Disappearance of cerebral cortical atrophy following replacement therapy with vitamin B12 in an infant

Vitamin B12 (cobalamin) deficiency during infancy is seen most commonly in exclusively breast-fed infants born to mothers with inadequate vitamin B12 stores. In addition to megaoblastic anemia, physical, social and neuromotor retardation may be seen in affected patients. In severe cases, thrombocytopenia and neutropenia may accompany anemia mimicking leukemia or aplastic anemia. Patients may rarely develop cerebral cortical atrophy evident on neuroimaging. In this article, a 12-month-old female infant with psychomotor developmental retardation who was referred to our hospital with the initial diagnosis of leukemia due to the finding of pancytopenia is presented. Further investigations revealed severe nutritional vitamin B12 deficiency in this case. Cranial magnetic resonance imaging (MRI) showed cerebral cortical atrophy. Replacement therapy with vitamin B12 resulted in marked improvement of psychomotor status, and cranial MRI performed 7 months following the diagnosis and treatment initiation revealed resolution of cortical atrophy. [Cukurova Med J 2016; 41(1.000): 152-160

Iron-Refractory Iron Deficiency Anemia

Iron is essential for life because it is indispensable for several biological reactions, such as oxygen transport, DNA synthesis, and cell proliferation. Over the past few years, our understanding of iron metabolism and its regulation has changed dramatically. New disorders of iron metabolism have emerged, and the role of iron as a cofactor in other disorders has begun to be recognized. The study of genetic conditions such as hemochromatosis and iron-refractory iron deficiency anemia (IRIDA) has provided crucial insights into the molecular mechanisms controlling iron homeostasis. In the future, these advances may be exploited to improve treatment of both genetic and acquired iron disorders. IRIDA is caused by mutations in TMPRSS6, the gene encoding matriptase-2, which downregulates hepcidin expression under conditions of iron deficiency. The typical features of this disorder are hypochromic, microcytic anemia with a very low mean corpuscular volume of erythrocytes, low transferrin saturation, no (or inadequate) response to oral iron, and only a partial response to parenteral iron. In contrast to classic iron deficiency anemia, serum ferritin levels are usually low-normal, and serum or urinary hepcidin levels are inappropriately high for the degree of anemia. Although the number of cases reported thus far in the literature does not exceed 100, this disorder is considered the most common of the ``atypical{''} microcytic anemias. The aim of this review is to share the current knowledge on IRIDA and increase awareness in this field

Life-threatening Anemia with Hemolysis, Thrombocytopenia and Brain Atrophy due to Vitamin B12 Deficiency

Megaloblastic anemia due to vitamin B12 deficiency is rare in infancy. It usually occurs in exclusively breast-fed infants born to vitamin B12-deficient mothers. We report a one-year-old female infant with initial diagnosis of leukemia who was found severely vitamin B12-deficient secondary to maternal deficiency. She had marked neurodevelopmental retardation, and presented with life-threatening anemia, findings of hemolysis, thrombocytopenia and cerebral atrophy on magnetic resonance imaging. [Cukurova Med J 2014; 39(4.000): 900-904

Investigation of the antibiotic resistance and biofilm formation of Staphylococcus aureus strains isolated from gangrenous mastitis of ewes

In this study, Staphylococcus aureus strains (n = 110) isolated from seven ewe flocks in Sanliurfa, Turkey were screened for antibiotic resistance and biofilmforming ability as well as for genes associated with antibiotic resistance and biofilm-forming ability. All isolates were found to be susceptible to oxacillin, gentamicin, clindamycin, cefoxitin, tetracycline, vancomycin, amoxicillin-clavulanic acid, ciprofloxacin and sulphamethoxazole-trimethoprim. The percent proportions of strains resistant to penicillin G, ampicillin and erythromycin were 27.2% (n = 30), 25.4% (n = 28) and 6.3% (n = 7), respectively. Regarding the antibiotic resistance genes, 32 (29%) isolates carried the blaZ and 8 (7.2%) the ermC gene. Other resistance genes were not detected in the isolates. All isolates showed biofilm-forming ability on Congo red agar (CRA), while 108 (98.18%) and 101 (91.81%) of them were identified as biofilm producers by the use of standard tube (ST) and microplate (MP) methods, respectively. All isolates carried the icaA and icaD genes but none of them harboured the bap gene. The results demonstrated that S. aureus isolates from gangrenous mastitis were mainly resistant to penicillins (which are susceptible to the staphylococcal beta-lactamase enzyme), and less frequently to erythromycin. Furthermore, all of the S. aureus isolates produced biofilm which was considered a potential virulence factor in the pathogenesis of staphylococcal mastitis

Inherited coagulation disorders in Turkish children: A retrospective, single-center cohort study

Albayrak, Meryem/0000-0003-2711-5150WOS:000538124200008PubMed: 31980335Objective: This study aims to investigate the distribution, clinical characteristics and outcome of inherited coagulation disorders (ICD) in Turkish children. Subjects and methods: Data from all children (age < 18 years) with ICD examined in our center were retrospectively reviewed. Results: There were 403 children with ICD (233 males and 170 females) with a median age of four years at diagnosis. The percentages of von Willebrand disease (vWd), hemophilia and rare bleeding disorders (RBD) were 40 %, 34 % and 26 %, type-1, type-2 and type-3 vWd were 63 % 17 % and 20 %, hemophilia A and B were 84 % and 16 %, and severe, moderate and mild hemophilia were 48 %, 30 % and 22 %, respectively. Factor VII and FXI deficiencies were the most prevalent, comprising 56 % and 22 % of all children with RBD, respectively. Parental consanguinity rates were 72 % in type-3 vWd and 61 % in severe RBD. The overall prevalence of gastrointestinal bleedings was 4.5 % (18/403), intracranial bleeding (ICB) was 4.96 % (20/403), mortality from ICB was 30 % (6/20) and the overall mortality rate was 1.49 % (6/403). No life-threatening bleeding was seen during regular prophylaxis. Chronic arthropathy prevalence in severe hemophilia was 8 % with primary prophylaxis and 53 % with demand therap. Inhibitor prevalence was 14 % in hemophilia-A and 5 % in hemophiliaB. Conclusions: These data show that vWd is the most common ICD, type-3 vWd and RBD are prevalent due to frequent consanguineous marriages and diagnosis of ICD is substantially delayed in Turkish children. Prophylactic replacement therapy prevents occurrence of life-threatening bleedings and reduces the development of hemophilic arthropathy

Neonatal tetanus in Turkey; what has changed in the last decade?

Abstract Background Neonatal tetanus (NT) is still considered as one of the major causes of neonatal death in many developing countries. The aim of the present study was to assess the characteristics of sixty-seven infants with the diagnosis of neonatal tetanus followed-up in the Pediatric Infectious Diseases Ward of Dicle University Hospital, Diyarbakir, between 1991 and 2006, and to draw attention to factors that may contribute (or may have contributed) to the elimination of the disease in Diyarbakir. Methods The data of sixty-seven infants whose epidemiological and clinical findings were compatible with neonatal tetanus were reviewed. Patients were stratified into two groups according to whether they survived or not to assess the effect of certain factors in the prognosis. Factors having a contribution to the higher rate of tetanus among newborn infants were discussed. Results A total of 55 cases of NT had been hospitalized between 1991 and 1996 whereas only 12 patients admitted in the last decade. All of the infants had been delivered at home by untrained traditional birth attendants (TBA), and none of the mothers had been immunized with tetanus toxoid during her pregnancy. Twenty-eight (41.8%) of the infants died during their follow-up. Lower birth weight, younger age at onset of symptoms and at the time admission, the presence of opisthotonus, risus sardonicus and were associated with a higher mortality rate. Conclusion Although the number of neonatal tetanus cases admitted to our clinic in recent years is lower than in the last decade efforts including appropriate health education of the masses, ensurement of access to antenatal sevices and increasing the rate of tetanus immunization among mothers still should be made in our region to achieve the goal of neonatal tetanus elimination.</p

The role of Matriptase-2 during the early postnatal development in humans

Hepcidin is the hepatic peptide hormone, which regulates the systemic iron homeostasis by degrading the only cellular iron exporter ferroportin. The transmembrane serine protease matriptase-2 (MT-2, encoded by TMPRSS6) is a major hepcidin inhibitor and mutations in TMPRSS6 gene are responsible of inherited iron refractory iron deficiency anemia (IRIDA), characterized by hypochromic microcytic anemia, low transferrin saturation and inappropriate normal/high levels of hepcidin. In this study we retrospectively analyzed the hematological parameters in the (neo) perinatal period of IRIDA patients to understand the role of matriptase-2 at birth and during early development. We found that anemia is not present at birth and thus we inferred that it is absent also in utero but develops after the second month of life. Our results might have implications to better understand iron homeostasis during early development in IRIDA patients and indicate that Mt2 is dispensable during fetal and neonatal life in humans, consistent with the idea that the downregulation of hepcidin by Mt2 becomes effective only with the introduction of dietary iron