High frequency of transient congenital hypothyroidism among infants referred for suspected congenital hypothyroidism from the Turkish National screening program: thyroxine dose may guide the prediction of transients.

PURPOSE: We aimed to determine the frequency of transient congenital hypothyroidism (TCH) in 17 participating centers in Türkiye, evaluate the etiological distribution in permanent congenital hypothyroidism (PCH) cases, and investigate the role of laboratory and clinical findings in predicting TCH. METHODS: This retrospective observational multicenter study included patients from 17 pediatric endocrinology centers identified by "National Newborn Screening Program" (NNSP) who were born in 2015 and followed for 6 years. Demographic, clinical, and laboratory information of the cases were compiled through the database http://cedd.saglik-network.org (CEDD-NET). RESULTS: Of the 239 cases initially treated for CH, 128 (53.6%) were determined as transient in whom a trial of levothyroxine (LT4) withdrawal was performed at a median age of 36 (34-38) months. Among the patients with PCH (n = 111), thyroid dysgenesis was diagnosed in 39.6% (n = 44). The predictive factors for TCH were: LT4 dose at the withdrawal of treatment, and initial newborn blood screening (NBS)-TSH level. Based on the receiver operating characteristic (ROC) curve analysis to predict optimal cut-offs for TCH predictors, LT4 dose < 2.0 µg/kg/day at treatment discontinuation was predictive for TCH and was associated with 94.5% specificity and 55.7% sensitivity, with an area under the curve (AUC) of 0.802. The initial NBS-TSH level value < 45 µIU/mL was predictive for TCH with 93.1% specificity and 45.5% sensitivity, with an AUC of 0.641. In patients with eutopic thyroid gland only LT4 dose < 1.1 µg/kg/day at withdrawal time was predictive for TCH with 84.7% sensitivity and 40.4% specificity, with an AUC of 0.750. CONCLUSION: According to our national follow-up data, the frequency of TCH was 53.6%. We determined the LT4 dose < 2.0 µg/kg/day at discontinuation of treatment and the initial NBS-TSH level < 45 µIU/mL as the best cut-off limits to predict TCH.

Assessment of nail findings in children with atopic dermatitis.

BACKGROUND: Cutaneous findings are well known in atopic dermatitis (AD), but nail changes have not received as much attention. AIM: To determine the clinical and disease-related capillaroscopic findings of nail findings in paediatric patients with AD. METHODS: In total, 100 participants aged 2-16 years were sourced from the dermatology outpatient clinic: 50 of these had been diagnosed with AD according to the Hanifin-Rajka criteria, and the others were 50 healthy controls (HCs) without AD. The AD severity score (SCORing Atopic Dermatitis; SCORAD) was calculated for all patients with AD. A digital epiluminescence device was used for nailfold capillaroscopy. RESULTS: The nail findings detected in patients with AD were pitting, punctate leuconychia, trachyonychia, onycholysis and onychomadesis. Pitting was significantly (P < 0.01) more frequent in the patient group (26%) than in the HC group (6%). Similarly, the patient group had significantly higher rates for capillary density decrease (P < 0.01), capillary array irregularity (P < 0.001), capillary dilatation increase (P < 0.001), tortuosity (P = 0.04), ramification increase (P = 0.02), bush-like appearance (P = 0.02) and avascular areas (P < 0.01). Significant correlations were determined between pitting and trachyonychia (P < 0.05, r = 0.21), capillary density decrease (P < 0.05, r = 0.25), avascular areas (P < 0.001; r = 0.29) and SCORAD (P < 0.05, r = 0.35). CONCLUSION: The nailfold capillaroscopic images of children with AD were similar to those of scleroderma spectrum disorder. Thus, we believe it would be beneficial to support detailed clinical examination of patients with a capillaroscopic examination.

A nano-microstructured artificial-hair-cell-type sensor based on topologically graded 3D carbon nanotube bundles.

A design for a unique artificial-hair-cell-type sensor (AHCTS) based entirely on 3D-structured, vertically aligned carbon nanotube (CNT) bundles is introduced. Standard microfabrication techniques were used for the straightforward micro-nano integration of vertically aligned carbon nanotube arrays composed of low-layer multi-walled CNTs (two to six layers). The mechanical properties of the carbon nanotube bundles were intensively characterized with regard to various substrates and CNT morphology, e.g. bundle height. The CNT bundles display excellent flexibility and mechanical stability for lateral bending, showing high tear resistance. The integrated 3D CNT sensor can detect three-dimensional forces using the deflection or compression of a central CNT bundle which changes the contact resistance to the shorter neighboring bundles. The complete sensor system can be fabricated using a single chemical vapor deposition (CVD) process step. Moreover, sophisticated external contacts to the surroundings are not necessary for signal detection. No additional sensors or external bias for signal detection are required. This simplifies the miniaturization and the integration of these nanostructures for future microsystem set-ups. The new nanostructured sensor system exhibits an average sensitivity of 2100 ppm in the linear regime with the relative resistance change per micron (ppm µm(-1)) of the individual CNT bundle tip deflection. Furthermore, experiments have shown highly sensitive piezoresistive behavior with an electrical resistance decrease of up to ∼11% at 50 µm mechanical deflection. The detection sensitivity is as low as 1 µm of deflection, and thus highly comparable with the tactile hair sensors of insects, having typical thresholds on the order of 30-50 µm. The AHCTS can easily be adapted and applied as a flow, tactile or acceleration sensor as well as a vibration sensor. Potential applications of the latter might come up in artificial cochlear systems. In particular, the stable mechanical bending of the sensor up to 90° opens up unique application opportunities.

Prognostic factors that affect the response to topical treatment in patchy alopecia areata.

BACKGROUND: Alopecia areata (AA) is an organ-specific, T-cell-mediated autoimmune disease that is characterized by non-scarring hair loss. OBJECTIVE: We aimed to find the factors that may affect the response to topical therapy in AA. METHODS: The study included a total of 60 patients with AA and 30 healthy control patients. The AA patients were randomized into two groups. 40 patients used 0.05% clobetasol propionate cream, and 20 patients used petrolatum (placebo). Both groups applied topical treatments to their lesions twice daily for 12 weeks. RESULTS: The mean extent of AA was 21.88 ± 16.75% in patients with autoantibodies and 12.16 ± 13.55% in those who were negative for autoantibodies (P = 0.021). Ophiasic pattern and nail involvement were observed more frequently in patients with atopy (P < 0.05). Relapse was more frequent in patients with atopy (P = 0.002) and nail involvement (P = 0.02). CONCLUSIONS: We observed that the presence of autoantibodies was associated with more extensive AA, and that ophiasic hair loss pattern and nail dystrophy were significantly associated with atopy. Topical clobetasol propionate treatment produced a modest advantage in hair regrowth as compared with placebo. Notably, atopic AA patients have a higher risk of relapse and redevelopment of AA after completing a course of topical corticosteroid treatment.

Does hepcidin play a role in the pathogenesis of aphthae in Behçet's disease and recurrent aphthous stomatitis?

BACKGROUND: Aphthae constitute one of the major signs in Behçet's disease (BD) and recurrent aphthous stomatitis (RAS). No scientific study has yet explored the relationship of hepcidins, which have antimicrobial effects, with RAS and BD. OBJECTIVES: In this study, we aimed to evaluate by immunohistochemistry whether hepcidin is synthesized by the salivary glands and to measure levels of prohepcidin and hepcidin (an antibacterial peptide) in the serum and saliva of patients with BD and RAS. METHODS: The study included 25 BD patients and 30 RAS patients, as well as a control group comprising 25 healthy individuals. Serum and saliva samples were collected at the same time from all subjects. Levels of prohepcidin and hepcidin were measured by ELISA. The presence of hepcidin in salivary glands was assessed by immunohistochemistry. RESULTS: Hepcidin was localized in the striated ducts of the sublingual and parotid glands. Saliva prohepcidin and hepcidin levels were correlated with blood levels. Saliva prohepcidin levels were found to be lower in RAS patients than in BD patients and healthy controls (P < 0.001 and P = 0.007 respectively). In addition, RAS patients had lower saliva hepcidin levels than did the control group (P = 0.03). CONCLUSIONS: The lower serum and saliva prohepcidin and hepcidin concentrations found in RAS and BD patients indicate that hepcidin may be involved in the aetiopathogenesis of these diseases. Because it can be obtained non-invasively and easily, saliva may provide a useful alternative to serum in quantifying prohepcidin and hepcidin concentrations.

Audiological abnormalities in patients with alopecia areata.

BACKGROUND: Audiological abnormalities seen in various autoimmune disorders raises the question of whether such abnormalities also exist in alopecia areata. OBJECTIVE: This study was performed to detect possible audiological abnormalities in Alopecia areata (AA) patients. METHODS: The study population consisted of 51 patients with AA and 51 healthy controls. Autoscopic and audiometric examinations of both ears were performed in patients and controls. Audiometric examinations were performed using a pure tone audiometer in a silent cabin. Pure tone thresholds were determined for each ear at frequencies of 250-16000 Hz for air conduction. RESULTS: Sensorineural hypoacusis was found in 28 patients with AA (54.9%). Six of these 28 patients showed unilateral minimal hearing loss (>30 dB) at high frequencies only (4000-16 000 Hz), while 22 showed bilateral minimal hearing loss (>30 dB) at high frequencies only (4000-16 000 Hz). Hypoacusis was observed in 13 control subjects (25.4%). Sensorineural hypoacusis was significantly more frequent in AA patients than controls (P = 0.002). CONCLUSION: Follicular melanocytes may be an important target in the autoimmune process of AA and AA may have an effect on hearing function by affecting the melanocytes in the inner ear. Therefore, there may be a relationship between sensorineural hearing loss and the autoimmune disease, AA.

Behcet disease and pregnancy.

PURPOSE: Behcet disease (BD) is a multisystemic vaculitis commonly diagnosed in reproductive years. The authors aimed to investigate the relationship between BD and pregnancy outcomes. MATERIALS AND METHODS: In this multicenter retrospective survey study, the authors compared the pregnancy outcomes of BD patients with the healthy controls. RESULTS: A total of 298 pregnancies of 94 patients with BD and 219 pregnancies of 95 healthy controls were evaluated. The mean birth weight of all babies of women with BD and the control group were 3,214 grams and 3,351 grams, respectively (p = 0.028). The miscarriage rates were also higher in the BD group. The com- plication rates of pregnancy with hypertension, preeclampsia, preterm labour in the study group and the control group were 12.8% and 11.6%, respectively (p = 0.489). CONCLUSION: The current study demonstrated that BD patients delivered smaller babies and they have higher miscarriage rates when compared to the healthy controls which might be due to the vasculitis of the placenta.

Increased frequency of restless legs syndrome in atopic dermatitis.

BACKGROUND: Restless legs syndrome (RLS) is characterized by an unpleasant sensation in the legs, which is difficult to describe, but produces an urge to move the legs frequently. AIM: To assess the prevalence and severity of RLS in patients with atopic dermatitis (AD) and patients with psoriasis, and to investigate the factors potentially associated with RLS. METHODS: In total, 253 people were enrolled (120 with AD, 50 with psoriasis and 83 healthy controls). A diagnosis of RLS was made according to the criteria of the International RLS Study Group (IRLSSG), and severity was assessed using the IRLSSG severity scale. RESULTS: RLS was significantly more common in patients with AD (40.8%) than in patients with psoriasis (18.0%) or in controls (10.8%) (P<0.01 and P<0.001, respectively). Prevalence of RLS was higher in patients with active AD than in those with inactive AD (55.3% vs. 23.6%) or controls. There was a significant difference in RLS prevalence between patients with active and those with iactive AD, between patients with active AD and healthy controls, between patients with active AD and patients with psoriasis, and between patients with inactive AD and healthy controls (P<0.001, P<0.001, P<0.001, P=0.04, respectively). There was no significant difference in RLS prevalence between patients with active AD and patients with psoriasis, or between patients with psoriasis and healthy controls (P>0.05). Of patients who were positive for RLS, 56.9% had a family history of atopy and 40.3% had a family history of RLS, and there was a significant relationship between the presence of RLS and family history of atopy or RLS (P<0.001 for both). CONCLUSIONS: RLS is common in patients with AD, particularly in those with active disease.

Does autonomic dysfunction play a role in atopic dermatitis?

BACKGROUND: Atopic dermatitis (AD) is a chronic dermatitis characterized by intense itching and excessive skin dryness. The factor most commonly blamed for the pathogenesis of skin dryness in the disease is impaired barrier function of the stratum corneum. However, there are findings indicating that the autonomic nervous system, and the sympathetic nervous system in particular, is affected negatively in AD, and thus, autonomic dysfunction can be an important factor leading to skin dryness. OBJECTIVE: In this study we aimed to evaluate the functioning of the autonomic nervous system electrophysiologically using R-R interval variation (RRIV) and the sympathetic skin response (SSR) in patients with AD, and to examine whether there is an underlying autonomic nervous system dysfunction. PATIENTS AND METHODS: The study registered a total of 38 (12 males and 26 females) patients with AD, of whom 24 had active and 14 inactive disease, and 20 (10 males and 10 females) healthy control subjects. RRIV was used in our study as the electrophysiological test to evaluate the parasympathetic system. The SSR method, which is a noninvasive electrophysiological test with a significant role in evaluating the sudomotor activity of skin, as well as that of the unmyelinated fibres that take a part in this activity, was employed to assess the sympathetic nervous system. RESULTS: Our study revealed a significantly prolonged SSR latency and amplitude of the upper extremity in the patient group, relative to the control group (P < 0.05). When the group with active skin lesions was compared with the control group, the former was found to have prolonged SSR latency and amplitude in the upper extremity. The prolongation in SSR latency of the upper extremity was statistically significant (P < 0.05), while the prolongation in amplitude was not (P = 0.5). An evaluation of RRIV results did not show a significant difference between the patient and control groups. CONCLUSIONS: These findings demonstrate that the sudomotor activity controlled by the sympathetic nervous system, as well as unmyelinated fibres that play a role in this activity are affected in patients with AD. We think that the involvement of sudomotor activity may be one of the causes that leads to dysfunction in sweat glands and skin dryness.

Role of CYP2C9 and CYP2C19 polymorphisms in patients with atherosclerosis.

The arachidonic acid metabolizing CYP enzymes with prominent roles in vascular regulation are epoxygenases of the two gene family which generate epoxyeicosatrienoic acids. Carriers of CYP2C9 mutant alleles exhibit a diminished CYP2C9 metabolic capacity leading to decreased endothelium-derived hyperpolarizing factors (EDHF) synthesis and an increased risk for atherosclerosis. We investigated whether the polymorphisms of CYP2C9/19 are related with atherosclerosis. We examined 108 patients having angioraphically > or =70 coronary artery narrowing and 90 healthy controls. CYPC2C9/19*2 and CYP2C9/19*3 alleles were investigated in both patients and controls by a real time PCR instrument. There was no significant difference in the distribution of the CYP2C9*2/*3 alleles between cases and the controls. We found that smoker patients having CYP2C9*2 heterozygote genotype have 3.7-fold risk of developing atherosclerosis. CYP2C19*3 heterozygote alleles are more frequent in patients than in controls (10.2%, 5.6% respectively) and it is related with a three-fold risk of atherosclerosis (odds ratio (OR) = 3.75, confidence interval (CI) = 0.75-18.65). It becomes clear that cigarette smoking can cause almost all major diseases prevalent today, such as cancer or heart disease. This inter-subject variability in cigarette-induced pathologies is partly mediated by genetic variants of genes that may participate in detoxification processes, e.g., cytochrome P450 (CYP), cellular susceptibility to toxins, such as p53, or disease development such as atherosclerosis.

Increased nitric oxide in exhaled air in patients with rheumatic heart disease.

BACKGROUND: Endogenous production of nitric oxide and its presence in exhaled air was observed in humans. Prior studies have yielded contrasting information about the production of nitric oxide in patients with heart failure. AIMS: The aim of this study was to measure nitric oxide in the exhaled air of patients with chronic rheumatic heart disease with and without pulmonary hypertension. METHODS: Seventy-four patients (6 patients had isolated mitral stenosis; 13 patients had combined mitral stenosis and mitral regurgitation; 1 patient had isolated mitral regurgitation; 54 patients had combined mitral and aortic valve disease) and 27 healthy subjects were entered in the study. The nitric oxide concentration in exhaled air was determined with a chemiluminescence analyser. Echocardiography was performed in all patients to assess the severity of the valve disease and for the measurement of pulmonary artery pressure. RESULTS: The level of exhaled nitric oxide was significantly greater in patients with rheumatic heart disease than in controls. The value of nitric oxide concentration in exhaled air was significantly increased in patients with pulmonary hypertension, as compared with patients who had normal pulmonary artery systolic pressure. CONCLUSION: We found increased nitric oxide in the exhaled air in patients with rheumatic heart disease, especially in those with pulmonary hypertension, compared with healthy patients.

Treatment and follow-up of persistent granulomatous cheilitis with intralesional steroid and metronidazole.

Granulomatous cheilitis (GC) is a chronic edema which frequently affects the upper lip due to granulomatous inflammation. Its etiology is currently unknown. This rare disease is generally accompanied by Melkersson-Rosenthal syndrome (MRS), characterized by scrotal tongue, orofacial edema and facial paralysis. However, it is also known to develop only with orofacial edema. Granulomatous cheilitis is a difficult disease to treat because of recurrences. There are contradictory reports about the results of treatment without surgical intervention and the rates of recurrence. Our case was a 57-year-old female patient who was characterized by orofacial edema only. The edema and erythema had persisted for 1 year before admission. In the present case, application of intralesional corticosteroid treatment as a total of three injections over 3 consecutive months (one injection per month) and the accompanying metronidazole treatment brought about successful results. No recurrence was observed in the follow-up.

Obstructive sleep apnoea and its association with left ventricular function and aortic root parameters in newly diagnosed, untreated patients: a prospective study.

This prospective study investigated whether untreated obstructive sleep apnoea-hypopnoea syndrome (OSAHS), which is strongly associated with cardiovascular disease, is a risk factor for left ventricular (LV) systolic and diastolic dysfunction and aortic root dilatation. Ninety consecutive patients with breathing and snoring problems, including 64 with newly diagnosed, untreated OSAHS, were classified into four groups based on their apnoea-hypopnoea index (AHI). All participants underwent overnight polysomnographic and complete echocardiographic examinations, and LV systolic, diastolic and aortic measurements were compared. Body mass index was the only demographic characteristic that significantly increased as the severity of OSAHS (AHI) increased and it significantly correlated with AHI. Patients with a higher AHI had a significantly higher aortic root diameter and aortic stiffness index, and significantly lower aortic strain. The LV diastolic parameters were least favourable in patients with more severe OSAHS. The LV ejection fraction did not differ significantly between groups. It was concluded that LV diastolic function and aortic elastic parameters deteriorate with OSAHS.

Papillary fibroelastoma of mitral valve: a rare cause of transient ischemic attack in the young.

We report the case of a young Turkish man with a transient ischemic attack secondary to a rare cardiac tumor, papillary fibroelastoma. The tumor was diagnosed by 2-dimensional echocardiography and treated surgically.

Dynamic left ventricular outflow tract obstruction in a patient with pheochromocytoma.

Symmetric left ventricular hypertrophy or asymmetric septal hypertrophy associated with pheochromocytoma simulating hypertrophic obstructive cardiomyopathy have been rarely reported. In this report, we present a case with pheochromocytoma that had dynamic left ventricular outflow tract obstruction without asymmetric septal hypertrophy. A surface echo revealed resolution of the systolic anterior motion of the mitral valve and all Doppler evidence of left ventricular outflow tract obstruction following removal of the tumor. Dynamic left ventricular outflow tract obstruction seen in this patient was probably due to excessive secretion of cathecolamines by the tumor.

Traumatic ventricular septal defect and mitral insufficiency after a Kebab's shish wound to the chest.

Transthoracic echocardiography has an important role in the assessment of patients with penetrating chest trauma. We report the case of 19-year-old boy who sustained a kebab's shish wound to the chest. Transthoracic echocardiography revealed a defect in the interventricular septum and a defect in the anterior mitral valve. Both of them were closed with direct sutures.

Left atrial appendage function in patients with mitral stenosis in sinus rhythm.

AIMS: Left atrial appendage thrombi are believed to be the source of embolism in patients with rheumatic mitral stenosis in atrial fibrillation. There are a few studies which search the effects of left atrial appendage dysfunction in patients with mitral stenosis in sinus rhythm. METHODS AND RESULTS: Left atrial appendage function and flow patterns in 41 patients with rheumatic mitral stenosis in sinus rhythm and 11 healthy subjects were studied by transoesophageal echocardiography. Left atrial appendage flow profiles were recorded within the proximal third of the appendage. The left atrial appendage ejection fraction was expressed as (maximal area of appendage minimal area of appendage)/maximal area of appendage. In addition, two-dimensional imaging was used to determine the presence of spontaneous echocardiographic contrast and thrombus formation. Patients with mitral stenosis in sinus rhythm had significantly decreased left atrial appendage emptying and filling velocities compared to controls (0.40+/-0.15m/s vs 0.82+/-0.19 m/s and 0.42+/-0.21 m/s vs 0.68+/-0.28, respectively, P<0.001 and P<0.05). Compared with the control subjects, patients with mitral stenosis had significantly greater maximal area of the appendage and had reduced left atrial appendage ejection fraction (5.3+/-2.2 cm(2) vs 2.4+/-0.5 cm(2) and 50+/-16% vs 70+/-7%, respectively, P<0.001 and P<0.05). Of the patients with mitral stenosis in sinus rhythm, seven patients had spontaneous echocardiographic contrast and one of these had left atrial appendage thrombus. Compared with patients without spontaneous echocardiographic contrast, patients with spontaneous echocardiographic contrast had decreased left atrial appendage ejection fraction (33+/-21% vs 54+/-13%,P <0.01). One of the patients with mitral stenosis had central retinal artery occlusion, but thrombus was not observed in left atrial appendage. CONCLUSION: The study found that left atrial appendage dysfunction may occur in patients with mitral stenosis in sinus rhythm.