New York Medical College

Objectives Sturge–Weber syndrome (SWS) is a rare neurocutaneous disorder that is characterized by a segmental dermatomal facial port-wine stain birthmark and is frequently accompanied by ipsilateral brain and eye abnormalities. We present a case of a patient with SWS who exhibited hypogonadotropic hypogonadism, growth hormone (GH) deficiency, and central hypothyroidism at the age of 20 despite the absence of radiographic findings in the pituitary and hypothalamus. Case presentation A 20-year-old male with SWS with epilepsy and Klippel–Trenaunay syndrome presents with delayed pubertal development, short stature, and obesity. Upon further examination, he was found to have biochemical and clinical evidence of hypogonadism, hypothyroidism, and GH deficiency. A pituitary MRI displayed no abnormalities of the pituitary or hypothalamus. Treatment with testosterone cypionate and levothyroxine was initiated. Despite successful pubertal induction, IGF-1 levels have remained low and treatment with recombinant human growth hormone (rhGH) is now being considered for metabolic benefits. Conclusions This case emphasizes the importance of endocrine evaluation and treatment of hormonal deficiencies in patients with SWS despite the absence of radiographic findings.

BACKGROUND Myasthenia gravis (MG) is an autoimmune disorder in which the postsynaptic acetylcholine receptor of the neuromuscular junction is destroyed by autoantibodies. The authors report a case of MG in a pediatric patient who also suffered from Lennox-Gastaut syndrome (LGS) and is one of a limited number of pediatric patients who have undergone placement of a responsive neurostimulation (RNS) device (NeuroPace). OBSERVATIONS A 17-year-old female underwent placement of an RNS device for drug-resistant epilepsy in the setting of LGS. Five months after device placement, the patient began experiencing intermittent slurred speech, fatigue, and muscle weakness. Initially, the symptoms were attributed to increased seizure activity and/or medication side effects. However, despite changing medications and RNS settings, no improvements occurred. Her antiacetylcholine receptor antibodies measured 62.50 nmol/L, consistent with a diagnosis of MG. The patient was then prescribed pyridostigmine and underwent a thymectomy, which alleviated most of her symptoms. LESSONS The authors share the cautionary tale of a case of MG in a pediatric patient who was treated with RNS for intractable epilepsy associated with LGS. Although slurred speech, fatigue, muscle weakness, and other symptoms might stem from increased seizure activity and/or medication side effects, they could also be due to MG development.

As an enzootic pathogen, the Lyme disease bacterium Borrelia burgdorferi possesses multiple copies of chemotaxis proteins, including two chemotaxis histidine kinases (CHK), CheA 1 and CheA 2 . Our previous study showed that CheA 2 is a genuine CHK that is required for chemotaxis; however, the role of CheA 1 remains mysterious. This report first compares the structural features that differentiate CheA 1 and CheA 2 and then provides evidence to show that CheA 1 is an atypical CHK that controls the virulence of B . burgdorferi through modulating the stability of RpoS, a key transcriptional regulator of the spirochete. First, microscopic analyses using green-fluorescence-protein (GFP) tags reveal that CheA 1 has a unique and dynamic cellular localization. Second, loss-of-function studies indicate that CheA 1 is not required for chemotaxis in vitro despite sharing a high sequence and structural similarity to its counterparts from other bacteria. Third, mouse infection studies using needle inoculations show that a deletion mutant of CheA 1 ( cheA 1 mut ) is able to establish systemic infection in immune-deficient mice but fails to do so in immune-competent mice albeit the mutant can survive at the inoculation site for up to 28 days. Tick and mouse infection studies further demonstrate that CheA 1 is dispensable for tick colonization and acquisition but essential for tick transmission. Lastly, mechanistic studies combining immunoblotting, protein turnover, mutagenesis, and RNA-seq analyses reveal that depletion of CheA 1 affects RpoS stability, leading to reduced expression of several RpoS-regulated virulence factors (i.e., OspC, BBK32, and DbpA), likely due to dysregulated clpX and lon protease expression. Bulk RNA-seq analysis of infected mouse skin tissues further show that cheA 1 mut fails to elicit mouse tnf-α , il-10 , il-1β , and ccl2 expression, four important cytokines for Lyme disease development and B . burgdorferi transmigration. Collectively, these results reveal a unique role and regulatory mechanism of CheA 1 in modulating virulence factor expression and add new insights into understanding the regulatory network of B . burgdorferi .

Radiation-induced rectovaginal fistula (RI-RVF) with associated rectal stricture represents a challenging problem in management. The aim of the present technical note is to describe a surgical technique aimed at minimizing disease recurrence by avoiding radiated tissue in the reconstruction: 1. Tuttle longitudinal incision of posterior vaginal wall with sharp excision of proximally located fistula; 2. Resection of strictured rectum via a combined transvaginal/laparotomy access, reconstruction with Turnbull-Cutait colon pull-through, and delayed handsewn coloanal anastomosis with loop ileostomy; 3. Bridge closure of the posterior vaginal wall by the interposition of a Singapore flap. This approach resulted in a favorable outcome at the 1-year follow-up in one patient with a medical history of gynecological carcinoma status after hystero-salpingo-oophorectomy followed by adjuvant radiation.

Diego Rivera, an acclaimed Mexican painter active during the first half of the twentieth century, painted multiple frescoes in Mexico and the United States. Some include depictions of bacteria, their interactions with human hosts, and processes related to microbiology and public health including the microbial origin of life, diagnosis of infection, vaccine production and immunization. Microbiological subjects in Rivera’s murals at the Mexican Ministry of Health in Mexico City; the Detroit Institute of Art, Detroit; Rockefeller Center, New York/Palacio de Bellas Artes, Mexico City; Chapultepec Park, Mexico City; and the Institute of Social Security, Mexico City, span almost 25 years, from 1929 to 1953. Illustrating the successes of the application of microbiological discoveries and methods to public health and the prevention and treatment of infectious diseases, they benefited from Rivera’s creativity in melding microbiology’s unique technological and scientific aspects and public health elements with industrial and political components.

As miR-137 is a regulator of aquaporin-2 (AQP2) expression and TNF inhibits the expression of several extrarenal aquaporins, we tested the hypothesis that TNF inhibits AQP2 in the kidney via a miR-137-dependent mechanism. AQP2 mRNA and protein expression decreased approximately 70% and 53%, respectively, in primary renal inner medullary collecting duct (IMCD) cells transfected with a miRNA mimic of mmu-miR-137, suggesting that miR-137 directly targets AQP2 mRNA in these cells. Exposure of IMCD cells for 2 h to 400 mosmol/kg H 2 O medium increased mmu-miR-137 mRNA expression about 2-fold, conditions that also increased TNF production approximately 4-fold. To determine if the increase in mmu-miR-137 mRNA expression was related to the concomitant increase in TNF, IMCD cells were transfected with a lentivirus construct to silence TNF. This construct decreased mmu-miR-137 mRNA expression by approximately 63% suggesting that TNF upregulates expression of miR-137. The levels of miR-137 also increased approximately 2-fold in IMCD tubules isolated from male mice given 1% NaCl in the drinking water for 3 days. Intrarenal lentivirus silencing of TNF increased AQP2 mRNA levels and protein expression concomitant with a decrease in miR-137 levels in tubules isolated from mice given NaCl. The changes in AQP2 expression levels affected the diluting ability of the kidney, which was assessed by measuring urine osmolality and urine volume, as the decrease in these parameters after renal silencing of TNF was prevented upon intrarenal administration of miR-137. The study reveals a new TNF function via a miR-137-dependent mechanism that regulates AQP2 regulation expression and function.

Right heart thrombi are a rare phenomenon associated with high mortality rates and embolization to the pulmonary bed. Diagnostic modalities include transthoracic echocardiography, contrast-enhanced echocardiography, and cardiac magnetic resonance imaging. Several treatment options for right ventricular thrombus have been described in case reports and observational studies including anticoagulation, thrombolysis, catheter-based procedures, and surgical embolectomy. Various studies have demonstrated that thrombolysis and surgical embolectomy have better survival outcomes than anticoagulation alone. Present management strategies are supported by observational studies, and further research is needed to guide therapy.

Background: Acute ischemic stroke (AIS) following left ventricular assist device (LVAD) implantation is a serious complication associated with device morbidity. AIS development following LVAD placement typically presents between 6- and 24-months post implantation. Case/Results: We report a case of a 67-year-old male who initially presented with reduced ejection fraction and severe coronary vessel disease. Following coronary artery bypass graft surgery, the patient remained in a low output state necessitating placement of an LVAD device. Approximately 4.5 hours following LVAD implantation, a severe acute decrease in mental status revealed new development of ischemic stroke of the basilar artery, which was successfully treated in one pass with catheter endovascular thrombectomy. Conclusion: While embolic stroke management in these cases remains difficult as patients are usually anticoagulated, our case demonstrates the utilization of endovascular thrombectomy as a viable therapeutic option in the setting of an uncommon occurrence of embolic stroke in the hours following LVAD implantation.

Cor triatriatum is a rare congenital cardiac anomaly, characterized by a fibromuscular partition dividing the left (cor triatriatum sinister) or, rarely, the right atrium (cor triatriatum dexter). Occurring in 0.1–0.4% of congenital heart disease cases, it exhibits diverse clinical presentations, often mimicking mitral stenosis and left-sided heart failure, while occasionally remaining asymptomatic into adulthood. The embryological origin of cor triatriatum remains controversial. Recent years have seen the emergence of new classification systems that offer enhanced prognostic insights. Transthoracic echocardiography is the diagnostic cornerstone. Surgical resection, preferably under cardiopulmonary bypass, is the mainstay treatment, and is associated with favorable long-term outcomes.

Background In the United States (US), many obstetrics & gynecology (OB-GYN) trainees feel unprepared to care for lesbian, gay, bisexual, transgender, queer, and intersex (LGBTQI) individuals, but interest in this topic is rising. Residency program websites are one way that directors can advertise whether this training is offered within their program. We aimed to describe the extent to which LGBTQI content is currently featured on OB-GYN residency websites across the country. Methods We identified all OB-GYN residency programs in the United States using a publicly available database. We systematically searched for select LGBTQI keywords on program websites. We collected data on mentions of LGBTQI didactics and rotations. We also searched whether LGTBQI keywords were included in diversity, equity, and inclusion (DEI) statements. We used multivariable logistic regression to compare the characteristics of programs that do and do not include this content. We used STATA SE Version 16.0 for all analyses and set the level of significance at 5%. Results We included 287/295 US OB-GYN residency programs in our analysis (97.3%) and excluded 8 that did not have websites. We identified any LGBTQI content on 50 program websites (17.4%), and specific mention of didactics or rotations on 8 websites (2.8%). On multivariable analysis, programs in the West were more likely to include any LGBTQI content compared to programs in the South (OR 2.81, 95%CI 1.04–7.63), as were programs with 1 or 2 fellowships (OR 3.41, 95%CI 1.43–8.14) or 3 or more fellowships (OR 4.85, 95%CI 2.03–11.57) compared to those without fellowships. Programs in departments led by female chairs were also more likely to include LBTQI content (OR 3.18, 95%CI 1.55–6.51). Conclusions Academic programs, West Coast programs, and those with departments led by female chairs are more likely to mention LGBTQI keywords on their websites. Given the increasing interest in LGBTQI education for OB-GYN trainees, program directors should consider providing training opportunities and including this content on their websites.

The elderly population is rapidly increasing around the world, and the number of the patients requiring an operation is outpacing and expanding. The role of minimally invasive surgery (MIS) has been growing in all surgical specialties. This new technology changes the surgical practices and enables the surgeon to perform complex procedures with small incisions and great outcomes for the patient. This trend continues and brings great benefit for surgeons and patients. The MIS techniques utilized for general surgery are not only for laparoscopic surgery, but also they expand to robotic surgery as well. We will discuss the innovations of MIS in various emergent general surgery settings for the elderly population.

Advances in systemic therapies have increased survival in patients with metastatic cancer. However, such prolonged survival has been associated with increased incidence of leptomeningeal disease (LMD), a late-stage manifestation of cancer to the leptomeninges that carries a dismal prognosis. Circumvention of the blood-brain-barrier to treat LMD can be accomplished with intraventricular therapy using an Ommaya reservoir. Our objective is to determine the indications, efficacy, and future directions of the Ommaya reservoir in LMD and CNS malignancies. A systematic review of the literature was conducted. Data extracted from articles included year of publication, study design, cancer types, and findings. The search query returned 5,338 articles, of which 94 were included. Most articles (45, 47.9%) were prospective cohort studies. Forty-one (43.6%) described retrospective chart reviews, and five (5.3%) described RCTs. Ommaya was studied as a vehicle for intrathecal chemotherapy administration (76, 80.9%), an access site for CSF sampling (12, 12.8%), or a device through which to study dosimetry and pharmacokinetics of various drugs (5, 5.3%). Most studies (50, 53.2%) explored the use of Ommaya in LMD, secondary to any cancer (62%), breast cancer (20%), lung cancer (6%), glioma (6%), lymphoma (4%), and melanoma (2%). Sixteen articles (17%) focused on the use of Ommaya in malignant glioma, 11 studies (11.7%) in CNS lymphoma, and three (3, 3.2%) evaluated the efficacy of intraventricular morphine for intractable cancer pain. Since 2011, 24 studies (64.9%) reported positive outcomes with Ommaya, and two (5.4%) did not. The literature indicates that the Ommaya is a safe and reliable option for treatment of certain malignancies and LMD. The benefit appears to be most marked in the era of multi-modality treatment for cancer, particularly breast. Most recently, and perhaps most promising, is utilization of Ommaya for CSF analysis, both in tracking therapeutic response and defining pharmacokinetics in patients with LMD.

Objectives This pilot study evaluated the feasibility of a live, interactive, synchronous, online, manualized intervention, Breath–Body–Mind Introductory Course (BBM-IC), for medical students. BBM-IC includes breathing, movement, and attention-focus techniques for stress management and better emotion regulation, energy, sleep, and mental focus. Methods Medical students attending a 2-h BBM demonstration were invited to participate in the 12-h BBM-IC and weekly 45-min 6-week group practice. Measures were obtained using Survey Monkey: patient health questionnaire (PHQ9), generalized anxiety disorder-7 (GAD-7), exercise-induced feeling inventory (EFI), sleep quality scale (SQS), and body perception questionnaire-short form (BPQ-SF) at pre-BBM-IC (T1), post-BBM-IC (T2), and 6 weeks post (T3). Perceived stress scale (PSS) and meditation practices questionnaire (MPQ) were measured at baseline (T1) only. Results Twelve medical students participated in BBM-IC 4-h daily for 3 days. Six attended practice sessions and completed 6-week post-tests. Mean scores comparison identified two variable sets with significant improvements: EFI tranquility ( p < .005) and supradiaphragmatic reactivity ( p < .040). Two measures reached near significance: SQS ( p ≤ .060) and PHQ9 ( p ≤ .078). Conclusion This pilot study provided preliminary evidence that BBM-IC may reduce stress and anxiety symptoms while improving mood, energy, mental focus, and other correlates of psychophysiological state in medical students. Taking time for self-care is challenging for medical students, as reflected in the small study enrollment. Designating time for BBM as a requirement within the medical curriculum would probably enable more students to participate and acquire skills to reduce the effects of stress on their physical and psychological health, as well as the health of their patients.

Aims The association of atrial fibrillation (AF) with heart failure (HF) specific hospitalizations after acute myocardial infarction (AMI) is unclear. We aim to study the association of AF and 6-month HF hospitalization after an AMI in a large American cohort. Methods and Results Adult survivors of a AMI hospitalization without cardiogenic shock were identified from the 2019 US Nationwide Readmissions Database. The unadjusted association of AF (pre-existing and denovo) with baseline characteristics and primary outcome of rate of 6-month HF admission, and secondary outcomes of fatal HF admission, composite of HF peri-AMI or a 6-month HF admission, and a composite of 6-month HF or death during a non−HF-related admission was evaluated using chi square tests or t-tests, and independent associations of AF on outcomes were evaluated using multivariable logistic regression. Cox proportional hazards models were used to identify the association of AF on cumulative incidence risk on HF readmission. Of 262,390 AMI survivors, AF was present in 18.0%. By 6-months, HF hospitalization occurred in 5.4% of all patients. AF was associated with a higher adjusted risk for 6-month HF admission (OR 1.42, 95% CI: 1.34-1.50). In the adjusted time-to-event analysis, AF was associated with a higher risk for 6-month HF readmission (HR 1.39, 95% CI 1.31-1.46, P<0.001). AF was associated with a higher risk for fatal HF and the composite outcomes. Conclusions AF was present in 1 in 6 AMI survivors without cardiogenic shock and AF was associated with a higher risk of HF hospitalization in the subsequent 6-month period.Cumulative Incidence CurvesOutcomes Table