TC deficieny should be considered in differential diagnosis of infants with immunological abnormalities as well as cytopenia and neurological dysfunction. Early recognition of this rare condition and initiation of adequate treatment is critical for the disease control and better prognosis.

Objective: Transcobalamin II deficiency is a rare autosomal recessive disease characterized by decreased cobalamin availability, which in turn causes accumulation of homocysteine and methylmalonic acid. The presenting clinical features are failure to thrive, diarrhea, megaloblastic anemia, pancytopenia, neurologic abnormalities, and also recurrent infections due to immune abnormalities in early infancy. Materials and Methods: Here, we report the clinical and laboratory features of six children with transcobalamin II deficiency who were all molecularly confirmed. Results: The patients were admitted between 1 and 7 months of age with anemia or pancytopenia. Unexpectedly, one patient had a serum vitamin B12 level lower than the normal range and another one had nonsignificantly elevated serum homocysteine levels. Four patients had lymphopenia, four had neutropenia and three also had hypogammaglobulinemia. Suggesting the consideration of transcobalamin II deficiency in the differential diagnosis of immune deficiency. Hemophagocytic lymphohistiocytosis was also detected in one patient. Furthermore, two patients had vacuolization in the myeloid lineage in bone marrow aspiration, which may be an additional finding of transcobalamin II deficiency. The hematological abnormalities in all patients resolved after parenteral cobalamin treatment. In follow-up, two patients showed neurological impairments such as impaired speech and walking. Among our six patients who were all molecularly confirmed, two had the mutation that was reported in transcobalamin II-deficient patients of Turkish ancestry. Also, a novel TCN2 gene mutation was detected in one of the remaining patients. Conclusion: Transcobalamin II deficiency should be considered in the differential diagnosis of infants with immunological abnormalities as well as cytopenia and neurological dysfunction. Early recognition of this rare condition and initiation of adequate treatment is critical for control of the disease and better prognosis.

Objective: Lycopene is a carotenoid with anti-inflammatory and antioxidant properties. The aim of this study was to determine the effects of lycopene on oxidative DNA damage levels in experimental diabetic rats. Subjects and Methods: Four experimental groups, each consisting of 7 rats, were prepared as Controls, Diabetes (D), Lycopene-treated diabetes (DL) and Lycopene (L). STZ (45 mg/kg) was administered to the diabetic groups intraperitoneally in a single dose. Lycopene was administered to the L and DL groups (10 mg lycopene/kg/day). The test procedure continued for four weeks. To understand the occurrence of diabetic conditions, serum glucose and HbA1c% in the whole blood were determined. The 8-OHdG levels, a marker of oxidative DNA damage, were determined in the blood serum. Results: Blood glucose and HbA1c% were higher in the DL group than in the control group and L group (p <0.05) and lower in the D group (p <0.05). 8-OHdG levels were higher in D group than the other groups (p <0.05) while 8-OHdG levels in DL group were lower than D group (p <0.05) and approximated to the control group. Conclusion: It can be suggested that lycopene may be described as a protective agent to prevent oxidative DNA damage originated from diabetes.

Hamartoma is an extremely rare congenital malformation of the larynx. Hamartomas of the nasal cavity or nasopharynx are classified as epithelial, mesenchymal, and mixed epithelial and mesenchymal types. Presenting symptoms result from airway obstruction and may include slowly rising respiratory distress, stridor, changes in voice, eating, and activity levels. We present a 1-day-old newborn with a history of stridor and respiratory distress caused by a polypoid mass on the anterior half of the left ventricular band. We performed an excisional biopsy under direct laryngoscopy. Histopathologic finding after excisional biopsy was consistent with hamartoma. We report and discuss the pathological features and differential diagnosis of this rare laryngeal hamartoma. To our knowledge, laryngeal hamartoma presenting with stridor has not been described in the literature thus far.

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