scholarly journals Versatile Grafts and Flaps in Reconstruction of Oral and Maxillofacial Postsurgical Defects

2011 ◽  
Vol 2 (1) ◽  
pp. 17-25 ◽  
Author(s):  
Madhumati Singh ◽  
Anjan Shah ◽  
Shouvik Chowdhury
Keyword(s):  
Squamous Cell Carcinoma ◽  
Soft Tissue ◽  
Functional Ability ◽  
Primary Closure ◽  
Tissue Loss ◽  
Local Flaps ◽  
Loss Of Function ◽  
Neck Tumors ◽  
Ablative Surgery ◽  
And Function

ABSTRACT Ablative surgery for head and neck tumors is associated with significant disfigurement and loss of function. The main aim of the surgeon is to provide functional ability and esthetics of the patient. Type and extent of tissue loss from surgery relates to loss of soft tissue and bone. Reconstructions of jaw and mouth defects represent a challenge to the surgeon and are most commonly indicated in patients with oral squamous cell carcinoma.4 Primary closure and the restoration of form, cosmetics and function are the goals of reconstructive surgery. Various techniques have been practiced, including grafts, local flaps, regional flaps and free vascularized flaps even with diverse options, each one has its inherent advantages and shortcomings. This article highlights our experiences with various reconstructive options, best possible reconstructive method to be followed to minimize morbidity of the patient.

AIDS Dementia Complex: The Perception of Loss of Functional Ability

2002 ◽  
Vol 65 (11) ◽  
pp. 509-514
Author(s):  
Kate Gregory ◽  
Deanna Gibbs
Keyword(s):  
Health Care ◽  
Health Care Workers ◽  
Functional Ability ◽  
Aids Dementia Complex ◽  
Limited Information ◽  
Loss Of Function ◽  
Structured Interviews ◽  
Aids Dementia ◽  
Care Workers ◽  
And Function

AIDS Dementia Complex (ADC) is a subcortical dementia often associated with HIV disease. Despite undergoing numerous assessments of cognition and function to determine their need for personal care assistance, there is limited information on how individuals with ADC view their functional and cognitive impairments and the subsequent effect on their lifestyle. This study investigated issues of concern to clients with ADC in order to provide a greater understanding of the psychological effect of the loss of functional ability. A qualitative design was used to explore individuals' experience of ADC and clarify their insight and perception regarding the loss of function. The participants were selected by the use of purposeful sampling techniques. Information was obtained through semi-structured interviews and analysed using an analytic induction method. Five main themes were identified as being important in relation to the perception of functional ability. Discrepancies emerged between the insights of individuals with ADC regarding their level of function and their need for assistance and support with activities of daily living, compared with those of the health care workers involved in their care. Health care workers need to have an awareness of the insight that individuals with ADC may have into their functional ability when addressing issues of supported accommodation and level of assistance required.

Reconstruction of the Lower Leg With Percutaneous Aponeurotomy and Lipofilling: A Case Report

2019 ◽  
Vol 18 (3) ◽  
pp. 336-338
Author(s):  
Yooseok Ha ◽  
Hee Sang Yang ◽  
Seung Han Song ◽  
Sang-Ha Oh
Keyword(s):  
Soft Tissue ◽  
Lower Leg ◽  
Tissue Loss ◽  
Local Flaps ◽  
Soft Tissue Defects ◽  
Established Method ◽  
Flap Transfer ◽  
Free Flap Transfer ◽  
Soft Tissue Loss ◽  
Tissue Defects

Soft tissue loss in the lower leg presents a challenge for reconstructive surgeons. When a defect is large, free flap transfer provides a well-established method, but local flaps are more convenient for small to moderately sized soft tissue defects. When a defect is very small, even local flaps are too invasive, leave additional scar, and cause bulky flaps. We present our case aiming to underline the usefulness of percutaneous aponeurotomy and lipofilling in a small lower leg defect with several advantages.

scholarly journals Revisiting the value of the ‘bandoneon’ flap for lower lip reconstruction: a report of two cases and outcome

2020 ◽  
Vol 2020 (5) ◽  
Author(s):  
John M Le ◽  
Sherry S Collawn
Keyword(s):  
Squamous Cell Carcinoma ◽  
Soft Tissue ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Sensory Function ◽  
Local Flaps ◽  
Lower Lip ◽  
Lip Reconstruction ◽  
Common Skin

Abstract Mild- to moderate-sized lip defects that affect one- to two-thirds of the total lip length often require that utilization of local soft tissue rearrangement in order to re-establish lip anatomy, function and esthetics. The use of local flaps in lip reconstruction often follows oncologic resection of common skin malignancies including basal cell carcinoma and squamous cell carcinoma. When considering the types of flaps to use for lip defects of one- to two-third total length, a variety of flaps designs have been described, each with its benefits in drawbacks. In this article, we reintroduce the use and value of the bilateral mucomyocutaneous ‘bandoneon’ flaps for lower lip reconstruction in two of our patients. When compared with other flap designs, it can be used as a single-stage procedure with a very good esthetic outcome, minimal to no microstomia and preservation of lip competence and sensory function.

Reconstruction of Canthal Defects

2011 ◽  
Author(s):  
C. Robert Bernardino
Keyword(s):  
Soft Tissue ◽  
Tissue Loss ◽  
Fixed Tissue ◽  
Bony Tissue ◽  
Synthetic Materials ◽  
Proper Diagnosis ◽  
And Function ◽  
Opening And Closing ◽  
Margin Control ◽  
Orbital Rim

Reconstruction of the medial and lateral canthal region can be quite challenging because in these two regions, soft tissue (canthal tendons) interacts directly with bony tissue to determine the location and function of the eyelids. Poor knowledge of the anatomy in these regions or poor surgical technique and planning can lead to poorly functioning eyelids in both opening and closing as well as associated lacrimal drainage and pump deficiency and aesthetic asymmetry. Tissue loss in these regions can be from many causes, including trauma, inflammation, and neoplasia. When dealing with malignant neoplasia, it is particularly important to ensure that surgical margins are free of tumor prior to reconstruction. Particularly in the medial canthus, incompletely excised lesions can spread deep into the orbit, into the periocular sinuses (ethmoid and maxillary), and down the nasolacrimal system. Therefore, excision with margin control (Mohs, frozen, or permanent sections) is warranted. When a tumor is heading toward the orbit, this author recommends margin control with permanent fixed tissue to ensure proper diagnosis. When tumor cannot be cleared with this technique an exenteration is offered. Repair of the canthal regions involves first repairing deep structures and any bony defects with autologous or synthetic materials, followed by resuspending eyelid structures to a location analogous to their native location. If remnants of the canthal tendon are present, it can be sutured to periosteum, or sutured or wired to bone through drilled pilot holes. Other techniques may involve using titanium miniplates to fixate the soft tissue to bone. If canthal tendon is not present, periosteum of the orbital rim can be fashioned into a flap simulating a canthal tendon, or the tarsus of the eyelid can be split with one arm forming a new canthal tendon. No matter what technique is used, care must be taken to ensure the tendon or tendon substitute is fixed into the orbit, deeper than the orbital rim; failure to do so will cause the eyelids to function poorly. Once deeper structures are restored, repair of the soft tissue must be undertaken.

scholarly journals Patterns of etiologies and soft tissue defects in the upper limb and use of different reconstruction modalities

2016 ◽  
Vol 11 (4) ◽  
Author(s):  
Saeed Ashraf Cheema
Keyword(s):  
Soft Tissue ◽  
Upper Limb ◽  
Primary Closure ◽  
Skin Grafting ◽  
Soft Tissue Coverage ◽  
Local Flaps ◽  
Soft Tissue Defects ◽  
Common Etiology ◽  
Tissue Defects

A total of 48 cases of soft tissue defects of upper limb were managed during one calendar year. This included 34 males and 14 females. Post burn complication was the most common etiology. Ten cases had machine injury while other 6 cases had household trauma. Another group of six cases had injuries during fireworks at various ceremonies. Whereas 17 cases were dealt by simple measures like healing by secondary intension, primary closure and skin grafting, 31 cases needed soft tissue coverage with various flaps. Only ten cases were dealt with the help of local flaps while rest of the 21 cases needed various regional and distant flaps.

scholarly journals Alterations in ZnT1 expression and function lead to impaired intracellular zinc homeostasis in cancer

2019 ◽  
Vol 5 (1) ◽  
Author(s):  
Adrian Israel Lehvy ◽  
Guy Horev ◽  
Yarden Golan ◽  
Fabian Glaser ◽  
Yael Shammai ◽  
...  
Keyword(s):  
Malignant Tumors ◽  
Zinc Homeostasis ◽  
Healthy Population ◽  
Missense Mutations ◽  
Protein Alignment ◽  
Loss Of Function ◽  
Intracellular Zinc ◽  
Dismal Prognosis ◽  
Zinc Levels ◽  
And Function

Abstract Zinc is vital for the structure and function of ~3000 human proteins and hence plays key physiological roles. Consequently, impaired zinc homeostasis is associated with various human diseases including cancer. Intracellular zinc levels are tightly regulated by two families of zinc transporters: ZIPs and ZnTs; ZIPs import zinc into the cytosol from the extracellular milieu, or from the lumen of organelles into the cytoplasm. In contrast, the vast majority of ZnTs compartmentalize zinc within organelles, whereas the ubiquitously expressed ZnT1 is the sole zinc exporter. Herein, we explored the hypothesis that qualitative and quantitative alterations in ZnT1 activity impair cellular zinc homeostasis in cancer. Towards this end, we first used bioinformatics to analyze inactivating mutations in ZIPs and ZNTs, catalogued in the COSMIC and gnomAD databases, representing tumor specimens and healthy population controls, respectively. ZnT1, ZnT10, ZIP8, and ZIP10 showed extremely high rates of loss of function mutations in cancer as compared to healthy controls. Analysis of the putative functional impact of missense mutations in ZnT1-ZnT10 and ZIP1-ZIP14, using homologous protein alignment and structural predictions, revealed that ZnT1 displays a markedly increased frequency of predicted functionally deleterious mutations in malignant tumors, as compared to a healthy population. Furthermore, examination of ZnT1 expression in 30 cancer types in the TCGA database revealed five tumor types with significant ZnT1 overexpression, which predicted dismal prognosis for cancer patient survival. Novel functional zinc transport assays, which allowed for the indirect measurement of cytosolic zinc levels, established that wild type ZnT1 overexpression results in low intracellular zinc levels. In contrast, overexpression of predicted deleterious ZnT1 missense mutations did not reduce intracellular zinc levels, validating eight missense mutations as loss of function (LoF) mutations. Thus, alterations in ZnT1 expression and LoF mutations in ZnT1 provide a molecular mechanism for impaired zinc homeostasis in cancer formation and/or progression.

scholarly journals The NALCN Channel Regulator UNC-80 Functions in a Subset of Interneurons To Regulate Caenorhabditis elegans Reversal Behavior

2019 ◽  
Vol 10 (1) ◽  
pp. 199-210 ◽  
Author(s):  
Chuanman Zhou ◽  
Jintao Luo ◽  
Xiaohui He ◽  
Qian Zhou ◽  
Yunxia He ◽  
...  
Keyword(s):  
Plant Hormone ◽  
Neuronal Excitability ◽  
Resting Membrane Potential ◽  
Loss Of Function ◽  
Wild Type ◽  
C Elegans ◽  
Link Type ◽  
Complex Functions ◽  
And Function ◽  
Multiple Loss

NALCN (Na+leak channel, non-selective) is a conserved, voltage-insensitive cation channel that regulates resting membrane potential and neuronal excitability. UNC79 and UNC80 are key regulators of the channel function. However, the behavioral effects of the channel complex are not entirely clear and the neurons in which the channel functions remain to be identified. In a forward genetic screen for C. elegans mutants with defective avoidance response to the plant hormone methyl salicylate (MeSa), we isolated multiple loss-of-function mutations in unc-80 and unc-79. C. elegans NALCN mutants exhibited similarly defective MeSa avoidance. Interestingly, NALCN, unc-80 and unc-79 mutants all showed wild type-like responses to other attractive or repelling odorants, suggesting that NALCN does not broadly affect odor detection or related forward and reversal behaviors. To understand in which neurons the channel functions, we determined the identities of a subset of unc-80-expressing neurons. We found that unc-79 and unc-80 are expressed and function in overlapping neurons, which verified previous assumptions. Neuron-specific transgene rescue and knockdown experiments suggest that the command interneurons AVA and AVE and the anterior guidepost neuron AVG can play a sufficient role in mediating unc-80 regulation of the MeSa avoidance. Though primarily based on genetic analyses, our results further imply that MeSa might activate NALCN by direct or indirect actions. Altogether, we provide an initial look into the key neurons in which the NALCN channel complex functions and identify a novel function of the channel in regulating C. elegans reversal behavior through command interneurons.

scholarly journals Maturation of the Na,K-ATPase in the Endoplasmic Reticulum in Health and Disease

2021 ◽  
Author(s):  
Vitalii Kryvenko ◽  
Olga Vagin ◽  
Laura A. Dada ◽  
Jacob I. Sznajder ◽  
István Vadász
Keyword(s):  
Endoplasmic Reticulum ◽  
Intracellular Signaling ◽  
Loss Of Function ◽  
Α Subunit ◽  
Rate Limiting Step ◽  
Atpase Subunits ◽  
A Cell ◽  
Health And Disease ◽  
And Function ◽  
Rate Limiting

Abstract The Na,K-ATPase establishes the electrochemical gradient of cells by driving an active exchange of Na+ and K+ ions while consuming ATP. The minimal functional transporter consists of a catalytic α-subunit and a β-subunit with chaperon activity. The Na,K-ATPase also functions as a cell adhesion molecule and participates in various intracellular signaling pathways. The maturation and trafficking of the Na,K-ATPase include co- and post-translational processing of the enzyme in the endoplasmic reticulum (ER) and the Golgi apparatus and subsequent delivery to the plasma membrane (PM). The ER folding of the enzyme is considered as the rate-limiting step in the membrane delivery of the protein. It has been demonstrated that only assembled Na,K-ATPase α:β-complexes may exit the organelle, whereas unassembled, misfolded or unfolded subunits are retained in the ER and are subsequently degraded. Loss of function of the Na,K-ATPase has been associated with lung, heart, kidney and neurological disorders. Recently, it has been shown that ER dysfunction, in particular, alterations in the homeostasis of the organelle, as well as impaired ER-resident chaperone activity may impede folding of Na,K-ATPase subunits, thus decreasing the abundance and function of the enzyme at the PM. Here, we summarize our current understanding on maturation and subsequent processing of the Na,K-ATPase in the ER under physiological and pathophysiological conditions. Graphic Abstract

scholarly journals Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

2021 ◽  
Author(s):  
Paolo Zanoni ◽  
Katharina Steindl ◽  
Deepanwita Sengupta ◽  
Pascal Joset ◽  
Angela Bahr ◽  
...  
Keyword(s):  
Loss Of Function ◽  
Mild Phenotype ◽  
Psychological Issues ◽  
Missense Variants ◽  
Mild Developmental Delay ◽  
Pathogenic Variants ◽  
In Silico Modeling ◽  
And Function ◽  
Methylation Activity

Abstract Purpose Despite a few recent reports of patients harboring truncating variants in NSD2, a gene considered critical for the Wolf–Hirschhorn syndrome (WHS) phenotype, the clinical spectrum associated with NSD2 pathogenic variants remains poorly understood. Methods We collected a comprehensive series of 18 unpublished patients carrying heterozygous missense, elongating, or truncating NSD2 variants; compared their clinical data to the typical WHS phenotype after pooling them with ten previously described patients; and assessed the underlying molecular mechanism by structural modeling and measuring methylation activity in vitro. Results The core NSD2-associated phenotype includes mostly mild developmental delay, prenatal-onset growth retardation, low body mass index, and characteristic facial features distinct from WHS. Patients carrying missense variants were significantly taller and had more frequent behavioral/psychological issues compared with those harboring truncating variants. Structural in silico modeling suggested interference with NSD2’s folding and function for all missense variants in known structures. In vitro testing showed reduced methylation activity and failure to reconstitute H3K36me2 in NSD2 knockout cells for most missense variants. Conclusion NSD2 loss-of-function variants lead to a distinct, rather mild phenotype partially overlapping with WHS. To avoid confusion for patients, NSD2 deficiency may be named Rauch–Steindl syndrome after the delineators of this phenotype.

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