PRDM16 co-operates with LHX2 to shape the human brain.

PRDM16 is a dynamic transcriptional regulator of various stem cell niches, including adipocytic, hematopoietic, cardiac progenitors, and neural stem cells. PRDM16 has been suggested to contribute to 1p36 deletion syndrome, one of the most prevalent subtelomeric microdeletion syndromes. We report a patient with a de novo nonsense mutation in the PRDM16 coding sequence, accompanied by lissencephaly and microcephaly features. Human stem cells were genetically modified to mimic this mutation, generating cortical organoids that exhibited altered cell cycle dynamics. RNA sequencing of cortical organoids at day 32 unveiled changes in cell adhesion and WNT-signaling pathways. ChIP-seq of PRDM16 identified binding sites in postmortem human fetal cortex, indicating the conservation of PRDM16 binding to developmental genes in mice and humans, potentially at enhancer sites. A shared motif between PRDM16 and LHX2 was identified and further examined through comparison with LHX2 ChIP-seq data from mice. These results suggested a collaborative partnership between PRDM16 and LHX2 in regulating a common set of genes and pathways in cortical radial glia cells, possibly via their synergistic involvement in cortical development.

Acute superior mesenteric artery syndrome complicated by severe gastric, pancreatic and renal ischaemia.

Superior mesenteric artery syndrome (SMAS) is a rare and potentially life-threatening cause of small bowel obstruction in which the superior mesenteric artery impinges on the third portion of the duodenum. SMAS is typically encountered in patients with low body fat and a history of rapid weight loss and is often diagnosed as a chronic or subacute condition. Here, we describe a case of a healthy adolescent boy without typical SMAS prodromal symptoms presenting with a severe, hyperacute proximal small bowel obstruction due to SMAS. Complications arising from massive gastric and duodenal distension, including gastric, pancreatic and renal ischaemia, necessitated emergent surgical intervention consisting of the duodenojejunostomy bypass with partial gastric resection. The patient recovered without significant lasting consequences.

Chromosome-level genome of the transformable northern wattle, Acacia crassicarpa.

The genus Acacia is a large group of woody legumes containing an enormous amount of morphological diversity in leaf shape. This diversity is at least in part the result of an innovation in leaf development where many Acacia species are capable of developing leaves of both bifacial and unifacial morphologies. While not unique in the plant kingdom, unifaciality is most commonly associated with monocots, and its developmental genetic mechanisms have yet to be explored beyond this group. In this study, we identify an accession of Acacia crassicarpa with high regeneration rates and isolate a clone for genome sequencing. We generate a chromosome-level assembly of this readily transformable clone, and using comparative analyses, confirm a whole-genome duplication unique to Caesalpinoid legumes. This resource will be important for future work examining genome evolution in legumes and the unique developmental genetic mechanisms underlying unifacial morphogenesis in Acacia.

PRDM16 co-operates with LHX2 to shape the human brain.

PRDM16 is a dynamic transcriptional regulator of various stem cell niches, including adipocytic, hematopoietic, cardiac progenitors, and neural stem cells. PRDM16 has been suggested to contribute to 1p36 deletion syndrome, one of the most prevalent subtelomeric microdeletion syndromes. We report a patient with a de novo nonsense mutation in the PRDM16 coding sequence, accompanied by lissencephaly and microcephaly features. Human stem cells were genetically modified to mimic this mutation, generating cortical organoids that exhibited altered cell cycle dynamics. RNA sequencing of cortical organoids at day 32 unveiled changes in cell adhesion and WNT-signaling pathways. ChIP-seq of PRDM16 identified binding sites in postmortem human fetal cortex, indicating the conservation of PRDM16 binding to developmental genes in mice and humans, potentially at enhancer sites. A shared motif between PRDM16 and LHX2 was identified and further examined through comparison with LHX2 ChIP-seq data from mice. These results suggested a collaborative partnership between PRDM16 and LHX2 in regulating a common set of genes and pathways in cortical radial glia cells, possibly via their synergistic involvement in cortical development.

Decoding Deep Learning applications for diagnosis and treatment planning.

INTRODUCTION: Artificial Intelligence (AI), Machine Learning and Deep Learning are playing an increasingly significant role in the medical field in the 21st century. These recent technologies are based on the concept of creating machines that have the potential to function as a human brain. It necessitates the gathering of large quantity of data to be processed. Once processed with AI machines, these data have the potential to streamline and improve the capabilities of the medical field in diagnosis and treatment planning, as well as in the prediction and recognition of diseases. These concepts are new to Orthodontics and are currently limited to image processing and pattern recognition. OBJECTIVE: This article exposes and describes the different methods by which orthodontics may benefit from a more widespread adoption of these technologies.

Surgical resection of a rare primary retroperitoneal mucinous borderline tumor of Müllerian Origin: A case report.

•Primary retroperitoneal mucinous tumors (PRMTs) are a rare group of cystic neoplasms consisting of three subtypes.•PRMTs are histologically similar to ovarian mucinous tumors but lack true ovarian tissue.•PRMTs should be considered in the differential diagnosis when encountering retroperitoneal cystic lesions.•During surgical resection tumor disruption should be avoided.•Surgical resection alone provides durable disease control for mucinous borderline tumors of low malignant potential.

Rare occurrence of pseudomyxoma peritonei (PMP) syndrome arising from a malignant transformed ovarian primary mature cystic teratoma treated by cytoreductive surgery and HIPEC: a case report.

BACKGROUND: Pseudomyxoma peritonei (PMP) syndrome is a disease process that typically occurs from ruptured appendiceal mucocele neoplasms. PMP syndrome arising from malignant transformation of an ovarian primary mature cystic teratoma (MCT) is a pathogenesis rarely encountered. CASE PRESENTATION: Herein, we report a 28-year-old patient evaluated and treated for a right ovarian mass and large volume symptomatic abdominopelvic mucinous ascites. Molecular profiling and genetic analysis revealed mutations in ATM, GNAS, and KRAS proteins while IHC demonstrated gastrointestinal-specific staining for CK20, CDX2, CK7, and SATB2. Peritoneal cytology showed paucicellular mucin. Diffuse peritoneal adenomucinosis (DPAM) variant of PMP arising from a ruptured ovarian primary MCT after malignant transformation to a low-grade appendiceal-like mucinous neoplasm was ultimately confirmed. Treatment included staged therapeutic tumor debulking and right salpingo-oophorectomy followed by cytoreductive surgery and hyperthermic intraperitoneal chemotherapy (HIPEC). CONCLUSIONS: Our report builds upon the existing literature supporting this aggressive treatment option reserved for advanced abdominal malignancies utilized in this patient with a rare clinical entity.

Interdisciplinary dental management of patient with oligodontia and maxillary hypoplasia: a case report.

BACKGROUND: The craniofacial developmental abnormality can significantly complicate the oral rehabilitation of patients with oligodontia. This case report describes an interdisciplinary approach that took 7 years to successfully treat a young patient with non-syndromic oligodontia and midface deficiency. CASE PRESENTATION: A 14-year-old patient with complex oral and maxillofacial conditions and diagnosis of oligodontia presented to our clinic. In addition to 4 retained deciduous teeth and congenitally missing 10 permanent teeth, dentofacial findings included maxillary and malar deficiency with a concave facial profile, Angle Class III malocclusion, and poor dental esthetics. The interdisciplinary treatment included pre-surgical orthodontic decompensation, high Le Fort I maxillary osteotomy, postsurgical orthodontic therapy, osseous ridge augmentation using recombinant human bone morphogenetic protein-2 (rhBMP-2), interim removable partial denture, dental implant installation, interim implant prostheses, and final prosthetic rehabilitation. CONCLUSIONS: The successful treatment of patients with oligodontia and complex dentofacial abnormalities requires the close and orderly collaboration among orthodontist, oral maxillofacial surgeon, and prosthodontist. Within the limitations of this case report, presented interdisciplinary approaches may optimize the oral rehabilitation outcome in patients with similar clinical challenges. A prospective clinical investigation is desired to verify the benefit of presented interdisciplinary approach.

An assessment of oncofertility content on reproductive endocrinology and infertility clinic websites.

PURPOSE: To assess oncofertility content on fertility clinic websites as indicated by eight relevant keywords. Additionally, we sought to describe the relationship between oncofertility content and five predetermined clinic characteristics. METHODS: We examined 381 fertility clinic websites that are members of the Society for Associated Reproductive Technology (SART). Extracted data included clinic location, practice type (private vs academic), size (cycles/year), type of NCI designated center (cancer center vs comprehensive cancer center), and distance from the nearest NCI center. Additionally, we documented whether the clinic was located in a state mandating reproductive and infertility services and/or included fertility preservation for "iatrogenic infertility" as reported by the American Society for Reproductive Medicine (ASRM). Data were summarized using descriptive statistics and compared using chi-squared or t-test as appropriate. RESULTS: Of the 381 fertility clinic websites analyzed, 322 (85%) contained at least one oncofertility-related keyword. Most frequently used terms included cancer (79%) and fertility preservation (78%), while less frequently used terms included suppression (9.4%) and shielding (5.0%). Practices that initiated ≥ 501 cycles per year were more likely to mention one of the oncofertility keywords (OR 1.2; 95% CI 1.1-1.3). The associations of oncofertility website content with practice type, state-mandated fertility insurance coverage, and distance from an NCI-designated cancer center were not statistically significant. Large clinic size was the only predictive factor for inclusion of oncofertility website content. Further studies are required to evaluate whether inclusion of oncofertility content on clinic websites impacts the use of these services by patients with cancer. CONCLUSION: This is the first study correlating availability of oncofertility content on SART fertility clinic websites with consideration of geographic proximity to NCI designated cancer centers. Large clinic size was the only predictive factor for inclusion of oncofertility website content.

Perceptions of and barriers to cancer screening by the sexual and gender minority community: a glimpse into the health care disparity.

PURPOSE: A disparity exists in cancer screening rates for the Sexual and Gender Minority (SGM) community. We sought to understand the perceptions and baseline knowledge of cancer screening among SGM community members. METHODS: Survey administered via social media from June 2018 to October 2018. We asked 31 questions focused on cancer screening, human papillomavirus, emotional distress, and experience with the health care system. Those included were 18 years or older. Cancer screening attitudes and knowledge, as well as perceptions of the health care system were investigated. RESULTS: There were 422 respondents analyzed: 24.6% identified as female, 25.5% as male, 40.1% transgender, and 9.6% as other. 65.4% of the SGM community is not certain what cancer screening to do for themselves. Only 27.3% and 55.7% knew that HPV was a risk factor associated with head and neck cancer and anal cancer, respectively. Half stated their emotional distress prevents them from getting cancer screening. It was identified that process changes in making appointments, comforts during the visit, and formal training for physicians and nurses could increase cancer screening compliance for this community. The transgender population had a trend in more gaps in knowledge of appropriate cancer screening and significant excess emotional distress. CONCLUSION: Gaps in cancer screening knowledge and emotional and financial distress may be responsible for the disparity of lower cancer screening rates for the SGM population and the transgender population may be most at risk. Appreciating the cancer screening concerns of the SGM population can help shape future clinical and institutional approaches to improve health care delivery.

Decoding Deep Learning applications for diagnosis and treatment planning

ABSTRACT Introduction: Artificial Intelligence (AI), Machine Learning and Deep Learning are playing an increasingly significant role in the medical field in the 21st century. These recent technologies are based on the concept of creating machines that have the potential to function as a human brain. It necessitates the gathering of large quantity of data to be processed. Once processed with AI machines, these data have the potential to streamline and improve the capabilities of the medical field in diagnosis and treatment planning, as well as in the prediction and recognition of diseases. These concepts are new to Orthodontics and are currently limited to image processing and pattern recognition. Objective: This article exposes and describes the different methods by which orthodontics may benefit from a more widespread adoption of these technologies.

RESUMO Introdução: Inteligência Artificial (AI, de Artificial Intelligence), Machine Learning (Aprendizado de máquinas) e Deep Learning (Aprendizado Profundo) possuem um papel significativo e crescente na área médica do século 21. Essas tecnologias recentes são baseadas no conceito de criar máquinas com potencial de funcionar como um cérebro humano. Isso demanda que uma grande quantidade de dados seja reunida para ser processada. Uma vez processados em máquinas com AI, esses dados têm o potencial de agilizar e potencializar as capacidades de diagnóstico e planejamento do tratamento nas áreas médicas, assim como no diagnóstico e prognóstico de doenças. Esses são conceitos novos na Ortodontia, que atualmente são subutilizados, limitando-se ao processamento de imagens e reconhecimento de padrões. Objetivo: O presente artigo expõe e descreve os diferentes métodos pelos quais os ortodontistas podem se beneficiar com o uso mais abrangente dessas tecnologias.

Clinical Characteristics and Histologic Features of Hysterectomy Specimens From Transmasculine Individuals.

OBJECTIVE: To describe the clinical characteristics of transmasculine individuals who underwent hysterectomy and characterize surgical pathology findings. METHODS: Under an institutional review board-approved protocol, transmasculine individuals who were undergoing hysterectomy and bilateral salpingectomy or bilateral salpingo-oophorectomy were retrospectively identified from a single institution. Past medical, surgical, obstetric, and gynecologic history were collected, including prior testosterone use, cervical cancer screening status, and preoperative pelvic imaging. Surgical pathologic findings of the endometrium, ovaries, and cervix were collected. RESULTS: A total of 72 individuals were included. The median age was 30 years (range 19-51). The majority of patients had private insurance (n=53, 74%) and were on testosterone at time of the preoperative visit (n=63, 88%). Forty-two patients (58%) reported anxiety, depression, or bipolar disorder, and 34 patients (47%) were taking an antidepressant or mood stabilizer. Of the 68 patients eligible for cervical cancer screening, 33 (49%) were up to date before their surgical consultation visits. Pelvic pain was the leading indication for surgery (n=65, 90%), and 29 patients (40%) had multiple listed indications for surgery. Surgical pathology results included cervical intraepithelial neoplasia 2-3 in three patients (4%), endometrial or cervical atrophy in 13 patients (18%), and ovarian or paratubal cysts in 16 patients (22%). CONCLUSION: This study describes the distinct clinical characteristics and surgical pathology findings that health care professionals should consider when caring for this unique patient population, including a relatively high rate of mental health conditions, pelvic pain as the leading indication for surgery, and the presence of endometrial or cervical atrophy and ovarian or paratubal cysts on surgical pathology.

Using the CDC Worksite Health ScoreCard to Promote Organizational Change.

PURPOSE: To measure the impact of tying adoption of evidence-based worksite health promotion (WHP) interventions to annual organizational strategic objectives, as measured by the Centers for Disease Control and Prevention (CDC) Worksite Health ScoreCard (ScoreCard). DESIGN: A prospective cohort study following Johns Hopkins Medicine (JHM) affiliates against industry-specific and large employer benchmarks from 2016-2020. SETTINGS: JHM, the largest private employer in Maryland with facilities in Florida and the District of Columbia. SUBJECTS: Twelve JHM affiliates representing over 40,000 employees. INTERVENTION: A strategic objective was established annually based on the ScoreCard and organizational priorities. MEASURES: JHM affiliates measured their WHP efforts annually using the ScoreCard. CDC industry-specific and large employer benchmarks were collected for comparison. ANALYSIS: ScoreCard data was assessed annually to measure deviations from CDC benchmarks, determine whether strategic objectives were met, and inform additional annual objectives. RESULTS: JHM demonstrated improvement from 8.9 percentage points above industry-specific and 3.4 percentage points below large employer benchmarks in 2016, to 26.4 percentage points above industry-specific and 21.8 percentage points above large employer benchmarks in 2020. CONCLUSION: Large employers face unique challenges in implementing WHP programs. Our study suggests embedding health promotion in annual strategic objectives may alleviate these challenges by prioritizing the goal and ensuring adequate resources to be successful. There are however, some limitations on using benchmarking data for comparison.