scholarly journals The Association between EEG Abnormality and Behavioral Disorder: Developmental Delay in Phenylketonuria

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Parvaneh Karimzadeh ◽  
Mohammad Reza Alaee ◽  
Hadi Zarafshan
Keyword(s):  
Developmental Delay ◽  
Behavioral Disorders ◽  
Clinical Manifestations ◽  
Behavioral Disorder ◽  
Screening Tests ◽  
Eeg Abnormalities ◽  
Significant Difference ◽  
Epileptic Discharges ◽  
History Of

Background. Brain defect leading to developmental delay is one of the clinical manifestations of phenylketonuria. The aim of this study was to evaluate the association between EEG abnormality and developmental delay/behavioral disorders in phenylketonuria. Patients and Methods. 105 phenylketonuria patients, who were diagnosed through newborn screening tests or during follow-up evaluation, were enrolled. Patients who were seizure-free for at least six months before the study were included. The developmental score were evaluated by the ASQ questionnaire (age-stage questionnaire) and the test of child symptom inventory-4 (CSI-4), respectively. Results. 55 patients had a history of seizure more than 6 months before the study. Seventy had abnormal EEG (cases) and 35 had normal EEG (controls). There was no significant difference between mean phenylalanine levels in the abnormal and normal EEG groups at the time of diagnosis, after six months and at our evaluation. Distribution of DQ level in the abnormal and normal EEG groups revealed a significant difference. An abnormal EEG was associated with a higher percentage of low DQ levels. Conclusion. Paroxysmal epileptic discharges in PKU patients are important. Treatment of these EEG abnormalities may affect developmental scores or may lead to correction of some behavioral disorders in patients.

628 Longitudinal Association between NREM Sleep Depth and Arousability with ADHD and Internalizing Disorders in Adolescence

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A246-A247
Author(s):  
Anna Ricci ◽  
Julio Fernandez-Mendoza ◽  
Fan He ◽  
Susan Calhoun ◽  
Magdy Younes ◽  
...  
Keyword(s):  
Behavioral Disorders ◽  
Nrem Sleep ◽  
Internalizing Disorders ◽  
Developmental Trajectory ◽  
Sleep Eeg ◽  
Behavioral Disorder ◽  
Sleep Depth ◽  
Transition To Adolescence ◽  
Psychoactive Medications

Abstract Introduction Sleep depth decreases in the transition from childhood to adolescence, even in typically developing (TD) youth. However, it remains unknown whether this developmental trajectory in NREM sleep depth differs across adolescents with psychiatric/behavioral disorders. Methods We analyzed the sleep EEG of 392 subjects aged 5–12 at baseline and 12–22 at follow-up (45.2% female, 23.2% racial/ethnic minority), of whom 246 were TD adolescents (controls), 62 were diagnosed with a psychiatric/behavioral disorder and were taking stimulant, anti-depressant, anxiolytic, sedative and/or anti-psychotic medications, and 84 were un-medicated. NREM sleep depth was measured at both time points using the odds ratio product (ORP), which provides a standardized continuous EEG measure of NREM sleep depth/arousability (higher ORP reflects lighter NREM sleep). General linear models examined mean differences between groups on the percent change in ORP between baseline and follow-up (ΔORP) while adjusting for sex, race/ethnicity, age, BMI and AHI at follow-up, and PSG system, psychiatric/behavioral disorders, psychoactive medications and ORP at baseline as well as time-to-follow-up. Results Overall, medicated (80.4%, 95%CI=66.2–94.6) and un-medicated (66.1%, 95%CI=53.0–79.1) subjects showed a higher ΔORP compared to controls (52.2%, 95%CI=40.0–64.5, p<0.01 and p<0.05, respectively) but did not differ between each other (p=0.134). Specifically, un-medicated subjects with ADHD (n=56) showed a higher ΔORP (77.3%, 95%CI=62.4–92.1) compared to controls (p<0.01), while subjects with ADHD on stimulant medication (n=36) did not differ (66.1%, 95%CI=48.9–93.2) from controls (p=0.268) or from un-medicated ADHD subjects (p=0.303). Subjects with internalizing disorders on psychoactive medications (n=29) showed a higher ΔORP (104.9%, 95%CI=82.8–127.0) compared to controls (p<0.01) and to un-medicated subjects (n=27) with internalizing disorders (60.1%, 95%CI=36.8–83.3, p<0.01), who did not differ from controls (p=0.772). Conclusion The greater increase in ORP in the transition to adolescence in un-medicated youth with ADHD suggests that decreased NREM sleep depth may be a biomarker of the disorder. In contrast, the greater increase in ORP in medicated youth with internalizing disorders suggests that psychoactive medications impact NREM sleep depth in these children as they transition to adolescence. These data have important implications for sleep EEG studies that include medicated and un-medicated youth with comorbid psychiatric disorders. Support (if any) NIH Awards Number R01MH118308, R01HL136587, R01HL97165, R01HL63772, UL1TR000127

scholarly journals Creutzfeldt–Jakob disease-like syndrome induced by gabapentin toxicity

2010 ◽  
Vol 1 (1) ◽  
pp. 3 ◽  
Author(s):  
Vicky Chau ◽  
Sadhana Prasad ◽  
Dwight Stewart ◽  
George Heckman
Keyword(s):  
Cognitive Impairment ◽  
Drug Toxicity ◽  
Clinical Manifestations ◽  
Drug Induced ◽  
Eeg Abnormalities ◽  
Negative Myoclonus ◽  
History Of ◽  
Jakob Disease ◽  
Neurological Effects ◽  
Gait Abnormalities

Patients with Creutzfeldt–Jakob disease (CJD) may exhibit characteristic abnormalities on the electroencephalogram (EEG). However, these abnormalities have been associated with a number of cases of drug toxicity. We report a case of CJD-like syndrome associated with gabapentin. A 78-year-old man was hospitalized for recurrent falls. Three months prior to admission, gabapentin was prescribed to treat symptoms of trigeminal neuralgia. The patient subsequently presented with a two-month history of worsening gait abnormalities, negative myoclonus, and cognitive impairment. The EEG showed diffuse background slowing with larger amplitude delta discharges, which at times appeared triphasic, raising the possibility of CJD. The gait abnormalities and myoclonus resolved and the EEG normalized after the gabapentin was discontinued. Several cases of drug-induced CJD-like syndrome have been reported, mainly presenting with cognitive impairment, myoclonus, Parkinsonism, and EEG abnormalities. This patient may have been predisposed to adverse neurological effects from gabapentin owing to age, concurrent renal insufficiency, and cardiac disease. We concluded that it is imperative to include drug toxicity in the differential diagnosis of patients presenting with clinical manifestations and EEG findings suggestive of CJD, particularly in the setting of advanced age and comorbidities.

scholarly journals The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective

Biomolecules ◽  
2020 ◽  
Vol 10 (2) ◽  
pp. 182 ◽  
Author(s):  
Nicolai P. Ostberg ◽  
Mohammad A. Zafar ◽  
Bulat A. Ziganshin ◽  
John A. Elefteriades
Keyword(s):  
Genetic Basis ◽  
Surgical Intervention ◽  
Clinical Manifestations ◽  
Aortic Aneurysms ◽  
Screening Tests ◽  
Cellular Mechanisms ◽  
Biomechanical Stress ◽  
Thoracic Aortic Aneurysms ◽  
Aortic Aneurysm And Dissection ◽  
History Of

Thoracic aortic aneurysm and dissection (TAAD) affects many patients globally and has high mortality rates if undetected. Once thought to be solely a degenerative disease that afflicted the aorta due to high pressure and biomechanical stress, extensive investigation of the heritability and natural history of TAAD has shown a clear genetic basis for the disease. Here, we review both the cellular mechanisms and clinical manifestations of syndromic and non-syndromic TAAD. We particularly focus on genes that have been linked to dissection at diameters <5.0 cm, the current lower bound for surgical intervention. Genetic screening tests to identify patients with TAAD associated mutations that place them at high risk for dissection are also discussed.

Single Centre Experience in Patients with Primary Hyperparathyroidism: Sporadic, Lithium-associated and in Multiple Endocrine Neoplasia

2019 ◽  
Vol 128 (10) ◽  
pp. 693-698
Author(s):  
Sabine Dillenberger ◽  
Detlef K. Bartsch ◽  
Elisabeth Maurer ◽  
Peter Herbert Kann
Keyword(s):  
Primary Hyperparathyroidism ◽  
Multiple Endocrine Neoplasia ◽  
University Hospital ◽  
Primary Surgery ◽  
Endocrine Neoplasia ◽  
Single Centre Experience ◽  
Significant Difference ◽  
History Of ◽  
The University

Abstract Purpose It is assumed that primary hyperparathyroidism (pHPT) in Multiple Endocrine Neoplasia (MEN) and lithium-associated pHPT (LIHPT) are associated with multiple gland disease (MGD), persistence and recurrence. The studies purpose was to determine frequencies, clinical presentation and outcome of sporadic pHPT (spHPT), LIHPT and pHPT in MEN. Additional main outcome measures were the rates of MGD and persistence/recurrence. Methods Retrospective analysis of medical records of 682 patients with pHPT who had attended the University Hospital of Marburg between 01–01–2004 and 30–06–2013. All patients were sent a questionnaire asking about their history of lithium medication. Results Out of 682 patients, 557 underwent primary surgery (532 spHPT, 5 LIHPT, 20 MEN), 38 redo-surgery (31 spHPT, 7 MEN), 55 were in follow-up due to previous surgery (16 spHPT, 1 LIHPT, 38 MEN) and 37 were not operated (33 spHPT, 1 LIHPT, 3 MEN). Primary surgeries were successful in 97.4%, revealed singular adenomas in 92.4%, double adenomas in 2.9% and MGD in 3.4% of the cases. Rates of MGD in MEN1 (82.35%) were significantly higher than in spHPT (3.8%), while there was no significant difference between LIHPT (20%) and spHPT. Rates of persistence/recurrence did not significantly differ due to type of surgery (bilateral/unilateral) or type of HPT (spHPT/LIHPT/MEN). Conclusions History of lithium medication is rare among pHPT patients. While MGD is common in MEN1, rates of MGD, persistence or recurrence in LIHPT were not significantly higher than in spHPT.

scholarly journals Immunoglobulin G4-related sclerosing cholangitis mimicking cholangiocarcinoma: a case report and literature review

2020 ◽  
Vol 48 (10) ◽  
pp. 030006052095921
Author(s):  
Cheng Xu ◽  
Yongmei Han
Keyword(s):  
Sclerosing Cholangitis ◽  
Plasma Cells ◽  
Elevated Serum ◽  
Clinical Manifestations ◽  
Immunoglobulin G4 ◽  
Igg4 Related Disease ◽  
Serum Igg4 ◽  
History Of ◽  
The Common

Immunoglobulin G4 (IgG4)-related disease (IgG4-RD) is a novel clinical disease that is characterized by elevated serum IgG4 concentrations and tumefaction or tissue infiltrated by IgG4+ plasma cells. The clinical manifestations of IgG4-RD depend on the type of tissues affected. IgG4-related sclerosing cholangitis is a type of IgG4-RD. We report a patient who initially visited a local hospital with a 5-month history of jaundice. He was found to have a mass in the upper part of the common bile duct that mimicked cholangiocarcinoma. He underwent surgery in our hospital and was later diagnosed with IgG4-related sclerosing cholangitis. We administered prednisolone 40 mg once a day for treatment. Taking into account the possible side effects of moderate-dose hormone therapy, we also administered teprenone, potassium chloride, and calcium carbonate. The patient did not have any recurrence of symptoms or adverse drug reactions during follow-up.

scholarly journals Whole-Body SPECT/CT versus Planar Bone Scan with Targeted SPECT/CT for Metastatic Workup

2017 ◽  
Vol 2017 ◽  
pp. 1-8 ◽  
Author(s):  
Olivier Rager ◽  
René Nkoulou ◽  
Nadia Exquis ◽  
Valentina Garibotto ◽  
Claire Tabouret-Viaud ◽  
...  
Keyword(s):  
Bone Metastases ◽  
Whole Body ◽  
Significant Difference ◽  
Planar Images ◽  
History Of ◽  
Bone Scans ◽  
Base Of The Skull ◽  
History Of Cancer ◽  
Higher Sensitivity

Purpose. The use of SPECT/CT in bone scans has been widespread in recent years, but there are no specific guidelines concerning the optimal acquisition protocol. Two strategies have been proposed: targeted SPECT/CT for equivocal lesions detected on planar images or systematic whole-body SPECT/CT. Our aim was to compare the diagnostic accuracy of the two approaches. Methods. 212 consecutive patients with a history of cancer were referred for bone scans to detect bone metastases. Two experienced readers randomly evaluated for each patient either planar images with one-field SPECT/CT targeted on equivocal focal uptakes (targeted SPECT/CT) or a whole-body (two-field) SPECT/CT acquisition from the base of the skull to the proximal femurs (whole-body SPECT/CT). The exams were categorized as “nonmetastatic,” “equivocal,” or “metastatic” on both protocols. The presence or absence of any extra-axial skeletal lesions was also assessed. The sensitivity and specificity of both strategies were measured using the results of subsequent imaging follow-up as the reference standard. Results. Whole-body SPECT/CT had a significantly higher sensitivity than targeted SPECT/CT to detect bone metastases (p=0.0297) and to detect extra-axial metastases (p=0.0266). There was no significant difference in specificity among the two approaches. Conclusion. Whole-body SPECT/CT is the optimal modality of choice for metastatic workup, including detection of extra-axial lesions, with improved sensitivity and similar specificity compared to targeted SPECT/CT.

scholarly journals Levels of TB-IGRA may help to differentiate between intestinal tuberculosis and Crohn’s disease in patients with positive results

2020 ◽  
Vol 13 ◽  
pp. 175628482092200
Author(s):  
Yujie Zhao ◽  
Meilin Xu ◽  
Liang Chen ◽  
Zhanju Liu ◽  
Xiaomin Sun
Keyword(s):  
Weight Loss ◽  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Intestinal Tuberculosis ◽  
Clinical Manifestations ◽  
Final Analysis ◽  
Interferon Gamma Release Assay ◽  
Significant Difference ◽  
History Of ◽  
Diagnosis Criteria

Aim: The aim of this study was to investigate the significance of positive tuberculosis interferon gamma release assay (TB-IGRA) in the differential diagnosis of intestinal tuberculosis (ITB) and Crohn’s disease (CD) patients, and to find a suitable threshold to help distinguishing CD from tuberculosis (TB), so as to provide better recommendations for clinical treatment. Methods: A retrospective study was performed including 484 patients who underwent TB-IGRA testing for suspected CD or ITB treated in the Shanghai Tenth People’s Hospital of Tongji University between January 2015 and May 2018. According to the diagnostic criteria, 307 patients, including 272 CD and 35 ITB patients, were recruited for the final analysis. We comprehensively and systematically collected their clinical manifestations, and analyzed the influence of TB-IGRA values referring to diagnosis criteria, and the possible causes of false positives. The receiver operator characteristic (ROC) curve and the cut-off value were applied to distinguish between ITB and CD patients. Results: Of the 56 patients with suspected CD enrolled, 23 were finally diagnosed with CD and 33 with ITB. In patients with TB-IGRA ⩾ 100 pg/ml, 4 cases were CD and 29 cases were ITB, while 19 cases were CD and 4 cases were ITB in patients with TB-IGRA < 100 pg/ml ( p < 0.05). TB-IGRA ⩾ 100 pg/ml indicated a high possibility of TB infection, with a sensitivity of 88% and a specificity of 74%. Three out of the four CD patients with TB-IGRA ⩾ 100 pg/ml had a history of tuberculosis, while only 1 of the 19 CD patients with TB-IGRA < 100 pg/ml had a history of tuberculosis ( p < 0.05). The average duration of ITB was 7 months, and that of CD was 46.8 months, thus a significant difference ( p < 0.05) was observed. Perianal lesions such as anal fistula or abscess were found in all CD patients. Among ITB patients, 8 out of 15 patients with TB-IGRA ⩾ 400 pg/ml experienced weight loss, while only 1 out of 18 patients with TB-IGRA < 400 pg/ml underwent weight loss ( p < 0.05). Conclusion: Patients with CD have longer duration of disease, and perianal lesions are more common in CD. ITB patients with TB-IGRA ⩾ 400 pg/ml experience weight loss more readily, which indicates that TB-IGRA value may be correlated positively with the severity of ITB. In patients with CD and ITB, TB-IGRA = 100 pg/ml may be a cut-off value of TB-IGRA. For patients with TB-IGRA ⩾ 100 pg/ml, it is recommended to use diagnostic anti-TB treatment first. Comprehensive analysis and judgment are required for patients with TB-IGRA from 14 pg/ml to 99 pg/ml. TB-IGRA false positivity may occur in patients with a history of TB infection.

scholarly journals Arterial thrombosis as primary presentation of endogenous Cushing’s syndrome

2019 ◽  
Vol 12 (2) ◽  
pp. bcr-2018-227491
Author(s):  
Vijay Alexander ◽  
Maria Koshy ◽  
Riddhi Dasgupta ◽  
Ronald Albert Carey
Keyword(s):  
Cushing’S Syndrome ◽  
Arterial Thrombosis ◽  
Clinical Manifestations ◽  
Dynamic Mri ◽  
Cushing's Syndrome ◽  
Positron Emission ◽  
History Of ◽  
Laboratory Investigations ◽  
Primary Presentation

Cushing’s syndrome is known to present with a characteristic set of clinical manifestations and complications, well described in literature. However, hypercoagulability remains an under recognised entity in Cushing’s syndrome. A 31-year-old woman from Southern India presented with history of fever, left upper quadrant pain and progressive breathing difficulty for 3 weeks. Clinical examination revealed discriminatory features of Cushing’s syndrome. Laboratory investigations showed biochemical features of endogenous ACTH-dependent Cushing’s syndrome. Imaging of the abdomen revealed splenic collection, left-sided empyema and extensive arterial thrombosis. Gadolinium enhanced dynamic MRI of the pituitary gland revealed no evidence of an adenoma while a Ga-68 DOTATATE positron emission tomography CT scan ruled out an ectopic Cushing’s. A diagnosis of endogenous Cushing’s syndrome causing a prothrombotic state with extensive arterial thrombosis was made. She was initiated on oral anticoagulation and oral ketoconazole for medical adrenal suppression. She subsequently underwent bilateral adrenalectomy and was well at follow-up.

Long Term Follow-Up of Pediatric Sickle Cell Disease Patients with Conditional Velocities on Transcranial Doppler (TCD).

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 2338-2338
Author(s):  
Lena Coïc ◽  
Suzanne Verlhac ◽  
Emmanuelle Lesprit ◽  
Emmanuelle Fleurence ◽  
Francoise Bernaudin
Keyword(s):  
Risk Factors ◽  
Color Doppler ◽  
Significant Risk ◽  
Biological Data ◽  
Treatment Intensification ◽  
Significant Difference ◽  
History Of ◽  
The Mean

Abstract Abnormal TCD defined as high mean maximum velocities &gt; 200 cm/sec are highly predictive of stroke risk and justify long term transfusion program. Outcome and risk factors of conditional TCD defined as velocities 170–200 cm/sec remains to be described. Patients and methods Since 1992, 371 pediatric SCD patients (303 SS, 44 SC, 18 Sß+, 6 Sß0) were systematically explored once a year by TCD. The newborn screened cohort (n=174) had the first TCD exploration between 12 and 18 months of age. TCD was performed with a real-time imaging unit, using a 2 MHz sector transducer with color Doppler capabilities. Biological data were assessed at baseline, after the age of 1.5 years and remotely of transfusion or VOC. We report the characteristics and the outcome in patients (n=43) with an history of conditional TCD defined by mean maximum velocities ranging between 170 and 200 cm/s in the ACM, the ACA or the ICA. Results: The mean follow-up of TCD monitoring was 5,5 years (0 – 11,8 y). All patients with an history of conditional doppler were SS/Sb0 (n=43). Mean (SD) age of patients at the time of their first conditional TCD was 4.3 years (2.2) whereas in our series the mean age at abnormal TCD (&gt; 200 cm/sec) occurrence was 6.6 years (3.2). Comparison of basal parameters showed highly significant differences between patients with conditional TCD and those with normal TCD: Hb 7g4 vs 8g5 (p&lt;0.001), MCV 82.8 vs 79 (p=0.047). We also had found such differences between patients with normal and those with abnormal TCD (Hb and MCV p&lt; 0.001). Two patients were lost of follow-up. Two patients died during a trip to Africa. Conditional TCD became abnormal in 11/43 patients and justified transfusion program. Mean (SD) conversion delay was 1.8 (2.0) years (range 0.5–7y). No stroke occurred. 16 patients required a treatment intensification for other indications (frequent VOC/ACS, splenic sequestrations): 6 were transplanted and 10 received HU or TP. Significant risk factors (Pearson) of conversion to abnormal were the age at time of conditional TCD occurrence &lt; 3 y (p&lt;0.001), baseline Hb &lt; 7g/dl (p=0.02) and MCV &gt; 80 (p=0.04). MRI/MRA was performed in 31/43 patients and showed ischemic lesions in 5 of them at the mean (SD) age of 7.1 y (1.8) (range 4.5–8.9): no significant difference was observed in the occurrence of lesions between the 2 groups. Conclusions This study confirms the importance of age as predictive factor of conditional to abnormal TCD conversion with a risk of 64% when first conditional TCD occured before the age of 3 years. TCD has to be frequently controled during the 5 first years of life.

Essential Thrombocythemia: Analysis of Risk Factors for Thrombotic Events in a Series of 306 Patients.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 4937-4937
Author(s):  
Franca Radaelli ◽  
Stefania Bramanti ◽  
Mariangela Colombi ◽  
Alessandra Iurlo ◽  
Alberto Zanella
Keyword(s):  
Risk Factors ◽  
Cardiovascular Risk ◽  
Cardiovascular Risk Factors ◽  
Essential Thrombocythemia ◽  
Thrombotic Event ◽  
Previous History ◽  
Significant Difference ◽  
Platelet Number ◽  
History Of

Abstract Essential thrombocythemia (ET) is a chronic myeloproliferative disorder characterized by peripheral thrombocytosis and abnormal proliferation of megakariocytes in the bone marrow. Even thought thrombosis is frequently associated to ET, the risk factors of this clinical complication are still controversial. The aim of this retrospective, single institution study was to investigate clinical and laboratory characteristics associated with the occurrence of thrombotic events, with the purpose of identifying subgroups of patients who could benefit from antiaggregant and/or cytostatic treatment. 306 consecutive ET patients (109 men and 197 females, median age 58 yr) diagnosed between January 1979 and December 2002 were included in the study. At the time of analysis, 196 patients were still alive with a median follow up of 96 months. The following variables were investigated for the association with thrombotic complications: age, platelet count, previous history of thrombotic events, time from diagnosis, treatment with antiaggregant/cytostatic drugs, and cardiovascular risk factors such as arterial hypertension, obesity, hypercolesterolemia, diabetes, cigarette smoking. At the time of last follow up, 46 patients (15%) experienced at least one thrombotic event. The occurrence of thrombotic events was observed in 26/64 (40.6%) patients with previous history of thrombosis and in 20/242 (8.3%) patients with no previous history of thrombosis (p&lt;0.0001 Fisher’s exact test, odd ratio 7.6). A significant difference between the two groups of patients was also confirmed when Kaplan Meier estimates of thrombosis-free survival were compared by log-rank test (p&lt;0.0001). By logistic regression, platelet number at diagnosis did not associate with occurrence of thrombosis in the whole patient population. When patients without previous history of thrombosis were stratified according to the number of cardiovascular risk factors (none vs one vs more than one), a significant correlation with occurrence of thrombotic events was observed (Mantel-Haenszel Chi-square 5.47, p&lt;0.05). This study confirms that history of thrombosis is strongly related with risk of further thrombotic events in patients with ET, whereas platelet number at diagnosis does not seem to represent a prognostic factor. In patients with no previous history of thrombosis, the presence of other cardiovascular risk factors has to be taken into account when establishing the therapeutic approach.

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