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Discusses the abstract of the study 'Satisfaction With and Outcome of Risk Reducing Surgeries Among a Series of BRCA Heterozygotes,' presented at the 21st Annual Education Conference of the National Society of Genetic Counselors held in Phoenix, Arizona in November 2002.

Trigonocephaly is a craniofacial malformation caused by premature fusion of the metopic suture. Surgical correction frequently results in the need for blood transfusion. Transfusion complications include transfusion-transmitted infections (TTIs), immune-mediated reactions, and volume overload. Donor exposure (DE) describes the number of blood products from unique donors with increasing DE equating to an increased risk of TTI. We evaluate data on 204 trigonocephaly patients covering 20 years of practice with respect to blood transfusions and DE. This represents the largest series from a single unit to date. A protocol based on our experiences has been devised that summarizes the key interventions we recommend to minimize blood transfusions and DE in craniofacial surgery. Patients operated on between 2000 and 2020 were included. DE and a range of values were calculated including estimated red cell loss (ERCL) and estimated red cell volume transfused (ERCVT). Groups were established by relevant interventions and compared using the Mann-Whitney U test. Mean DE fell from 1.46 at baseline to 0.85 ( P <0.05). Median allogenic transfusion volume fell from 350 mL at baseline to 250 mL ( P <0.05). Median ERCL fell from 15.05 mL/kg at baseline to 12.39 mL/kg and median ERCVT fell from 20.85 to 15.98 mL/kg. Changes in ERCL and ERCVT did not reach statistical significance. DE can be minimized with the introduction of key interventions such as a restrictive transfusion policy, preoperative iron, cell saver, tranexamic acid, and use of a matchstick burr for osteotomies., Competing Interests: The authors report no conflicts of interest., (Copyright © 2023 by Mutaz B. Habal, MD.)

Recent advances in artificial intelligence research have led to an increase in the development of algorithms for detecting malignancies from clinical and dermoscopic images of skin diseases. These methods are dependent on the collection of training and testing data. There are important considerations when acquiring skin images and data for translational artificial intelligence research. In this paper, we discuss the best practices and challenges for light photography image data collection, covering ethics, image acquisition, labeling, curation, and storage. The purpose of this work is to improve artificial intelligence for malignancy detection by supporting intentional data collection and collaboration between subject matter experts, such as dermatologists and data scientists., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)

Specialist registration in oral and maxillofacial surgery (OMFS) requires dual medical and dental qualification involving at least eight years of undergraduate study. Training has continued to evolve since dual qualification was introduced and has often resulted in unwarranted repetition. If a time-based curriculum is necessary, second degree trainees should be allowed to pursue research and audit, and gain relevant clinical experience in lieu of repeating previously covered material. Junior surgical training could be integrated into the second degree. A programme that records competencies during the second degree may demonstrate equivalent to other aspects of junior training. One barrier is timetabling, which often restricts the integration of second degree trainees with OMFS units. Junior training in OMFS could be streamlined if the content was agreed nationally. This would also offer the opportunity for those key institutions that implement these changes to take on a prominent role in OMFS training., (Copyright © 2020 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.)

The lingual nerve is at risk of damage during mandibular third molar (M3M) surgery. Current trends to avoid lingual retraction and prevent injury to the nerve run counter to the surgical principles of locating and protecting important structures. To our knowledge, the last review of this subject only considered repurposed lingual retractors such as the Howarth. Other studies have reported the use of purpose-built retractors with improved outcomes for lingual nerve injuries. This systematic review aims to assess the current view regarding lingual nerve retraction in M3M surgery. A search of PubMed and Web of Science using the key words "lingual", "nerve", "retractor", and "retraction" returned 118 results, 10 of which were selected for inclusion (nine original research papers and one systematic review). The data comprised 16,133 M3M extractions using no lingual retractor, repurposed, and purpose-built retractors. No lingual retraction showed a 0.60% risk of temporary and a 0.08% risk of permanent injury to the nerve. Repurposed retractors showed a 7.9% risk of temporary and 0.41% risk of permanent injury, and purpose-built retractors a 0.56% risk of temporary injury. No reported cases of permanent injury were associated with the use of purpose-built instruments. The evidence suggests that whilst the use of repurposed retractors increases the risk of injury to the nerve, there is no such risk with purpose-built retractors. Current data sets are confounded by the limitations of non-randomised, non-blinded studies, but trends show that lingual nerve retraction with purpose-built retractors may help to prevent permanent injury to the lingual nerve., (Copyright © 2020 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.)

We have chosen to test the safety of human intracerebroventricular (ICV) brain injections of autologous non-genetically-modified adipose-derived stromal vascular fraction (ADSVF). In this IRB-approved trial, 24 patients received ICV ADSVF via an implanted reservoir between 5/22/14 and 5/22/17. Seven others were injected via their ventriculo-peritoneal shunts. Ten patients had Alzheimer's disease (AD), 6 had amyotrophic lateral sclerosis (ALS), 6 had progressive multiple sclerosis (MS-P), 6 had Parkinson's "Plus" (PD+), 1 had spinal cord injury, 1 had traumatic brain injury, and 1 had stroke. Median age was 74 (range 41-83). Injections were planned every 2-3 months. Thirty-one patients had 113 injections. Patients received SVF injection volumes of 3.5-20 cc (median:4 cc) containing 4.05 × 10 5 to 6.2 × 10 7 cells/cc, which contained an average of 8% hematopoietic and 7.5% adipose stem cells. Follow-up ranged from 0 to 36 months (median: 9.2 months). MRIs post injection(s) were unchanged, except for one AD patient whose hippocampal volume increased from < 5th percentile to 48th percentile (NeuroQuant ® volumetric MRI). Of the 10 AD patients, 8 were stable or improved in tests of cognition. Two showed improvement in P-tau and ß-amyloid levels. Of the 6 MS-P patients all are stable or improved. Four of 6 ALS patients died of disease progression. Twelve of 111 injections (11%) led to 1-4 days of transient meningismus, and mild temperature elevation, which resolved with acetaminophen and/or dexamethasone. Two (1.8% of injections) required hospitalization for these symptoms. One patient (0.9% of injections) had his reservoir removed and later replaced for presumed infection. In this Phase 1 safety trial, ADSVF was safely injected into the human brain ventricular system in patients with no other treatment options. Secondary endpoints of clinical improvement or stability were particularly promising in the AD and MS-P groups. These results will be submitted for a Phase 2 FDA-approved trial.

As training in microvascular surgery often involves the use of live animals, it is important that such a practice is regularly revisited and justified, particularly in the context of emerging training strategies such as virtual simulation. This systematic review was therefore designed to assess the ongoing need for their use over other methods. A search of PubMed and MEDLINE using the major MeSH terms: anastomosis, surgical vascular procedures, microsurgery, and training, yielded 1386 titles from which 153 abstracts were read, 70 papers analysed, and 17 included. Nine of these papers were randomised studies that compared different methods of training. Other publications were included if the use of live animals was assessed or commented upon, or both (8 publications). Only one study randomised trainees to a non-living animal model or a living model, with detailed assessment that included clinical transfer to live surgery. It showed no significant difference in the quality of training, and excellent techniques of assessment. There was much discussion on the advantage of regular training and opportunities to practise without tuition, but there was no clear advantage for the use of live animals. Our review emphasises the lack of evidence regarding the need for live animals in the training of microsurgical or microvascular skills. Although the assumption remains that the use of live rats is essential, there is a clear need for a high-quality, comparative study to justify the continued use of such models given the quality of the alternatives now available., (Copyright © 2019. Published by Elsevier Ltd.)

Introduction: Transcatheter arterial chemoembolization (TACE) is a widely used form of therapy in advanced hepatocellular carcinoma. We report the first pathological data from an autopsy case of multiple cerebral emboli occurring during TACE., Methods: A Medline search for previous cases of cerebral embolism and TACE revealed 11 other cases., Findings: Multiple microscopic subacute infarcts were found in the cerebrum, midbrain, and cerebellum of our patient on autopsy, but no embolic material was seen. Embolic material was noted in dilated vessels throughout the fibrotic right diaphragm and in the upper lobe of the right lung. Combining the literature search with our patient, the mortality of cerebral embolism after TACE is 25% (n = 12). Intracardiac shunts were seen in 20% of the cases (n = 10). Hyperdense lesions were seen on head CT in 80% of the patients evaluated (n = 10). Chest imaging revealed infiltrate or consolidation in 60% of the cases (n = 5). Pulmonary emboli were reported in 100% of the cases (n = 8)., Conclusions: Cerebral embolism after TACE is devastating. Brain pathology supports embolization of ethiodized oil rather than DC beads as the mechanism of cerebral injury. Further pathological studies are needed to better understand the pathophysiology of this condition. Lung pathology confirmed the presence of embolic material in the distal lung, suggestive of a hepatopulmonary shunt undetectable by current modalities. Evaluation for such shunts with emerging modalities such as TCD with emboli detection may be an area of future research., (Copyright © 2012 National Stroke Association. Published by Elsevier Inc. All rights reserved.)

Resistance to Fas-mediated apoptosis (FMA) has been implicated in the pathogenesis of hematologic malignancies. Recently, a collaborative study showed that germline Fas mutations represent a genetic risk factor for the development of Hodgkin's and non-Hodgkin lymphoma. Here, we report that transformed B cell lines from familial lymphoma patients show a range of sensitivity to Fas-mediated apoptosis with lymphocytes from two patients with a marked resistance to Fas-, but not p53-mediated cell death. Fas resistance in these cells was associated with reduced recruitment of the initiator caspase 8 compared to cFlip, an inhibitor of apoptosis, to the death-inducing signaling complex (DISC). A decreased ratio of caspase 8 to cFlip in total cell extracts as well as in the DISC was associated with a profound disturbance of the Fas signaling cascade. We propose here that the relative reduction in caspase 8 to cFlip in the Fas DISC confers a survival advantage to lymphocytes and predisposes to the development of malignancy in some familial lymphoma patients.

Background: The 1100delC CHEK2 allele has been associated with a 1.4-4.7 fold increased risk for breast cancer in women carrying this mutation. While the frequency of 1100delC was 1.1-1.4% in healthy Finnish controls, the frequency of this allele in a North American control population and in North American breast cancer kindreds remains unclear., Methods: We genotyped 1665 healthy New York volunteers and 300 cases of breast cancer for the CHEK2*1100delC., Results: The overall frequency of the 1100delC was 3/300 (1.0%) among all cases with either a family history of breast cancer (n = 192) or a personal history of breast cancer (n = 108, of which 46 were bilateral, 46 unilateral, and 16 were male breast cancer cases), compared to a frequency of 5/1665 (0.3%) in healthy controls (p = 0.1). There was no difference in allele frequency among Ashkenazi and non-Ashkenazi controls., Conclusion: The relatively low breast cancer penetrance of this allele, along with the low population frequency, will limit the clinical applicability of germline testing for CHEK2*1100delC in North American kindreds.

Mutations in the BRCA1 and BRCA2 tumor suppressor genes are associated with an increased risk for breast and ovarian cancers as well as other types of malignancies. The observation of a germline BRCA1 mutation in an index case with a lymphoid neoplasm in the setting of a family history of breast cancer prompted us to explore the role of BRCA germline mutations as lymphoma susceptibility alleles. A panel of 286 DNA samples from Jewish lymphoma patients was analyzed for the three most frequent BRCA1 and BRCA2 germline mutations in those of Ashkenazi Jewish heritage, and compared to a cohort of 5010 DNA samples from healthy controls. Of the 286 cases, 2 patients carried a germline BRCA mutation; both were diagnosed at an early age with an intermediate grade non-Hodgkin's lymphoma. This data indicate that germline BRCA mutations are not associated with an increased risk for lymphoid malignancies.