Amyloid Goiter Due to Familial Mediterranean Fever in a Patient with Byler Syndrome: A Case Report

Background: Familial Mediterranean Fever (FMF), also inherited with autosomal recessive trait, is characterized by recurrent episodes of fever, arthritis, and serositis. Congenital Byler Syndrome (Progressive Familial Intrahepatic Cholestasis) inherited with autosomal recessive trait and characterized by defective secretion of bile acids. FMF associated Amyloid A deposition occurs in many tissues and organs, but amyloid goiter is a rare entity that leads to enlargement and dysfunction of the thyroid. Case Report: We present a rare case of 24 year old male patient who had liver and kidney transplantation due to Byler Syndrome and secondary amyloidosis related to FMF, diagnosed as rapidly growing large amyloid goiter. Deposits of extracellular amyloid and dense adipose metaplasia diagnostic for amyloid goiter are determined upon histopathological examination of thyroidectomy material. Conclusion: When goiter was detected in cases with history of systemic amyloidosis and rapidly growing goitre, amyloid goiter should be remembered at first. This case is unique since two autosomal genetic disorders are together in the same patient and important as it emphasizes the consequences of consanguineous marriage, early diagnosis and treatment compliance of FMF and the awareness of amyloid goiter in patients followed by primary care physicians and healthcare professionals

Acute Lymphoblastic Leukemia Associated with Brucellosis in Two Patients with Fever and Pancytopenia

Brucellosis is a disease involving the lymphoproliferative system, which may lead to changes in the hematological parameters; however, pancytopenia is a rare finding. However, malignant diseases in association with brucellosis are rarely the cause of pancytopenia. Herein, two cases with fever and pancytopenia, diagnosed as simultaneous acute lymphoblastic leukemia and brucellosis are presented. Anti-leukemic therapy and brucellosis treatment were administered simultaneously, and normal blood parameters obtained. The first patient is in complete remission; the other recovered from the brucellosis, but later died due to a leukemic relapse

Menopause status and attitudes in a Turkish midlife female population: an epidemiological study

<p>Abstract</p> <p>Background</p> <p>It is a well accepted status that socio-cultural characteristics may affect the onset of menopause and its characteristics. The aims of this study were to describe the prevalence rates of menopausal symptoms and these symptoms related factors, and to assess the women's attitudes towards some climacteric issues.</p> <p>Methods</p> <p>This survey was conducted between Jan., 1^st2008 and March, 31^st2008 to research the menopause status of the female population in a city of western Turkey. The study group consisted of 1551 women selected with a multistage area sampling method: a random sample of individuals aged 40-65 years. The questionnaire included questions pertaining to women's sociodemographic characteristics, women's menopausal status, some statements about the climacteric, use of hormones at menopause or before menopause, and some climacteric myths. The data was analyzed by Chi-square (x²) analysis and percent (%) ratios with a significant value of <it>P </it>< 0.05.</p> <p>Results</p> <p>The mean age of the women was 49.1 years. Over 90% of the women were of the negative opinion that the climacteric is "the end of youth", "the end of fecundity", and "the end of unclean days". Most women said that cessation of menstrual periods was the most positive thing because they do not have to wait for monthly bleedings, use sanitary equipment, or take birth control methods. There were significant connections between age groups and nearly all the items, with the exception of the items "the end of life" and "the end of fecundity". Among the women, hot flushes were the most common complaint occurring in 96.5% of women: being severe in 32.9%, moderate in 43.1% and mild in 20.4%. This was followed by low backache or muscle pain 95.0% (25.9% severe, 46.0% moderate and mild 23.1%), headache 91.7% (21.9% severe, 34.9% moderate and 34.9% mild) and feeling tired 91.0% (15.3% severe, 38.6% moderate and 37.1% mild).</p> <p>Conclusions</p> <p>Most of the women in this study had mixed ideas of opinions concerning the climacteric, and the majority was also suffering from climacteric complaints. This data could assist healthcare providers in the provision of culturally competent health care to midlife Turkish women.</p

A comparison of tourist evaluation of beaches in Malta, Romania and Turkey

The characteristics, perceptions, attitudes and behaviour of beach users at three locations: St George's Bay, Malta, Mamaia, Romania and Olu Deniz, Turkey, were determined from questionnaire surveys. Respondents comprised locals, domestic and foreign tourists. Results for these parameters had substantial agreement both across the three beaches and with previous studies. The amounts beach users were willing to pay (WTP), via the contingent valuation method and their consumer surpluses (CS), via the travel cost method were determined. The average amount beach users were willing to pay per visit, was £0.64 on St George's bay, £0.32 on Mamaia and £0.94 on Olu Deniz. The willingness to pay varied with social class, earnings, amount of beach use and between local, domestic and foreign user groups. The consumer surplus also varied for these groups as British tourists had a CS of £0.62 per visit, with domestic Turkish and Romanian users having values of £0.46 and £0.69, respectively. Diminishing marginal utility, as measured by WTP, with beach use was found in all three surveys. Charging for actual use would be acceptable for the majority of beach users. Coastal zone managers could realise significant revenues from beach users if they charge adults on a per visit basis (the favoured mode of payment) and spend the revenue on the maintenance and improvements identified by the users. Only one of the beaches (Olu Deniz, Turkey) currently has restricted access, which would facilitate such a payment method.peer-reviewe

Diagnostic value of diffusion weighted MRI and ADC in differential diagnosis of cavernous hemangioma of the liver.

Aims: To investigate the use of diffusion weighted magnetic resonance imaging (DWI) and the apparent diffusion coefficient (ADC) values in the diagnosis of hemangioma. Materials and methods: The study population consisted of 72 patients with liver masses larger than 1 cm (72 focal lesions). DWI examination with a b value of 600 s/mm2 was carried out for all patients. After DWI examination, an ADC map was created and ADC values were measured for 72 liver masses and normal liver tissue (control group). The average ADC values of normal liver tissue and focal liver lesions, the \u201ccut-off\u201d ADC values, and the diagnostic sensitivity and specificity of the ADC map in diagnosing hemangioma, benign and malignant lesions were researched. Results: Of the 72 liver masses, 51 were benign and 21 were malignant. Benign lesions comprised 38 hemangiomas and 13 simple cysts. Malignant lesions comprised 9 hepatocellular carcinomas, and 12 metastases. The highest ADC values were measured for cysts (3.782\ub10.53 710-3 mm2/s) and hemangiomas (2.705\ub10.63 710-3 mm2/s). The average ADC value of hemangiomas was significantly higher than malignant lesions and the normal control group (p&lt;0.001). The average ADC value of cysts were significantly higher when compared to hemangiomas and normal control group (p&lt;0.001). To distinguish hemangiomas from malignant liver lesions, the \u201ccut-off\u201d ADC value of 1.800 710-3 mm2/s had a sensitivity of 97.4% and a specificity of 90.9%. To distinguish hemangioma from normal liver parenchyma the \u201ccut-off\u201d value of 1.858 710-3 mm2/s had a sensitivity of 97.4% and a specificity of 95.7%. To distinguish benign liver lesions from malignant liver lesions the \u201ccut-off\u201d value of 1.800 710-3 mm2/s had a sensitivity of 96.1% and a specificity of 90.0%. Conclusion: DWI and quantitative measurement of ADC values can be used in differential diagnosis of benign and malignant liver lesions and also in the diagnosis and differentiation of hemangiomas. When dynamic examination cannot distinguish cases with vascular metastasis and lesions from hemangioma, DWI and ADC values can be useful in the primary diagnosis and differential diagnosis. The technique does not require contrast material, so it can safely be used in patients with renal failure. Keywords

Demographic characteristics, aetiology, and assessment of treatment options in leukocytoclastic vasculitis

A b s t r a c t Introduction: Vasculitides are a heterogeneous group of diseases characterized by inflammation of the blood vessel walls. Etiological factors include infections, drugs, connective tissue diseases, and malignancies. Aim: To examine the demographic characteristics, etiological factors, and treatment options in 75 patients with leukocytoclastic vasculitis. Material and methods: The study included 75 patients diagnosed with leukocytoclastic vasculitis at our clinic. The patients&apos; medical records were reviewed to determine their age, sex, presence of systemic symptoms, possible etiological factors, laboratory results, types of cutaneous lesions, locations of the lesions, treatment options, and disease course. Results: There were 43 women and 32 men. Cutaneous lesions affected only the lower limbs in 60 of the 75 patients (80%) and usually presented as palpable purpura (64%, n = 48). Arthralgia (26.7%, n = 20) was the most frequent extracutaneous symptom. Of the patients with secondary vasculitis, the most common causes were infections and drugs. The mean age of the patients with Henoch-Schönlein purpura was 26.8 years. There was no significant association between age and renal, gastrointestinal, or joint involvement. Conclusions: The most common form of vasculitis in our study was cutaneous leukocytoclastic vasculitis. In most of the patients it appeared to be idiopathic. Among drugs, antibiotics were the most common etiological factor. In 4 patients, the cutaneous leukocytoclastic vasculitis behaved like the paraneoplastic syndrome

The bouba/kiki effect is robust across cultures and writing systems

The bouba/kiki effect-the association of the nonce word bouba with a round shape and kiki with a spiky shape-is a type of correspondence between speech sounds and visual properties with potentially deep implications for the evolution of spoken language. However, there is debate over the robustness of the effect across cultures and the influence of orthography. We report an online experiment that tested the bouba/kiki effect across speakers of 25 languages representing nine language families and 10 writing systems. Overall, we found strong evidence for the effect across languages, with bouba eliciting more congruent responses than kiki. Participants who spoke languages with Roman scripts were only marginally more likely to show the effect, and analysis of the orthographic shape of the words in different scripts showed that the effect was no stronger for scripts that use rounder forms for bouba and spikier forms for kiki. These results confirm that the bouba/kiki phenomenon is rooted in crossmodal correspondence between aspects of the voice and visual shape, largely independent of orthography. They provide the strongest demonstration to date that the bouba/kiki effect is robust across cultures and writing systems. This article is part of the theme issue 'Voice modulation: from origin and mechanism to social impact (Part II)'.Peer reviewe

Point-of-Care Emergency Ultrasonography in Non-Traumatic Cardiac Arrest and Near-Arrest Emergency Patients; A Pilot Trial

Background: In this study, we evaluated the applicability and interpretation of point-of-care emergency ultrasound (POCEUS) performed by an emergency physician (EP) in non-traumatic adult cardiac arrest and near-arrest patients at presentation to the Emergency Department (ED).   Methods: POCEUS was performed in 5 steps on 73 adults to assess; 1. Qualitative global cardiac function, cardiac chambers and presence of pericardial effusion; 2. Presence of pleural sliding, B-lines, A-lines or consolidation on anterior-superior; 3. Presence of an abdominal aorta aneurysm and pelvic free fluid; 4. Presence of pleural effusion, consolidation, free fluid on lateral-inferior; 5. Qualitative width and collapsibility of the inferior vena cava. A fulfilled checklist and real-time images of ultrasonography were sent by WhatsApp to the head of the study to generate the evidence and collect the data. The process of patient care, in-hospital diagnosis and survival were retrieved from digital hospital records. This prospective multicenter sample study was conducted from November 16, 2015, to January 5, 2016.   Results: The most common findings of POCEUS were performed and interpreted to have a first prediction of patients’ acute clinic problem by EPs were compatible with global systolic dysfunction (n = 16, 22.9%), pulmonary edema (n = 17, 23.3%), pulmonary embolus (n = 6, 8.2%), distributive/hypovolemic shock (n = 12, 16.4%), cardiac tamponade or pericardial effusion (n = 5, 6.8%), and pneumonia (n = 31, 42.5%) at presentation. The kappa correlation coefficient value of the POCEUS at presentation versus the final, traditional clinical diagnosis of the admitted ward, was 0.773 (95% CI, 0.747–0.892; p = 0.064, McNemar).   Conclusions: POCEUS performed by an EP at presentation had a good agreement between in qualitative prediction of the first differential diagnosis in life-threatened patients and the last diagnosis obtained during hospitalization. Furthermore, this study showed the requirement of evidence in comparison of measurements to the qualitative manner and new descriptive processes in POCEUS for unexplained situations and questions

Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations

Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders. Here we presented dysmorphic facial features and other clinical characteristics in two patients with PEX1 gene mutation. Follow-up periods were 3.5 years and 1 year in the patients. Case I was one-year-old girl that presented with neurodevelopmental delay, hepatomegaly, bilateral hearing loss, and visual problems. Ophthalmologic examination suggested septooptic dysplasia. Cranial magnetic resonance imaging (MRI) showed nonspecific gliosis at subcortical and periventricular deep white matter. Case II was 2.5-year-old girl referred for investigation of global developmental delay and elevated liver enzymes. Ophthalmologic examination findings were consistent with bilateral nystagmus and retinitis pigmentosa. Cranial MRI was normal. Dysmorphic facial features including broad nasal root, low set ears, downward slanting eyes, downward slanting eyebrows, and epichantal folds were common findings in two patients. Molecular genetic analysis indicated homozygous novel IVS1-2A>G mutation in Case I and homozygous p.G843D (c.2528G>A) mutation in Case II in the PEX1 gene. Clinical findings and developmental prognosis vary in PEX1 gene mutation. Kabuki-like phenotype associated with liver pathology may indicate Zellweger spectrum disorders (ZSD)