scholarly journals Alobar Holoprosencephaly With Cebocephaly

2016 ◽  
Vol 33 (1) ◽  
pp. 39-42 ◽  
Author(s):  
Jodi Callahan ◽  
Casey Harmon ◽  
John Aleshire ◽  
Bill Hickey ◽  
Brandy Jones

Holoprosencephaly (HPE) is a complex brain malformation caused by incomplete fusion of cleavage of the cerebral hemispheres and deep brain structures affecting 6 to 12:10,000 live-born infants. There are three categories of HPE ranging in severity, with alobar holoprosencephaly being the most severe, followed by semilobar holoprosencephaly, and lobar holoprosencephaly being the mildest form. Facial anomalies as well as chromosome anomalies are often associated with HPE. This case study describes a transabdominal sonographic diagnosis of alobar HPE with cebocephaly originally found at 27 weeks 3 days on a patient with no prenatal care.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 2026-2026 ◽  
Author(s):  
Nancy D. Doolittle ◽  
Lauren Abrey ◽  
Tamara Shenkier ◽  
Tali Siegal ◽  
Jacoline Bromberg ◽  
...  

Abstract Background: Isolated brain parenchyma relapse as initial site of relapse is a rare complication of NHL and carries a poor prognosis. Few large series focus on treatment characteristics and outcomes of isolated brain parenchyma relapse of NHL. Methods: The IPCG conducted a retrospective review of patient and treatment characteristics and outcomes of this complication. Following initial diagnosis and treatment of NHL (1980–2004), cases with brain parenchyma relapse as initial relapse site, with no evidence of lymphoma elsewhere in the body at the time of brain relapse, were eligible. Cases with brain, spine or leptomeningeal involvement at NHL diagnosis were not eligible. Results: 113 cases were assembled from 13 investigators in 8 countries. Preliminary data summaries are: 94 (83%) cases had diffuse large B-cell NHL, 5 (4%) follicular lymphoma, 3 (3%) Burkitt’s lymphoma, other NHL subtypes (11) . Median age at NHL diagnosis was 61yrs (16–85 yrs). 55% were male. Median ECOG at NHL diagnosis was 1. Median time from NHL diagnosis to isolated brain relapse was 1.8 yrs (3 months–15.9 yrs). 76 (67%) relapsed in brain less than 3 yrs after NHL diagnosis. Symptoms at brain relapse included mental status changes in 37%, gait/balance disturbance (27%), motor/sensory symptoms (23%). Median ECOG at brain relapse was 2. Parenchyma relapse was documented by brain imaging plus biopsy in 54 (48%), or imaging without biopsy in 58 (52%); not reported (1). 53 (48%) cases had one brain lesion; 56 (50%) had two or more lesions; not reported (4). Site of relapse was cerebral hemispheres in 53 (48%) cases, deep brain structures (brain stem/cerebellum) in 30 (27%), cerebral hemispheres and deep brain structures in 23 (21%); not reported (7). At brain relapse, CSF was positive in 11 (10%) cases, negative in 56 (50%); not reported (46[40%]). Treatment for brain relapse was chemotherapy alone in 52 (46%) cases, WBRT alone in 34 (30%), chemotherapy followed by RT in 26 (23%), and brain surgery alone (1). 78 (69%) cases are deceased. Median survival from brain parenchyma relapse to death was 1.6 yrs (95% CI: 11 months–2.6 yrs). Effect of treatment type at brain relapse on survival, will be reported. Brain lymphoma was the cause of death in 49 (63%) cases; CNS toxicity was the cause in 6 (8%) cases. Conclusion: Though a rare relapse site, prospective studies are needed to improve understanding and outcomes of isolated brain parenchyma relapse of NHL.


2019 ◽  
Vol 2 ◽  
pp. 2
Author(s):  
Allison Forrest ◽  
Numbereye Numbere ◽  
Jerome Jean-Gilles ◽  
Thomas Frye ◽  
Vikram Dogra

Testicular cancer accounts for 1% of all male cancers yet is the most common cancer affecting men aged 15–44 years. Most testicular cancers are seminomas or non-seminomatous germ cell tumors. Rarely, multiple testicular cancers may occur simultaneously, most often of the same histological type. However, synchronous tumors of different histological types may occur, although rarely. In this case study, we present the sonographic features with histopathologic correlation in a case of unilateral synchronous testicular tumors of discordant histology.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Estefanía Hernandez-Martin ◽  
Enrique Arguelles ◽  
Yifei Zheng ◽  
Ruta Deshpande ◽  
Terence D. Sanger

AbstractHigh-frequency peripheral nerve stimulation has emerged as a noninvasive alternative to thalamic deep brain stimulation for some patients with essential tremor. It is not known whether such techniques might be effective for movement disorders in children, nor is the mechanism and transmission of the peripheral stimuli to central brain structures understood. This study was designed to investigate the fidelity of transmission from peripheral nerves to thalamic nuclei in children with dystonia undergoing deep brain stimulation surgery. The ventralis intermediate (VIM) thalamus nuclei showed a robust evoked response to peripheral high-frequency burst stimulation, with a greatest response magnitude to intra-burst frequencies between 50 and 100 Hz, and reliable but smaller responses up to 170 Hz. The earliest response occurred at 12–15 ms following stimulation onset, suggesting rapid high-fidelity transmission between peripheral nerve and thalamic nuclei. A high-bandwidth, low-latency transmission path from peripheral nerve to VIM thalamus is consistent with the importance of rapid and accurate sensory information for the control of coordination and movement via the cerebello-thalamo-cortical pathway. Our results suggest the possibility of non-invasive modulation of thalamic activity in children with dystonia, and therefore the possibility that a subset of children could have beneficial clinical response without the need for invasive deep brain stimulation.


1982 ◽  
Vol 307 (3) ◽  
pp. 221-235 ◽  
Author(s):  
E. Duek ◽  
L. Kowalski ◽  
M. Rajagopalan ◽  
John M. Alexander ◽  
D. Logan ◽  
...  

2021 ◽  
pp. 875647932110649
Author(s):  
Kelly Pham

The prevalence of segmental testicular infarction is extremely uncommon and very few cases have been reported in literature. Clinical and sonographic presentation of this condition can mimic testicular neoplasms or testicular torsion. Therefore, accurate diagnosis of segmental testicular infarction is imperative in the treatment process. This case study presents the sonographic diagnosis of testicular infarction in a 49-year-old man who reported mild testicular tenderness. A conservative treatment approach was used, saving the patient unnecessary surgical intervention.


Author(s):  
Sebastiano Lucerna ◽  
Francesco M. Salpietro ◽  
Concetta Alafaci ◽  
Francesco Tomasello
Keyword(s):  

2019 ◽  
Vol 122 (3) ◽  
pp. 975-983 ◽  
Author(s):  
Yonatan Katz ◽  
Michael Sokoletsky ◽  
Ilan Lampl

Deep brain nuclei, such as the amygdala, nucleus basalis, and locus coeruleus, play a crucial role in cognition and behavior. Nonetheless, acutely recording electrical activity from these structures in head-fixed awake rodents has been very challenging due to the fact that head-fixed preparations are not designed for stereotactic accuracy. We overcome this issue by designing the DeepTarget, a system for stereotactic head fixation and recording, which allows for accurately directing recording electrodes or other probes into any desired location in the brain. We then validated it by performing intracellular recordings from optogenetically tagged amygdalar neurons followed by histological reconstruction, which revealed that it is accurate and precise to within ~100 μm. Moreover, in another group of mice we were able to target both the mammillothalamic tract and subthalamic nucleus. This approach can be adapted to any type of extracellular electrode, fiber optic, or other probe in cases where high accuracy is needed in awake, head-fixed rodents. NEW & NOTEWORTHY Accurate targeting of recording electrodes in awake head-restrained rodents is currently beyond our reach. We developed a device for stereotactic implantation of a custom head bar and a recording system that together allow the accurate and precise targeting of any brain structure, including deep and small nuclei. We demonstrated this by performing histology and intracellular recordings in the amygdala of awake mice. The system enables the targeting of any probe to any location in the awake brain.


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