The value of tartrate resistant acid phosphatase (TRAP) immunoreactivity in diagnosis of hairy cell leukemia

Hairy cell leukemia (HCL) is a rare chronic B-cell lymphoproliferative disorder characterized by splenomegaly, pancytopenia, and circulating atypical lymphocytes with circumferential cytoplasmic projections. We investigated the specificity and the sensitivity of anti-TRAP antibody immunoreactivity in 57 cases of HCL. We found that there is a statistically highly significant difference between TRAP immunoreactivities of the study and the control groups, and HCL can be diagnosed by TRAP immunoreactivity in bone marrow trephine biopsy materials with a specificity of 98.27 % and a sensitivity of 100%.     

Anatomical variations as potential risk factors for ulnar tunnel syndrome: a cadaveric study

The aim of this study was to assess the anatomical variations, especially the anomalous muscles passing through Guyon's canal and the fibrous arch forming the piso-hamate hiatus, which may play a role in ulnar tunnel syndrome. We have also focused on the relation of these structures with specific concern to the ulnar nerve. Nineteen embalmed cadavers (37 hands and forearms) were dissected. A fibrous arch extending between the pisiform and the hook of the hamate was observed in 21 hands. In majority of the cases flexor digiti minimi muscle was found to originate only from this arch. An anomalous muscle was disclosed in six hands with four of them passing through the piso-hamate hiatus with the deep branch of the ulnar nerve. In two of four cases, the superficial branch of the ulnar nerve was also accompanying the deep branch of the ulnar nerve beneath the anomalous muscle and through the piso-hamate hiatus. Because these anomalous muscles were generally found to course through the piso-hamate hiatus with the branches of the ulnar nerve, we conclude that the distal portion of the Guyon's canal has a relatively higher risk for ulnar nerve entrapment. We believe that surgeons operating on this region should take into account these various anatomic structures.     

Retinoic acid isomers protect hippocampal neurons from amyloid-β induced neurodegeneration

Attenuating amyloid-beta mediated neurodegeneration is of major therapeutic consideration in the potential treatment of Alzheimer disease. Previously, we found that a high dietary consumption of retinoic acid was associated with a reduced incidence of Alzheimer disease. Therefore, in this study, we investigated whether amyloid-beta mediated cell death in primary hippocampal neurons could be prevented by retinoic acid isomers. Our results suggest that retinoic acid isomers, including all-trans retinoic acid, 9-cis retinoic acid, and 13-cis retinoic acid, may play an important role in protecting neurons from amyloid-beta -induced cell death. Retinoic acid may therefore afford a novel therapeutic mechanism for the treatment and prevention of Alzheimer disease.     

Concurrent Poland anomaly and idiopathic hirsutism

Poland syndrome is characterized by congenital and unilateral absence of the pectoralis major muscle and ipsilateral upper limb anomalies. Identified patients also may include other disorders. We report a 15-year-old Caucasian woman with a unilateral hypoplasia of the breast and nipple, ipsilateral chest wall depression deformity, pectoralis major muscle agenesis, and severe hirsutism (Ferriman-Gallwey score: 21) without extremity anomaly. She had regular menses, and no hormonal abnormality and family history of hirsutism. Therefore, she was considered as a case of idiopathic hirsutism. This is the first case report of hirsutism in a patient with Poland syndrome.     

Serum IL-18 levels in tuberculosis: comparison with pneumonia, lung cancer and healthy controls

OBJECTIVE: The aim of the present study was to document the serum IL-18 levels in patients with pulmonary tuberculosis (P-TB), extrapulmonary tuberculosis (EP-TB), pneumonia, lung cancer and in healthy controls, and to investigate whether it may assist in the differential diagnosis of P-TB. METHODOLOGY: A total of 116 patients were included in the study. The study population consisted of patients with P-TB, EP-TB, pneumonia and lung cancer and controls. P-TB patients were graded according to sputum positivity and extent of disease. Serum levels of IL-18 (ELISA) were compared between groups and with other clinical measures of disease. RESULTS: Compared with the controls, all groups of patients had increased serum levels of IL-18. The highest mean concentration of IL-18 was observed in P-TB. Serum levels of IL-18 in the patients with P-TB correlated well with the extent of disease. CONCLUSIONS: Although increased serum levels of IL-18 were not specific for TB, the increased levels may favour active TB in radiologically advanced disease where CXR findings are difficult to interpret, and sputum smears or cultures are not helpful.     

Vulnerable plaque: Definition,detection, treatment,and future implications

Atherosclerosis continues to account for significant morbidity and mortality in most of the world. The major proportion of atherosclerosis mortality is related to atherosclerotic coronary artery disease, yet there still is not an optimal method for making the diagnosis of vulnerable plaque in vivo. The search for such an undefined method, along with studies on amelioration of currently available technology, gains special significance when the association between the qualitative definition of lesions in an individual and cardiovascular risks are considered. We, therefore, start by defining the critical lesion of coronary atherosclerosis and review the advantages and potential for clinical use of various methods to detect the vulnerable plaque and comment on possible future implications in this field.     

Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population

Maternal folic acid intake in the periconceptional period is strongly related to reduction in recurrence and occurrence of birth defects involving the neural tube. Among the single nucleotide polymorphisms (SNPs) influencing the folate metabolism, the methylenetetrahydrofolate reductase (MTHFR) gene has been the one most exclusively studied. Many studies have reported significant association between MTHFR 677C>T and increased risk of neural tube defects (NTDs). Our previous study did not support this observation. The present study aimed to determine the prevalence of 1298A>C polymorphism in addition to 677C>T in the same Turkish population as a risk factor for NTDs. We genotyped case (95 offspring with NTDs, 80 mothers, 72 fathers) and control (93 healthy children) populations for MTHFR 677C>T and MTHFR 1298 A>C polymorphisms. The comparison demonstrated a significant increase in the 1298AA/677TT genotype frequency among mothers of offspring with NTDs (OR 5.23 [1.06-25.9]; p=0.067). The 677CT genotype was only 1.35 times higher than controls among mothers when 677C>T polymorphism was evaluated alone, while 677CT/1298AC in the current study demonstrated a 3.8 times increase in this risk. These observations led us to conclude that although not statistically significant, MTHFR 1298AC polymorphism might be a risk factor for the occurrence of NTDs in the Turkish population.     

Neonatal lupus erythematosus presenting with cholestatic hepatitis: a case report and review of the literature

Neonatal lupus erythematosus (NLE) is a disease primarily characterized by cardiac and/or cutaneous involvement. Hepatic, hematological, neurological and pulmonary involvement are rare manifestations and normally considered as mild and transient complications. But recent studies have shown more frequent hepatic involvement in NLE. We report a two month-old male infant, born to a clinically asymptomatic mother, presenting with significant hepatic involvement and annular, erythematous plaques with hyperkeratotic borders at the eyebrow region and anterior surface of trunk. Both the infant and his mother were positive for anti-Ro (SS-A) and anti-La (SS-B).     

Cirrhosis in an infant heterozygous for classical citrullinaemia

Classical citrullinaemia is caused by the inherited deficiency of argininosuccinate synthetase. Although varying degrees of liver involvement have been observed in urea cycle defects, including classical citrullinaemia, the co-existence of liver failure in a patient heterozygous for the disease has not been reported before. A female infant was investigated to find out the aetiology of early infantile liver failure. She was later found to be a heterozygote for the G390R mutation found in severe citrullinaemia patients. CONCLUSION: Classical citrullinaemia is a phenotypically heterogeneous disease, and observations for signs of its presence should be made even in heterozygotes.