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.

EFFECTS OF THE GONADOTROPIN-RELEASING HORMONE AGONIST THERAPY ON GROWTH AND BODY MASS INDEX IN GIRLS WITH IDIOPATHIC CENTRAL PRECOCIOUS PUBERTY.

Objective: We aimed to examine the auxological findings of girls diagnosed with idiopathic central precocious puberty (CPP) at the end of the GnRHa treatment and to investigate the effect of related factors on the height gain of those patients. Design: Single-center, descriptive, cross-sectional retrospective study. Method: A total of 43 patients who were diagnosed with idiopathic CPP and treated with GnRHa between 2012 - 2021 were included in to the study. Results: A decline in height standard deviation score (SDS) from 1.20 ± 0.14 to 1.02 ± 0.06 during the therapy was observed (P<0.001). The bone age/chronological age ratio was decreased and predictive adult height was increased at the end of the therapy (P<0.001; P=0.001). Both the rates of being overweight and obesity were increased (38.6% to 50% and 9% to 15.9%) when the treatment onset compared to the end of therapy. At the end of the treatment, the mean body mass index (BMI) SDS of the overweight patients was still higher compared to the normal-weight group (P<0.001). Conclusion: We observed a positive effect of GnRHa therapy on height potential. An increase in BMI during the therapy has been also demonstrated especially in subjects who were overweight before treatment.

Evaluation of Brain Volume Changes by Magnetic Resonance Imaging in Obstructive Sleep Apnea Syndrome.

BACKGROUND AND OBJECTIVES: The objective of this study was to evaluate potential morphological changes in the brain tissue of patients with severe obstructive sleep apnea syndrome (OSAS) in comparison with normal subjects by using T1-weighted magnetic resonance imaging (MRI) technique. MATERIAL AND METHODS: This study comprised subjects with severe OSAS with an apnea-hypopnea index (AHI) more than 30 and normal subjects with AHI less than 5 according to polysomnography findings. The study subjects were evaluated using Three Dimensional Magnetization Prepared Rapid Acquisition Gradient Echo sequence on T1-weighted MRI. FreeSurfer morphometric procedure was used as the automated segmentation method and in both cerebral and cerebellar hemsipheres and segmental volumes of brain were analyzed. RESULTS: Of the 22 patients with severe OSAS, 19 were male, three were female and their ages ranged between 40 and 60 years (mean age 50.27 ± 5.3 years). Of the 22 control subjects 19 were male, three were female and their ages ranged between 40 and 60 years (mean age 49.36 ± 6.95 years). There were no statistically significant differences in terms of age and sex properties between the groups. There was a statistically significant difference in BMI between the OSAS patients and the control group. There were statistically significant differences in polysomnographic features (time elapsed below 90% SaO2 (min), Epworth Sleepiness Scale, AHI, mean minimum SaO2 (%), mean O2 desaturation (%), and arousal index values) between the OSAS patients and the control group. CONCLUSIONS: The findings of our study indicated that even if severe, no structural changes occur in the course of mild, moderate, and severe OSAS.

[Vogt-Koyanagi-Harada Syndrome : An unusual case with lacquer crack-like retinal findings]. / Vogt-Koyanagi-Harada-Syndrom : Ein ungewöhnlicher Fall mit lacksprungähnlichen Netzhautbefunden.

We report the case of a 35-year-old female patient with bilateral and recurrent panuveitis. Diagnosed with Vogt-Koyanagi-Harada syndrome, the patient was treated with corticosteroids, achieving rapid improvement of functional and morphological findings. After recovery of the exudative retinal detachment, peripapillary lacquer crack-like findings were observed.

Clinical and Haematological Manifestations of Typhoid Fever in Children in Eastern Turkey.

OBJECTIVE: Typhoid fever can involve various organs, leading to a wide range of presentations: from uncomplicated to complicated typhoid fever. The haematological changes are common in typhoid fever and include anaemia, leucopaenia, thrombocytopaenia and bleeding diathesis. This study was undertaken in order to determine the clinical and haematological presentation of typhoid fever in children. METHODS: In this study, records of children and adolescents with typhoid fever aged under or equal to 16 years, admitted to Yuzuncu Yil University Hospital between 2010 and 2014, were analysed retrospectively. RESULTS: The cases (56%) were admitted to our hospital in July and October. Major symptoms of patients were abdominal pain (24%), arthralgia (21%) and fever (11%). In our study, decreased mean platelet volume (31%), eosinopaenia 20%), abnormal platelet count (19%), anaemia (16%), leucocytosis (16%) and eosinophilia (12%) were the most common haematological findings in the children. CONCLUSIONS: Typhoid fever is predominant in children at school age with a slight male predominance. Decreased mean platelet volume and abdominal pain might be useful as early diagnostic clues.

The microbiological diagnosis of tuberculous meningitis: results of Haydarpasa-1 study.

We aimed to provide data on the diagnosis of tuberculous meningitis (TBM) in this largest case series ever reported. The Haydarpasa-1 study involved patients with microbiologically confirmed TBM in Albania, Croatia, Denmark, Egypt, France, Hungary, Iraq, Italy, Macedonia, Romania, Serbia, Slovenia, Syria and Turkey between 2000 and 2012. A positive culture, PCR or Ehrlich-Ziehl-Neelsen staining (EZNs) from the cerebrospinal fluid (CSF) was mandatory for inclusion of meningitis patients. A total of 506 TBM patients were included. The sensitivities of the tests were as follows: interferon-γ release assay (Quantiferon TB gold in tube) 90.2%, automated culture systems (ACS) 81.8%, Löwenstein Jensen medium (L-J) 72.7%, adenosine deaminase (ADA) 29.9% and EZNs 27.3%. CSF-ACS was superior to CSF L-J culture and CSF-PCR (p <0.05 for both). Accordingly, CSF L-J culture was superior to CSF-PCR (p <0.05). Combination of L-J and ACS was superior to using these tests alone (p <0.05). There were poor and inverse agreements between EZNs and L-J culture (κ = -0.189); ACS and L-J culture (κ = -0.172) (p <0.05 for both). Fair and inverse agreement was detected for CSF-ADA and CSF-PCR (κ = -0.299, p <0.05). Diagnostic accuracy of TBM was increased when both ACS and L-J cultures were used together. Non-culture tests contributed to TBM diagnosis to a degree. However, due to the delays in the diagnosis with any of the cultures, combined use of non-culture tests appears to contribute early diagnosis. Hence, the diagnostic approach to TBM should be individualized according to the technical capacities of medical institutions particularly in those with poor resources.

The effects of L type calcium channels on the electroencephalogram recordings in WAG/RIJ rat model of absence epilepsy.

BACKGROUND: Epilepsy is one of the most important central nervous system disorder and 1% of the total world population suffers from this disorder which require a chronic drug treatment. Most of the researchers suggested that excessive calcium entry into neurons is the main triggering event in the initiation of epileptic discharges but the role of L type calcium channels has not been clarified in absence epilepsy. AIM: In this study, it is aimed to investigate the antiepileptic effects of nifedipine, an L type calcium channel blocker and BAY K8644, an L type calcium channel opener in a genetic model of absence epilepsy in WAG/Rij rats. MATERIALS AND METHODS: Thirty two WAG/Rij rats were allocated into four groups; sham (only saline injected), only nifedipine (an L type calcium channel blocker) injected group (40 µg/2 µl; 60 µg/2 µl; 80 µg/2 µl), only BAY K8644 (1,4 Dihydro-2,6-dimethyl-5-nitro-4-trifluoromethyl- phenyl-3-pyridine carboxylic acid methyl ester) (L-type Ca2+-channel activator) injected group (40 µg/2 µl; 60 µg/2 µl; 80 µg/2 µl) and combination of their most effective doses BAY K8644 (60 µg/2 µl) after nifedipine (60 µg/2 µl) injected group. All agents were given by intracerebroventricular injection. The beta, alpha, theta and delta wave ratios of electroencephalogram recordings and the frequency and duration of SWDs (spike and wave discharges) were analyzed and compared between four groups. RESULTS: Nifedipine increased the number and duration of spike wave discharges whereas BAY K8644 decreased both of them. When BAY K8644 was given after nifedipine, there was no significant difference with control group. CONCLUSIONS: L type calcium channels play an activator role on spike wave discharges and have positive effects on the duration and frequency.

Correlation between hippocampal volume and excessive daytime sleepiness in obstructive sleep apnea syndrome.

BACKGROUND/AIM: The limbic system, specifically the hippocampus, plays a key role in controlling the sleep-wake cycle. Changes in these particular structures of the central nervous system have been suggested to be related to obstructive sleep apnea syndrome (OSAS). We hypothesized that reduced hippocampal volume is a risk factor for excessive daytime sleepiness (EDS) in OSAS. PATIENTS AND METHODS: Twenty-two patients with newly diagnosed OSAS and 20 healthy controls were included in the present study. Polysomnography was performed for each participant to determine the presence of OSAS. EDS was defined based on the Epworth sleepiness scale (ESS) score, and patients were grouped as sleepy or non-sleepy according to this score. The hippocampal volume was calculated by MR volumetry using a manual tracing technique. RESULTS: There was no significant difference between groups in demographic variables. The hippocampus was markedly smaller in the OSAS groups than in controls (p < 0.001 Hippocampal volume was negatively correlated with the ESS score (r = -0.631, p = 0.002). CONCLUSIONS: Our findings suggest that EDS is associated with reduced hippocampal volume in OSAS.

Naturally occurring cutaneous anthrax: antibiotic treatment and outcome.

OBJECTIVES: Cutaneous anthrax (CA) is the most common clinical presentation in human anthrax, but the duration of antibiotic therapy in naturally occurring CA is controversial. The aim of this study was to compare the clinical outcomes of patients receiving antibiotic treatment for either 3-5 days (group 1) or 7-10 days (group 2) in uncomplicated CA. METHODS: A total of 66 patients were enrolled; 29 (44%) in group 1 and 37 (56%) in group 2. Infections were classified as mild (n = 22, 33%) or severe (n = 44, 67%) CA. RESULTS: There were no significant differences between the groups in symptom resolution time, fever clearance time, healing of lesions, development and healing of eschars, requirement for surgical intervention or the development of complications. Both edema resolution time and duration of hospital stay were longer in group 2. There were no therapeutic failures, relapses or deaths in either group. Steroid therapy was used in 32% of patients with severe CA, but a beneficial effect on resolution of edema was not demonstrated. CONCLUSIONS: These results suggest that short-course antibiotic therapy is as effective as standard-duration therapy in uncomplicated CA and that steroid therapy may not be effective.

Phase-contrast MRI and 3D-CISS versus contrast-enhanced MR cisternography for the detection of spontaneous third ventriculostomy.

PURPOSE: To compare the diagnostic efficacies of phase-contrast MRI (PC-MRI) and three-dimensional constructive interference in steady-state (3D-CISS) sequence for the detection of spontaneous third ventriculostomy (STV) on the basis of contrast-enhanced MR cisternography (MRC). PATIENTS AND METHODS: Eleven obstructive hydrocephalus patients with clinically-radiologically suspected STV and ten controls were examined by PC-MRI, 3D-CISS and MRC. PC-MRI and 3D-CISS sequence were applied to view the third ventricle and basal cisterns. Following injection of 0.5-1ml intrathecal Gd-DTPA injection, postcontrast MRC images were obtained in three planes. Presence of STV was scored as follows: grade 0, no existence of STV; grade 1, STV present. Results of PC-MRI and 3D-CISS were compared with the MRC findings. RESULTS: In PC-MRI, five patients were assessed as grade 0 and six cases grade 1. As a result of 3D-CISS sequence, eight cases were evaluated as grade 0 and three cases grade 1. Based on MRC, nine cases were assessed as grade 0 and two cases grade 1. False positivity was found in four cases by PC-MRI and in one case by 3D-CISS. The sensitivity, specificity and accuracy of PC-MRI and 3D-CISS sequence regarding demonstration of STV, were 100, 100, 56, 89, 64, and 91% respectively. DISCUSSION: PC-MRI and 3D-CISS are helpful in confirming the STV. PC-MRI and 3D-CISS should be the first preference. If PC-MRI and 3D-CISS give negative results, then MRC is not required. MRC should be performed on patients who demonstrate suspected STV findings on PC-MRI and 3D-CISS sequences. MRC may prevent false positive results.

Proton MR spectroscopy and white matter hyperintensities in idiopathic normal pressure hydrocephalus and other dementias.

The differentiation of idiopathic normal-pressure hydrocephalus (INPH) from other types of dementia is a clinical challenge. The aim of this prospective study was to evaluate the role of proton MR spectroscopy (MRS) and white matter hyperintensities (WMH) in the diagnosis of INPH, predicting response to therapy and differentiating INPH from other dementias. The study included 18 patients with INPH (Group 1), 11 patients with other types of dementia (Group 2) and 20 control patients (Group 3). The value of WMH scores and MRS findings in diagnosis, evaluation of response to therapy and in the differentiation of INPH from other dementias was statistically evaluated. The level of statistical significance was set at p<0.05 (Kruskal-Wallis and Mann-Whitney U-test). In both Groups 1 and 2, N-acetylaspartate (NAA)/choline-NAA/creatine ratios were significantly less than in the control group (p<0.05). The WMH and MRS findings of Groups 1 and 2 demonstrated no statistically significant correlation (p>0.05). No correlation was found between the outcome of shunt operations and WMH and MRS findings (p>0.05). In conclusion, neither WMH nor MRS were useful in differentiating INPH from other types of dementia. WMH and MRS showed no additional benefit in identifying INPH patients who will better respond to shunt therapy.

Solitary metastases and high-grade gliomas: radiological differentiation by morphometric analysis and perfusion-weighted MRI.

AIM: To evaluate the value of morphometric analysis and perfusion-weighted magnetic resonance imaging (MRI) in differentiating solitary metastases from high-grade gliomas. MATERIALS AND METHODS: Forty-eight tumours (22 high-grade gliomas and 26 solitary hemispheric metastases) were evaluated using conventional and perfusion-weighted MRI. T2-weighted, gradient-echo, echo-planar sequences were used for perfusion-weighted MRI. Relative cerebral blood volume (rCBV) ratios were calculated by dividing the rCBV of the intratumoural and peritumoural areas with the average CBV value of the normal white matter areas. Morphometric analysis was carried out by proportioning the area of peritumoural oedema to the mass area. Mann-Whitney U test and ROC curve analysis were applied for statistical analysis. P<0.05 was accepted as statistically significant. RESULTS: Mean rCBV ratios of intratumoural areas of high-grade gliomas and metastases were 5.02+/-2.47 and 4.62+/-2.46, respectively. No statistically significant difference was found (p=0.515). rCBV ratios of peritumoural oedema were 0.89+/-0.51 in high-grade gliomas and 0.31+/-0.12 in metastases. The difference was statistically significant (p<0.001). According to the results of morphometric analysis, a statistically significant difference was present between the two tumour types (p<0.001). CONCLUSION: Measuring the oedema: mass and rCBV ratios of the oedema surrounding the tumour prior to operation in solitary masses proved to be useful for differentiating metastases from high-grade gliomas.

The contribution of 3D-CISS and contrast-enhanced MR cisternography in detecting cerebrospinal fluid leak in patients with rhinorrhoea.

The aim of this prospective study was to evaluate the value of unenhanced (three-dimensional constructive interference in steady state (3D-CISS)) and contrast-enhanced MR cisternography (CE-MRC) in detecting the localisation of cerebrospinal fluid (CSF) leak in patients with rhinorrhoea. 17 patients with active or suspected CSF rhinorrhoea were included in the study. 3D-CISS sequences in coronal and sagittal planes and fat-suppressed T1-weighted spin-echo sequences in three planes before and after intrathecal contrast media administration were obtained. Images were obtained of the cribriform plate and sphenoid sinus. In addition, high-resolution CT (HRCT) was performed in order to evaluate the bony elements. The leak was present in 9/17 patients with 3D-CISS and 10/17 patients with CE-MRC. The leak from the cribriform plate to the nasal cavity in six patients and from the sphenoid sinus in four patients was nicely shown by CE-MRC. Eight of those patients were surgically treated, but spontaneous regression of the symptoms in two precluded any intervention. The leak localisations shown with CE-MRC were fully compatible with surgical results. The sensitivities of HRCT, 3D-CISS and CE-MRC for showing CSF leakage were 88%, 76% and 100%, respectively. In conclusion, 3D-CISS is a non-invasive and reliable technique, and should be the first-choice method to localise CSF leak. CE-MRC is helpful in conditions when there is no leak or in complicated cases with a positive beta2-transferrin measurement.

An unusual complication of femoral vein catheterisation: pneumoperitoneum.

A 2-month-old girl with severe pneumonia required a central venous line. Femoral vein catheterisation was attempted but insertion was difficult. Pneumoperitoneum developed, which is a rare complication of femoral vein catheterisation. It is important when undertaking femoral vein catheterisation to use the correct landmarks in the femoral triangle below the inguinal ligament and an appropriate size of catheter.