Inherited vitamin K deficiency: case report and review of literature

Vitamin K is the cofactor for the hepatic carboxylation of glutamic acid residues in a number of proteins including the procoagulants factors II, VII, IX, and X. The role of vitamin K in normal bone function is not fully understood. Inherited deficiency of vitamin K dependent coagulation factors is a rare bleeding disorder reported only in a few patients. Here we present an 18-month old child who presented with osteopeni due to inherited vitamin K deficiency. While the patient had high bone specific alkaline phosphatase and parathyroid hormone levels and low osteocalcin and bone mineral density values, with the regular supplementation of vitamin K all the mentioned parameters returned to normal values.     

Dental technician's pneumoconiosis: mineralogical analysis of two cases

Pneumoconiosis was diagnosed by open lung biopsy in two dental technicians who had interstitial lung disease. Mineralogical analysis was performed to investigate the origin of the dust that had been inhaled. A marked accumulation of silicon and phosphorus was found in both cases. The hard metals chromium and cobalt were also found. Dental technician's pneumoconiosis is a complex pneumoconiosis in which such dust and hard metals may play a role.     

Immune Dysregulation,Polyendocrinopathy, Enteropathy,X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an early onset systemic autoimmune genetic disorder caused by mutation of the forkhead box protein 3 (FOXP3) gene. Enteropathy, endocrinopathy and skin manifestations are considered the classic triad of IPEX syndrome. However, patients with IPEX syndrome display a variety of phenotypes including life threatening multi-organ autoimmunity. Here, we present the case of two siblings with IPEX syndrome with the same hemizygous mutation, but with different types of symptomology at onset of the disease.     

Purification and in vitro toxicity of gamma amanitin

We aimed to obtain gamma amanitin with high purity through a purification process and compare toxic effects of alpha, beta, and gamma amanitin. Specific concentrations of the toxins (25, 10, 1, and 0.1?μg/mL) were applied to the C3A human hepatocytes. A MTT test was performed to determine the level of toxicity. Alpha amanitin showed a higher toxicity in 48?h while the lowest toxicity was observed in beta amanitin. The toxicity level of gamma amanitin was found between the alpha and beta amanitin toxicity. Our method is suitable for obtaining gamma amanitin with high purity (>99%) as well as for obtaining alpha amanitin and beta amanitin. Gamma amanitin has been shown to have equal responsibility for toxicity as alpha amanitin in amanita poisoning.     

CT-guided transthoracic biopsy: histopathologic results and complication rates

PURPOSE

We aimed to investigate the effectiveness and complications of transthoracic CT-guided biopsy techniques.

METHODS

A total of 94 CT-guided percutaneous transthoracic biopsy procedures performed in 85 patients were retrospectively evaluated. Core biopsy technique was used in 87 procedures and transthoracic fine-needle aspiration biopsy was used in seven procedures.

RESULTS

Diagnostic results were achieved in 79 of 94 biopsy procedures. Pathology results were malignant in 54 patients, suspicious for malignancy in three patients, benign in five patients, and benign nonspecific in 17 patients. Specific diagnoses were obtained in 59 patients (62.8%) using core biopsy, but no specific diagnosis could be reached with transthoracic fine-needle aspiration biopsy. Complications included pneumothorax in 27 patients (28.7%) and parenchymal hemorrhage during and after the procedure in eight patients (8.5%).

CONCLUSIONS

CT-guided percutaneous transthoracic needle biopsy is a highly accurate procedure for histopathological diagnosis of thoracic masses. In addition, percutaneous transthoracic biopsy has an acceptably low complication rate and it reduces the need for more invasive surgical procedures.Since the beginning of the 21st century, lung cancer has been cited as one of the most common causes of death (1). World Health Organization declared lung cancer as the first leading cause of death in men and second in women, among all types of cancers (2).Percutaneous transthoracic biopsies are performed either using fine-needle aspiration biopsy (transthoracic fine-needle aspiration biopsy, TTFNAB) method or using the incisional or core biopsy method. Incisional biopsy and core biopsy are used to obtain a part of tissue from the lesion for histological diagnosis. On the other hand, TTFNAB is used to obtain aspiration material, which is used for cytological examination and lesion diagnosis (3, 4).Indications of transthoracic needle biopsy include solitary and multiple pulmonary nodules, mass lesions, persistent focal infiltration, consolidation, presence of cavities and abscesses, pleural lesions, and mediastinal and hilar mass diagnosis (3, 5).The aim of this study was to investigate the technique, suitability, and complications in CT-guided transthoracic biopsy of lung masses.