Malar rash and hand tremor in early symptoms of cerebrotendinous xanthomatosis and the effect of chenodeoxycholic acid on them.

BACKGROUND: Cerebrotendinous xanthomatosis (CTX, OMIM #213700) is a rare but treatable lipid storage disease resulting from mutations in the CYP27A1 gene. PURPOSE: The study aims to evaluate patients diagnosed with CTX and reveal new information, especially about the signs of CTX and patients' response to the treatment. METHODS: The study was conducted retrospectively in 12 definitively diagnosed CTX patients. The patients' clinical, laboratory, imaging, genetic findings, and chenodeoxycholic acid (CDCA) treatment results were analyzed. RESULTS: The median age at diagnosis for the patients was 16.5 years (minimum-maximum: 7-32). Juvenile cataracts, detected in more than 90% (11/12) of the patients, were the most common clinical finding. Malar rash, not previously reported in the literature for CTX, was present in 75% (9/12) of the patients. Hand tremors, the first neurological symptom, occurred in adolescence and were the initial symptom of the disease in five patients. Hand tremors were present in 83.3% (10/12) of the patients. Hand tremors (in 5 patients) and malar rash (in 2 patients) were clinical findings with full recovery due to the CDCA treatment. CONCLUSION: The study defines the malar rash finding, which has not been reported in the literature before, as a possible new clinical finding in CTX disease, attributed to its partial or full recovery with CDCA treatment. Additionally, as a novelty in the literature, our study highlights the full recovery of neurological findings, such as hand tremors, in CTX. Patients presenting with hand tremors and malar rash, especially in adolescence, should undergo CTX investigation for early diagnosis and treatment.

Proton pump inhibitors may reduce the efficacy of ribociclib and palbociclib in metastatic breast cancer patients based on an observational study.

INTRODUCTION: Approximately 20-33% of all cancer patients are treated with acid-reducing agents (ARAs), most commonly proton pump inhibitors (PPIs), to reduce gastroesophageal reflux disease symptoms. Palbociclib and ribociclib are weak bases so their solubility depends on different pH. The solubility of palbociclib dramatically decreases to < 0.5 mg/ml when pH is above 4,5 but ribociclibs' solubility decreases when pH increases above 6,5. In the current study, we aimed to investigate the effects of concurrent PPIs on palbociclib and ribociclib efficacy in terms of progression-free survival in metastatic breast cancer (mBC) patients. PATIENTS AND METHODS: We enrolled hormone receptor-positive, HER2-negative mBC patients treated with endocrine treatment (letrozole or fulvestrant) combined palbociclib or ribociclib alone or with PPI accompanying our observational study. During palbociclib/ribociclib therapy, patients should be treated with "concurrent PPIs" defined as all or more than half of treatment with palbociclib/ribociclib, If no PPI was applied, it was defined as 'no concurrent PPI', those who used PPI but less than half were excluded from the study. All data was collected from real-life retrospectively. RESULTS: Our study included 217 patients, 105 of whom received palbociclib and 112 received ribociclib treatment. In the study population CDK inhibitor treatment was added to fulvestrant 102 patients ( 47%), to letrozole 115 patients (53%). In the Palbociclib arm fulvestrant/letrozole ratio was 53.3/46.7%, in the ribociclib arm it was 41.07/58.93%. Of 105 patients who received palbociclib, 65 were on concomitant PPI therapy, 40 were not. Of the 112 patients who received ribociclib, 61 were on concomitant PPI therapy, 51 were not. In the palbociclib group, the PFS of the patients using PPIs was shorter than the PFS of the patients not using (13.04 months vs. unreachable, p < 0.001). It was determined that taking PPIs was an independent predictor of shortening PFS (p < 0.001) in the multivariate analysis, In the ribociclib group, the PFS of the patients using PPIs was shorter than the PFS of the patients not using (12.64 months vs. unreachable, p = 0.003). It was determined that taking PPIs was single statistically independent predictor of shortening PFS (p = 0.003, univariate analysis). CONCLUSIONS: Our study demonstrated that concomitant usage of PPIs was associated with shorter PFS in mBC treated with both ribociclib and especially palbociclib. If it needs to be used, PPI selection should be made carefully and low-strength PPI or other ARAs (eg H2 antagonists, antacids) should be preferred.

Longitudinally extensive transverse myelitis in childhood: Clinical features, treatment approaches, and long-term neurological outcomes.

AIM: Longitudinally extensive transvers myelitis (LETM) is a rare and disabling condition in childhood. The aim of the present study was to share experiences from our center regarding the treatment features and clinical and radiologic course in our LETM patients in light of the literature data. MATERIAL AND METHOD: The study was designed as cross-sectional and included children who followed for LETM at our pediatric neurology clinic between 2010 and 2019. ATM was diagnosed according to the diagnostic criteria report from the Transverse Myelitis Consortium Working Group. LETM was defined as the presence of spinal cord lesions spanning a length of 3 or more consecutive vertebral segments. The patients' medical records were examined in terms of demographic characteristics, presenting symptoms, history of infection prior to and during LETM, prodromal history, neurological examination, laboratory and radiological findings, clinical course, and treatment. The Barthel Index was used to assess the physical independence in activities of daily living of patients with LETM who were followed for at least one year. RESULTS: A total of 15 (8 girl) patients were included in the study. The patients were between 1 and 17 years of age. Presenting symptoms included inability to walk in 12 patients, incontinence in 9 patients, low back pain in 4 patients, abdominal pain in 2 patients, and inability to use the arms in 2 patients. In Barthel Index assessment of physical independence in activities of daily living, 8 patients were evaluated as completely independent, 3 patients as moderately dependent, and 2 patients as slightly dependent. When the 4 patients with motor area impairment and moderate dependency according to the Barthel Index were examined, it was noted that all of them had been admitted 4 days after the onset of symptoms and that 2 (13.3%) had cervicothoracic involvement and 2 (13.3%) had involvement of the entire cord. CONCLUSION: Shorter delay from symptom onset to initiation of immunomodulatory therapy as well as effective rehabilitation resulted in favorable outcomes, with the most noticeable improvement in the areas of motor function and incontinence.

Polyurethane foam (PUF) disk passive samplers derived polychlorinated biphenyls (PCBs) concentrations in the ambient air of Bursa-Turkey: Spatial and temporal variations and health risk assessment.

Polyurethane foam (PUF) passive samplers were employed to assess air concentrations of polychlorinated biphenyls (PCBs) in background, agricultural, semi-urban, urban and industrial sites in Bursa, Turkey. Samplers were deployed for approximately 2-month periods from February to December 2014 in five sampling campaign. Results showed a clear rural-agricultural-semi-urban-urban-industrial PCBs concentration gradient. Considering all sampling periods, ambient air concentrations of Σ43PCBs ranged from 9.6 to 1240 pg/m3 at all sites with an average of 24.1 ± 8.2, 43.8 ± 24.4, 140 ± 190, 42.8 ± 24.6, 160 ± 280, 84.1 ± 105, 170 ± 150 and 280 ± 540 pg/m3 for Mount Uludag, Uludag University Campus, Camlica, Bursa Technical University Osmangazi Campus, Hamitler, Agakoy, Kestel Organised Industrial District and Demirtas Organised Industrial District sampling sites, respectively. The ambient air PCB concentrations increased along a gradient from background to industrial areas by a factor of 1.7-11.4. 4-Cl PCBs (31.50-81.60%) was the most dominant homologue group at all sampling sites followed by 3-Cl, 7-Cl, 6-Cl and 5-Cl homologue groups. Sampling locations and potential sources grouped in principal component analysis. Results of PCA plots highlighted a large variability of the PCB mixture in air, hence possible related sources, in Bursa area. Calculated inhalation risk levels in this study indicated no serious adverse health effects. This study is one of few efforts to characterize PCB composition in ambient air seasonally and spatially for urban and industrial areas of Turkey by using passive samplers as an alternative sampling method for concurrent monitoring at multiple sites.

Assessment of t2-weighted coronal magnetic resonance images in the investigation of pituitary lesions.

Magnetic resonance imaging is the most important diagnostic method in the investigation of the pituitary lesions. Our aim is to determine whether T2-weighted coronal images may be helpful in the evaluation of the pituitary gland with suspected pituitary adenomas. One hundred and sixty-seven patients were examined prospectively with T2-weighted coronal and T1-weighted coronal images enhanced with intravenous contrast material. The images were evaluated for the presence, the size, the location, and the ancillary signs including sellar floor erosion or ballooning, infindibulary deviation, convexity of the superior border of the gland, diffuse enlargement of the gland, and the invasion of the cavenous sinuses on both images. In forty-six (28%) patients lesions were revealed on both sequences. In twenty-one (12%) patients the lesions that were revealed on the T1-weighted images were not detected on the T2-weighted images. Positive predictive value, negative predictive value, sensitivity, specificity, and diagnostic accuracy rates of T2-weighted coronal images on the detection of the presence of lesions were 100%, 17.4%, 68.7%, 100%, and 87.4%, respectively. Both T2-weighted coronal and T1-weighted coronal images enhanced with intravenous gadolinium-based contrast material are important in the diagnosis of pituitary adenomas. T2-weighted coronal images could be used as a screening tool for the primary evaluation of the pituitary gland.

The role of late-phase pulse inversion harmonic imaging in the detection of occult hepatic metastases.

OBJECTIVE: The purpose of this study was to investigate the efficacy of late-phase pulse inversion harmonic imaging (PIHI) in detecting occult metastases and to compare the results with helical computed tomography (CT) in a group of patients whose fundamental liver sonographic results were normal. METHODS: Thirty-two patients (21 women and 11 men; age range, 20-87 years) with a known primary malignancy were enrolled in the study. The patients were evaluated with conventional sonography, unenhanced PIHI, and PIHI 3 minutes after the injection of Levovist (SH U 508A; Schering AG, Berlin, Germany). All patients also underwent triphasic helical CT within 1 week after sonography. In 1 patient, mangafodipir-enhanced magnetic resonance imaging was performed as part of the clinical workup. RESULTS: After Levovist injection, in 4 (12.5%) of 32 patients, at least 1 hypoechoic lesion was detected by PIHI; multiple lesions were shown in 1 patient. The mean diameter of newly detected lesions was 12 mm. Triphasic helical CT also showed all of the lesions that were detected by PIHI. The diagnoses were confirmed by biopsy and CT findings in 2 patients and by the typical CT and magnetic resonance imaging findings in 1 patient. For the fourth patient, the diagnosis was confirmed by follow-up and CT. Conclusions. Late-phase PIHI is comparable to helical CT for detecting occult hepatic metastases, but it protects patients from the potentially hazardous effects of radiation and iodinated contrast agents. Further series involving a larger number of patients are needed to determine its place in the evaluation of cancer staging and treatment planning.

Characterization of hyperechoic focal liver lesions: quantitative evaluation with pulse inversion harmonic imaging in the late phase of levovist.

OBJECTIVE: The aim of this study was to evaluate hyperechoic focal liver lesions with pulse inversion harmonic imaging in the late phase of SH U 508A (Levovist; Schering AG, Berlin, Germany) and to determine whether quantitative evaluation improves the characterization of the lesions. METHODS: Twenty-six patients with hyperechoic liver lesions were enrolled in this study. Pulse inversion harmonic imaging was performed before and after administration of Levovist. Scan data were digitally stored, and each lesion was analyzed with a personal computer-based quantification package. All lesions were confirmed by histologic or triphasic spiral computed tomographic examinations. The intensity was measured in decibels in regions of interest drawn within the lesion and surrounding liver parenchyma. The lesion-liver ratios were than calculated. After contrast agent administration, a ratio equal to or greater than 1 was presumed benign, whereas a ratio of less than 1 was considered malignant. RESULTS: Nine malignant (7 metastases, 1 hepatocellular carcinoma, and 1 cholangiocarcinoma) and 17 benign (14 hemangioma, 1 focal nodular hyperplasia, 1 focal fatty change, and 1 inflammatory pseudotumor) hyperechoic lesions were quantitatively evaluated. All malignant (n = 9) and 2 benign lesions (1 hemangioma and 1 inflammatory pseudotumor) had ratios of less than 1. In 15 of 17 benign lesions, the ratios were equal to or greater than 1. The intensity ratios calculated for benign and malignant lesions showed a statistically significant difference (P < .05). CONCLUSIONS: Pulse inversion harmonic imaging with quantitative evaluation facilitates the differential diagnosis of hyperechoic focal liver lesions. A lesion-liver ratio equal to or greater than 1 predicts a benign nature, assuming that malignant lesions show a ratio of less than 1.

Diagnostic value of contrast-enhanced fluid-attenuated inversion recovery MR imaging of intracranial metastases.

BACKGROUND AND PURPOSE: Postcontrast fluid-attenuated inversion recovery (FLAIR) imaging effectively depicts parenchymal and leptomeningeal metastases, as reported in limited patient groups. We compared postcontrast T1-weighted (T1W) and FLAIR imaging in a larger group. METHODS: Sixty-nine patients with known malignancy and suspected cranial metastases underwent axial FLAIR and spin-echo T1W imaging with and then without intravenous gadopentetate dimeglumine. Postcontrast images were compared for lesion conspicuity and enhancement, number of parenchymal metastases, and extension of leptomeningeal-cisternal metastases. RESULTS: Parenchymal metastases were demonstrated in 33 patients. Compared with T1W images, postcontrast FLAIR images showed more metastases in five patients, an equal number in 20, and fewer lesions in eight. Regarding lesion conspicuity, postcontrast FLAIR imaging was superior in five patients, equal in one, and inferior in 27. For enhancement, FLAIR imaging was superior in five, equal in five, and inferior in 23. Superior FLAIR results for lesion number, conspicuity, and enhancement were observed in the same five patients; in these patients, FLAIR imaging was performed as the second postcontrast sequence. Eleven patients had leptomeningeal-cisternal metastases; lesion conspicuity, extension, and enhancement were superior on postcontrast FLAIR images in eight. In five of eight patients, FLAIR imaging was performed as the second postcontrast sequence. Four patients had cranial-nerve metastases; in three, postcontrast FLAIR imaging was superior for lesion conspicuity and extension. In two of these patients, FLAIR imaging was the second postcontrast sequence. CONCLUSION: Postcontrast FLAIR imaging is a valuable adjunct to postcontrast T1W imaging. Precontrast and postcontrast FLAIR imaging effectively delineates parenchymal metastases, particularly leptomeningeal-cisternal and cranial-nerve metastases.