Familial paragangliomas

Paragangliomas are rare tumours of the autonomic nervous system and occur in sporadic and hereditary forms. They are usually benign and have a low mortality. However, they cause significant morbidity related to their mass effect. Genetic predisposition can occur within the familial tumour syndromes multiple endocrine neoplasia type 2 (MEN 2), von Hippel-Lindau (VHL) and neurofibromatosis type 1 (NF-1), or be due to mutations in genes specific to the development of paraganglioma only. Compared to sporadic forms, familial paragangliomas tend to present at a younger age and at multiple sites. Tumours should be diagnosed and resected as early as possible, as it has been shown that morbidity is related to tumour size. This article gives an overview of the current literature on the origin of the different forms of paragangliomas, DNA diagnosis, as well as biochemical and radiological screening guidelines

TSH-CHECK-1 test: diagnostic accuracy and potential application to initiating treatment for hypothyroidism in patients on anti-tuberculosis drugs.

Thyroid-stimulating hormone (TSH) promotes expression of thyroid hormones which are essential for metabolism, growth, and development. Second-line drugs to treat tuberculosis (TB) can cause hypothyroidism by suppressing thyroid hormone synthesis. Therefore, TSH levels are routinely measured in TB patients receiving second-line drugs, and thyroxin treatment is initiated where indicated. However, standard TSH tests are technically demanding for many low-resource settings where TB is prevalent; a simple and inexpensive test is urgently needed

Free serum cortisol during the postoperative acute phase response determined by equilibrium dialysis liquid chromatography-tandem mass spectrometry

In severely ill patients low concentrations of the corticosteroid binding globulin are typically found; the aim of this study was to quantify directly free bioactive cortisol concentrations in the sera of postoperative cardiosurgical patients. Serum samples of 12 consecutive patients undergoing aortocoronary bypass surgery taken preoperatively and on the postoperative days 1 to 4 were analyzed. Total serum cortisol was quantified using liquid chromatographytandem mass spectrometry with an online sample extraction system and trideuterated cortisol as the internal standard, and free serum cortisol was measured after overnight equilibrium dialysis. Whereas on the first postoperative day, the median total serum cortisol concentration was approximately twofold increased compared to preoperative samples (preoperatively, 245 nmol/l (interquartile range (IQR) 203293 nmol/l); first postoperative day, 512 nmol/l (IQR 410611 nmol/l)), median dialyzable free cortisol concentration was almost sevenfold increased (preoperatively, 14.2 nmol/l (IQR 10.920.7 nmol/l); first postoperative day, 98.3 nmol/l (IQR 81.3134 nmol/l)). On the fourth postoperative day, median free cortisol was still significantly increased compared to baseline sampling (p < 0.05), whereas median total cortisol was not. A median of 5.7% (IQR 5.47.0%) of total cortisol was found as free cortisol on the preoperative day, 21.2% (IQR 18.9 23.5%) on the first postoperative day and 10.5% (IQR 9.814.0%) on the fourth postoperative day. It is concluded that during the postoperative period the freeto bound ratio of cortisol is highly variable and that during the acute phase response direct quantification of free bioactive cortisol concentrations seems to be biologically more appropriate than the measurement of total cortisol concentrations

Excessive Muscle Paralysis Due to Pulmonary Carcinoid —A Case Report

We present the case of a 58-year-old woman with a renin secreting typical bronchopulmonary carcinoid. This patient showed hypotension, constipation and fatigue due to extensive hypokaliemia (K =1.9 meq/L). Aldosterone (102.7 ng/100 mL) and renin (46 ng/mL) were excessively elevated at that time, but cortisol level was normal. Routine chest roentgenography and computed tomography revealed a nodular lesion in the upper left lung lobe, which was suspicious for a neurosecretory pulmonary tumor. The final diagnosis was made by using bronchoscopic procedures and the histologically diagnosis was compatible as a typical pulmonary carcinoid. The tumor was resected curatively, and the renin and aldosterone level became normal. A year after the patient looks healthy

Breastfeeding and Maternal Risk of Type 2 Diabetes Mellitus: A Literature Review

Breast-feeding offers plenty of benefits for both infants and mothers, however, most studies have mostly been concerned with the health of infants. As far as infants are concerned, breastfeeding is associated with nutritional advantages and a reduced risk of acute otitis media, atopic dermatitis, gastrointestinal infections, lower respiratory tract diseases, asthma, obesity, sudden infant death syndrome or even childhood leukemia. The health outcomes of the breastfeeding mother include reduced risk for breast, endometrial and ovarian cancer are well documented. In our article we will focus on the impact of breast-feeding on lowering the risk of diabetes mellitus in mothers

Thrombin generation during cardiopulmonary bypass: the possible role of retransfusion of blood aspirated from the surgical field

BACKGROUND: In spite of using heparin-coated extracorporeal circuits, cardiopulmonary bypass (CPB) is still associated with an extensive thrombin generation, which is only partially suppressed by the use of high dosages of heparin. Recent studies have focused on the origins of this thrombotic stimulus and the possible role of retransfused suctioned blood from the thoracic cavities on the activation of the extrinsic coagulation pathway. The present study was designed to find during CPB an association between retransfusion of suctioned blood from the pericardium and pleural space, containing activated factor VIIa and systemic thrombin generation. METHODS: Blood samples taken from 12 consenting patients who had elective cardiac surgery were assayed for plasma factor VIIa, prothrombin fragment 1+2 (F(1+2)), and thrombin-antithrombin (TAT) concentrations. Blood aspirated from the pericardium and pleural space was collected separately, assayed for F(1+2), TAT, and factor VIIa and retransfused to the patient after the aorta occlusion. RESULTS: After systemic heparinization and during CPB thrombin generation was minimal, as indicated by the lower than base line plasma levels of F(1+2), and TAT after correction for hemodilution. In contrast, blood aspirated from the thoracic cavities had significantly higher levels of factor VIIa, F(1+2), and TAT compared to the simultaneous samples from the blood circulation (P < 0.05). Furthermore, after retransfusion of the suctioned blood (range, 200–1600 mL) circulating levels of F(1+2), and TAT rose significantly from 1.6 to 2.9 nmol/L (P = 0.002) and from 5.1 to 37.5 μg/L (P = 0.01), respectively. The increase in both F(1+2), and TAT levels correlated significantly with the amount of retransfused suctioned blood (r = 0.68, P = 0.021 and r = 0.90, P = 0.001, respectively). However, the circulating factor VIIa levels did not correlate with TAT and F(1+2 )levels. CONCLUSIONS: These data suggest that blood aspirated from the thoracic cavities during CPB is highly thrombogenic. Retransfusion of this blood may, therefore, promote further systemic thrombin generation during CPB

HUBUNGAN KADAR FERRITIN SERUM DENGAN FUNGSI TIROID PADA ANAK DENGAN THALASSEMIA β MAYOR

Latar Belakang: Thalassemia β mayor merupakan penyakit kelainan darah yang menyebabkan anemia kronik, diikuti dengan hipoksia jaringan kronik, dan membutuhkan transfusi darah berulang. Defek perfusi jaringan bersama dengan penumpukan besi menyebabkan efek toksik pada berbagai organ, salah satunya kelenjar tiroid. Tujuan: Mengetahui hubungan antara kelebihan beban besi (ferritin serum) dengan kejadian hipotiroid pada anak yang menderita thalassemia β mayor di RSUP Dr.M.Djamil. Metode: Penelitian ini merupakan penelitian cross-sectional terhadap 43 subjek dengan thalassemia β mayor dan mendapat transfusi darah rutin di RSUP Dr.M.Djamil periode April 2018 sampai Februari 2019. Subjek dipilih secara total sampling dan dikelompokkan menjadi dua kelompok berdasarkan kadar ferritin serum, yaitu 2.500 µg/L. Pemeriksaan kadar FT4 dan TSH dengan menggunakan metode ELFA dan dikelompokan menjadi eutiroid dan hipotiroid. Analisis statistik bermakna dengan p<0.05. Hasil: Kadar ferritin serum 2.500 µg/L terdapat pada masing-masing 19 (44,2%) dan 24 (55,8%) subjek. Hipotiroid terjadi pada 13 (38,1%) subjek dengan kadar ferritin > 2.500 μg/L dan 8 (38,1%) subjek dengan kadar ferritin < 2.500 µg/L. Tidak ditemukan hubungan bermakna antara ferritin serum dengan fungsi tiroid pada subjek (p=0,432). Kesimpulan: Persentase hipotiroid meningkat sesuai dengan meningkatnya kadar ferritin serum, namun tidak terdapat hubungan bermakna antara kadar ferritin serum dengan fungsi tiroid pada anak dengan thalassemia β mayor