Intravenous amitraz poisoning

Amitraz, a derivative of dimethylformamidine, is an acariside and insecticide used to control parasites in animals. Amitraz inhibits monoamine oxidase and prostaglandin synthesis and is an alpha-2 adrenergic agonist. Xylene, a mixture of o-, m-, and p-dimethylbenzene, is widely used in industry. A 22-year-old woman was poisoned by an intravenous injection of 5-6 mL of an amitraz formulation (amitraz 12.5% + xylene 57.5%). Clinical findings were coma (Glasgow coma score 3), respiratory depression, hypotension, bradycardia, hematuria, and edema and hyperemia at the injection site. Although her coma and other symptoms quickly resolved, as has been seen in oral and dermal amitraz poisoning, intoxication with higher doses occurring from intravenous injection may result in more serious problems.     

Spinal muscular atrophy associated with progressive myoclonus epilepsy

A rare syndrome characterized by lower motor neuron disease associated with progressive myoclonic epilepsy, referred to as “spinal muscular atrophy associated with progressive myoclonic epilepsy” (SMA‐PME), has been described in childhood and is inherited as an autosomal recessive trait. SMA‐PME is caused by mutation in the ASAH1 gene encoding acid ceramidase. Ceramide and the metabolites participate in various cellular events as lipid mediators. The catabolism of ceramide in mammals occurs in lysosomes through the activity of ceramidase. Three different ceramidases (acid, neutral and alkaline) have been identified and appear to play distinct roles in sphingolipid metabolism. The enzymatic activity of acid ceramidase is deficient in two rare inherited disorders; Farber disease and SMA‐PME. Farber disease is a very rare and severe autosomal recessive condition with a distinct clinical phenotype. The marked difference in disease manifestations may explain why Farber and SMA‐PME diseases were not previously suspected to be allelic conditions. The precise molecular mechanism underlying the phenotypic differences remains to be clarified. Recently, a condition with mutation in CERS1, the gene encoding ceramide synthase 1, has been identified as a novel form of PME. This finding underlies the essential role of enzymes regulating either the synthesis (CERS1) or degradation (ASAH1) of ceramide, and the link between defects in ceramide metabolism and PME.     

Extrapulmonary tuberculosis in immunocompetent adults

Tuberculosis continues to be a significant cause of morbidity and mortality. Although tuberculosis usually attacks the lungs, other organs can also be affected, leading to extrapulmonary tuberculosis (EPT) or disseminated tuberculosis. This study retrospectively analysed the incidence, clinical sites and risk factors for EPT in 252 patients with EPT between 1 January 1991 and 30 June 2003. EPT was defined as clinical, laboratory, imaging, and/or histopathological evidence of mycobacterial infection in a site other than hilar lymph nodes or lung parenchyma. In our study group, tuberculous lymphadenitis (36.5%) was found to be the most common clinical presentation of EPT. 119 (47.2%) patients developed the severe form of EPT, according to the WHO report, and 133 (52.8%) patients developed the less severe form. A case history of pulmonary tuberculosis was found to be a risk factor for the development of EPT (p <0.05). The study showed that EPT is still a public health problem. These findings suggested that pulmonary tuberculosis may play a critical role in the development of EPT. 12-month therapy may be chosen in patients with EPT considering acceptable adverse effects without relapses.     

A new silent germline mutation of the TSH receptor: coexpression in a hyperthyroid family member with a second activating somatic mutation.

BACKGROUND: Up to date, three thyroid-stimulating hormone receptor (TSHR) germline variants have been reported for which no functional consequences have been detected by in vitro characterizations. However, familial nonautoimmune hyperthyroidism and hot nodules are clearly associated with constitutively activating TSHR germline mutations. We describe a family with a new TSHR germline mutation that is associated with euthyroidism in 13 family members and hyperthyroidism in 1 family member. METHODS: Mutation analysis of the TSHR gene was performed by denaturing gradient gel electrophoresis. TSHR constructs were characterized by determination of cell surface expression, 3'-5'-cyclic adenosine monophosphate (cAMP) accumulation, and constitutive cAMP activity. RESULTS: A novel TSHR germline mutation (N372T) was found in a man who presented with thyrotoxicosis. The mutation was also detected in 13 family members, all of whom were euthyroid. Interestingly, an additional constitutively active somatic mutation (S281N) was identified on the second parental TSHR allele of the hyperthyroid index patient. Linear regression analysis showed a lack of constitutive activity for N372T. Moreover, coexpression studies of N372T with S281N did not reveal any evidence for a functional influence of N372T on the constitutively active mutation (CAM). CONCLUSIONS: N372T is unlikely to cause altered thyroid function. This is consistent with the finding that only the index patient with the additional somatic mutation S281N was hyperthyroid.     

Primary hepatic neuroendocrine tumor: Five cases with different preoperative diagnoses

Neuroendocrine tumors, also known as carcinoid tumors, behave like benign tumors; however, they show the characteristics of carcinoma. While more than 80% of the neuroendocrine tumors found in the liver are metastatic, primary hepatic neuroendocrine tumors are very rare. Five patients with hepatic mass who admitted to our clinic between August 2003 and July 2007 were treated surgically. Ultrasonography, computerized tomography and magnetic resonance imaging were performed in all patients. Endoscopy and colonoscopy were conducted to exclude malignancy of other sites. Hepatectomy was carried out in all patients. Diagnosis was confirmed with immunohistochemical examination. The five patients treated surgically were diagnosed as primary hepatic neuroendocrine tumor histopathologically. Abdominal pain was the most common complaint of all patients. Hepatectomy was conducted in all patients due to tumors originating from the liver lobes. Only one patient (Case 2) underwent transarterial chemoembolization before hepatectomy to reduce tumor bleeding. Owing to tumor recurrence on the left lobe of the liver in Case 2, transarterial chemoembolization was performed four years after hepatectomy. R0 resection was achieved in two patients (Cases 1 and 3). In conclusion, primary hepatic neuroendocrine tumors are very rare and asymptomatic tumors. Thus, high-sensitive laboratory and imaging examinations are required. At present, hepatectomy remains the main treatment for primary hepatic neuroendocrine tumor.     

Arg-Phe-amide-related peptides influence gonadotropin-releasing hormone neurons

The hypothalamic Arg-Phe-amide-related peptides, gonadotropin-inhibitory hormone and orthologous mammalian peptides of Arg-Phe-amide, may be important regulators of the hypothalamus-pituitary-gonadal reproductive axis. These peptides may modulate the effects of kisspeptins because they are presently recognized as the most potent activators of the hypothalamus-pituitary-gonadal axis. However, their effects on gonadotropin-releasing hormone neurons have not been investigated. In the current study, the GT1-7 cell line-expressing gonadotropin-releasing hormone was used as a model to explore the effects of Arg-Phe- amide-related peptides on kisspeptin activation. Intracellular calcium concentration was quantified using the calcium-sensitive dye, fura-2 acetoxymethyl ester. Gonadotropin-releasing hormone released into the medium was detected via enzyme-linked immunosorbent assay. Results showed that 100 nmol/L kisspeptin-10 significantly increased gonadotropin-releasing hormone levels (at 120 minutes of exposure) and intracellular calcium concentrations. Co-treatment of kisspeptin with 1 μmol/L gonadotropin-inhibitory hormone or 1 μmol/L Arg-Phe-amide-related peptide-1 significantly attenuated levels of kisspeptin-induced gonadotropin-releasing hormone but did not affect kisspeptin-induced elevations of intracellular calcium concentration. Overall, the results suggest that gonadotropin-inhibitory hormone and Arg-Phe-amide-related peptide-1 may have inhibitory effects on kisspeptin-activated gonadotropin-releasing hormone neurons independent of the calcium signaling pathway.     

Comparison of Laparoscopic and Microscopic Subinguinal Varicocelectomy in terms of Postoperative Scrotal Pain

Background and Objectives:

In this study, 2 different varicocelectomy methods were compared with regard to postoperative scrotal pain, length of operation, and complications.

Methods:

Forty varicocele patients, who visited our clinic because of infertility or scrotal pain between 2008 and 2009, were enrolled in this clinical study. Microscopic subinguinal varicocelectomy was performed on 20 patients in Group I, and laparoscopic varicocelectomy was performed on 20 patients in Group II. Following surgery, the patients were assessed for postoperative requirements for analgesia; return to normal activity; varicocele recurrence; hydrocele formation; scrotal pain at postoperative days 1, 3, and 7; and other complications.

Results:

Mean age was 24.2±3.4 years in Group I and 25.1±2.1 years in Group II. Mean pain scores at postoperative 1, 3, and 7 days in Group I were (5.20±1.14, 4.60±0.97, and 3.50±0.97, respectively) significantly higher than those of Group II (0.70±0.82, 0.60±0.84, and 0.10±0.32, respectively). Time to return to normal activity was significantly shorter in Group II (3.7±2.1 days) compared with Group I (6.8±3.4 days) (p=0.028). However, the number of recurrences and hydroceles, as a complication of varicocelectomy, was 2 times higher in Group II (10%) than in Group I (5%).

Conclusions:

We believe that laparoscopic varicocelectomy is a safe, effective, and minimally invasive procedure. Furthermore, reduced postoperative discomfort and earlier return to normal activity are additional advantages of this method.