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Lynch syndrome (LS) is an inherited cancer predisposition syndrome associated with high lifetime risk of developing tumours, most notably colorectal and endometrial. It arises in the context of pathogenic germline variants in one of the mismatch repair genes, that are necessary to maintain genomic stability. LS remains underdiagnosed in the population despite national recommendations for empirical testing in all new colorectal and endometrial cancer cases. There are now well-established colorectal cancer surveillance programmes, but the high rate of interval cancers identified, coupled with a paucity of high-quality evidence for extra-colonic cancer surveillance, means there is still much that can be achieved in diagnosis, risk-stratification and management. The widespread adoption of preventative pharmacological measures is on the horizon and there are exciting advances in the role of immunotherapy and anti-cancer vaccines for treatment of these highly immunogenic LS-associated tumours. In this review, we explore the current landscape and future perspectives for the identification, risk stratification and optimised management of LS with a focus on the gastrointestinal system. We highlight the current guidelines on diagnosis, surveillance, prevention and treatment and link molecular disease mechanisms to clinical practice recommendations.
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Tea contains polyphenols such as flavonoids, anthocyanidins, flavanols and phenolic acids which in laboratory studies have reported to promote antioxidant enzyme formation, reduces excess inflammation, slow cancer cell proliferation and promote apoptosis. Evidence from epidemiological studies on the effect of tea consumption on prostate cancer (CaP) incidence has been conflicting. We analysed data from 25 097 men within the intervention arm of the 155 000 participant Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial. Histologically confirmed cases of prostate cancer were reported in 3088 men (12·3 %) during the median 11·5 year follow-up. Tea consumption was assessed with a FFQ. Baseline characteristics were compared between groups using χ2 and Kruskal-Wallis tests. Cox regression models were used to assess associations between tea intake and CaP incidence. There was no statistical difference between the risk of CaP between men who never drank tea to those who drank tea at any quantity. Amongst tea drinkers, those in the highest third of consumption group had a small but significantly lower risk compared with those in the lowest third (11·2 % v. 13·2 % hazard ratio 1·16; (95 % CI 1·05, 1·29), P = 0·004). This pattern persisted with adjustments for demographics and lifestyle. In conclusion, among tea drinkers, there was a small positive association between drinking tea and a reduced risk of prostate cancer. It does not support starting to drink tea, if men previously did not, to reduce the risk. Further research is needed to establish whether tea is justified for future prospective nutritional intervention studies investigating CaP prevention.
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Neoplasias Colorrectales , Neoplasias Ováricas , Neoplasias de la Próstata , Masculino , Femenino , Humanos , Próstata/patología , Té , Detección Precoz del Cáncer , Neoplasias de la Próstata/prevención & control , Polifenoles , Pulmón , Factores de RiesgoRESUMEN
PURPOSE: Idiopathic intracranial hypertension is a significant cause of preventable blindness. Patients suffer from debilitating headaches, pulsatile tinnitus, nausea, vomiting, photophobia and radicular pain. At this rate, treatment cost will increase to 462.7 million pounds sterling annually by 2030. Weight loss is the only proven disease-modifying therapy for reversal of idiopathic intracranial hypertension. Bariatric surgery leads to superlative weight loss and reversal of related comorbidities. The case series and literature review aim to raise awareness of bariatric surgery as a safe and effective treatment modality for idiopathic intracranial hypertension. MATERIAL AND METHODS: The literature review comprises three systematic analysis and one randomised control trial which were identified after a PubMed search. In the case series, we have included four patients with a preoperative diagnosis of long-standing idiopathic intracranial hypertension. They were referred to our department for bariatric surgery by the neuro-ophthalmologist between January and December 2018. They were followed up for 2 years after bariatric surgery. RESULTS: All four patients were women with a mean age of 34 years. Mean body mass index reduced from 47.3 kg/m2 before surgery to 30 kg/m2 at the end of 2 years after surgery. They showed significant improvement or resolution in their symptoms related to idiopathic intracranial hypertension, and none of them required further cerebrospinal fluid pressure reducing procedures. CONCLUSION: Bariatric surgery is a safe and effective method of treating idiopathic intracranial hypertension. It is superior compared to medical management and cerebrospinal fluid pressure reducing procedures which have high rates of recurrence.
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Cirugía Bariátrica , Obesidad Mórbida , Seudotumor Cerebral , Adulto , Índice de Masa Corporal , Femenino , Humanos , Obesidad Mórbida/cirugía , Seudotumor Cerebral/cirugía , Ensayos Clínicos Controlados Aleatorios como Asunto , Pérdida de PesoRESUMEN
OBJECTIVE: To identify factors associated with late cleft repair at a US tertiary children's hospital. DESIGN: Retrospective study of children with CL/P using Children's Hospital Los Angeles (CHLA) records. SETTING: US tertiary children's hospital. PATIENTS/PARTICIPANTS: Patients undergoing primary CL or CP repair at CHLA from 2009 to 2018. MAIN OUTCOME MEASURES: Proportion of children who had delayed primary CL repair or CP repair using CHLA and American Cleft Palate-Craniofacial Association (ACPA) guidelines and factors associated with late surgery. RESULTS: In total, 805 patients-503 (62.5%) who had CL repair, 302 (37.5%) CP repair-were included. Using CHLA protocol, 14.3% of patients seeking CL repair had delayed surgery. Delay was significantly associated with female gender, non-Hispanic ethnicity, Spanish primary language, government insurance, bilateral cleft, cleft lip and palate (CLP), and syndromic diagnosis. Using ACPA guidelines, 5.4% had delayed surgery. Female gender and syndromic diagnosis were significantly associated with delay and remained significant after adjustment for confounders in multivariate models. For CP repair, 60.3% of patients had delayed surgery using CHLA protocol. Cleft lip and palate diagnosis, complete cleft, syndromic diagnosis, and longer travel distance were significantly associated with delay. Using ACPA guidelines, 28.5% had delayed surgery; however, significant association with patient variables was not consistently observed. CONCLUSIONS: Delay in cleft surgery occurs most often for patients seeking CP repair and is associated with female gender, non-Hispanic ethnicity, Spanish language, government insurance, and bilateral CL, CLP, or syndromic diagnoses. Initiatives should aim to optimize cleft surgery delivery for these subpopulations.
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Labio Leporino , Fisura del Paladar , Niño , Labio Leporino/cirugía , Fisura del Paladar/cirugía , Femenino , Hospitales Pediátricos , Humanos , Estudios Retrospectivos , Centros de Atención TerciariaRESUMEN
BACKGROUND: Midface hypoplasia dramatically affects the normative facial cascade. Simultaneous Le Fort III and Le Fort I procedures (Le Fort III/I) provide a powerful tool for achieving significant midface advancement. This study presents the authors' approach for addressing midface hypoplasia in the setting of class III malocclusion using Le Fort III/I advancement. METHODS: This was an institutional review board-approved retrospective review of patients who underwent Le Fort III/I advancement at the authors' institution from 2009 to 2019. Demographic, surgical, and postoperative data were recorded. The authors' operative technique and surgical pearls are described. RESULTS: Twenty-five patients met inclusion criteria, 15 male patients (60 percent) and 10 female patients (40 percent). Patient age ranged from 14.9 to 21.6 years. Diagnoses included Crouzon syndrome, nonsyndromic developmental skeletal dysplasia, cleft lip/palate, Klippel-Feil syndrome, Apert syndrome, Van den Ende-Gupta syndrome, and Pfeiffer syndrome. Le Fort III advancements averaged 6.18 ± 1.38 mm and Le Fort I advancements averaged 6.70 ± 2.48 mm. Thirteen patients underwent simultaneous bilateral sagittal split osteotomy with average movement of 5.85 ± 1.21 mm. Average follow-up was 1.3 ± 1.0 years. One patient experienced intraoperative cerebrospinal fluid leak that resolved with expectant management. Three patients experienced major complications (12 percent) postoperatively necessitating repeated orthognathic operations. Ten patients experienced minor complications (40 percent). Average length of stay was 10 days, with all patients achieving improvement of their facial profile. CONCLUSIONS: The authors' experience reaffirms the relative safety of simultaneous Le Fort III/I advancement. This technique should be considered in select patients with global midface retrusion and class III malocclusion. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.
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Anomalías Craneofaciales/cirugía , Maloclusión/cirugía , Maxilar/cirugía , Osteotomía Le Fort/métodos , Complicaciones Posoperatorias/epidemiología , Adolescente , Tratamiento Conservador , Estudios de Factibilidad , Femenino , Humanos , Incidencia , Masculino , Osteotomía Le Fort/efectos adversos , Selección de Paciente , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/terapia , Estudios Retrospectivos , Resultado del Tratamiento , Adulto JovenRESUMEN
PURPOSE: An intracranial approach to the craniomaxillofacial skeleton can be effective for correcting complex craniofacial dystoses such as frontofacial hypoplasia, hypertelorism, and orbital dystopia. However, the significant morbidity resulting from the high complication rates has limited intracranial use. Given the need for intracranial approaches for certain clinical indications, the present study reevaluated intracranial frontofacial procedures to determine their safety and outcomes. PATIENTS AND METHODS: A retrospective review was performed of all frontofacial procedures completed between 2007 and 2017 at a single institution. Patients who had undergone monobloc distraction alone or with facial bipartition, facial bipartition alone, or box osteotomy were included in the intracranial cohort. Those who had undergone Le Fort III distraction, advancement, or a combination with Le Fort I were included in the subcranial cohort. The recorded data included demographics, previous craniofacial surgery, and operative events. The complications rates were compared between the 2 cohorts. RESULTS: The present study included 65 patients-35 subcranial and 30 intracranial. The rates of previous craniomaxillofacial (P = .193) and intracranial (P = .340) surgery were equivalent between the 2 cohorts. Of the 30 intracranial and 35 subcranial patients, 26.7% and 34.3% experienced complications (P = .218). The intracranial patients experienced more dural tears (53.3 vs 5.7%; P < .0001); however, no significant differences were observed in cerebrospinal fluid leakage. Reintubations (n = 3; 4.5%) occurred exclusively in the subcranial group. No significant differences in the major and minor complication rates were observed between the 2 cohorts. CONCLUSIONS: Intracranial and subcranial frontofacial procedures are associated with an equal risk of major and minor complications. Given the lack of an increase in risk, intracranial frontofacial procedures should be considered for the management of complex craniofacial dystoses.
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Disostosis Craneofacial , Osteogénesis por Distracción , Hueso Frontal/cirugía , Humanos , Maxilar , Osteotomía , Osteotomía Le Fort , Estudios RetrospectivosRESUMEN
BACKGROUND: Although combined monobloc facial bipartition with distraction (MFBD) may simultaneously correct multiple facial dimensions in patients with syndromic craniosynostoses, complication risks limit its use. This study reassesses MFBD complications and outcomes to compare safety and efficacy to monobloc distraction (MD) and facial bipartition (FB) alone. METHODS: A retrospective review of MFBD, MD, and FB cases for 10 years at a tertiary children's hospital was performed. Patient demographics and surgical variables were compared between cohorts. Distraction distance was compared between MFBD and MD. Correction of interdacryon distance in MFBD compared with FB was measured on preoperative and postoperative computed tomographic scans. SPSS 17 was used for data analysis. RESULTS: Twenty-two total patients, 11 MFBD, 4 MD, and 7 FB, met the inclusion criteria. Three MFBD (27.3%) patients experienced complications, including 1 osteomyelitis and 2 hardware displacements. One MD patient (25%) experienced a postoperative complication consisting of a wound infection. Three FB patients (42.9%) experienced either cerebrospinal fluid leak, seroma, mucocele, hardware exposure, and/or orbital dystopia (n = 1 each). Patients with MFBD had significantly longer intensive care unit stay (P ≤ 0.05), but no difference in hospital stay (P = 0.421). Mean distraction length was similar between MFBD and MD (P = 0.612). There was no significant difference in final (P = 0.243) or change (P = 0.189) in interdacryon distance between MFBD and FB patients. CONCLUSIONS: In our experience, MFBD has similar complication rates compared with MD and FB alone. Given equivalent safety and postoperative correction of facial dimensions, MFBD could be more widely considered for select patients.
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Disostosis Craneofacial , Craneosinostosis , Osteogénesis por Distracción , Niño , Cara , Huesos Faciales , Humanos , Estudios RetrospectivosRESUMEN
PURPOSE: Nail damage is common amongst patients receiving chemotherapy causing disfigurement and pain. This investigation evaluated whether a topical balm containing steam-extracted, bioactive polyphenolic-rich herbal oils blended with organic waxes could protect the nails via their reported anti-inflammatory, analgesic, anti-oxidant and anti-microbial properties. METHODS: 60 patients (23M, 37F) were randomised to apply (2-3/day) either the plant balm (PB) or a petroleum control (PC) to their nail beds. Demographics, type and number of chemotherapy cycles did not differ between the two groups, recruited between Sept 2015 and Sept 2016. An unpaired t test was used to test the differences in symptoms and physical nail damage between the two groups. RESULTS: Symptom scores recorded with the dermatology life quality questionnaire (DLQQ) were significantly better, between the start and end of chemotherapy, in the group applying the PB versus PC. Likewise, the mean fall in nail damage, scored with the Nail Psoriasis Index by the supervising physician, was also significantly different. CONCLUSION: The polyphenolic-rich essential oils and plant-based waxes in this nail bed balm profoundly reduced chemotherapy-related nail damage and improved nail-related quality of life, compared to a control. A further analysis is planned combining this balm with nail bed cooling.
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Antineoplásicos/efectos adversos , Onicólisis/etiología , Onicólisis/terapia , Aceites de Plantas/administración & dosificación , Polifenoles/administración & dosificación , Femenino , Humanos , Masculino , Onicólisis/diagnóstico , Aceites de Plantas/química , Polifenoles/química , Índice de Severidad de la Enfermedad , Resultado del Tratamiento , Reino UnidoRESUMEN
Pre-exposure prophylaxis (PrEP) remains an under-utilized HIV prevention tool among men who have sex with men (MSM). To more comprehensively elucidate barriers and facilitators to PrEP use among US MSM, we conducted a systematic review of peer-reviewed published articles and content analysis of online posts about PrEP. We searched peer-reviewed databases (Medline, Web of Science, Google Scholar) using MESH headings and keywords about PrEP and/or HIV prevention from 2005 to 2015. We included original studies among MSM in the US that reported on barriers, facilitators, or other factors related to PrEP use. We also searched online posts and associated comments (news articles, opinion pieces, blogs and other social media posts) in diverse venues (Facebook, Slate Outward, Huffington Post Gay Voices, Queerty, and My PrEP Experience blog) to identify posts about PrEP. We used content analysis to identify themes and compare potential differences between the peer-reviewed literature and online posts. We identified 25 peer-reviewed articles and 28 online posts meeting inclusion criteria. We identified 48 unique barriers and 46 facilitators to using PrEP. These 94 themes fit into six overarching categories: (1) access (n = 14), (2) attitudes/beliefs (n = 24), (3) attributes of PrEP (n = 13), (4) behaviors (n = 11), (5) sociodemographic characteristics (n = 8), and (6) social network (n = 6). In all categories, analysis of online posts resulted in identification of a greater number of unique themes. Thirty-eight themes were identified in the online posts that were not identified in the peer-reviewed literature. We identified barriers and facilitators to PrEP in online posts that were not identified in a systematic review of the peer-reviewed literature. By incorporating data both from a systematic review of peer-reviewed articles and from online posts, we have identified salient and novel information about barriers to and facilitators of PrEP use. Traditional research approaches may not comprehensively capture current factors important for designing and implementing PrEP related interventions.