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1.
Avicenna J Med ; 14(2): 115-122, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38957155

RESUMEN

Background The ongoing conflict in Syria has significantly affected the health care system, particularly in the realm of rheumatology. The purpose of this study is to assess the current state of rheumatic diseases in the northwestern region of Syria, where the health care infrastructure has been severely impacted. Methods This was a retrospective study reviewing all patients with rheumatologic conditions seen in internal medicine clinics in northwest Syria between September 2019 and February 2022. Baseline demographic data and diagnoses were collected retrospectively, without any data duplication, from outpatient clinic records. The study also reviewed the availability of investigations and drugs in the northwestern region of Syria. Results We analyzed data from 488 patients (average age: 37.4; 63% female) diagnosed with rheumatic diseases. The most prevalent condition was connective tissue disorders (25.6%), with osteoarthritis (12.1%) and rheumatoid arthritis (8.2%) following. The ongoing conflict has led to a significant shortage of rheumatologists, with only three serving a population of 5.5 million. Furthermore, the conflict has disrupted the provision and quality of rheumatology diagnostic tests, reducing patient accessibility. The dearth of medications and increased costs have compounded the complexity of health care for those with rheumatic diseases. Conclusions This study highlights the urgent need for improved health care services and proposes solutions to address gaps in rheumatic care in northwest Syria.

3.
Cureus ; 15(9): e46133, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37900416

RESUMEN

BACKGROUND: Thyroid diseases can affect various bodily functions and often go unnoticed. Tools such as sonography and fine needle aspiration (FNA) puncture are necessary to diagnose diseases that require surgical intervention. These tools help identify signs of malignancy or benignity and obtain further data to guide therapeutic decisions. This study aims to validate the relationship between sonographic results, FNA, and final thyroid pathology. This research describes the level of correlation between sonographic findings and FNA, the sonographic and final pathology reports, and the FNA and final pathology reports. Additionally, this research aims to identify the most common diagnoses in the final pathology. METHODS: A retrospective descriptive observational study was carried out with a sample of 95 patients who underwent thyroid surgery at the National Institute of Diabetes, Endocrinology, and Nutrition (INDEN), Dominican Republic, in 2019 to determine whether a relationship exists between the sonography findings, FNA, and the final pathology in surgical thyroid pathologies. RESULTS: A total of 95 patients were studied. The success rate of the sonography results compared with the benign final biopsy result was 100% and 45.9% with the malignant final biopsy result. The success rate of the fine needle biopsy results was 95.9% for the benign final biopsy and 28% for the malignant final biopsy. Of the malignant final biopsy reports, 84.6% were papillary carcinomas, 7.7% were follicular carcinomas, and 7.7% were medullary carcinomas. CONCLUSIONS: The relationship between the sonographic results, FNA, and histopathological findings of surgical thyroid diseases is validated. The sonographic findings are specific for diagnosing benignity and malignancy. A fine needle biopsy is useful for diagnosing benignity, and the final biopsy is the standard for confirming both benign and malignant pathologies.

4.
Med Arch ; 76(5): 377-382, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36545448

RESUMEN

Background: Human health is the single most asset that any one person can and need to have it as qualitative as.. Despite this, however, there are occasions when things go wrong in practice and the patients wind up getting hurt while they are receiving treatment at the healthcare facility Obtaining and maintaining a good health are the goals of individuals and communities, which require having good medical systems. In rare cases, malpractice of medical systems may occur, a matter that affects patients and health providers. Objective: The main objectives of the present study were to review the literature for medical malpractice and how the application of criminal law impacts the medical practice. Methods: This is descriptive review based on the related studies published in scientific literature and deposited in on-line indexed databases. Results and Discussion: Main findings of the study showed that medical errors are likely to increase overtime. Malpractice is likely to take place as if good intention to do the best. Activation of criminal law against medical malpractice may put stress on medical staff, and may be a triggering factor for improving services submitted to the patients. Conclusion: Activation of criminal law against medical errors places stress on medical community from one side, and may be a triggering factor for improving services from another side.


Asunto(s)
Derecho Penal , Mala Praxis , Humanos
5.
Dermatol Surg ; 48(11): 1159-1165, 2022 11 01.
Artículo en Inglés | MEDLINE | ID: mdl-36095258

RESUMEN

BACKGROUND: Perineural invasion (PNI) is considered a high-risk histopathologic feature in many skin cancers. Perineural invasion is a well-known poor prognostic factor of squamous cell carcinoma, but is poorly understood in the context of basal cell carcinoma (BCC). OBJECTIVE: To analyze available demographic, clinical, and treatment data for BCC with PNI and the effect of these variables on recurrence patterns, disease progression, and cancer-specific mortality (CSM). METHODS: A systematic review and pooled-survival analysis was performed using case reports and series of patients with perineural BCC. RESULTS: This review included 159 patients from 49 publications. Of these cases, 57 patients reported at least one recurrence. Where reported, median follow-up time was 31 months for patients without recurrence ( n = 79) and 21 months for patients with recurrence ( n = 32). The cumulative incidence of CSM at 5 years was 8.5% (95% confidence interval [CI] 0.028-0.186) and the overall five-year survival was 90.9% (95% CI 0.796-0.961). CONCLUSION: Male gender, multifocal nerve involvement, presence of clinical symptoms, and PNI detected on imaging are associated with poor prognosis of BCC with PNI. The high rate of disease recurrence and suboptimal cumulative incidence of CSM highlights the importance of early clinical detection, before the onset of symptomatic PNI and multifocal nerve involvement.


Asunto(s)
Carcinoma Basocelular , Carcinoma de Células Escamosas , Humanos , Masculino , Invasividad Neoplásica/patología , Recurrencia Local de Neoplasia/epidemiología , Carcinoma Basocelular/cirugía , Carcinoma Basocelular/patología , Carcinoma de Células Escamosas/patología , Análisis de Supervivencia , Pronóstico , Nervios Periféricos/patología , Estudios Retrospectivos
6.
Cureus ; 14(4): e24544, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-35651440

RESUMEN

Lipomas are common benign mesenchymal tumours that may occur in many regions of the body. Giant neck lipomas are uncommon, especially when they arise from the neck and extend into the thorax. In this case report, we present a unique case of a giant submuscular lipoma involving the posterior neck triangle extending down to the scapular tip. A 43-year-old male presented with a six-month history of two slow-growing masses involving the left neck and scapular region. MRI demonstrated a single large fat suppressing lesion underlying the left trapezius muscle extending down to the scapula with homogenous signal return and smooth outline measuring 4.5x7.5 cm by 16 cm. Histology showed features consistent with lipoma. Giant lipomas in the neck post a significant diagnostic and surgical challenge. The importance of pre-operative planning and patient involvement in decision-making are essential.

7.
Surg Endosc ; 36(12): 8784-8789, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-35543770

RESUMEN

BACKGROUND: Limited evidence exists describing the optimum protocol for intraoperative cholangiography (IOC) during laparoscopic cholecystectomy (LC). Images saved during surgery often fail to highlight the necessary anatomical landmarks and documentation is variable. Our aim was to identify the key characteristics of an optimal IOC and evaluate current practice at our institution. METHODS: A literature search identified quality indicators for performing IOC and documenting key findings. A standardised proforma for scoring IOC was developed. Retrospective analysis was conducted of consecutive IOCs performed during elective LC. Visual documentation of seven anatomical landmarks on the captured IOC images and textual reporting in the operation note were assessed. RESULTS: One hundred IOCs were evaluated. Only 32 (34%) of captured images had all 7 landmarks present. All cases failed to document all seven landmarks. There was a significant difference between landmarks that could be identified on the captured images and their documentation. CONCLUSIONS: This study suggests that IOC image capture of the key seven landmarks and their textual reporting in this cohort is sub-optimal. We believe IOC technique, minimal data set for reporting and image capture should be standardised to allow better communication of findings and facilitate meaningful comparative research relating to the subject.


Asunto(s)
Colangiografía , Colecistectomía Laparoscópica , Humanos , Estudios Retrospectivos , Colecistectomía Laparoscópica/métodos , Procedimientos Quirúrgicos Electivos , Estudios de Cohortes , Cuidados Intraoperatorios
8.
Cureus ; 14(3): e23443, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-35481320

RESUMEN

Enhanced recovery after surgery (ERAS) protocols are the current standard of care when it comes to improving post-surgical outcomes in breast cancer patients. Compliance with all protocol items is required in order for patients to experience significant benefits. Given that the ERAS protocols involve numerous medications which each have unique side effect profiles and medication interactions, this is often difficult to accomplish. Additionally, breast cancer patients are often left with a large psychological burden, which ERAS protocols fail to address. This review aims to determine the role that alternative therapies can play in improving both the emotional and physical strains patients experience during the post-operative stage of recovery. A PubMed search was conducted using the following search terms ("alternative medicine" or "complementary medicine" or "integrative medicine" or "holistic medicine" or "natural medicine" or "mediation" or "aromatherapy" or "music" or "art" or "reiki" or "massage") and ("surgery") and ("pain"). Studies selected for this review include articles published or translated in English that addressed alternative medical interventions affecting pre-, peri-, or post-operative outcomes in breast biopsies, surgeries, or breast-related procedures. Eighteen articles fit the inclusion criteria, with seven addressing music, five addressing meditation, yoga, and guided imagery, five addressing massage, one addressing myofascial release, four addressing aromatherapy, two addressing acupuncture, and three addressing hypnosis. Most forms of alternative therapies offered some benefit to patients following breast-related procedures, many resulting in improvements in post-operative outcomes including pain, fatigue, energy, stress, anxiety, mood, and depression. The reviewed studies demonstrated numerous benefits to integrating alternative medicine into standardized therapy to improve postoperative outcomes. Most studies analyzed did not include placebo controls as including proper placebos was often not feasible. Future studies with larger sample sizes are needed to better quantify the benefits patients receive from these noninvasive, low-risk complementary therapies.

9.
Plast Reconstr Surg Glob Open ; 10(4): e4255, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-35441063

RESUMEN

Failure of complete closure of the velopharyngeal sphincter results in velopharyngeal insufficiency (VPI), which may severely interfere with speech. The pharyngeal flap remains a common procedure for correcting VPI. We aimed to study whether customization of pharyngeal flaps using a dynamic preprocedural assessment can result in successful outcomes in the surgical treatment of VPI, despite variations in surgical technique. Methods: This is a retrospective review of patients between the ages 4 and 18 years old with VPI who underwent surgical correction by one of four surgeons at our institution. All four surgeons used a superiorly based pharyngeal flap (SBPF) with slight variations in operative technique. All patients also received an evaluation by the speech and language pathologist that included nasometry, multiplanar videofluoroscopy, and flexible videonasopharyngoscopy. Individualized preoperative planning was performed based on the findings. Results: In total, 158 patients (92%) demonstrated overall successful correction of VPI, defined by a normal post-operative mean nasalance. Thirteen patients (8%) presented with resonance improvement but persistent abnormal mean nasalance. The most common causes of failed VPI correction were inferior migration and/or shrinking of the pharyngeal flap. There was a nonsignificant association between surgical technique and unsuccessful corrections. Conclusions: The optimal surgical approach for performing pharyngeal flaps to correct VPI is individualized, customizing the procedure based on preoperative imaging. This study demonstrates that despite variations in surgical techniques for performing SBPF, high rates of success can be achieved when adequate surgical planning is based on imaging findings.

10.
Children (Basel) ; 9(4)2022 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-35455536

RESUMEN

This study evaluates practices of infection control in the NICU as compared with the available literature. We aimed to assess providers' awareness of their institutional policies, how strongly they believed in those policies, the correlation between institution size and policies adopted, years of experience and belief in a policy's efficacy, and methods employed in the existing literature. An IRB-approved survey was distributed to members of the AAP Neonatal Section. A systematic review of the literature provided the domains of the survey questions. Data was analyzed as appropriate. A total of 364 providers responded. While larger NICUs were more likely to have policies, their providers are less likely to know them. When a policy is in place and it is known, providers believe in the effectiveness of that policy suggesting consensus or, at its worst, groupthink. Ultimately, practice across the US is non-uniform and policies are not always consistent with best available literature. The strength of available literature is adequate enough to provide grade B recommendations in many aspects of infection prevention. A more standardized approach to infection prevention in the NICU would be beneficial and is needed.

11.
Med Arch ; 76(6): 413-418, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36937616

RESUMEN

Background: Following the consideration of COVID-19 as pandemic by the World Health Organization (WHO), developing new vaccinations against COVID-19 was the dream of humanity. Leading companies competed to achieve this task. Several vaccinations have been developed relatively quickly. Objective: The aim of the present study was to review the literature regarding medical, ethical, and legal aspects of COVID-19 vaccination. Methods: Literature was reviewed regarding various issues of COVID-19 vaccinations. Results and Discussion: The main findings showed that a dilemma exists in literature regarding the ethics in general in keeping the rights of individuals to retain their rights to receive the vaccine and considering receiving the vaccination as compulsory. Conclusion: As the disease has become pandemic with high mortality rates, keeping the safety of the community has received the priority on individual rights, and many countries considered compulsory vaccinations.


Asunto(s)
COVID-19 , Humanos , COVID-19/prevención & control , Vacunas contra la COVID-19/uso terapéutico , Vacunación
12.
Arab J Gastroenterol ; 22(3): 240-245, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34531134

RESUMEN

Small bowel adenocarcinomas (SBAs) are rare tumors of the gastrointestinal tract. Patients often present with advanced disease due to nonspecific symptoms and delayed diagnoses. In combination with non-uniform treatment paradigms, patients who present with SBA often have poor prognoses. In this case series, we present four cases of SBA and review the most recent literature with regard to diagnosis and management. One patient presented with iron-deficient anemia (IDA), and three patients presented with clinical obstruction. The patient with IDA was subjected to protracted investigations, whereas the three patients with obstruction were diagnosed quickly after presentation. All four patients underwent surgical resection, and one patient was eligible for post-operative adjuvant chemotherapy. SBA should be highly suspected in patients who present with occult gastrointestinal bleeds, and appropriate investigations must be initiated. Following diagnosis, surgical resection is the mainstay of treatment for this disease. Our review supports the use of both neoadjuvant and adjuvant chemotherapy in localized disease.


Asunto(s)
Adenocarcinoma , Neoplasias Duodenales , Adenocarcinoma/diagnóstico , Adenocarcinoma/terapia , Quimioterapia Adyuvante , Hemorragia Gastrointestinal , Humanos , Periodo Posoperatorio
13.
J Family Med Prim Care ; 10(4): 1792-1794, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-34123931

RESUMEN

Severe acute respiratory syndrome coronavirus-2 (SARS CoV-2) infection causes the disease known as coronavirus disease that started in Wuhan (China) in December 2019, leading to the current COVID-19 pandemic. The common presenting symptoms include fever, dry cough, shortness-of-breath, while sore throat, diarrhea, and abdominal and chest pain are the least. The atypical presentation of SARS CoV-2 infection poses a challenge for family physicians to screen and manage such patients for COVID-19 and specifically those at high risk with underlying disease such a sickle cell disease. Herein, we report a case of SARS CoV-2 infection in a known patient of sickle cell disease (SCD) with an atypical presentation, in whom the course of the disease was mild to moderate, uncomplicated, and the patient had an uneventful recovery. Primary care physicians should be vigilant to screen and manage such patients with established protocols, especially in the ongoing COVID-19 pandemic.

14.
Haematologica ; 106(6): 1581-1590, 2021 06 01.
Artículo en Inglés | MEDLINE | ID: mdl-32439725

RESUMEN

Leukocytes that lack HLA allelic expression are frequently detected in patients with acquired aplastic anemia (AA) who respond to immunosuppressive therapy (IST), although the exact mechanisms underlying the HLA loss and HLA allele repertoire likely to acquire loss-of-function mutations are unknown. We identified a common nonsense mutation at position 19 (c.19C>T, p.R7X) in exon 1 (Exon1mut) of different HLA-A and -B alleles in HLA-lacking granulocytes from AA patients. A droplet digital PCR (ddPCR) assay capable of detecting as few as 0.07% Exon1mut HLA alleles in total DNA revealed the mutation was present in 29% (101/353) of AA patients, with a median allele frequency of 0.42% (range, 0.071% to 21.3%). Exon1mut occurred in only 12 different HLA-A (n=4) and HLA-B (n=8) alleles, including B*40:02 (n=31) and A*02:06 (n=15), which correspond to 4 HLA supertypes (A02, A03, B07, and B44). The percentages of patients who possessed at least one of these 12 HLA alleles were significantly higher in the 353 AA patients (92%, P.


Asunto(s)
Anemia Aplásica , Codón sin Sentido , Alelos , Anemia Aplásica/genética , Exones , Antígenos HLA-A/genética , Antígenos HLA-B/genética , Humanos
15.
Eur Arch Otorhinolaryngol ; 278(2): 437-443, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32930842

RESUMEN

PURPOSE: Acute oesophageal food impaction is a common and potentially life-threatening condition. Effervescent agents have been used to manage these patients. To date, there have not been any studies comparing the differences in commercially available beverages in relieving food bolus impaction. The aim of this study was to design an in vitro system where the pressure changes generated by different commercially available beverages could be compared in the presence of different food items. METHODS: A closed in vitro system was designed using a flask and manometer. Different food items [potato, beef, chicken, and no food item (control)] and different beverages (Coca-Cola®, lemonade, 7 Up Free, Prosecco and water) were inserted into this system in turn. For each food item and beverage, pressure changes (cmH2O) were recorded over a 3-min period. RESULTS: Comparing the different food items, the potato appeared to cause the greatest increases in pressure over most time points with all beverages except Coca-Cola® and water. Between the beverages, the lemonade and Prosecco seemed to generate the greatest pressure changes; lemonade generating higher (but non-significant) pressures than the Prosecco with the potato and control. CONCLUSION: Our study demonstrates that, in vitro, amongst the beverages, lemonade and Prosecco generated the greatest increases in pressure, whilst potatoes generated a greater reaction than the other food items. These findings need to be studied in further detail and, if deemed clinically relevant, may prompt further investigation for their use in the clinical setting.


Asunto(s)
Bebidas , Alimentos , Bebidas Gaseosas , Humanos
16.
Ortop Traumatol Rehabil ; 21(5): 339-348, 2019 Oct 31.
Artículo en Inglés | MEDLINE | ID: mdl-31774061

RESUMEN

BACKGROUND: Recent evidence suggests that cryotherapy may be beneficial in reducing postoperative pain and blood loss in joint arthroplasty. The objective of this study was to review the use of cryotherapy in the early postoperative phase after total hip arthroplasty to assess the benefits in terms of pain relief and reduction in postoperative blood loss. MATERIAL AND METHODS: A prospective cohort study of the use of a cryotherapy device (Hilotherm) was performed in patients following total hip arthroplasty. The primary outcome measures were visual analogue score (VAS) for pain (at 24 and 48 hours postoperatively), and amount of postoperative blood loss, measured by change in haemoglobin (g/L). The secondary outcome measures were length of stay (days), duration of patient controlled analgesia (PCA) administered postoperatively (hours) and amount of analgesia used (mg) in the first 48 hours. RESULTS: 28 patients were recruited (n=13 Hilotherm; n= 15 non-Hilotherm). Hilotherm application reduced pain in the first 24 hours, non-significantly, (3.50±2.41 vs 4.90±2.95; p=0.185). This effect was not carried through at 48 hours postoperatively (5.68±1.94 vs 3.72±2.46; p=0.029). Hilotherm application significantly reduced postoperative blood loss (22.38±5.71 g/L vs 29.13±10.22 g/L; p=0.045). Hilotherm reduced length of stay by almost 1 day; however, this was not statistically significant (4.46±2.33 vs 5.20±3.55; p=0.528). There was no difference in the length of time PCA was administered (22.30±0.75 vs 22.02±3.26; p=0.763). Patients in the non-Hilotherm group required more paracetamol on average (p=0.001). CONCLUSIONS: 1. Hilotherm application does not appear to significantly reduce pain postoperatively but re-sults in less postoperative blood loss. 2. There may be a role for the continued use of cryotherapy in the early period of rehabilitation following total hip arthroplasty, as it appears to result in more rapid ambulatory rehabilitation in patients, resulting in reduced length of stay.


Asunto(s)
Artroplastia de Reemplazo de Cadera/rehabilitación , Crioterapia/métodos , Dolor Postoperatorio/rehabilitación , Cuidados Posoperatorios/métodos , Hemorragia Posoperatoria/rehabilitación , Rehabilitación/métodos , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos
17.
Ortop Traumatol Rehabil ; 21(1): 41-44, 2019 Feb 28.
Artículo en Inglés | MEDLINE | ID: mdl-31019109

RESUMEN

BACKGROUND: A significant proportion of emergency department (ED) presentations are related to trampoline injuries. The aims of this study were to assess whether presentations to the ED as a result of a trampoline injury have an increased incidence of requiring intervention as opposed to other mechanisms of injury in children under 9 years old. MATERIALS AND METHODS: Retrospective observational assessment of ED presentations of children under 9 years old recorded in the European Injuries Database (EU IDB) in 2014. RESULTS: Of a total of 28135 ED presentations, 4.4% (n=1257) were as a direct result of trampoline injuries. 38.6% (n=486) of these patients required further intervention (inpatient treatment/outpatient treatment/transfer to another facility) compared to other injury mechanisms such as sport (43.8%; 992/2263), falls from a height (28.3%; 5756/20363), park injuries (42.5%; 641/1507) and road traffic accidents (RTAs) (40.9%; 1124/2745). There was no statistically significant difference between trampoline injuries (38.6%) and road traffic accidents (40.9%), in terms of requiring further intervention (Fisher's exact test p=0.18). CONCLUSION: Injuries from trampolines, although a small proportion of all injuries recorded, have a similar incidence of requiring intervention when compared to other, major, modes of injury such as RTAs in this age group - this information has implications for current public health policy and parental approval of this activity.


Asunto(s)
Servicio de Urgencia en Hospital/estadística & datos numéricos , Juego e Implementos de Juego/lesiones , Heridas y Lesiones/terapia , Niño , Preescolar , Femenino , Humanos , Incidencia , Masculino , Estudios Retrospectivos , Reino Unido/epidemiología , Heridas y Lesiones/epidemiología
18.
J Gastrointest Surg ; 23(4): 690-695, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-29845574

RESUMEN

BACKGROUND: The objectives of this study were to develop a grading system to enable pre-operative prediction of technical difficulty of laparoscopic cholecystectomy using retrospective data and to attempt to validate our scoring system prospectively. METHODS: Retrospective analysis was conducted of 100 consecutive patients. Pre-operative variables were collected based on a template devised by the American College of Surgeons. Outcomes were duration of surgery, conversion to open and post-operative complications. Multivariate analysis with subsequent measurement of hazard ratios was used to formulate a weighted grading system. Prospective analysis was performed of 100 consecutive patients who were scored pre-operatively. Outcomes were duration of surgery and length of stay. RESULTS: Retrospective univariate analysis identified four variables associated with an increase in duration of surgery: male gender (p = 0.023), age (p = 0.000), body mass index (BMI) (p = 0.000) and pre-operative endoscopic retrograde cholangiopancreatography (ERCP) (p = 0.001). Prospective analysis revealed weak positive correlations between the scoring system and duration of surgery (0.34) and length of stay (0.40). CONCLUSION: We have identified four pre-operative variables that predicted a longer duration of surgery. Preliminary results suggest a positive correlation between this scoring system and duration of surgery. An adequately powered prospective multi-centre study is needed to validate our findings.


Asunto(s)
Colecistectomía Laparoscópica , Reglas de Decisión Clínica , Cuidados Preoperatorios/métodos , Adulto , Anciano , Anciano de 80 o más Años , Toma de Decisiones Clínicas/métodos , Femenino , Humanos , Tiempo de Internación/estadística & datos numéricos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Tempo Operativo , Evaluación de Resultado en la Atención de Salud , Estudios Prospectivos , Reproducibilidad de los Resultados , Estudios Retrospectivos
19.
Genet Med ; 20(11): 1414-1422, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-29543232

RESUMEN

PURPOSE: Thoracic aortic aneurysm/aortic dissection (TAAD) is a disorder with highly variable age of onset and phenotype. We sought to determine the prevalence of pathogenic variants in TAAD-associated genes in a mixed cohort of sporadic and familial TAAD patients and identify relevant genotype-phenotype relationships. METHODS: We used a targeted polymerase chain reaction and next-generation sequencing-based panel for genetic analysis of 15 TAAD-associated genes in 1,025 unrelated TAAD cases. RESULTS: We identified 49 pathogenic or likely pathogenic (P/LP) variants in 47 cases (4.9% of those successfully sequenced). Almost half of the variants were in nonsyndromic cases with no known family history of aortic disease. Twenty-five variants were within FBN1 and two patients were found to harbor two P/LP variants. Presence of a related syndrome, younger age at presentation, family history of aortic disease, and involvement of the ascending aorta increased the risk of carrying a P/LP variant. CONCLUSION: Given the poor prognosis of TAAD that is undiagnosed prior to acute rupture or dissection, genetic analysis of both familial and sporadic cases of TAAD will lead to new diagnoses, more informed management, and possibly reduced mortality through earlier, preclinical diagnosis in genetically determined cases and their family members.


Asunto(s)
Aneurisma de la Aorta Torácica/genética , Colágeno Tipo I/genética , Fibrilina-1/genética , Receptor Tipo I de Factor de Crecimiento Transformador beta/genética , Adolescente , Adulto , Edad de Inicio , Anciano , Aorta Torácica/fisiopatología , Aneurisma de la Aorta Torácica/diagnóstico , Aneurisma de la Aorta Torácica/fisiopatología , Niño , Cadena alfa 1 del Colágeno Tipo I , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Masculino , Persona de Mediana Edad , Mutación , Linaje , Análisis de Secuencia de ADN
20.
Eur Arch Otorhinolaryngol ; 274(10): 3613-3617, 2017 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28808766

RESUMEN

The insertion of grommets has been one of the most common procedures carried out by ENT surgeons for patients with persistent middle ear fluid. There has always been apprehension at the use of grommets by patients undertaking swimming or other water sports due to concerns of grommet penetration by water into the middle ear. Despite this, no common consensus exists amongst otolaryngologists regarding post-operative advice following grommet insertion. Most studies focus on surface swimming and do not consider other activities such as diving that patients may undertake. This study aimed to determine the hydrostatic head required for water to pass through a grommet using different water-based solutions. These were selected to simulate conditions such as swimming and showering or bathing. An improved model of a grommeted middle ear (based on previous work by Ricks et al.) was constructed using two 5-ml plastic syringes, latex (from a surgical glove), two rubber neoprene membranes and a Shah Ventilation Tube (1.14 mm). Different water solutions were added to the system and the hydrostatic head measured using digital calipers. The results revealed that the hydrostatic head required to penetrate a grommet is lowest using soapy water and highest with distilled water. The differences between chlorinated water and 3% saline were not significant. We hope that this study can be used in conjunction with previous work to better prepare the ENT surgeon in giving suitable post-operative advice following grommet insertion.


Asunto(s)
Baños/efectos adversos , Buceo/efectos adversos , Oído Medio , Ventilación del Oído Medio , Otitis Media con Derrame/cirugía , Complicaciones Posoperatorias , Oído Medio/patología , Oído Medio/fisiopatología , Oído Medio/cirugía , Humanos , Ventilación del Oído Medio/efectos adversos , Ventilación del Oído Medio/métodos , Otitis Media con Derrame/diagnóstico , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/prevención & control , Proyectos de Investigación , Jabones , Deportes Acuáticos
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