scholarly journals Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature

2021 ◽  
pp. 1-10
Author(s):  
Kerri Bosfield ◽  
Jullianne Diaz ◽  
Eyby Leon
Keyword(s):  
Medical Literature ◽  
Global Developmental Delay ◽  
Genetic Syndromes ◽  
Genomic Databases ◽  
Dystonic Posturing ◽  
Vertebral Anomalies ◽  
Clinically Significant ◽  
The University ◽  
7Q Duplication ◽  
Santa Cruz Genome

Pure distal duplications of 7q have rarely been described in the medical literature. The term pure refers to duplications that occur without an accompanying clinically significant deletion. Pure 7q duplications of various segments have previously been reported in the literature; however, pure distal 7q duplications have only been reported in 21 cases. Twenty of these earlier reports described patients who were identified via karyotype and 1 recently by microarray. Cases have also been reported in genomic databases such as DECIPHER and the University of California Santa Cruz genome browser. We have reviewed 7 additional cases with distal 7q duplications from these databases and compared them to 7 previously reported distal 7q duplication cases to uncover common features including global developmental delay, frontal bossing, macrocephaly, seizures, kyphoscoliosis/skeletal anomalies, and microretrognathia/palatal anomalies. In this case, we describe a 4-year-old boy with a 30.8-Mb pure duplication of 7q32.1q36.3. Newly reported features associated with this duplication include intermittent dystonic posturing, increased behavioral irritability, eosinophilic esophagitis, segmental vertebral anomalies, and segmental intermittent limb cyanosis. We highlight the importance of using publicly available databases to describe rare genetic syndromes and to better characterize the features of pure distal 7q duplications and further postulate that duplication of this region represents a recognizable macrocephalic neurodevelopmental syndrome.

Leiomyoma of the Male Urethra

2000 ◽  
Vol 124 (2) ◽  
pp. 302-303 ◽  
Author(s):  
Jose L. Mira ◽  
Guang Fan
Keyword(s):  
Urethral Stricture ◽  
English Language ◽  
Medical Literature ◽  
Medical Center ◽  
Male Urethra ◽  
Surgical Specimen ◽  
Cord Injury ◽  
History Of ◽  
The University ◽  
Epithelioid Leiomyoma

Abstract We describe the case of a 48-year-old quadriplegic black man with history of C4-C5 cervical spine and cord injury secondary to a fall, who presented to the University of Cincinnati Medical Center Urology Service with obstructive symptoms at urination. A bulbous urethral stricture was diagnosed and subsequently resected with primary urethral reanastomosis. On pathologic examination, the surgical specimen contained an epithelioid leiomyoma at the site of the urethral stricture. Although leiomyomas of the female urethra are relatively common, we identified only 2 previously reported cases of leiomyomas of the male urethra in the English-language medical literature. To the best of our knowledge, we describe the third case of leiomyoma of the male urethra, the first of the epithelioid type.

scholarly journals Intracranial EEG for seizure focus localization: evolving techniques, outcomes, complications, and utility of combining surface and depth electrodes

2019 ◽  
Vol 130 (4) ◽  
pp. 1180-1192 ◽  
Author(s):  
Yasunori Nagahama ◽  
Alan J. Schmitt ◽  
Daichi Nakagawa ◽  
Adam S. Vesole ◽  
Janina Kamm ◽  
...  
Keyword(s):  
Multivariate Analysis ◽  
Clinical Decision Making ◽  
Iterative Refinement ◽  
Fisher Exact Test ◽  
University Of Iowa ◽  
Seizure Focus ◽  
Depth Electrodes ◽  
Clinically Significant ◽  
The University ◽  
Over Time

OBJECTIVEIntracranial electroencephalography (iEEG) provides valuable information that guides clinical decision-making in patients undergoing epilepsy surgery, but it carries technical challenges and risks. The technical approaches used and reported rates of complications vary across institutions and evolve over time with increasing experience. In this report, the authors describe the strategy at the University of Iowa using both surface and depth electrodes and analyze outcomes and complications.METHODSThe authors performed a retrospective review and analysis of all patients who underwent craniotomy and electrode implantation from January 2006 through December 2015 at the University of Iowa Hospitals and Clinics. The basic demographic and clinical information was collected, including electrode coverage, monitoring results, outcomes, and complications. The correlations between clinically significant complications with various clinical variables were analyzed using multivariate analysis. The Fisher exact test was used to evaluate a change in the rate of complications over the study period.RESULTSNinety-one patients (mean age 29 ± 14 years, range 3–62 years), including 22 pediatric patients, underwent iEEG. Subdural surface (grid and/or strip) electrodes were utilized in all patients, and depth electrodes were also placed in 89 (97.8%) patients. The total number of electrode contacts placed per patient averaged 151 ± 58. The duration of invasive monitoring averaged 12.0 ± 5.1 days. In 84 (92.3%) patients, a seizure focus was localized by ictal onset (82 cases) or inferred based on interictal discharges (2 patients). Localization was achieved based on data obtained from surface electrodes alone (29 patients), depth electrodes alone (13 patients), or a combination of both surface and depth electrodes (42 patients). Seventy-two (79.1%) patients ultimately underwent resective surgery. Forty-seven (65.3%) and 18 (25.0%) patients achieved modified Engel class I and II outcomes, respectively. The mean follow-up duration was 3.9 ± 2.9 (range 0.1–10.5) years. Clinically significant complications occurred in 8 patients, including hematoma in 3 (3.3%) patients, infection/osteomyelitis in 3 (3.3%) patients, and edema/compression in 2 (2.2%) patients. One patient developed a permanent neurological deficit (1.1%), and there were no deaths. The hemorrhagic and edema/compression complications correlated significantly with the total number of electrode contacts (p = 0.01), but not with age, a history of prior cranial surgery, laterality, monitoring duration, and the number of each electrode type. The small number of infectious complications precluded multivariate analysis. The number of complications decreased from 5 of 36 cases (13.9%) to 3 of 55 cases (5.5%) during the first and last 5 years, respectively, but this change was not statistically significant (p = 0.26).CONCLUSIONSAn iEEG implantation strategy that makes use of both surface and depth electrodes is safe and effective at identifying seizure foci in patients with medically refractory epilepsy. With experience and iterative refinement of technical surgical details, the risk of complications has decreased over time.

Adherence and Efficacy of Olfactory Training as a Treatment for Persistent Olfactory Loss

2019 ◽  
Vol 34 (2) ◽  
pp. 238-248 ◽  
Author(s):  
Marco Aurélio Fornazieri ◽  
Ellen Cristine Duarte Garcia ◽  
Natália Medeiros Dias Lopes ◽  
Isabela Naomi Iha Miyazawa ◽  
Gislene dos Santos Silva ◽  
...  
Keyword(s):  
Treatment Success ◽  
Olfactory Function ◽  
University Of Pennsylvania ◽  
Adherence Rate ◽  
Olfactory Loss ◽  
Emerging Therapies ◽  
Spontaneous Improvement ◽  
Clinically Significant ◽  
The University ◽  
Olfactory Training

Background Among emerging therapies, olfactory training (OT) has been proposed as a potential treatment for persistent olfactory loss. This treatment has been suggested to improve olfactory function via sensorineural modulation from repeated odor exposure. However, due to the long treatment period that is required, many patients discontinue the treatment or do not follow the treatment regimen appropriately, potentially biasing estimates of treatment success. Moreover, spontaneous improvement is known to occur without any interventions. Objectives We evaluated both the adherence rates and the efficacy of OT in patients with persistent postinfectious, posttraumatic, or idiopathic olfactory loss. Methods Prospective observational study. Twenty-five patients with persistent olfactory loss underwent OT. Protocol adherence and olfactory function (scores on the University of Pennsylvania Smell Identification Test or UPSIT) were assessed 3 and 6 months after the initiation of treatment. A minimum improvement of 5 UPSIT points was considered clinically significant and adherence throughout the study. Results The adherence rate of the patients after 3 months was 88% and after 6 months was 56%. The corresponding percentages of clinical improvement were 23.5% and 25%. There was no relation of age, sex, time of olfactory loss, race, the degree of olfactory loss, etiology, education, and type of training to the adherence rate or treatment efficacy. Conclusions In this patient population, adherence to training remained high in the first 3 months of OT but declined moderately thereafter. The observed prevalence and degree of improvement were similar to that reported a number of studies, including some studies whose patients did not receive OT.

scholarly journals The Syndrome of Infantile-Onset Saccade Initiation Delay

2013 ◽  
Vol 40 (2) ◽  
pp. 235-240 ◽  
Author(s):  
Michael S. Salman ◽  
Kristin M. Ikeda
Keyword(s):  
Developmental Delay ◽  
Medical Literature ◽  
Joubert Syndrome ◽  
Global Developmental Delay ◽  
Optokinetic Response ◽  
Motor Delay ◽  
Ocular Pursuit ◽  
English Medical Literature ◽  
Vestibulo Ocular Reflex ◽  
Motor Apraxia

Introduction:Infantile-onset saccade initiation delay (ISID), also known as congenital ocular motor apraxia, is characterized by the inability to initiate volitional horizontal saccades. Other abnormalities including developmental delay and ataxia have been reported. The frequency of these abnormalities is unknown. We performed a detailed review of the medical literature to quantify features of ISID.Methods:We searched the English medical literature for articles related to ISID from 1952 to 2010. Whenever possible, patients were excluded if they had acquired SID, Joubert syndrome or neurodegenerative conditions. The minimum prevalence was calculated for each abnormality.Results:Sixty-six articles with information on 288 patients were included in the analysis. Head thrusts were reported in 84.7%. Blinks without head thrusts were used to initiate saccades in 41%. The fast phases of the optokinetic response and vestibulo-ocular reflex were impaired in 69.8% and 34.4% respectively. Smooth ocular pursuit was abnormal in 33%. Global developmental delay occurred in 41.3%, speech or language delay in 36.5%, cognitive delay in 17%, hypotonia in 35.8%, motor delay in 48.6%, and ataxia/clumsiness in 49.3% of patients. Neuroimaging was performed on 197 patients and was normal in 39.1%. Abnormalities involved the cerebellum (24.9%), cerebrum (15.7%), other infratentorial structures (11.7%), and corpus callosum (6.1%).Conclusions:Infantile-onset saccade initiation delay is frequently associated with deficits in reflexive saccades and less frequently with impaired smooth ocular pursuit. Developmental delay, hypotonia, and ataxia occur frequently in ISID, suggesting more global brain impairment and not just a saccadic disorder.

scholarly journals Validation of PI-RADS v2 Scores at Various Non-University Radiology Practices

2021 ◽  
Author(s):  
Evan Thomas Austin ◽  
◽  
Paul Kang ◽  
Chinedu Mmeje ◽  
Joseph Mashni ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Prostate Biopsy ◽  
Medical Center ◽  
Sufficient Evidence ◽  
Subsequent Increase ◽  
Significant Difference ◽  
Mri Guided ◽  
Clinically Significant ◽  
Sensitivity Specificity ◽  
The University

Purpose: The purpose of this study was to validate the second version of the Prostate Imaging Reporting and Data System (PI-RADSv2) scores in predicting positive in-bore MRI-guided targeted prostate biopsy results across different non-university related institutions. The study focuses on PI-RADS v2 scoring because during the study period, PI-RADS v2.1 had not been released. Materials and Methods: This was a retrospective review of 147 patients who underwent multiparametric magnetic resonance imaging (mpMRI) of the pelvis followed by in-bore MRI-guided targeted prostate biopsy from December 2014 to May 2018. All lesions on mpMRI were rated according to PI-RADS v2 criteria. PI-RADS v2 scores were then compared to MR-guided biopsy results and pre-biopsy PSA values. Results: Prostate Cancer (PCa) was detected in 54% (80/147) of patients, with more prostate cancer being detected with each subsequent increase in PI-RADS scores. Specifically, biopsy results in patients with PI-RADS 3, 4, and 5 lesions resulted in PCa in 25.6% (10/39), 58.1% (33/55), and 86.0% (37/43) respectively. Clinically significant PCa (Gleason score ≥7) was detected in 17.9% (7/39), 52.7% (29/55), and 72% (31/43) of cases for PI-RADS 3, 4, and 5 lesions respectively. When the PI-RADS scoring and biopsy results were compared across different institutions, there was no difference in the PI-RADS scoring of lesions or in the positive biopsy rates of the lesions. The sensitivity, specificity, PPV, and NPV for PI-RADS 3-4 lesions were also not statistically different across the institutions for detecting Gleason 7 or greater lesions. Conclusion: Our results agree with prior studies that higher PI-RADS scores are associated with the presence of clinically significant PCa and suggest prostate lesions with PI-RADS scores 3-5 have sufficient evidence to warrant targeted biopsy. The comparison of PI-RADS score across different types of non-university practices revealed no difference in scoring and biopsy outcome, suggesting that PI-RADS v2 can be easily applied outside of the university medical center setting. Clinical Relevance: PI-RADS v2 can be applied homogeneously in the non-university setting without significant difference in outcome.

QOLP-15. FEASIBILITY OF AN ELECTRONIC PATIENT REPORTED STEROID TOXICITY MONITORING PROGRAM IN PATIENTS WITH MALIGNANT GLIOMAS

2021 ◽  
Vol 23 (Supplement_6) ◽  
pp. vi186-vi186
Author(s):  
Jared Macher ◽  
Andrea Wasilewski
Keyword(s):  
Malignant Gliomas ◽  
Monitoring Program ◽  
Completion Rate ◽  
Toxicity Monitoring ◽  
Steroid Toxicity ◽  
Patient Reported ◽  
Clinically Significant ◽  
Toxicity Scores ◽  
The University ◽  
Electronic Questionnaires

Abstract OBJECTIVE To determine the feasibility of a longitudinal, electronic, patient-reported survey of steroid toxicity in patients with malignant glioma (MG). BACKGROUND Corticosteroids are frequently used for management of cerebral edema in MG, with side effects resulting from prolonged use or high dosage. Corticosteroid use is common and may negatively impact quality of life (QOL) and survival in MG. DESIGN/METHODS We prospectively enrolled patients with MG receiving neuro-oncologic care at the University of Rochester with or without their caregivers on an IRB-approved study. Subjects received 12 weekly electronic questionnaires through a secure health portal focused on symptoms of corticosteroid toxicities, dosing and functional status. Weekly toxicity scores were calculated based on the number of reported toxicities (0-17). Completed questionnaires were reviewed by a care team member to inform clinical management. Corticosteroid dosing adjustments were documented in the medical record. Feasibility was defined as an overall questionnaire completion rate of 70%. RESULTS 11 patient/caregiver pairs were enrolled (11 patients, including 9 with caregivers). Median patient age was 58. Patient tumors were glioblastoma (82%), anaplastic astrocytoma (9%) and anaplastic oligodendroglioma (9%). Phase of treatment was concurrent (55%), adjuvant (36%) and recurrence (9%). Median dexamethasone does at study start and conclusion were 4mg/day and 3mg/day. Median weekly toxicity score was 5/17 (range: 0-14). The most common toxicities were muscle weakness, sleep disturbance and weight gain and were reported by 82% of participants. Overall questionnaire completion rate was 81%. Ten percent of questionnaires resulted in clinically significant symptoms requiring follow-up from a provider. CONCLUSION Patients with MG experience frequent corticosteroid toxicities. Electronic corticosteroid toxicity monitoring is feasible in patients with MG and may lead to changes in management. Future studies are needed to assess utility of this tool and impact on QOL and survival.

scholarly journals Array CGH Analysis and Developmental Delay: A Diagnostic Tool for Neurologists

2013 ◽  
Vol 40 (6) ◽  
pp. 777-782 ◽  
Author(s):  
F. Cameron ◽  
J. Xu ◽  
J. Jung ◽  
C. Prasad
Keyword(s):  
Developmental Delay ◽  
Uniparental Disomy ◽  
Chromosome Analysis ◽  
Deletion Syndrome ◽  
Global Developmental Delay ◽  
Unknown Etiology ◽  
Comparative Genomic ◽  
Illustrative Case ◽  
Genetic Syndromes ◽  
Copy Number Changes

Developmental delay occurs in 1–3% of the population, with unknown etiology in approximately 50% of cases. Initial genetic work up for developmental delay previously included chromosome analysis and subtelomeric FISH (fluorescent in situ hybridization). Array Comparative Genomic Hybridization (aCGH) has emerged as a tool to detect genetic copy number changes and uniparental disomy and is the most sensitive test in providing etiological diagnosis in developmental delay. aCGH allows for the provision of prognosis and recurrence risks, improves access to resources, helps limit further investigations and may alter medical management in many cases. aCGH has led to the delineation of novel genetic syndromes associated with developmental delay. An illustrative case of a 31-year-old man with long standing global developmental delay and recently diagnosed 4q21 deletion syndrome with a deletion of 20.8 Mb genomic interval is provided. aCGH is now recommended as a first line test in children and adults with undiagnosed developmental delay and congenital anomalies.

Homer Wheelon, M.D., physiologist, artist, and poet: origins of the tailpieces in journals of the American Physiological Society

2006 ◽  
Vol 291 (6) ◽  
pp. R1567-R1578
Author(s):  
Lawrence P. Schramm ◽  
Diana C. Schramm ◽  
F. Wilson Jackson
Keyword(s):  
Visual Art ◽  
Medical Literature ◽  
Bachelor's Degree ◽  
Scientific Career ◽  
American Physiological Society ◽  
Faculty Position ◽  
Hospital Administrator ◽  
Northwestern University ◽  
Applied Physiology ◽  
The University

Since 1953, illustrations have been inserted as “tailpieces” at the ends of articles in The American Journal of Physiology and The Journal of Applied Physiology. The drawings were made by Homer Wheelon, a member of the American Physiological Society from 1919 until his death in 1960. Forty-five years after his death, Wheelon is unknown, but he contributed 32 publications to the medical literature and trained J. Earl Thomas, an important 20th century gastrointestinal physiologist. Wheelon was born into poverty in 1883 to itinerant Methodist preachers, circumstances that guided his education and career choices. Throughout his life, Wheelon exhibited a fondness and talent for art and photography and an unusual breadth of intellectual interests and knowledge. Wheelon received a bachelor’s degree from the University of Washington, then studied at the University of Oregon, Northwestern University, and St. Louis University. Earning his M.D. from St. Louis University and assuming a faculty position there, Wheelon and his graduate student, Thomas, conducted widely recognized gastrointestinal research. Returning to Seattle in 1921, Wheelon became a highly respected physician and hospital administrator, but he also found time to indulge his interest in visual art and poetry. In 1933, inspired by observing a rabbit being used in a pregnancy test, Wheelon began to write and illustrate an epic, 322-page poem, Rabbit No. 202, illustrations from which became the journals’ tailpieces. The present study traces Wheelon’s personal life and scientific career in an attempt to understand this complex man and the origins of his unusual poem and its drawings.

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