Clinicopathological correlates with theoretical grades

2021 ◽  
pp. 253-260
Author(s):  
Robert Bains ◽  
Simon Kay
Keyword(s):  
Nerve Injury ◽  
Severe Pain ◽  
Complete Loss ◽  
Classification Systems ◽  
Full Recovery ◽  
Loss Of Function ◽  
Spontaneous Improvement

Nerve injury may present with temporary and short-lived loss of function progressing to full recovery or with complete loss of function, severe pain, and no prospect of spontaneous improvement. Many cases lie between these two extremes and the classification systems described in this chapter will aid identification and understanding of an individual injury with the intention to predict outcome and so guide management.

Chronic Ischemic Monomelic Neuropathy after Arteriovenous Fistula Creation: A Unique Presentation of Vascular Steal

2020 ◽  
Vol 3 (2) ◽  
pp. 147-150
Author(s):  
Kaczynski RE ◽  
Asaad Y ◽  
Valentin-Capeles N ◽  
Battista J
Keyword(s):  
Arteriovenous Fistula ◽  
Complete Loss ◽  
Dialysis Access ◽  
Loss Of Function ◽  
Access Site ◽  
Surgical Ligation ◽  
Arteriovenous Access ◽  
Vascular Steal ◽  
Steal Syndrome

We discuss a case of a 58 year old male who presented for left upper extremity steal syndrome including ischemic monomelic neuropathy (IMN) 1.5 months after arteriovenous fistula creation. He presented after three surgical attempts to salvage his fistula with rest pain, complete loss of function with contracture of the 4th and 5th digits, and loss of sensation in the ulnar distribution for more than three weeks. At our institution, he underwent surgical ligation of the distal fistula and creation of a new fistula proximally, resulting in complete resolution of his vascular steal symptoms almost immediately despite the chronicity prior to surgical presentation. Our patient provides a unique perspective regarding dialysis access salvage versus patient quality of life. The patients’ functional status and pain levels should take precedence over salvage of an arteriovenous access site, and early ligation of the access should be completed prior to chronic IMN development. However, if a patient presents late along the IMN course, we recommend strong consideration of access ligation in order to attempt to regain the full neurovascular function of the extremity as we experienced in our patient.

scholarly journals Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Joseph J. Rossi ◽  
Jill A. Rosenfeld ◽  
Katie M. Chan ◽  
Haley Streff ◽  
Victoria Nankivell ◽  
...  
Keyword(s):  
Neurodevelopmental Disorders ◽  
Protein Function ◽  
Transcriptional Activity ◽  
Neurodevelopmental Disorder ◽  
Complete Loss ◽  
Loss Of Function ◽  
Targeted Disruption ◽  
Clinical Exome Sequencing ◽  
Partner Protein ◽  
The Brain

AbstractAberrations in the excitatory/inhibitory balance within the brain have been associated with both intellectual disability (ID) and schizophrenia (SZ). The bHLH-PAS transcription factors NPAS3 and NPAS4 have been implicated in controlling the excitatory/inhibitory balance, and targeted disruption of either gene in mice results in a phenotype resembling ID and SZ. However, there are few human variants in NPAS3 and none in NPAS4 that have been associated with schizophrenia or neurodevelopmental disorders. From a clinical exome sequencing database we identified three NPAS3 variants and four NPAS4 variants that could potentially disrupt protein function in individuals with either developmental delay or ID. The transcriptional activity of the variants when partnered with either ARNT or ARNT2 was assessed by reporter gene activity and it was found that variants which truncated the NPAS3/4 protein resulted in a complete loss of transcriptional activity. The ability of loss-of-function variants to heterodimerise with neuronally enriched partner protein ARNT2 was then determined by co-immunoprecipitation experiments. It was determined that the mechanism for the observed loss of function was the inability of the truncated NPAS3/4 protein to heterodimerise with ARNT2. This further establishes NPAS3 and NPAS4 as candidate neurodevelopmental disorder genes.

Development of a Tibial Slider to Evaluate and Validate a Finite Element Model for Friction in Total Knee Implants

2000 ◽  
Author(s):  
Michael D. Nowak ◽  
Kenneth Shaw ◽  
Courtland Lewis
Keyword(s):  
United States ◽  
Finite Element ◽  
Knee Replacement ◽  
Severe Pain ◽  
Element Model ◽  
The United States ◽  
Loss Of Function ◽  
Articular Surfaces ◽  
Joint Disorder ◽  
Total Knee

Abstract More than 200,000 people in the United States annually undergo knee replacement as a means of diminishing pain and stiffness and restoring mobility, and the number is expected to increase with further advancements in joint replacement procedures [Duke, 1999]. Total knee replacement is performed on people with severe degenerative joint disorder such as osteoarthritis in which the articular surfaces of the knee deteriorate, leading to severe pain, limitation or loss of function and/or deformity of the joint.

scholarly journals Bilateral angiomyolipoma of the kidney in patient with tuberous sclerosis

2005 ◽  
Vol 133 (9-10) ◽  
pp. 433-437
Author(s):  
Radoje Colovic ◽  
Natasa Colovic ◽  
Nikica Grubor ◽  
Vladimir Radak ◽  
Marijan Micev ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Complete Loss ◽  
Hla Typing ◽  
Uneventful Recovery ◽  
Loss Of Function ◽  
Kidney Tumors ◽  
Benign Nature ◽  
The Right ◽  
Slow Growing

Angiomyolipomas are relatively frequent tumors of the kidney. It is believed that about 10 million people worldwide have such a tumor. About 1/10 of these 10 million are patients who suffer from tuberous sclerosis. The tumors are frequently bilateral, slow growing, and usually a symptomatic, as well as being rare in children. Due to the benign nature of angiomyolipomas, surgical treatment and embolisation of the tumors are generally not recommended, unless renal function is endangered, the symptoms are severe, or the kidney in question becomes completely dysfunctional. This is particularly the case in patients with tuberous sclerosis in whom these tumors are either already bilateral or may become so. We present a 24-year-old woman with tuberous sclerosis in whom bilateral kidney tumors were diagnosed 7 years earlier and in whom we carried out a left nephrectomy of a 5300 gram angiomyolipoma, which caused pain and complete loss of function. Although timorous, the right kidney was functional, so it was left untouched. After an uneventful recovery, a close follow-up was recommended, as well as HLA typing, as it is highly probable that the right kidney will gradually become inadequate or completely dysfunctional, so that haemodialysis and/or kidney transplantation along with nephrectomy will become necessary.

scholarly journals SMARCB1/INI1-deficient tumors of adulthood

F1000Research ◽  
2020 ◽  
Vol 9 ◽  
pp. 662
Author(s):  
Nathaniel A. Parker ◽  
Ammar Al-Obaidi ◽  
Jeremy M. Deutsch
Keyword(s):  
Progressive Disease ◽  
Therapeutic Strategies ◽  
Complete Loss ◽  
Rhabdoid Tumor ◽  
Diverse Group ◽  
Loss Of Function ◽  
Genetic Aberrations ◽  
Mosaic Expression ◽  
Aggressive Tumors ◽  
Rhabdoid Tumors

The SMARCB1/INI1 gene was first discovered in the mid-1990s, and since then it has been revealed that loss of function mutations in this gene result in aggressive rhabdoid tumors. Recently, the term “rhabdoid tumor” has become synonymous with decreased SMARCB1/INI1 expression. When genetic aberrations in the SMARCB1/INI1 gene occur, the result can cause complete loss of expression, decreased expression, and mosaic expression. Although SMARCB1/INI1-deficient tumors are predominantly sarcomas, this is a diverse group of tumors with mixed phenotypes, which can often make the diagnosis challenging. Prognosis for these aggressive tumors is often poor. Moreover, refractory and relapsing progressive disease is common. As a result, accurate and timely diagnosis is imperative. Despite the SMARCB1/INI1 gene itself and its implications in tumorigenesis being discovered over two decades ago, there is a paucity of rhabdoid tumor cases reported in the literature that detail SMARCB1/INI1 expression. Much work remains if we hope to provide additional therapeutic strategies for patients with aggressive SMARCB1/INI1-deficient tumors.

scholarly journals Putty kidney

JMS SKIMS ◽  
2019 ◽  
Vol 22 (2) ◽  
Author(s):  
Arshed Hussain Parry ◽  
Irfan Robbani ◽  
Tariq Ahmad Gojwari
Keyword(s):  
Renal Involvement ◽  
Complete Loss ◽  
Stricture Formation ◽  
Loss Of Function

Renal involvement by tuberculosis leads to fibrosis and multi focal stricturing of calyces with formation of hydrocalyces. The obstructed calyceal system accumulates caseous pus within it which eventually calcifies. This obstructed and calcified kidney is non-functional and is referred to ‘putty kidney’ and this cascade of fibrosis, stricture formation, calcification with complete loss of function is called as autonephrectomy (1,2).

scholarly journals Protection against CNS Ischemia by Temporary Interruption of Function-Related Processes of Neurons

1995 ◽  
Vol 15 (3) ◽  
pp. 433-439 ◽  
Author(s):  
Adelbert Ames ◽  
Kenneth I. Maynard ◽  
Stuart Kaplan
Keyword(s):  
Energy Consumption ◽  
Continuous Monitoring ◽  
Glucose Utilization ◽  
Complete Loss ◽  
Full Recovery ◽  
Energy Requirements ◽  
Ischemic Damage ◽  
Fold Reduction ◽  
Pharmacologic Agents ◽  
Reducing Energy

Previous studies have shown that most of the energy consumption of CNS tissue is used for processes that subserve signaling functions of the cells. Since these function-related processes are probably not essential to cell viability, blocking them reversibly with a combination of pharmacologic agents should protect cells from a reduction in energy metabolism. Preliminary experiments to test this hypothesis were performed on isolated rabbit retinas. They were maintained in a newly devised chamber that permitted continuous monitoring of electrophysiological function for ≥8 h. Ischemia was simulated by a 6-fold reduction in both O2 and glucose. This caused a rapid ( t1/2 75 s) and complete loss of the light-evoked response in the optic nerve. Untreated retinas showed full recovery after ½ h of deprivation, but only 50% recovery after 1 h and little or no recovery after 2 or 3 h. Retinas exposed during 3 h of deprivation to a combination of six agents that abolished electrophysiologic function and reduced glucose utilization [tetrodotoxin (TTX), 2-amino-4-phosphonobutyric acid (APB), 2-amino-5-phosphonovaleric acid (APV), amiloride, Mg2+, and Li+] showed full recovery. We conclude that reducing energy requirements by blocking functional processes can prevent ischemic damage.

Genetic analysis of laminin A reveals diverse functions during morphogenesis in Drosophila

Development ◽  
1993 ◽  
Vol 118 (2) ◽  
pp. 325-337 ◽  
Author(s):  
C. Henchcliffe ◽  
L. Garcia-Alonso ◽  
J. Tang ◽  
C.S. Goodman
Keyword(s):  
Cell Fate ◽  
Genetic Characterization ◽  
Complete Loss ◽  
Loss Of Function ◽  
Partial Loss ◽  
Multidomain Structure ◽  
A Subunit ◽  
Wing Structure

In order to dissect the functions of laminin A in vivo, we have undertaken a molecular and genetic characterization of the laminin A subunit (lamA) gene in Drosophila. Sequence analysis predicts a multidomain structure similar to mammalian homologs. We generated a series of complete and partial loss-of-function mutant alleles of the lamA gene; complete loss-of-function mutations lead to late embryonic lethality. Certain combinations of partial loss-of-function lamA alleles give rise to escaper adults, which have rough eyes associated with changes in cell fate and pattern, misshapen legs and defects in wing structure. These phenotypes suggest that laminin A has diverse functions during morphogenesis in Drosophila.

scholarly journals Antral Bony Wall Erosion, Trigeminal Nerve Injury, and Enophthalmos after Root Canal Surgery

2016 ◽  
Vol 7 (2) ◽  
pp. ar.2016.7.0161 ◽  
Author(s):  
Tiago Costa ◽  
Eduardo Ferreira ◽  
Luis Antunes ◽  
Paulo Borges Dinis
Keyword(s):  
Maxillary Sinus ◽  
Nerve Injury ◽  
Sodium Hypochlorite ◽  
Root Canal ◽  
Bone Erosion ◽  
Infraorbital Nerve ◽  
Loss Of Function ◽  
Endoscopic Endonasal ◽  
Dental Surgery ◽  
Root Canal Irrigation

Introduction The frequently used irrigant in dental surgery, sodium hypochlorite, is occasionally the cause of minor, usually circumscribed, adverse effects. Severe, extensive complications, with lasting sequelae, however, also can occur, as in the case we report herein. Case Report A 55-year-old woman underwent an endodontic procedure on a maxillary molar, whose roots, unknown to the surgeon, were protruding into the maxillary sinus. After sodium hypochlorite root canal irrigation, the patient immediately developed intense facial pain, facial edema, and periorbital cellulitis. An emergency department evaluation diagnosed an intense inflammatory disease of the maxillary sinus, with significant destruction of its bony walls, accompanied by midface paraesthesia due to infraorbital nerve injury. In the following weeks, the patient slowly developed enophthalmos due to bone erosion of the orbit floor. Treatment, besides prolonged oral steroids, required the endoscopic endonasal opening of the maxillary sinus for profuse irrigation. Two years later, the patient maintained a complete loss of function of the maxillary sinus, anesthesia-paraesthesia of the midface, and inferior dystonia of the eye with an enophthalmos. Conclusion Dentists, maxillofacial surgeons, and otorhinolaryngologists should all be aware of the whole spectrum of complications of even the simplest dental work. Sodium hypochlorite irrigations should be used cautiously in root canal surgery, with the full awareness of its potential for causing soft-tissue damage.

scholarly journals Sialylation of Asparagine 612 Inhibits Aconitase Activity during Mouse Sperm Capacitation; a Possible Mechanism for the Switch from Oxidative Phosphorylation to Glycolysis

2020 ◽  
Vol 19 (11) ◽  
pp. 1860-1875
Author(s):  
Ana Izabel Silva Balbin Villaverde ◽  
Rachel A. Ogle ◽  
Peter Lewis ◽  
Vincenzo Carbone ◽  
Tony Velkov ◽  
...  
Keyword(s):  
Oxidative Phosphorylation ◽  
Serine Proteases ◽  
Alpha Helix ◽  
Complete Loss ◽  
Loss Of Function ◽  
Sperm Capacitation ◽  
Aconitate Hydratase ◽  
Mouse Sperm ◽  
Cycle Enzyme ◽  
Aconitase Activity

After ejaculation, mammalian spermatozoa must undergo a process known as capacitation in order to successfully fertilize the oocyte. Several post-translational modifications occur during capacitation, including sialylation, which despite being limited to a few proteins, seems to be essential for proper sperm-oocyte interaction. Regardless of its importance, to date, no single study has ever identified nor quantified which glycoproteins bearing terminal sialic acid (Sia) are altered during capacitation. Here we characterize sialylation during mouse sperm capacitation. Using tandem MS coupled with liquid chromatography (LC–MS/MS), we found 142 nonreductant peptides, with 9 of them showing potential modifications on their sialylated oligosaccharides during capacitation. As such, N-linked sialoglycopeptides from C4b-binding protein, endothelial lipase (EL), serine proteases 39 and 52, testis-expressed protein 101 and zonadhesin were reduced following capacitation. In contrast, mitochondrial aconitate hydratase (aconitase; ACO2), a TCA cycle enzyme, was the only protein to show an increase in Sia content during capacitation. Interestingly, although the loss of Sia within EL (N62) was accompanied by a reduction in its phospholipase A1 activity, a decrease in the activity of ACO2 (i.e. stereospecific isomerization of citrate to isocitrate) occurred when sialylation increased (N612). The latter was confirmed by N612D recombinant protein tagged with both His and GFP. The replacement of Sia for the negatively charged Aspartic acid in the N612D mutant caused complete loss of aconitase activity compared with the WT. Computer modeling show that N612 sits atop the catalytic site of ACO2. The introduction of Sia causes a large conformational change in the alpha helix, essentially, distorting the active site, leading to complete loss of function. These findings suggest that the switch from oxidative phosphorylation, over to glycolysis that occurs during capacitation may come about through sialylation of ACO2.

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