Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome or in sporadic form characterized by hamartamatous lesions in multiple organs. It affects several sites such as skin, kidney, lung, heart, central nervous system and liver in diferent stages of disease. TSC is caused by mutations on either chromosome 9 (9q34, the TSC1 gene) or chromosome 16 (16p13, TSC2 gene). TSC1 and TSC2 genes encode proteins called tuberin and hamartin; respectively. Although the pathogenetic mechanism is exactly unknown, a possible mechanism is a GTPase-activating protein against Rheb (Ras homolog enriched in brain), which regulates mTOR (mammalian target of rapamycin) signaling. The mammalian target of rapamycin (mTOR), is a serine-threonine kinase that increases cell proliferation and growth. We aimed to review the clinical manifestations and their predictive role on the course of disease.

In this study, a questionnaire was used to obtain information about the ideas and experiences of doctors working as operating staff from several specialties in regards to regional anesthesia and local anesthetic drugs to determine the extent to which their knowledge corroborates these types of application and to obtain data for studies to fulfill the future needs of this field. The questionnaire consisted of 18 questions about the use of regional anesthesia and local anesthetic drugs at the time of an operation at nearby hospitals. In total, 109 doctors from 12 branches were included in this study. Although the preference of doctors regarding the selection of regional anesthesia as the first priority varied by field, this choice was not affected by variables such as age, being a research assistant or specialist and working in a state or private hospital. Doctors who were 25-30 years old had more information about local anesthetic drugs than doctors who were 40 years old and older, and this difference was significant. Because doctors aged 40 years and older had less information about local anesthetic drugs among all the doctors studied, training doctors via postgraduate education about this subject would be a better decision.

To evaluate the epidemiological features of the patients with lip cancer and the relationship between these features and smoking. The relationship between epidemiological features, localization of the lesions, histopathological type and smoking was evaluated in 92 patients in this study. The number of the patients with lip cancers was average 5.41 per year and the 80% of the cases were male. The average age was 62.1. When the average age was compared with gender, the females were meaningfully older than males (p<0.05). It was seen that the patients who smokes were younger than the patients who do not (p<0.05). It was seen that a large number of the patients (57.6%) were the farmers who work in the open air and they were meaningfully younger than other professional groups (p<0.05). A large number of the lesions were squamous cell carcinoma (SCC) (88%). While 86% of the lesions in the patients with SCC were localized on the lower lip, 70% of the lesions in the patients with basal cell cancer were localized on the upper lip. There was no statistical difference in terms of smoking and histopathological types (p>0.05). Lip cancers do not reflect the characteristics of the oral cavity tumors because of the differences in behavioral patterns and while the exposure to ultraviolet sun lights has an important role in the ethiology, it was evaluated that smoking had a little contribution to the tumor development.

To assess iodine status in vulnerable groups of Linxia Hui Autonomous Prefecture, China. We selected 5 villages in the east, south, west, north and center of 8 counties of Linxia Hui Autonomous Prefecture randomly. In each village, one primary school was identified and 80 students aged 8-10 years were randomly selected. At the same time, 20 pregnant women, 20 lactating women, 20 women of childbearing age and 20 young children (0-3 years) were randomly selected via existing township health center lists. The iodine content of household salt and drinking water and the urine in four population subsets (except school-aged children) was measured. The thyroids were examined in school-aged children. The iodine content in most household drinking water (90.2%) was less than 10µg/L. The percentage of households using adequately iodized salt was 83.2% and percentage of households using non-iodized salt was as high as 15%. The median urinary iodine concentration (UIC) of pregnant and lactating women, and women of child-bearing age was 89, 85 and 90µg/L, respectively, indicating an iodine deficiency. The median UIC of 0-3 year old babies was 107µg/L. The goiter rates of school-aged children were 10.6% by ultrasound and 9.9% by palpation. Low median UIC and high goiter rates were observed most frequently in counties with higher non-iodized salt and higher percentage of minority nationalities. Iodine deficiency has been a significant public health problem in Linxia Hui Autonomous Prefecture and still exists. Iodine supplement is needed to ensure adequate iodine nutrition for at-risk groups.

The aim of this study is to describe the characteristics of the patients admitted to our burn unit, and identify the factors associated with burn mortality. Between January 2000 and June 2011; Survivor group (980 control cases (Group 2)) were compared to non-survivor group (165 patients (Group 1)) to determine what factors might predict a high risk of mortality. Mortality rate was 14%. Non-surviving patients were significantly older (22.26±1.63 vs. 15.83±1.56, p=0.000) and they also stayed shorter (13.30±1.16 vs. 21.32±0.57, p=0.000) in the Burn Unit. The total body surface area (TBSA) burned (52.35±1.82 vs. 20.56±0.43, p=0.000) was significantly higher in non-survivor group. Inhalation injuries were also significantly higher in this group (15.8% vs. 0.9%, p=0.000). With regard to the cause of burn, non-survivor suffered significantly more flame injuries. The patients with risk factors such as older age, increasing of burned TBSA and inhalation injury should be categorized as high risk for mortality at the time of admission.

It has been reported that headache in 50-60% of subarachnoid hemorrhage cases has an abrupt onset and is severe with the cause in the 75-80% of events being intracranial aneurysm rupture. This condition, which is also known as sentinel headache and particularly observed days before the rupture of an aneurysm, is of great importance to clinicians. Subarachnoid hemorrhage is rarely seen in pregnancy; on the other hand, it has a high mortality rate for both mother and fetus. This paper presents the case studies of two pregnant women who were admitted to the hospital with a sentinel headache, abrupt-onset and variable headache complaints, they were consequently diagnosed with subarachnoid hemorrhage.

We report a case of grade IV blunt renal injury in an hemodynamically unstable 12-year-old boy successfully treated by primary open surgery. Adequate surgical treatment in strictly defined cases of blunt renal injuries provide the long-term preservation of injured kidney without significant complications.

The National polio surveillance programme is one of the prime health projects in Nepal and its neighboring countries. A huge amount of effort and money is being pumped into polio surveillance in these areas. Vaccine associated Paralytic polio is one of the prime concerns as far as the side effects are considered. In the past there has been concern over the relationship of Oral Polio Vaccine (OPV) with intussusception as with rotavirus vaccine. We report a case of ileo-colic intussusception which occurred within 24 hours of oral polio vaccination during the pulse polio immunisation. We also discuss the facts available to us regarding the association of OPV with intussusception.

The most significant parameter that comes forth among symptoms affiliated with mitral stenosis is a chronic increase in the left atrium pressure. The very first symptom is effort dyspnea. Other symptoms may include fatigue, chronic coughing due to enlargement of the left atrium, hemoptysis, orthopnea, paroxysmal nocturnal dyspnea, tiredness, symptoms related with right cardiac failure and pulmoner edema. In our case, we present a very different symptom which accompanies these symptoms: back pain. Severe mitral stenosis was determined with echocardiography in patient. We assume that, back pain may have disappeared after mitral replacement and which makes us think that back pain had originated from the calcified thrombosis which completely covered the left atrium base and the atrium wall.

Sturge-Weber syndrome is a rare neuro-cutaneous disease presenting as port- wine stain over distribution of trigeminal nerve. There is a wide variability in manifestations of the disease. Associated malformations in the form of buphthalmos is a rare occurrence with this disorder. We report a 2 months old infant who had bilateral port- wine stain over face and extending over the upper part of chest. There were no seizures and developmental milestones were normal. The patient had associated buphthalmos in the right eye. The intraocular pressure in the right eye was raised while it was normal in left eye. Cranial CT scan did not reveal any calcifications. In conclusion, Sturge- Weber syndrome may not present clinically in its typical form. The presence of buphthalmos is to be looked especially when there is extensive bilateral port-wine stains.

The use of carbapenems has been associated with increased risk of seizure with imipenem having a higher propensity to induce seizure as compared to meropenem. As there is limited report on the cross-reactivity between these two agents, clinicians may choose to switch the antibiotic regimen to meropenem whenever an imipenem associated seizure is suspected. We described a 67-year-old woman who was admitted to the intensive care unit due to severe melioidosis. She experienced an episode of myoclonus jerks following two doses of imipenem 500 mg given intravenously at 12 hour interval. Two hours after her first seizure, the patient experienced two more myoclonus jerks which were two hours apart of each other. Imipenem was then discontinued and meropenem 1 g stat and followed by 500 mg every 12 hourly was given intravenously. However, patient continued to experience myoclonus jerks with the first episode occurring four hours after the initiation of meropenem. Phenytoin 100 mg every 8 hourly was given intravenously for the management of seizure. However, the frequency of myoclonus jerks increased to a total of 14 episodes on the next day. The phenytoin therapy was subsequently substituted with intravenous sodium valproate 750 mg stat followed by 400 mg every 12 hourly. With this change in treatment, patient’s seizure was resolved. The present case showed the possibility of cross-reactivity in neurotoxicity which occurred across the use of imipenem and meropenem.

Amniotic fluid embolism (AFE) is a rare and fatal disorder in which the diagnosis can be challenging for clinicians and pathologists. A healthy 36-year-old woman (gravida 4, para 2) was admitted for delivery in the 40th week of gestation. At the fifth minute following birth, during expulsion of the placenta, the patient suddenly collapsed with bradycardia, shallow respiration, and loss of consciousness. After evaluation, an emergent pulmonary embolectomy for acute thrombo-embolism was performed, however the patient could not be weaned from cardiopulmonary bypass, and died of severe right ventricular dysfunction following the operation. Microscopic examination of the biopsy material detected clearly visible fetal epithelial squames inside pulmonary vessels, both with routine hematoxylin-eosin (HE) staining and immunostaining for high molecular weight cytokeratin (HMW-CK). The diagnosis of amniotic fluid embolism (AFE) was made, which was confirmed as the cause of death. We show that HMW-CK staining can be a useful means of detecting amniotic fluid-derived fetal keratin within alveolar tissue. We suggest that this technique, used in addition to HE staining and in combination with sudden-onset clinical findings, may increase the accuracy of diagnosis in AFE.