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1.
Facts Views Vis Obgyn ; 15(3): 197-214, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37742197

RESUMEN

Background: Management of endometriosis should be based on the best available evidence. The pyramid of evidence reflects unbiased observations analysed with traditional statistics. Evidence-based medicine (EBM) is the clinical interpretation of these data by experts. Unfortunately, traditional statistical inference can refute but cannot confirm a hypothesis and clinical experience is considered a personal opinion. Objectives: A proof of concept to document clinical experience by considering each diagnosis and treatment as an experiment with an outcome, which is used to update subsequent management. Materials and Methods: Experience and knowledge-based questions were answered on a 0 to 10 visual analogue scale (VAS) by surgery-oriented clinicians with experience of > 50 surgeries for endometriosis. Results: The answers reflect the collective clinical experience of managing >10.000 women with endometriosis. Experience-based management was overall comparable as approved by >75% of answers rated ≥ 8/10 VAS. Knowledge-based management was more variable, reflecting debated issues and differences between experts and non-experts. Conclusions: The collective experience-based management of those with endometriosis is similar for surgery-oriented clinicians. Results do not conflict with EBM and are a Bayesian prior, to be confirmed, refuted or updated by further observations. What is new?: Collective experience-based management can be measured and is more than a personal opinion. This might extend EBM trial results to the entire population and add data difficult to obtain in RCTs, such as many aspects of surgery.

2.
Artículo en Inglés | MEDLINE | ID: mdl-35797605

RESUMEN

Complex regional pain syndrome (CRPS) is a potentially devastating condition that can result in severe psychological and social morbidity. It is a diagnosis of exclusion, and other pathologic entities must be ruled out first. Glomus tumors are exquisitely painful benign vascular tumors that are most common in the hand and are rarely found in the lower extremity. Here, we present a case of a patient who developed a focus of severe anterior knee pain and tenderness a few months after a car accident that had been misdiagnosed as CRPS for 15 years. She coincidentally developed a sarcoma of her ipsilateral leg distal to this site. Magnetic resonance imaging of the sarcoma included the area of knee pain where, interestingly, it identified a separate small soft-tissue mass. A glomus tumor was diagnosed histologically in a needle biopsy specimen from this mass, which was resected along with the sarcoma. For the first time in 15 years, despite the additional sarcoma surgery, she reported relief of her pain and complete resolution of her "CRPS."


Asunto(s)
Síndromes de Dolor Regional Complejo , Tumor Glómico , Histiocitoma Fibroso Maligno , Neoplasias de los Tejidos Blandos , Síndromes de Dolor Regional Complejo/diagnóstico , Síndromes de Dolor Regional Complejo/etiología , Errores Diagnósticos , Femenino , Tumor Glómico/diagnóstico , Tumor Glómico/cirugía , Humanos , Extremidad Inferior , Dolor , Neoplasias de los Tejidos Blandos/diagnóstico , Neoplasias de los Tejidos Blandos/diagnóstico por imagen
3.
Plast Reconstr Surg ; 150(3): 655e-670e, 2022 09 01.
Artículo en Inglés | MEDLINE | ID: mdl-35791292

RESUMEN

BACKGROUND: Negative-pressure wound therapy offers many advantages over standard surgical dressings in the treatment of open wounds, including accelerated wound healing, cost savings, and reduced complication rates. Although contraindicated by device manufacturers in malignancy-resected wounds because of hypothesized risk of tumor recurrence, negative-pressure wound therapy is still applied postoperatively because of limited clinical support. The authors performed a systematic review with meta-analysis to compare negative-pressure wound therapy outcomes with those of standard surgical dressings on open wounds, with their null hypothesis stating there would be no outcome differences. METHODS: A systematic review of the literature on negative-pressure wound therapy and standard surgical dressings on malignancy-resected wounds was conducted following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines using PubMed, Embase, CINAHL, and Cochrane Central databases. Meta-analysis compared group outcomes, including malignancy recurrence, wound complication, and surgical site infection rates, with a random effects model. RESULTS: A total of 1634 studies were identified and 27 met eligibility criteria, including four randomized controlled trials, four prospective cohort studies, and 19 retrospective reviews. Eighty-one percent of articles ( n = 22) recommended negative-pressure wound therapy in malignancy-resected wounds. Meta-analysis determined that the treatment yielded significantly lower overall surgical site infection ( p = 0.004) and wound complication ( p = 0.01) rates than standard surgical dressings; however, there were no statistically significant differences found for other outcomes between the two groups. CONCLUSIONS: This review demonstrates favorable outcomes of negative-pressure wound therapy over standard surgical dressings for malignancy-resected wounds without an increased risk of malignancy recurrence. However, because limited randomized controlled trials (detailing only incisional wounds for limited malignancies and anatomic regions) are available, additional high-power randomized controlled trials are recommended.


Asunto(s)
Terapia de Presión Negativa para Heridas , Vendajes , Humanos , Estudios Prospectivos , Estudios Retrospectivos , Infección de la Herida Quirúrgica/epidemiología , Infección de la Herida Quirúrgica/etiología , Infección de la Herida Quirúrgica/prevención & control
4.
J Orthop ; 32: 60-67, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35601210

RESUMEN

Background: Accurate reproduction of a preoperative plan is critical in wide resection of bone sarcomas. Recent advances in computer navigation and 3D-custom jigs have increased resection accuracy, although with certain practical drawbacks. Methods: We developed a novel "projector method" that projects the preoperative osteotomy lines onto the bone. A sawbone study was conducted to evaluate accuracy in reproducing preoperative resection plans. An additional cadaver experiment was conducted to evaluate feasibility in a more realistic operating room setting. Results: Based on the results of experiments conducted on sawbones, the proposed light projector method was more accurate at depicting desired osteotomy lines than a traditional manual method, reducing the corner deviation from 2.53 mm to 0.35 mm, angular deviation from 2.10° to 0.31°, and point deviation from 4.66 mm to 0.48 mm (p < 0.001). Results of the cadaver experiment were consistent with those of sawbone experiments. Conclusions: The new projector method can accurately assist surgeons in visualizing the preoperative plan of osteotomy lines accurately in surgery.

5.
Orthop Res Rev ; 14: 101-109, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35422661

RESUMEN

Introduction: Computer navigation and customized 3D-printed jigs improve accuracy during bone tumor resection, but such technologies can be bulky, costly, and require intraoperative radiation, or long lead time to be ready in OR. Methods: We developed a method utilizing a compact, inexpensive, non-X-ray based 3D surface light scanner to provide a visual aid that helps surgeons accurately draw osteotomy lines on the surface of exposed bone to reproduce a well-defined preoperative bone resection plan. We tested the accuracy of the method on 18 sawbones using a distal femur hemimetaphyseal resection model and compared it with a traditional, freehand method. Results: The method significantly reduces the positional error from 2.53 (±1.13) mm to 1.04 (±0.43) mm (p<0.001), and angular error of the front angle from 2.10° (±0.83°) to 0.80° (±0.66°) (p=0.001). The method also reduces the mean maximum deviation of the bone resection, with respect to the preoperative path, from 3.75mm to 2.69mm (p=0.003). However, no increased accuracy was observed at the back side of the bone surface where this method would not be expected to provide information. Discussion: In summary, we developed a novel 3D-LAD navigation technology. From the experimental study, we demonstrated that the method can improve the ability of surgeons to accurately draw the preoperative osteotomy lines and perform resection of a primary bone sarcoma, with comparison to traditional methods, using 18 sawbones.

6.
J Orthop Res ; 40(11): 2522-2536, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-35245391

RESUMEN

We developed a novel method using a combined light-registration/light-projection system along with an off-the-shelf, instant-assembly modular jig construct that could help surgeons improve bone resection accuracy during sarcoma surgery without many of the associated drawbacks of 3D printed custom jigs or computer navigation. In the novel method, the surgeon uses a light projection system to precisely align the assembled modular jig construct on the bone. In a distal femur resection model, 36 sawbones were evenly divided into 3 groups: manual-resection (MR), conventional 3D-printed custom jig resection (3DCJ), and the novel projector/modular jig (PMJ) resection. In addition to sawbones, a single cadaver experiment was also conducted to confirm feasibility of the PMJ method in a realistic operative setting. The PMJ method improved resection accuracy when compared to MR and 3DCJ, respectively: 0.98 mm versus 7.48 mm (p < 0.001) and 3.72 mm (p < 0.001) in mean corner position error; 1.66 mm versus 9.70 mm (p < 0.001) and 4.32 mm (p = 0.060) in mean maximum deviation error; 0.79°-4.78° (p < 0.001) and 1.26° (p > 0.999) in mean depth angle error. The PMJ method reduced the mean front angle error from 1.72° to 1.07° (p = 0.507) when compared to MR but was slightly worse compared to 0.61° (p = 0.013) in 3DCJ. The PMJ method never showed an error greater than 3 mm, while the maximum error of other two control groups were almost 14 mm. Similar accuracy was found with the PMJ method on the cadaver. A novel method using a light projector with modular jigs can achieve high levels of bone resection accuracy, but without many of the associated drawbacks of 3D printed jigs or computer navigation technology.


Asunto(s)
Neoplasias Óseas , Osteosarcoma , Sarcoma , Cirugía Asistida por Computador , Neoplasias Óseas/cirugía , Cadáver , Humanos , Cirugía Asistida por Computador/métodos
7.
J Orthop Res ; 40(10): 2340-2349, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-35119122

RESUMEN

Accurate bone registration is critical for computer navigation and robotic surgery. Existing registration systems are expensive, cumbersome, limited in accuracy and/or require intraoperative radiation. We recently reported a novel method of registration utilizing an inexpensive, compact, and X-ray-free structured-light 3D scanner. However, this technique is not always practical in a real surgical setting where soft tissue and blood can obstruct the continuous line-of-sight required for structured-light technology. We sought to remedy these limitations using a novel technique using rapid-setting impression molding to capture bone surface features and scan the undersurface of the mold with a structured-light scanner. The photonegative of this mold is compared to the preoperative computed tomography (CT)-scan to register the bone. A registration accuracy study was conducted on 36 CT-scanned femur sawbones, simulating typical exposure in hip/knee arthroplasty and bone tumor surgery. A cadaver experiment was also conducted to evaluate the feasibility of using the impression molding in a more realistic operating room setting. The registration accuracy of the proposed technique was 0.50 ± 0.19 mm. This was close to the reported accuracy of 0.43 ± 0.18 mm using a structured-light scanner without impression molding (p = 0.085). In comparison, historical values for "paired-point" and intraoperative CT image-based registration methods currently used in modern robotic/computer-navigation systems were 0.68 ± 0.14 mm (p = 0.004) and 0.86 ± 0.38 mm, respectively. The registration accuracy of the cadaver experiment was consistent with that of sawbone experiments. Although future studies are needed to extend to human subjects, this study shows that the impression molding method can produce comparable or better registration accuracy than the existing techniques.


Asunto(s)
Robótica , Cirugía Asistida por Computador , Cadáver , Fémur/diagnóstico por imagen , Fémur/cirugía , Humanos , Imagenología Tridimensional/métodos , Cirugía Asistida por Computador/métodos
8.
Facts Views Vis Obgyn ; 13(2): 141-148, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-34184843

RESUMEN

OBJECTIVE: To report on diagnosis and management of pelvic congestion including the May-Thurner syndrome (MTS) as potential etiologies for intractable pelvic neuropathic pain. DESIGN: Retrospective study of women presented with intractable pelvic neuropathic pain, who had left sided venous uterine plexus above 6mm with reversed and slow flow on Doppler, with dilated arcuate veins passing through the uterine muscle. Those with suspicion of MTS underwent further radiological investigations and if applicable, endovascular interventions. SETTING: Tertiary referral unit specialized in advanced gynaecological surgery and neuropelveology. INTERVENTION: 61 consecutive patients were included. 14 with visceral pain presumed to be caused by Pelvic Congestion Syndrome were treated by ovarian vein embolization. An improvement of pain was observed in all patients - mean pain reduction of 3.93 points, from 7.21 (±1.42; 4-10) to 3.28 pts (±1.54; 1-6) over 6 months (p<0.01). 47 presented with pelvic somatic neuropathic pain; 19 underwent endovascular intervention (angioplasty, stenting) and finally all of them a laparoscopic exploration/decompression of the sacral plexus and the endopelvic portion of the pudendal nerves, with an overall VAS reduction from 8.56 (±1.1712;7-10) to 2.63 (±1.53; 0-6) at one-year-follow-up (p<0.01). CONCLUSION: Laparoscopic exploration/decompression of the nerves seems to be effective in a carefully selected group of patients. Endovascular interventions for pelvic somatic neuropathies may not be an effective treatment. We recommend that Doppler studies of the uterine vessels are performed as an extension to gynaecological examination in women with intractable pelvic pain.

9.
J Orthop ; 23: 227-232, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33613005

RESUMEN

INTRODUCTION: Computer- and robotic-assisted technologies have recently been introduced into orthopedic surgery to improve accuracy. Each requires intraoperative "bone registration," but existing methods are time consuming, often inaccurate, and/or require bulky and costly equipment that produces substantial radiation. METHODS: We developed a novel method of bone registration using a compact 3D structured light surface scanner that can scan thousands of points simultaneously without any ionizing radiation.Visible light is projected in a specific pattern onto a 3 × 3 cm2 area of exposed bone, which deforms the pattern in a way determined by the local bone geometry. A quantitative analysis reconstructs this local geometry and compares it to the preoperative imaging, thereby effecting rapid bone registration.A registration accuracy study using our novel method was conducted on 24 CT-scanned femur Sawbones®. We simulated exposures typically seen during knee/hip arthroplasty and common bone tumor resections. The registration accuracy of our technique was quantified by measuring the discrepancy of known points (i.e., pre-drilled holes) on the bone. RESULTS: Our technique demonstrated a registration accuracy of 0.44 ± 0.22 mm. This compared favorably with literature-reported values of 0.68 ± 0.14 mm (p-value = 0.001) for the paired-point technique13 and 0.86 ± 0.38 mm for the intraoperative CT based techniques 14 (not enough reported data to calculate p-value). CONCLUSION: We have developed a novel method of bone registration for computer and robotic-assisted surgery using 3D surface scanning technology that is rapid, compact, and radiation-free. We have demonstrated increased accuracy compared to existing methods (using historical controls).

10.
Sci Rep ; 10(1): 8514, 2020 05 22.
Artículo en Inglés | MEDLINE | ID: mdl-32444843

RESUMEN

The immunology and microbiota of the female genital tract (FGT) are key determinants of HIV susceptibility. Cervical cytobrush sampling is a relatively non-invasive method permitting the longitudinal assessment of endocervical immune cells, but effects on FGT immunology are unknown. Blood, cervico-vaginal secretions and cervical cytobrushes were collected from sexually transmitted infection (STI)-free women at baseline and after either 6 hours or 48 hours. Endocervical immune cell subsets were assessed by flow cytometry, and pro-inflammatory cytokines by multiplex ELISA. The density of Lactobacillus species and key bacterial vaginosis-associated bacterial taxa were determined by qPCR. Paired changes were assessed before and after cytobrush sampling. After 6 hours there were significant increases in CD4 + T cell, antigen presenting cell (APC) and neutrophil numbers; APC elevations persisted at 48 hours, while neutrophil and CD4 + T cell numbers returned to baseline. In addition, pro-inflammatory cytokine levels were increased at 6 hours and returned to baseline by 48 hours. No significant changes were observed in the absolute abundance of Lactobacillus species or BV-associated bacteria at either time point. Overall, cytobrush sampling altered genital immune parameters at 6 hours, but only APC number increases persisted at 48 hours. This should be considered in longitudinal analyses of FGT immunology.


Asunto(s)
Cuello del Útero/inmunología , Infecciones por VIH/epidemiología , VIH/aislamiento & purificación , Microbiota/inmunología , Manejo de Especímenes/métodos , Vagina/inmunología , Vaginosis Bacteriana/inmunología , Adolescente , Adulto , Canadá/epidemiología , Cuello del Útero/microbiología , Cuello del Útero/virología , Citocinas/análisis , Citocinas/inmunología , Femenino , Infecciones por VIH/diagnóstico , Infecciones por VIH/etiología , Humanos , Estudios Prospectivos , Vagina/microbiología , Vagina/virología , Vaginosis Bacteriana/microbiología , Vaginosis Bacteriana/virología , Carga Viral , Adulto Joven
11.
J Orthop Surg (Hong Kong) ; 28(1): 2309499020902539, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32124672

RESUMEN

Soft tissue sarcomas may be treated with limb-sparing procedures in the majority of cases; however, certain cases involving significant tumor spread and fungation may call for amputation. In the thigh, hip disarticulation typically involves a pedicled gluteus maximus flap or a pedicled anterior quadriceps flap. In this case report, we describe a rare situation in which the anterior flap, posterior flap, and adductor flap musculature were contaminated with tumor; therefore, a hip disarticulation was performed applying a pedicled total leg fillet flap for closure. Eighteen months after treatment, the patient continues to have no local recurrence of disease, a stable flap site, and ambulates with a walker. We present this amputation and closure method as a potentially effective modality in treating extensive oncologic disease of the proximal lower extremity.


Asunto(s)
Desarticulación/métodos , Recurrencia Local de Neoplasia/cirugía , Procedimientos de Cirugía Plástica/métodos , Músculo Cuádriceps/cirugía , Sarcoma/cirugía , Colgajos Quirúrgicos , Femenino , Humanos , Persona de Mediana Edad , Músculo Esquelético/patología , Recurrencia Local de Neoplasia/diagnóstico , Sarcoma/diagnóstico
13.
J Am Acad Orthop Surg Glob Res Rev ; 2(9): e012, 2018 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-30465034

RESUMEN

Giant cell tumor of bone is a relatively rare type of bone tumor, accounting for approximately 4.9% to 9% of all primary osseous neoplasms.1 Management options include intralesional curettage, or more uncommonly, wide resection. This process is then followed by reconstruction with bone graft or bone cementation. We present a case of giant cell tumor of bone adjacent to the tibial component of a preexisting total knee arthroplasty, treated with extensive curettage, argon beam coagulation, polymethyl methacrylate cementation with strut reinforcement, and mesh reconstruction of the extensor mechanism. Twenty months after treatment, the patient was recurrence free with a stable prosthesis and had return to functional activity. We report this treatment modality as a potentially effective method of approaching this rare orthopaedic entity.

14.
J Foot Ankle Surg ; 57(6): 1263-1266, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30146337

RESUMEN

Pigmented villonodular synovitis mostly affects the knee and other large joints such as the hip. Although the disease is most commonly found in adult patients aged 30 to 40 years, rare cases in children and the elderly have been reported. We present the case of an 11-year-old female who was found to have biopsy-proven pigmented villonodular synovitis in her subtalar joint in 2012. Five years after surgical excision, the patient has continued to be involved in competitive dancing and cheerleading without any pain in her ankle. Moreover, follow-up magnetic resonance imaging studies showed no evidence of recurrence. Our case report emphasizes that the disease should not be solely considered in the middle-age population but should be included in the differential diagnosis of the pediatric patient.


Asunto(s)
Articulación del Tobillo , Sinovitis Pigmentada Vellonodular/diagnóstico , Sinovitis Pigmentada Vellonodular/cirugía , Niño , Femenino , Humanos
15.
J Gynecol Obstet Hum Reprod ; 46(2): 155-158, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-28403972

RESUMEN

OBJECTIVES: To evaluate feasibility of performing benign gynecologic pathology low pressure (7mmHg) laparoscopy (LPL) with AirSeal® system and to study benefits in terms of postoperative pain, when compared to a standard insufflation group (15mmHg). MATERIALS AND METHODS: In this prospective randomized pilot study, 60 patients had laparoscopy for gynecologic benign pathology: 30 with 7mmHg and AirSeal system, and 30 with 15mmHg standard insufflator. The primary endpoint was incidence of shoulder pain. A postoperative questionnaire was completed by each patient to assess shoulder pain (Numeric Rating Scale [NRS], from 0 to 10) at H4, H8, H24, and consumption of morphinics was notified. During each procedure, anesthesia parameters were collected (peak airway pressure, systolic blood pressure, end tidal CO2). RESULTS: Laparoscopy was performed on 30 patients in AirSeal®-LP group without need to increase pressure above 7mmHg, and no complication was reported. Incidence of shoulder pain was significantly lower in the AirSeal®-LP group (23.3% vs. 73.3%, P<0.001). NRS shoulder pain was significantly lower in AirSeal® LP group at hour 4, 8 and 24. Maximal values of ETCO2, systolic blood pressure, and peak airway pressure were significantly lower in AirSeal®-LP group. CONCLUSION: LP (7mmHg) laparoscopy with AirSeal® platform allows laparoscopic surgery with less postoperative shoulder pain. These results could facilitate the development of ambulatory laparoscopy.


Asunto(s)
Procedimientos Quirúrgicos Ginecológicos , Insuflación , Laparoscopía , Neumoperitoneo Artificial/métodos , Neumoperitoneo Artificial/normas , Adulto , Estudios de Factibilidad , Femenino , Procedimientos Quirúrgicos Ginecológicos/efectos adversos , Procedimientos Quirúrgicos Ginecológicos/métodos , Procedimientos Quirúrgicos Ginecológicos/normas , Humanos , Insuflación/efectos adversos , Insuflación/métodos , Insuflación/normas , Laparoscopía/efectos adversos , Laparoscopía/métodos , Laparoscopía/normas , Persona de Mediana Edad , Dimensión del Dolor , Dolor Postoperatorio/etiología , Proyectos Piloto , Neumoperitoneo Artificial/efectos adversos , Presión , Dolor de Hombro/etiología , Nivel de Atención , Adulto Joven
16.
Clin Otolaryngol ; 42(3): 592-596, 2017 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-27762065

RESUMEN

OBJECTIVES: To underline the value of the microendoscopic CO2 -LASER-assisted treatment (MEDCO2 ) for Zenker's diverticulum by investigating a large patient cohort treated in a single medical centre. DESIGN: Retrospective cohort study of consecutive patients. SETTING: Department of Otorhinolaryngology, Head and Neck Surgery, Christian-Albrechts-University Kiel, Germany. PARTICIPANTS: A total of 227 patients with Zenker's diverticulum were treated by MEDCO2 , and the results were compared with those reported in the literature for the open transcervical approach (OTA) and the endoscopic staple-assisted oesophagodiverticulostomy (ESED). OUTCOME MEASUREMENTS: Data assessment regarding preoperative symptoms, perioperative management, morbidity, mortality and longtime results. Comparison of results with data from the literature regarding MEDCO2 , ESED and OTA. RESULTS: Operation duration: 25 min median; morbidity: 4.7%; mortality: 0%; mediastinitis: 0.9%; hospitalisation: 7 days; feeding tube dependency: 4 days; recurrence rate: 6.1%. Rise of body temperature above 38°C and 39°C in 36.7% and 12.2% of cases on first postoperative day, respectively. CONCLUSIONS: The results identify MEDCO2 as superior in comparison with ESED and OTA concerning the treatment for Zenker's diverticulum especially in terms of excellent long-term functional results and a low morbidity and mortality. The short operation time qualifies MEDCO2 as specifically suitable for the treatment of the characteristic patient cohort with Zenker's diverticulum, namely the elderly, whereas OTA should be reserved for cases with sophisticated or impossible endoscopic exposure of the pouch. The occurrence of perioperative fever can be managed with a systemic antibiotic and antipyretic medication. Although a mediastinitis as major complication is a rare event, the early introduction of its diagnosis with CT scans and consecutive therapy including thoracotomies can be lifesaving.


Asunto(s)
Esofagoscopía/métodos , Esofagostomía/métodos , Predicción , Gastrostomía/métodos , Láseres de Gas/uso terapéutico , Divertículo de Zenker/cirugía , Anciano , Femenino , Estudios de Seguimiento , Alemania/epidemiología , Humanos , Masculino , Morbilidad/tendencias , Periodo Posoperatorio , Estudios Retrospectivos , Tasa de Supervivencia/tendencias , Resultado del Tratamiento , Divertículo de Zenker/epidemiología
17.
Allergol Immunopathol (Madr) ; 45(1): 82-86, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-27789066

RESUMEN

BACKGROUND: The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders, which have been rarely reported to be associated with growth hormone deficiency (GHD). METHODS AND RESULTS: A nine-year-old girl with recurrent urinary tract infections, diarrhoea, sinopulmonary infections, and failure to thrive since the age of six months had normal CD3+, CD4+, CD8+T lymphocytes, and CD19+B lymphocytes and natural killer (NK) cells, but extremely elevated IgM and significantly decreased IgG and IgA. In view of the patient's short stature, growth hormone evaluation was carried out and growth hormone deficiency established. The patient underwent Ig replacement therapy and received growth hormone therapy in addition to antibiotics and responded well. Furthermore, the patient developed benign cervical lymphadenopathy, as well as elevated erythrocyte sedimentation rate, positive autoantibodies to SSA-Ro, and severely dry eyes, which partially responded to both the punctate occlusion and systemic corticosteroids, at the age of seven years. Sequencing analysis of the exons from activation-induced cytidine deaminase (AICDA) gene revealed that the patient was homozygous for a single T to C transversion at position 455 in exon 4, which replaces a Valine with an Alanine. CONCLUSIONS: To our knowledge, this is a new AICDA mutation, which has not been reported previously in HIGM. The mutation analysis could improve diagnosis of HIGM patients and also elaborating on the spectrum of AICDA mutations.


Asunto(s)
Citidina Desaminasa/genética , Enanismo Hipofisario/genética , Hormona del Crecimiento/uso terapéutico , Síndrome de Inmunodeficiencia con Hiper-IgM/genética , Mutación Missense/genética , Corticoesteroides/uso terapéutico , Autoinmunidad/genética , Niño , Análisis Mutacional de ADN , Femenino , Genotipo , Terapia de Reemplazo de Hormonas , Humanos , Inmunoglobulina M/sangre , Lactante , Irán , Linaje , Fenotipo
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