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The authors describe the case of a five-day-old newborn affected by atopic dermatitis presenting with hand-foot-and-mouth disease that extended to the face and trunk (eczema coxsackium).

Objective Transient neonatal diabetes mellitus (TNDM) is caused by activating mutations in ABCC8 and KCNJ11 genes (KATP/TNDM) or by chromosome 6q24 abnormalities (6q24/TNDM). We wanted to assess whether these different genetic aetiologies result in distinct clinical features. Design Retrospective analysis of the Italian data set of patients with TNDM. Methods Clinical features and treatment of 22 KATP/TNDM patients and 12 6q24/TNDM patients were compared. Results Fourteen KATP/TNDM probands had a carrier parent with abnormal glucose values, four patients with 6q24 showed macroglossia and/or umbilical hernia. Median age at diabetes onset and birth weight were lower in patients with 6q24 (1 week; −2.27 SD) than those with KATP mutations (4.0 weeks; −1.04 SD) (P = 0.009 and P = 0.007, respectively). Median time to remission was longer in KATP/TNDM than 6q24/TNDM (21.5 weeks vs 12 weeks) (P = 0.002). Two KATP/TNDM patients entered diabetes remission without pharmacological therapy. A proband with the ABCC8/L225P variant previously associated with permanent neonatal diabetes entered 7-year long remission after 1 year of sulfonylurea therapy. Seven diabetic individuals with KATP mutations were successfully treated with sulfonylurea monotherapy; four cases with relapsing 6q24/TNDM were treated with insulin, metformin or combination therapy. Conclusions If TNDM is suspected, KATP genes should be analyzed first with the exception of patients with macroglossia and/or umbilical hernia. Remission of diabetes without pharmacological therapy should not preclude genetic analysis. Early treatment with sulfonylurea may induce long-lasting remission of diabetes in patients with KATP mutations associated with PNDM. Adult patients carrying KATP/TNDM mutations respond favourably to sulfonylurea monotherapy.

A best evidence topic in cardiac surgery was written according to a structured protocol. The question addressed was: 'In patients with sewing needle cardiac injuries is the surgical approach the recommended treatment?' The scientific literature was reviewed by searching Medline, using Ovid interface, from 1950 to August 2009. Six hundred and twenty-six papers were found, of which 24 were deemed relevant to this topic. The authors, journal, date and country of publication, patient group studied, study type, relevant outcomes and results of these papers were tabulated. The cause of injury may delay the timing of presentation the diagnosis and consequently the therapeutic strategy. In nearly all the cases in the reviewed papers the authors surgically removed the needle from the heart. However, out of the 24 papers, four patients had a conservative treatment. Most of the authors recommend early removal of the needle to prevent migration and further anatomical damage. The early surgical removal of foreign bodies in the heart is considered an effective approach to prevent complications. The heart is more vulnerable to serious injuries when the foreign body is extracardiac than when the foreign body is completely intracardiac. The unceasing motion of the heart against the sharp point of the fixed foreign body will result in repetitive wounding with bleeding and consequent cardiac tamponade. Due to the tendency of the needle to migrate, the preoperative use of computer tomography scan, trans-thoracic and trans-oesophageal echocardiography have been advocated to locate the exact position of the needle and its correlation with the surrounding tissues. The intraoperative use of epicardial ultrasound or fluoroscopy is also recommended. However, in cases of late diagnosis, in previously untreated patients, treatment can be individualized. If the symptoms are less severe it is reasonable to adopt a conservative approach as with time most foreign bodies become safely encysted and do no harm. Patients can remain asymptomatic for many years. However, they may present many years later with complications such as pericarditis, tamponade or endocarditis. Strict follow-up is useful in those patients.

The forms and severity of cardiac complications were investigated in patients with asymptomatic thalassemia intermedia and thalassemia major by M‐mode, bi‐dimensional echocardiography (ECHO) and echo‐Doppler. Twenty‐eight patients of both sexes with β‐thalassemia intermedia (β‐TI), mean age 23.2 ± 6.3 years, untransfused or minimally transfused, were compared to 42 age‐ and sex‐matched subjects with thalassemia major, who were regularly treated with hemotransfusive therapy [pre‐transfusion hemoglobin (Hb) values 9.5 ± 0.9 g/dL] and iron chelation. All patients were splenectomized. Age and sex matched healthy control subjects were randomly selected. β‐Thalassemia major (β‐TM) patients showed a marked reduction in contractile state and a milder left ventricular (LV) enlargement than β‐TI patients. Cardiac output (CO) and cardiac index (CI) were increased in both groups of patients but appeared significantly higher in β‐TI patients with consequent altered LV diastolic function indices. In addition, β‐TI pati...

Sixty‐seven homozygous male and female thalassemic patients with different phenotypes, aged between 8 and 33 years, were divided into three groups, according to the severity of their β‐thalassemia (thal) mutations. We investigated whether some co‐inherited genetic factors could influence the phenotype. Patients with milder β‐thal defects, homozygotes or compound heterozygotes for the IVS‐I‐6 (T→C) or −87 (C→G) mutations had a milder disease. In addition, determination of the co‐inheritance of the −158 (C→T) Gγ polymorphism and the (AT)9T5 repeat motif in the region −540 to −525, 5′ to the β‐globin gene, showed that in some patients with severe or mild/severe β‐thal mutations, linked to haplotype III, there was higher Hb F expression. We conclude that in homozygous β‐thal patients, the severity of the mutations is the most important factor influencing the phenotype, but some polymorphisms such as the −158 (C→T) Gγ and (AT)9T5 repeat motif, increasing the Hb F expression and ameliorate the clinical course o...

The forms and severity of cardiac complications were investigated in patients with asymptomatic thalassemia intermedia and thalassemia major by M-mode, bi-dimensional echocardiography (ECHO) and echo-Doppler. Twenty-eight patients of both sexes with beta-thalassemia intermedia (beta-TI), mean age 23.2 +/- 6.3 years, untransfused or minimally transfused, were compared to 42 age- and sex-matched subjects with thalassemia major, who were regularly treated with hemotransfusive therapy [pre-transfusion hemoglobin (Hb) values 9.5 +/- 0.9 g/dL] and iron chelation. All patients were splenectomized. Age and sex matched healthy control subjects were randomly selected. beta-Thalassemia major (beta-TM) patients showed a marked reduction in contractile state and a milder left ventricular (LV) enlargement than beta-TI patients. Cardiac output (CO) and cardiac index (CI) were increased in both groups of patients but appeared significantly higher in beta-TI patients with consequent altered LV diastolic function indices. In addition, beta-TI patients had reduced indices of pulmonary artery flow related to long-term chronic anemia rather than iron overload. The progressive rise in CO and CI casts doubts on the current management of beta-TI syndromes.

Sixty-seven homozygous male and female thalassemic patients with different phenotypes, aged between 8 and 33 years, were divided into three groups, according to the severity of their beta-thalassemia (thal) mutations. We investigated whether some co-inherited genetic factors could influence the phenotype. Patients with milder beta-thal defects, homozygotes or compound heterozygotes for the IVS-I-6 (T--C) or -87 (C--G) mutations had a milder disease. In addition, determination of the co-inheritance of the -158 (C--T) G(gamma) polymorphism and the (AT)9T5 repeat motif in the region -540 to -525, 5' to the beta-globin gene, showed that in some patients with severe or mild/severe beta-thal mutations, linked to haplotype III, there was higher Hb F expression. We conclude that in homozygous beta-thal patients, the severity of the mutations is the most important factor influencing the phenotype, but some polymorphisms such as the -158 (C--T) G(gamma) and (AT)9T5 repeat motif, increasing the Hb F expression and ameliorate the clinical course of the disease.

We have read with great interest the article by Chakera et al. (1) describing two cases of gestational diabetes mellitus due to a mutation in the glucokinase ( GCK ) gene. As a result of antenatal genetic testing, the fetuses had inherited the GCK mutation. Neither fetuses nor mothers received insulin treatment for established maternal hyperglycemia in the third trimester, and the children had a normal birth weight and no metabolic complications. The data of Chakera et al. seemed to confirm our published theory; therefore, a nonmutated GCK child from a maturity-onset diabetes of the young type 2 (MODY2+) mother may have the same complications as a diabetic mother's son and, in this …