Acute hepatitis in a child heterozygous for the I259V MEFV gene variant.

Familial Mediterranean Fever (FMF) is a systemic auto-inflammatory disease characterized by recurrent episodes of fever accompanied by synovial, serosal and/or cutaneous inflammation. Liver involvement has been described mainly in patients with paired FMF gene mutations, i.e. involving both alleles, and rarely in patients heterozygous for FMF mutations. These patients may present with acute or chronic hepatitis, with or without liver failure. Non-alcoholic hepatitis, mild hyperbilirubinemia, and elevation of liver enzymes of unknown etiology should also raise suspicion of FMF. Patients with FMF and liver involvement usually respond to colchicine medication. The mutation I259V (c.775A MEFV gene has not been reported in FMF patients with liver involvement. Furthermore, among several MEFV gene variants, it has been reported so far in only one heterozygous FMF patient of Turkish ancestry presenting with abdominal pain without any hepatic complication. Herein, the second case of a FMF patient heterozygous for the above mentioned mutation is discussed. It is a male child with FMF clinical phenotype which presented two consecutively episodes of acute hepatitis during fever attacks, that spontaneously resolved. Therapeutic trial with colchicine was successful, since no other fever attacks and acute hepatitis episodes were noticed.

Flow cytometric analysis of the CD4+ TCR Vß repertoire in the peripheral blood of children with type 1 diabetes mellitus, systemic lupus erythematosus and age-matched healthy controls.

BACKGROUND: Data regarding the quantitative expression of TCR Vß subpopulations in children with autoimmune diseases provided interesting and sometimes conflicting results. The aim of the present study was to assess by comparative flow cytometric analysis the peripheral blood CD4+ TCR Vß repertoire of children with an organ-specific autoimmune disorder, such as type 1 diabetes mellitus (T1DM), in comparison to children with a systemic autoimmune disease, such as Systemic Lupus Erythematosus (SLE) in comparison to healthy age-matched controls of the same ethnic origin. The CD4+ TCR Vß repertoire was analysed by flow cytometry in three groups of participants: a) fifteen newly diagnosed children with T1DM (mean age: 9.2 ± 4.78 years old), b) nine newly diagnosed children with SLE, positive for ANA and anti-dsDNA, prior to treatment (mean age: 12.8 ±1.76 years old) and c) 31 healthy age-matched controls (mean age: 6.58 ± 3.65 years old), all of Hellenic origin. RESULTS: CD4 + TCR Vß abnormalities (± 3SD of controls) were observed mainly in SLE patients. Statistical analysis revealed that the CD4 + Vß4 chain was significantly increased in patients with T1DM (p < 0.001), whereas CD4 + Vß16 one was significantly increased in SLE patients (p < 0.001) compared to controls. CONCLUSIONS: CD4 + Vß4 and CD4 + Vß16 chains could be possibly involved in the cascade of events precipitating the pathogenesis of T1DM and SLE in children, respectively.

Non-inferiority of liquid thyroxine in comparison to tablets formulation in the treatment of children with congenital hypothyroidism.

OBJECTIVES: The aim of the current prospective randomized control study was to assess efficacy, safety, and non-inferiority of a new liquid L-thyroxine formulation dissolved in glycerol and water (T4® drops, produced by a Greek pharmaceutical Company, Uni-Pharma, Athens, Greece) in comparison to the standard Tablets form (T4® tablets, Uni-Pharma, Athens, Greece) in the substitutive treatment of children with congenital hypothyroidism (CH). METHODS: Thirty-nine children with CH, aged 3-12 years old, were enrolled in the study, after parental Informed Consent has been obtained, while three patients were lost from follow-up. At baseline, all participants had normal thyroid-stimulating hormone (TSH) and Free T4 values. Patients were randomly subdivided according to the assigned treatment in Group A (n=17)-Tablet Form and Group B (n=19)-Liquid Form. TSH and Free T4 levels were evaluated at 0, 2, 4, and 6 months. RESULTS: TSH values showed a statistically significant difference (p=0.017) between groups only at six months (Group A having higher TSH levels than Group B, albeit within the normal range), while Free T4 levels had no statistical difference throughout the six month study period and were always within the normal range. Moreover, dose adjustments were more frequent in Group A (p=0.038) during the six months. Liquid L-thyroxine substitutive treatment exhibited no statistically significant adverse effects in comparison to the widely used tablets. CONCLUSIONS: Levothyroxine (LT4) as liquid solution formulation is safe and noninferior to the widely used L-thyroxine Tablets, with less need for dose adjustment, and can therefore be safely used in the treatment of children with CH.

Non-alcoholic fatty liver infiltration in children: an underdiagnosed evolving disease.

Non-alcoholic fatty liver disease (NAFLD) constitutes the most common liver disease, one that is still underdiagnosed in pediatric populations (as well as in the general population), this due to the progressive increase in childhood obesity observed both in developed and developing countries during the last few decades. The pathophysiology of the disease has not been thoroughly clarified yet. The condition displays common pathways in adults and children; however, there are age-related differences. Unlike adults, children with NAFLD require extensive laboratory analysis, because underlying pathologies other than obesity may contribute to the evolution of the disease. Despite the presence of several serum markers and imaging techniques that contribute to NAFLD diagnosis, liver biopsy remains the gold standard diagnostic procedure. Early intervention and obesity prevention are mandatory, as NAFLD is reversible at an early stage. If left undiagnosed and untreated, NAFLD can progress to steatohepatitis (NASH) and subsequent liver failure, a potentially lethal complication. Of note, there are no treatment options when advanced liver fibrosis occurs. This review summarizes literature data on NAFLD in childhood indicating that this is an evolving disease and a significant component of the metabolic syndrome. Pediatricians should be aware of this entity, screening children at high risk and providing appropriate early management, in collaboration with pediatric subspecialists.

Soy- and rice-based formula and infant allergic to cow's milk.

Soy milk formula has limited medical indications for infants feeding, although in several parts of the world it has been used as a source of nutrition in a large number of children. It used to be the main alternative feeding for infants allergic to cow's milk who did not breastfeed before the introduction of extensively hydrolyzed formulas. Although there is a debate, the fact that some children are allergic to soy or some children with cow's milk allergy can present with concomitant soy allergy, restricted the use of soy formulas for treatment of infants allergic to cow's milk. Other grain-based formulas like the rice-based ones are promising in infants with cow's milk allergy. Grain-based formulas could be an alternative and cheaper way of nutrition for infants allergic to cow's milk than extensively hydrolyzed formulas. Further large scale longitudinal clinical studies are required to clarify the safety of soy and other grain-based formulas for treatment of cow's milk allergy.

The Role of BCL2 Family of Apoptosis Regulator Proteins in Acute and Chronic Leukemias.

The disturbance of apoptosis molecular signaling pathways is involved in carcinogenesis. BCL2 family of proteins is the hallmark of apoptosis regulation. In the last decade, new members of BCL2 gene family were discovered and cloned and were found to be differentially expressed in many types of cancer. BCL2 protein family, through its role in regulation of apoptotic pathways, is possibly related to cancer pathophysiology and resistance to conventional chemotherapy. It is well known that leukemias are haematopoietic malignancies characterized by biological diversity, varied cytogenetics, different immunophenotype profiles, and diverse outcome. Current research focuses on the prognostic impact and specific role of these proteins in the pathogenesis of leukemias. The understanding of the molecular pathways that participate in the biology of leukemias may lead to the design of new therapies which may improve patients' survival. In the present paper, we describe current knowledge on the role of BCL2 apoptosis regulator proteins in acute and chronic leukemias.

Congenital cataracts, facial dysmorphism, and neuropathy syndrome.

Congenital cataracts, facial dysmorphism, and neuropathy syndrome is a delineated genetic disease exclusively manifested in the Roma population. The pattern of inheritance is autosomal recessive, and a causative mutation is evident in the CTDP1 gene. Affected patients display congenital cataracts, microcornea, peripheral neuropathy, mild facial dysmorphism, hypogonadism, and psychomotor delay. We present the second case of this syndrome in a Greek Roma family, diagnosed in early infancy, along with the prenatal diagnosis in a subsequent pregnancy.