Incident cases were recorded prospectively from 1989 to 1998. Incidence rates (IRs) were standardized to the 1999 world population using the direct method. The independent effect of sex, age, residence, and calendar year was estimated with Poisson regression model. The degree of ascertainment was calculated in accordance to capture/recapture method. RESULTS—During 10 full calendar years, 219 new cases of type 1 diabetes in children were diagnosed in Liguria. The standardized IR over the 10-year period was 12.56 cases per 100,000 per year (95% CI 11.0–14.3). The sex-specific IR among men and women was 14.15 and 10.88, respectively. The age-specific IR was higher in the 10- to 14-year-old age-group (15.01/100,000) than in 0- to 4-year-old age-group (9.01/100,000) and in the 5- to 9-year-old age-group (13.03/100,000). CONCLUSIONS—The IR of type 1 diabetes in Liguria is among the highest in Southern Europe and approaches IRs of Northern European countries. In particular it is much higher than those reported in the surrounding Italian regions except for Sardinia. Therefore, the geographical distribution of type 1 diabetes does not seem to reflect the simple North-South gradient reported in several previous works

Neonatal diabetes mellitus due to pancreatic agenesis and pervasive developmental disorder

Recent studies suggested a link between type 1 diabetes mellitus and pervasive developmental disorder. Moreover, permanent neonatal diabetes mellitus due to pancreatic agenesis can be associated with neurological deficit involving cerebellar functions, but no association with pervasive developmental disorder has been described so far. Clinical and neuropsychological evaluation of a child with pancreatic agenesis, mental retardation and pervasive developmental disorder is reported

Amyand's hernia in a child with permanent neonatal diabetes due to pancreatic agenesis

Acute or perforated appendicitis within inguinal hernia is rarely encountered and it is known as Amyand's hernia. We report on the first case occurring in a 4-year-old boy affected by permanent neonatal diabetes mellitus due to pancreatic agenesis, an extremely rare condition. The initial suspicion of inguinal hernia was confirmed by ultrasound examination of the right inguinal region which revealed omental layers inside a swollen inguinal canal; this finding and the clinical presentation allowed a prompt and appropriate surgical management. The careful evaluation of this patient and early recognition of this unique presentation of appendicitis allowed trans-hernial appendectomy and immediate herniorrhaphy. Ultrasonography played a pivotal role to reach the correct diagnosis and to start a prompt treatment

Younger age at onset and sex predict celiac disease in children and adolescents with type 1 diabetes. An Italian multicenter study

WSTĘP. Celem badania była ocena chorobowości w przypadku, potwierdzonej w biopsji, choroby trzewnej u włoskich dzieci i młodzieży, chorych na cukrzycę typu 1 oraz określenie zależności między wiekiem, w którym ujawniła się cukrzyca typu 1, a rozpoznaniem choroby trzewnej. MATERIAŁ I METODY. Badanie obejmowało grupę kliniczną dzieci i młodzieży w okresie dojrzewania, chorych na cukrzycę typu 1, leczonych w 25 ośrodkach we Włoszech. Co roku wykonywano u nich badania przesiewowe w kierunku celiakii, przy użyciu przeciwciał przeciwgliadynowych IgA/IgG i przeciwciał IgA przeciwko endomysium. WYNIKI. Potwierdzoną w biopsji chorobę trzewną stwierdzono u 292 z 4322 dzieci i młodzieży [chorobowość 6,8%, 95-procentowy przedział ufności (CI, confidendial interval) 6,0-7,6]; ryzyko wystąpienia choroby trzewnej było wyższe u dziewcząt niż u chłopców [współczynnik ryzyka (OR, odds ratio) 1,93; 1,51-2,47]. W 89% przypadków cukrzycę rozpoznano przed ujawnieniem się choroby trzewnej. Analiza regresji logistycznej wykazała, że młody wiek, płeć żeńska i zaburzenia czynności tarczycy były niezależnie związane z ryzykiem zachorowania na cukrzycę lub chorobę trzewną. W porównaniu z osobami, u których cukrzyca ujawniła się powyżej 9. roku życia, u osób, u których początek choroby wystąpił poniżej 4. roku życia, OR wynosił 3,27 (2,20-4,85). WNIOSKI. W niniejszej pracy wykazano, że: 1) chorobowość w przypadku potwierdzonej biopsją choroby trzewnej u dzieci i młodzieży jest wysoka (6,8%); 2) ryzyko wystąpienia obu schorzeń jest 3-krotnie wyższe u dzieci i młodzieży z cukrzycą typu 1, u których ujawniła się ona przed ukończeniem 4. roku życia niż w przypadku, kiedy początek choroby wystąpił powyżej 9. roku życia; 3) ryzyko wystąpienia obu schorzeń u dziewcząt jest wyższe niż u chłopców.INTRODUCTION. To estimate the prevalence of biopsy- confirmed celiac disease in Italian children and adolescents with type 1 diabetes and to assess whether age at onset of type 1 diabetes is independently associated with diagnosis of celiac disease. MATERIAL AND METHODS. The study group was a clinic-based cohort of children and adolescents with type 1 diabetes cared for in 25 Italian centers for childhood diabetes. Yearly screening for celiac disease was performed using IgA/IgG anti-gliadin and IgA anti-endomysium antibodies. RESULTS. Of the 4,322 children and adolescents (age 11.8 ± 4.2 years) identified with type 1 diabetes, biopsy-confirmed celiac disease was diagnosed in 292 (prevalence 6.8%, 95% confidence interval [CI] 6.0–7.6), with a higher risk seen in girls than in boys (odds ratio [OR] 1.93, 1.51–2.47). In 89% of these, diabetes was diagnosed before celiac disease. In logistic regression analyses, being younger at onset of diabetes, being female, and having a diagnosis of a thyroid disorder were independently associated with the risk of having diabetes and celiac disease. In comparison with subjects who were older than 9 years at onset of diabetes, subjects who were younger than 4 years at onset had an OR of 3.27 (2.20–4.85). CONCLUSIONS. We have provided evidence that 1) the prevalence of biopsy-confirmed celiac disease in children and adolescents with type 1 diabetes is high (6.8%); 2) the risk of having both diseases is threefold higher in children diagnosed with type 1 diabetes at age 9 years; and 3) girls have a higher risk of having both diseases than boys

Wolfram Syndrome: New Mutations, Different Phenotype

BACKGROUND: Wolfram Syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness identified by the acronym "DIDMOAD". The WS gene, WFS1, encodes a transmembrane protein called Wolframin, which recent evidence suggests may serve as a novel endoplasmic reticulum calcium channel in pancreatic β-cells and neurons. WS is a rare disease, with an estimated prevalence of 1/550.000 children, with a carrier frequency of 1/354. The aim of our study was to determine the genotype of WS patients in order to establish a genotype/phenotype correlation. METHODOLOGY/PRINCIPAL FINDINGS: We clinically evaluated 9 young patients from 9 unrelated families (6 males, 3 females). Basic criteria for WS clinical diagnosis were coexistence of insulin-treated diabetes mellitus and optic atrophy occurring before 15 years of age. Genetic analysis for WFS1 was performed by direct sequencing. Molecular sequencing revealed 5 heterozygous compound and 3 homozygous mutations. All of them were located in exon 8, except one in exon 4. In one proband only an heterozygous mutation (A684V) was found. Two new variants c.2663 C>A and c.1381 A>C were detected. CONCLUSIONS/SIGNIFICANCE: Our study increases the spectrum of WFS1 mutations with two novel variants. The male patient carrying the compound mutation [c.1060_1062delTTC]+[c.2663 C>A] showed the most severe phenotype: diabetes mellitus, optic atrophy (visual acuity 5/10), deafness with deep auditory bilaterally 8000 Hz, diabetes insipidus associated to reduced volume of posterior pituitary and pons. He died in bed at the age of 13 years. The other patient carrying the compound mutation [c.409_424dup16]+[c.1381 A>C] showed a less severe phenotype (DM, OA)