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1.
Head Neck ; 46(4): 721-727, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38165002

RESUMEN

BACKGROUND: There is a lack of consensus regarding the effectiveness of salivary bypass tubes during total pharyngectomy reconstruction to prevent pharyngocutaneous fistula or pharyngoesophageal stricture. METHODS: Our study examined tubed free flap reconstruction outcomes for total pharyngectomy defects over 11 years at a single tertiary referral center. We compared postoperative fistula and stricture rates between two groups: those with salivary bypass tubes inserted during reconstruction and those without. RESULTS: Among 36 patients, 26 had radial forearm, and 10 had anterolateral thigh free flap reconstruction. 53% received salivary bypass tubes. However, the tubes did not significantly reduce the relative risks of fistula or stricture. Notably, neck dissection during total pharyngectomy was associated with increased fistula incidence. Minor salivary bypass tube-related complications affected 21% of subjects. CONCLUSION: The role of salivary bypass tubes in total pharyngectomy reconstruction remains uncertain.


Asunto(s)
Fístula Cutánea , Colgajos Tisulares Libres , Procedimientos de Cirugía Plástica , Humanos , Faringectomía/efectos adversos , Constricción Patológica/etiología , Estudios Retrospectivos , Procedimientos de Cirugía Plástica/efectos adversos , Fístula Cutánea/etiología , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/prevención & control , Laringectomía/efectos adversos
2.
Laryngoscope ; 134(4): 1642-1647, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37772913

RESUMEN

OBJECTIVES: Microvascular free tissue transfer is routinely used for reconstructing midface defects in patients with malignancy, however, studies regarding reconstructive outcomes in invasive fungal sinusitis (IFS) are lacking. We aim to describe outcomes of free flap reconstruction for IFS defects, determine the optimal time to perform reconstruction, and if anti-fungal medications or other risk factors of an immunocompromised patient population affect reconstructive outcomes. METHODS: Retrospective review of reconstruction for IFS (2010-2022). Age, BMI, hemoglobin A1c, number of surgical debridements, and interval from the last debridement to reconstruction were compared between patients with delayed wound healing versus those without. Predictor variables for delayed wound healing and the effect of time on free flap reconstruction were analyzed. RESULTS: Twenty-seven patients underwent free flap reconstruction for IFS. Three patients were immunocompromised from leukemia and 21 had diabetes mellitus (DM). Patients underwent an average of four surgical debridements for treatment of IFS. The interval from the last IFS debridement to flap reconstruction was 5.58 months (±5.5). Seven flaps (25.9%) had delayed wound healing. A shorter interval of less than 2 months between the last debridement for IFS and reconstructive free flap procedure was associated with delayed wound healing (Fisher Exact Test p = 0.0062). Other factors including DM, BMI, HgA1c, and bone reconstruction were not associated with delayed wound healing. CONCLUSION: Patients with maxillectomy defects from IFS can undergo microvascular-free flap reconstruction with good outcomes while on anti-fungal medication. Early reconstruction in the first 2 months after the last IFS debridement is associated with delayed wound healing. LEVEL OF EVIDENCE: 4 Laryngoscope, 134:1642-1647, 2024.


Asunto(s)
Colgajos Tisulares Libres , Infecciones Fúngicas Invasoras , Senos Paranasales , Procedimientos de Cirugía Plástica , Sinusitis , Humanos , Colgajos Tisulares Libres/irrigación sanguínea , Huesos Faciales , Sinusitis/cirugía , Sinusitis/microbiología , Estudios Retrospectivos
3.
Ann Otol Rhinol Laryngol ; 133(2): 239-243, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37534717

RESUMEN

OBJECTIVES: To report a case of a 71-year-old woman who presented 8 years following 2 endoscopic brow lift procedures for evaluation of bony irregularities of her frontoparietal skull. To highlight a novel complication of Endotine fixation following an endoscopic brow lift procedure. METHODS: A chart review, bicoronal cranioplasty and a review of literature. RESULTS: The patient was satisfied with her post-surgical outcome and no complications were observed at the 1-month follow-up visit. A review of the literature revealed no previous reports of focal skull osteolysis relating to Endotine implants. CONCLUSION: We believe that our patient's focal calvarial osteolysis is a direct complication of Endotine fixation. Future research into the long-term effects of endoscopic brow lift procedures using Endotine implants is necessary to help ensure patient safety and guide future practices.


Asunto(s)
Osteólisis , Ritidoplastia , Humanos , Femenino , Anciano , Osteólisis/etiología , Osteólisis/cirugía , Cejas , Ritidoplastia/métodos , Endoscopía , Cráneo/cirugía
4.
Laryngoscope ; 2023 Nov 08.
Artículo en Inglés | MEDLINE | ID: mdl-37937733

RESUMEN

INTRODUCTION: Coronavirus disease 2019 (COVID-19) affects the vascular system, subjecting patients to a hypercoagulable state. This is of particular concern for the success of microvascular free flap reconstruction. This study aims to report head and neck free flap complications in patients with COVID-19 during the perioperative period. We believe these patients are more likely to experience flap complications given the hypercoagulable state. METHODS: This is a multi-institutional retrospective case series of patients infected with COVID-19 during the perioperative period for head and neck free flap reconstruction from March 2020 to January 2022. RESULTS: Data was collected on 40 patients from 14 institutions. Twenty-one patients (52.5%) had a positive COVID-19 test within 10 days before surgery and 7 days after surgery. The remaining patients had a positive test earlier than 10 days before surgery. A positive test caused a delay in surgery for 16 patients (40.0%) with an average delay of 44.7 days (9-198 days). Two free flap complications (5.0%) occurred with no free flap deaths. Four patients (10.0%) had surgical complications and 10 patients had medical complications (25.0%). Five patients (12.5%) suffered from postoperative COVID-19 pneumonia. Three deaths were COVID-19-related and one from cancer recurrence during the study period. CONCLUSION: Despite the heightened risk of coagulopathy in COVID-19 patients, head and neck free flap reconstructions in patients with COVID-19 are not at higher risk for free flap complications. However, these patients are at increased risk of medical complications. LEVEL OF EVIDENCE: 4 Laryngoscope, 2023.

5.
Head Neck ; 45(8): 1975-1978, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37278125

RESUMEN

OBJECTIVES: Iatrogenic injury of the fibula free flap pedicle is rare. Postoperative flap survival and reconstructive outcomes following intraoperative pedicle severance are unknown. This study assesses free flap outcomes following accidental severance of the peroneal vessels. METHODS: Multi-institutional retrospective chart review from 2000 to 2020. RESULTS: Of 2975 harvested fibula free flaps, 26 had a history of pedicle severance during surgical reconstruction. Reasons for intraoperative pedicle severance included transection during muscular dissection 10/26 (39%), accidental severance with the bone saw 12/26 (46%), and other 4/26 (15.6%). The surgeon responsible for pedicle severance included residents 5/26 (19%), fellows 10/26 (39%), attendings 10/26 (39%), and unknown 1/26 (3.9%). The pedicle artery and vein were severed 10/26 (39%), artery 8/26 (31%), and vein 8/26 (31%). Truncated pedicle vessels were used 3/26 (11.7%), intraoperative anastomoses were performed 23/26 (89%). Postoperative revision in the OR within 7 days of surgery was required 6/26 (23%); 4 flaps were salvaged and 2 flaps failed, both arterial thrombosis. Flap failure was attributed to vascular thrombosis. Long-term flap survival and successful reconstructions were reported 24/26 (92%). CONCLUSION: Accidental severance of fibula free flap pedicle vessels can be corrected with intraoperative repair, without affecting long-term flap survival or reconstructive outcomes. Protecting the flap vessels while using the bone saw and during intramuscular dissection prevents accidental severance.


Asunto(s)
Colgajos Tisulares Libres , Procedimientos de Cirugía Plástica , Humanos , Colgajos Tisulares Libres/irrigación sanguínea , Estudios Retrospectivos , Venas/cirugía , Peroné/cirugía
6.
Laryngoscope ; 133(2): 302-306, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-35656557

RESUMEN

EDUCATIONAL OBJECTIVE: Assess outcomes of pediatric facial reconstruction with fibula free flaps. OBJECTIVES: Free flap reconstruction of complex maxillofacial defects in pediatric patients is rare. Post-operative complications, donor site morbidity, impact on craniofacial growth, and oro-dental rehabilitation are unknown. Our study assesses the outcomes of pediatric maxillofacial reconstruction with composite fibula free flaps. STUDY DESIGN: Retrospective chart review. METHODS: Multi-institutional retrospective chart review from 2000 to 2020 on pediatric patients undergoing maxillomandibular reconstruction with fibula free flaps. RESULTS: Eighty-seven patients underwent 89 surgeries; 5 maxillary and 84 mandibular defects. Median age: 12 years. Defects were acquired following resection of sarcoma/carcinoma 44% or benign tumors 50%. 73% of cases had immediate free flap reconstruction. Closing osteotomies were reported in 74%; 1 in 40%, 2 in 27%, and more than 2 in 6.7%. Hardware was used in 98% and removed in 25%. 9.2% demonstrated long-term hardware exposure, greater than 3 months following reconstruction. Short-term complications: wound infection 6.7%, flap salvage/failure 2.2%, fistula 1.1%, and compromised craniofacial growth: 23%. Two patients developed trismus. Long-term fibula donor site complications: hypertrophic scarring: 3.4%, dysesthesia: 1.1%, and long-term gait abnormality: 1.1%. Dental rehabilitation was performed in 33%. Post-operative speech outcomes showed 94% with fully intelligible speech. CONCLUSION: Pediatric maxillary and mandible defects repaired with fibula free flaps demonstrated complication rates comparable to the adult free flap population. Long-term follow-up did not demonstrate adverse outcomes for craniofacial growth. Hardware for flap retention was utilized and remained in place with minimal exposure. Post-operative gait abnormality is rare. LEVEL OF EVIDENCE: 3 Laryngoscope, 133:302-306, 2023.


Asunto(s)
Colgajos Tisulares Libres , Neoplasias Mandibulares , Reconstrucción Mandibular , Procedimientos de Cirugía Plástica , Niño , Humanos , Trasplante Óseo , Colgajos Tisulares Libres/cirugía , Mandíbula/cirugía , Neoplasias Mandibulares/cirugía , Procedimientos de Cirugía Plástica/efectos adversos , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/cirugía , Estudios Retrospectivos
7.
Otolaryngol Head Neck Surg ; 165(6): 827-829, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-33722119

RESUMEN

After a salvage total laryngectomy, one of patients' primary goals is to resume oral intake. This retrospective chart review included all patients who underwent a salvage total laryngectomy with free or pedicled flap reconstruction to compare swallowing outcomes in those with an incorporated flap or primary pharyngeal closure with an onlay flap. There was no significant difference in the ability to achieve complete feeding tube independence or the time that it took to achieve independence. Patients with an onlay flap had significantly lower rates of subjective dysphagia and stricture as compared with patients with incorporated flaps. Incorporated fasciocutaneous flaps showed no significant difference from onlay flaps in terms of outcomes. However, incorporated musculocutaneous flaps showed higher rates of subjective dysphagia and stricture when compared with onlay flaps. Patients undergoing a salvage total laryngectomy and reconstruction with an onlay flap had significantly less postoperative dysphagia and stricture than patients with a musculocutaneous incorporated flap.


Asunto(s)
Trastornos de Deglución/etiología , Laringectomía/métodos , Terapia Recuperativa/métodos , Colgajos Quirúrgicos , Anciano , Constricción Patológica , Deglución , Esófago/patología , Femenino , Humanos , Laringectomía/efectos adversos , Masculino , Persona de Mediana Edad , Colgajo Miocutáneo , Procedimientos de Cirugía Plástica , Estudios Retrospectivos
8.
Head Neck ; 42(4): 719-724, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-31886597

RESUMEN

BACKGROUND: To determine if there was a difference in postoperative outcomes of head and neck free flap reconstruction patients treated in a specialty step-down unit compared to a nonspecialty intensive care unit (ICU). METHODS: A retrospective review was performed of all patients who underwent free flap reconstruction for head and neck defects from 2014 to 2017 at Loyola University Medical Center. Patients managed postoperatively in the ICU were compared to patients managed in a specialty step-down unit. Postoperative outcomes, length of stay, and readmission were compared. RESULTS: Three hundred and five patients were included in the study. Patients managed postoperatively in the specialty step-down unit had comparable rates of postoperative complications and flap failure as ICU patients. Step-down patients had significantly shorter lengths of stay (Mdn = 5 days, IQR = 5-7 days) than patients in the ICU (Mdn = 6 days, IQR = 5-6 days; P < .001).


Asunto(s)
Colgajos Tisulares Libres , Neoplasias de Cabeza y Cuello , Procedimientos de Cirugía Plástica , Colgajos Tisulares Libres/cirugía , Neoplasias de Cabeza y Cuello/cirugía , Humanos , Unidades de Cuidados Intensivos , Tiempo de Internación , Complicaciones Posoperatorias/epidemiología , Estudios Retrospectivos
9.
Otolaryngol Head Neck Surg ; 160(6): 1019-1022, 2019 06.
Artículo en Inglés | MEDLINE | ID: mdl-30717618

RESUMEN

OBJECTIVE: The goal of this study was to determine the incidence of postoperative tachycardia and its predictive value of complications in patients following microvascular free flap surgery in the head and neck. STUDY DESIGN: Retrospective chart review. SETTING: Single tertiary care academic medical center. SUBJECTS AND METHODS: All patients who underwent a microvascular free flap of the head and neck by surgeons in the department of otolaryngology from 2013 to 2017 were included in this study. RESULTS: Of the 344 who patients met inclusion criteria, 40.4% had a maximum heart rate (HR) of the hospitalization over 110 beats per minute (bpm). Patients with a maximum HR greater than 110 bpm were 19 times more likely to experience a composite vascular complication (myocardial infarction, myocardial necrosis, or pulmonary embolism) than patients with a maximum HR <110 bpm ( P = .0063). Patients with a history of chronic kidney disease were also noted to have an increased risk of experiencing a postoperative composite vascular event. CONCLUSION: Postoperative tachycardia is significantly associated with adverse outcomes and should not be dismissed as a normal variant. Identifying patients at an increased risk of having an underlying complication can help guide interpretation, workup, and management of postoperative patients in the head and neck population.


Asunto(s)
Colgajos Tisulares Libres , Neoplasias de Cabeza y Cuello/cirugía , Microcirugia/efectos adversos , Procedimientos de Cirugía Plástica/efectos adversos , Complicaciones Posoperatorias/epidemiología , Taquicardia/epidemiología , Anciano , Femenino , Neoplasias de Cabeza y Cuello/complicaciones , Neoplasias de Cabeza y Cuello/fisiopatología , Humanos , Incidencia , Modelos Logísticos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos
11.
Clin Neurol Neurosurg ; 134: 91-7, 2015 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-25974398

RESUMEN

The last two decades of neurosurgery have seen flourishing use of the endonasal approach for the treatment of skull base tumors. Safe and effective resections of neoplasms requiring intracranial arterial dissection have been performed using this technique. Recently, there have been a growing number of case reports describing the use of the endonasal approach to surgically clip cerebral aneurysms. We review the use of these approaches in intracranial aneurysm clipping and analyze its advantages, limitations, and consider future directions. Three major electronic databases were queried using relevant search terms. Pertinent case studies of unruptured and ruptured aneurysms were considered. Data from included studies were analyzed. 8 case studies describing 9 aneurysms (4 ruptured and 5 unruptured) treated by the endonasal approach met inclusion criteria. All studies note the ability to gain proximal and distal control and successful aneurysm obliteration was obtained for 8 of 9 aneurysms. 1 intraoperative rupture occurred and was controlled, and delayed complications of cerebrospinal fluid leak, vasospasm, and hydrocephalus occurred in 1, 1, and 2 patients, respectively. Described limitations of this technique include aneurysm orientation and location, the need for lower profile technology, and challenges with handling intraoperative rupture. The endonasal approach for clipping of intracranial aneurysms can be an effective approach in only very select cases as demonstrated clinically and through cadaveric exploration. Further investigation with lower profile clip technology and additional studies need to be performed. Options of alternative therapy, limitations of this approach, and team experience must first be considered.


Asunto(s)
Aneurisma Roto/cirugía , Aneurisma Intracraneal/cirugía , Neuroendoscopía/métodos , Complicaciones Posoperatorias , Pérdida de Líquido Cefalorraquídeo , Humanos , Hidrocefalia , Cirugía Endoscópica por Orificios Naturales , Nariz , Instrumentos Quirúrgicos , Vasoespasmo Intracraneal
12.
Otolaryngol Head Neck Surg ; 150(1): 47-52, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24270163

RESUMEN

OBJECTIVE: Major causes of donor site morbidity after free flap harvest are lack of split-thickness skin graft (STSG) take and tendon exposure. Long-term cosmesis remains poor. AlloDerm has shown cosmetically better donor site healing, albeit prolonged healing. We sought to evaluate the use of STSG with AlloDerm compared with STSG alone. STUDY DESIGN: Case series with chart review. SETTING: Academic tertiary care medical center. METHODS AND SUBJECTS: Institutional review board-approved study. Microvascular database queried from 2002 to 2012. Subjects with forearm free flaps and either AlloDerm + STSG or STSG alone for donor site reconstruction were included. Morbidity outcomes were compared. RESULTS: Eighty patients (50 male, 30 female) received AlloDerm + STSG at the donor site. Major and minor donor site complications were 15.0% and 18.8% in the AlloDerm + STSG group compared with 10.2% and 16.9% in the STSG-only group (P = .30 and P = .72), respectively. Complete STSG loss (5.0% vs 3.0%, P = .48), tendon exposure (5.0% vs 5.4%, P = 1.0), functional impairment (2.5% vs 1.8%, P = .66), infection (8.8% vs 9.6%, P = 1.0), hematoma/seroma (5.0% vs 3.6%, P = .73), and paresthesia (1.3% vs 3.6%, P = .43) were not significant. No patients required a second STSG after loss in the AlloDerm + STSG group compared with 60% (P = .17). Cosmetic results were superior in the AlloDerm + STSG group as rated by the surgeon (3.5 vs 2.6, P = .03) and patients (3.7 vs 2.9, P = .05) on a scale of 1 to 5. CONCLUSION: Our results suggest that the use of AlloDerm with STSG can provide thicker coverage of the forearm defect, with minimal donor site morbidity and superior cosmetic results compared with STSG alone.


Asunto(s)
Colágeno/uso terapéutico , Antebrazo , Trasplante de Piel , Sitio Donante de Trasplante , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Trasplante de Piel/métodos
13.
Head Neck ; 36(10): 1431-4, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-24038553

RESUMEN

BACKGROUND: Stomal recurrence in patients after laryngectomy has a poor prognosis. Studies performed using sternal resection with pectoralis flap reconstruction report <25% 2-year survival. The purpose of this study was to ascertain whether the use of larger resection with free flap reconstruction improves survival. METHODS: Thirteen cases of stomal recurrence that underwent extended sternal resection and free flap reconstruction were identified and classified according to Sisson criteria. Postoperative morbidity, mortality, and survival were assessed. RESULTS: Median survival was 10 months in patients with Sisson types I and II, with 37.5% 1-year and 25% 2-year survival. Median survival was 6 months in patients with Sisson types III and IV, with 40% 1-year and 0% 2-year survival. There were 2 perioperative deaths and a major morbidity rate of 45%. CONCLUSION: Salvage surgery using free flap reconstruction did not show improved survival rates compared with previously described techniques.


Asunto(s)
Colgajos Tisulares Libres , Neoplasias Laríngeas/cirugía , Procedimientos de Cirugía Plástica/métodos , Esternón/cirugía , Anciano , Anciano de 80 o más Años , Neoplasias Esofágicas/cirugía , Femenino , Humanos , Laringectomía , Masculino , Persona de Mediana Edad , Neoplasias Nasofaríngeas/cirugía , Estomas Quirúrgicos
14.
Restor Neurol Neurosci ; 31(2): 169-76, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23247060

RESUMEN

PURPOSE: To investigate the effects of the androgen testosterone propionate (TP), on regeneration of the recurrent laryngeal nerve (RLN) after unilateral crush injury using assessment of vocal fold mobility (VFM) as a measure of behavioral recovery. METHODS: 48 adult male rats underwent standardized crush injury of left RLN and received treatment in the form of 2 silastic capsules containing TP or controls receiving a blank capsule (untreated). Direct laryngoscopic assessment of vocal cord mobility was performed before, immediately following and 1, 2, 3, 4, 5 or 6 weeks post injury. RESULTS: Treatment with TP enhanced the recovery of full VFM following crush injury of the RLN compared to controls. There was statistically significant improvement in VFM seen at the 1 and 2 week time points (p < 0.05). By 4 weeks TP-treated rats displayed a 100% recovery of VFM function, compared to only 50% by the control group. CONCLUSIONS: TP enhances RLN functional recovery following a crush injury, which further supports its potential general applicability as a therapeutic agent in peripheral nerve injury.


Asunto(s)
Andrógenos/uso terapéutico , Nervios Laríngeos/fisiología , Regeneración Nerviosa/efectos de los fármacos , Recuperación de la Función/efectos de los fármacos , Traumatismos del Nervio Laríngeo Recurrente/tratamiento farmacológico , Propionato de Testosterona/uso terapéutico , Andrógenos/farmacología , Animales , Nervios Laríngeos/efectos de los fármacos , Masculino , Regeneración Nerviosa/fisiología , Ratas , Ratas Sprague-Dawley , Traumatismos del Nervio Laríngeo Recurrente/fisiopatología , Propionato de Testosterona/farmacología
15.
Laryngoscope ; 122(7): 1474-9, 2012 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-22565542

RESUMEN

OBJECTIVES/HYPOTHESIS: To evaluate perioperative complications in a homogeneous cohort undergoing microvascular osteocutaneous free flap (OCFF) reconstruction following segmental mandibulectomy for advanced oral cancer and to identify the causes of late OCFF failures. STUDY DESIGN: Retrospective chart review. METHODS: The records of 65 adults who underwent a segmental mandibulectomy for primary oral cavity cancer followed by single-stage reconstruction OCFF were reviewed. Early and late complications were identified and their associations to patients' independent variables and to each other were analyzed to assess etiologic causes of late OCFF failure. RESULTS: The incidence of early and late complications mirrored each another at 29%, and a 95% early-success rate was achieved. An early complication did predict an early infection (odds ratio [OR], 63.3; 95% confidence interval [CI], 6.8-585.3). Furthermore, an early perioperative infection impacted the incidence of late complications (OR, 4.8; 95% CI, 1.3-18.3), and moreover severely impacted the incidence of osteomyelitis/osteoradionecrosis (OR, 8.8; 95% CI, 1.8-41.9) and late failures (OR, 12.8; 95% CI, 1.9-84.5). CONCLUSIONS: Mandibular reconstruction following segmental mandibulectomy provides immediate restoration but is often plagued with perioperative complications that are difficult to predict. Early perioperative infections impact patient long-term morbidity by increasing the risk of late graft failure by almost 13-fold. Consequently, it is felt that early aggressive treatment of these infections may reduce the incidence and severity of late complications and improve patient outcomes.


Asunto(s)
Trasplante Óseo , Colgajos Tisulares Libres , Neoplasias Mandibulares/cirugía , Neoplasias de la Boca/cirugía , Procedimientos Quirúrgicos Orales/métodos , Procedimientos de Cirugía Plástica , Trasplante de Piel , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Colgajos Tisulares Libres/efectos adversos , Humanos , Masculino , Persona de Mediana Edad , Procedimientos Quirúrgicos Orales/efectos adversos , Procedimientos de Cirugía Plástica/efectos adversos , Estudios Retrospectivos , Insuficiencia del Tratamiento
16.
J Clin Endocrinol Metab ; 95(5): 2281-5, 2010 May.
Artículo en Inglés | MEDLINE | ID: mdl-20335448

RESUMEN

CONTEXT: Generalized glucocorticoid resistance syndrome is a rare familial or sporadic condition characterized by partial insensitivity to glucocorticoids, caused by mutations in the glucocorticoid receptor (GR) gene. Most of the reported cases are adults, demonstrating symptoms associated with mineralocorticoid and/or adrenal androgen excess caused by compensatively increased secretion of the adrenocorticotropic hormone. PATIENT: We identified a new 2-yr-old female case of generalized glucocorticoid resistance syndrome. The patient (TJ) presented with a generalized seizure associated with hypoglycemia and hypokalemia. She also had hypertension and premature pubarche, whereas dexamethasone effectively suppressed these clinical manifestations. RESULTS: The patient's GR gene had a heterozygotic mutation (G-->A) at nucleotide position 2141 (exon 8), which resulted in substitution of arginine by glutamine at amino acid position 714 in the ligand-binding domain (LBD) of the GR alpha. Molecular analysis revealed that the mutant receptor had significantly impaired transactivation activity with a 2-fold reduction in affinity to ligand. It showed attenuated transactivation of the activation function (AF)-2 and reduced binding to a p160 nuclear receptor coactivator. Computer-based structural analysis revealed that replacement of arginine by glutamine at position 714 transmitted a conformational change to the LBD and the AF-2 transactivation surface, resulting in a decreased binding affinity to ligand and to the LXXLL coactivator motif. CONCLUSIONS: Dexamethasone treatment is effective in controlling the premature pubarche, hypoglycemia, hypertension, and hypokalemia in this child case, wherein arginine 714 plays a key role in the proper formation of the ligand-binding pocket and the AF-2 surface of the GR alpha LBD.


Asunto(s)
Glucocorticoides/metabolismo , Mutación Puntual , Receptores de Glucocorticoides/genética , Sustitución de Aminoácidos , Arginina/genética , Sitios de Unión , Exones/genética , Femenino , Glucocorticoides/genética , Glutamina/genética , Humanos , Hipoglucemia/genética , Hipopotasemia/genética , Lactante , Ligandos , Polimorfismo de Nucleótido Simple , Conformación Proteica , Pubertad Precoz/genética , Receptores de Glucocorticoides/química , Receptores de Glucocorticoides/metabolismo
17.
Work ; 21(1): 25-36, 2003.
Artículo en Inglés | MEDLINE | ID: mdl-12897388

RESUMEN

More than 1,300 individuals with multiple sclerosis (MS) responded to an employment concerns survey. The results from this survey served as the topics of discussion for seven focus groups including people with MS and service providers in four states. Recommendations to improve the employment outcomes of people with MS that emerged from these discussions clustered in three areas: employment policies and practices, Social Security benefits, and healthcare. Strategies for preserving strengths in employment supports for people with MS clustered in two areas, access to respectful service providers and personal control.


Asunto(s)
Empleo , Esclerosis Múltiple/rehabilitación , Política Organizacional , Rehabilitación Vocacional , Femenino , Humanos , Masculino , Encuestas y Cuestionarios , Estados Unidos
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