Jaffe-Campanacci syndrome resulted in amputation: A case report.

BACKGROUND: Jaffe-Campanacci syndrome (JCS) is a very rare syndrome. The treatment of JCS is more conservative, and most authors recommend that no surgery should be done in asymptomatic patients. The conventional concept holds that the natural course of non-ossifying fibromas (NOFs) grows with the development of bones, and the osteolytic region gradually stops expanding and self-healing through bone ossifying around the lesion and ossification within the lesion. But in this case, the bone lesions were potentially biologically aggressive, which led to severe limb deformities and pain. CASE SUMMARY: We present the case of a 5-year-old girl with JCS presenting with not only NOF sand café-au-lait macules, but also showed features not mentioned before, severe limb pain, and at last resulted in amputation. She was admitted to our hospital after presenting with claudication and mild pain over her right thigh, which worsened when stretching or being touched. Skin examination revealed multiple café-au-lait macules on the neck, arm, axilla, and torso, including the nipples and perineum. Radiographs revealed multiple lytic lesions in the proximal part of the right humerus, distal part of the right clavicle, proximal and distal parts of the right femur, and proximal parts of the right tibia and fibula. Curettage and biopsy were performed on the distal part of the right femur. At the age of 7, the girl was re-admitted to our hospital for a pathological fracture in the middle in the right femur and underwent Intralesional excision, internal fixation, bone grafting, and spica casting. At the age of 10, the girl came to our hospital again for severe pain of the right leg. Amputation from the middle level of the right femur was performed. We present the case of a 5-year-old girl with JCS presenting with not only NOFs and café-au-lait macules, but also showed features not mentioned before, severe limb pain, and at last resulted in amputation. She was admitted to our hospital after presenting with claudication and mild pain over her right thigh, which worsened when stretching or being touched. Skin examination revealed multiple café-au-lait macules on the neck, arm, armpit, and torso, including the nipples and perineum. Radiographs revealed multiple lytic lesions in the proximal part of the right humerus, distal part of the right clavicle, proximal and distal parts of the right femur, and proximal parts of the right tibia and fibula. Curettage and biopsy were performed on the distal part of the right femur. At the age of 7, the girl was re-admitted to our hospital for a pathological fracture in the middle in the right femur and underwent Intralesional excision, internal fixation, bone grafting, and spica casting. At the age of 10, the girl came to our hospital again for severe pain of the right leg. Amputation from the middle level of the right femur was performed. CONCLUSION: In our opinion, education on preventing pathological fractures and explaining the consequent serious consequences to the parents is a matter of prime significance. At the same time, prophylactic treatment (restricted exercise, support, or surgery) is also considerable for JSC.

Unraveling the intrinsic mechanism behind the retention of arsenic in the co-gasification of coal and sewage sludge: Focus on the role of Ca and Fe compounds.

Minimizing the emission of arsenic (As) is one of the urgent problems during co-gasification of Shenmu coal (SM) and sewage sludge (SS). The intrinsic mechanism of As retention was obtained by analyzing the effect of different SM addition ratios on the As form transformation during co-gasification at 1000 °C under CO2 atmosphere. The results showed that the addition of SM effectively promoted the enrichment of As in the co-gasified residues. Especially, the best As retention rate of 65.71% was achieved with the 70 wt% addition ratio of SM. The addition of SM promoted the adsorption and chemical oxidation of As(III) to the less toxic As(V) through the coupling of Ca and Fe compounds in the co-gasified residues. XRD and XPS results indicated that Fe2O3 adsorbed As2O3(g) after partial conversion to Fe3O4 by the Boudouard reaction, while part of As2O3 was oxidized to As2O5 by lattice oxygen. Finally, the generated As2O5 was successively trapped by CaO and Fe2O3 to form stable Ca3(AsO4)2 and FeAsO4. HRTEM and TEM analysis comprehensively proved that As(III) was stabilized by the lattice cage of CaAl2Si2O8. In conclusion, the co-oxidation of Ca and Fe compounds and lattice stabilization simultaneously played a crucial role in the retention of As2O3(g) during co-gasification.

[Neurofibromatosis type 2 in the otorhinolaryngological practice]. / Neirofibromatoz 2-go tipa v praktike vracha-otorinolaringologa.

Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disease (frequency 1 in 25-90 000) characterized by the formation of tumors of the central nervous system due to a mutation in the NF2 gene on chromosome 22q12. Bilateral vestibular schwannomas are recognized as absolute diagnostic criteria of NF2 and occur in 95% of patients, are accompanied by hearing impairment, manifest at the age of 18-24 years. Skin manifestations can precede vestibular schwannomas for several years and predict the course of the disease: neurofibromas, cafe-au-lait macules, hypopigmented spots, recently described mesh capillary malformations. Despite the benign nature of schwannomas, they can lead to hearing loss, vestibular dysfunction, facial nerve paralysis, gait disorders, pain and convulsions, there is a risk of early death from compression of the brain stem. The probability of progressive hearing loss is partly determined by the type of mutation. We described a clinical case of NF2 in a 21-year-old patient with bilateral vestibular schwannomas without hearing loss, whose skin examination by ENT specialist revealed this disease. The importance of the presented observation is that the doctor should assume neurofibromatosis type 2 in a young patient with bilateral vestibular schwannomas. It is necessary to undertake a further examination of this patient, including: skin examination for the identification of characteristic neurofibromas and cafe-au-lait macules, consultation with an ophthalmologist, neurologist, MRI of the brain and spinal cord with contrast, genetic analysis - for timely initiation of therapy that prevents hearing loss and vestibular disorders.

Development of high performance microwave absorption modified epoxy coatings based on nano-ferrites.

With the rapid spread of wireless technologies and increasing electromagnetic energy, electromagnetic waves (EMW) have become a severe threat to human health. Therefore, minimizing the harmful effects of electromagnetic wave radiation is possible through the development of high-efficiency EMW absorption coatings. The aim of this work was to generate microwave absorbance coatings containing synthesized nano-CuFe2O4 and nano-CaFe2O4. Firstly, nano-CuFe2O4 and nano-CaFe2O4 were synthesized using the sol-gel method. Then, their structure, electrical, dielectric, and magnetic properties were investigated to find out the possibility of using these materials in high-frequency applications (e.g., microwave absorbance coatings). After that, two dosages (2.5 wt% and 5 wt%) of nano-CuFe2O4 and nano-CaFe2O4 were incorporated into epoxy resin to prepare modified epoxy resin as microwave coatings. The dielectric studies show that the AC conductivity of the prepared samples is high at high frequencies. Additionally, the magnetic properties reveal a low coercivity value, making these samples suitable for high-frequency devices. The microwave results illustrate that adding nano-ferrites with high content enhances the absorption characteristics of the tested films. The results showed that the two films have two absorption bands with RL < -10 dB ranging from 10.61 to 10.97 GHz and from 10.25 to 11.2 GHz. The minimum return loss achieved for the two cases is -13 and -16 dB, respectively. Indicating that the film coated with CuFe has a better absorption value than the one coated with CaFe.

Epidemiology and Outcomes of Neurofibromatosis Type 1 (NF-1): Multicenter Tertiary Experience.

Purpose: The aim of this manuscript was to assess the epidemiology and clinical features of Neurofibromatosis type 1 (NF-1) based on the newly published revised NF-1 diagnostic criteria and to evaluate complications of NF-1 including neurodevelopmental disorders. Patients and methods: A retrospective cross-sectional observational study was conducted in the Ministry of National Guard Health Affairs (MNGHA) healthcare organization branches including four tertiary hospitals and 51 primary health care centers in different regions in Saudi Arabia. This study included all patients diagnosed with NF1 using the revised NIH diagnostic criteria published in 2021 that were registered at the electronic medical records (EMR) from 2015 to 2021. Results: A total of 184 patients fulfilled the diagnostic criteria and were included in this study. The median age at diagnosis was 11 years (IQR: 4.00-20.25). The most encountered diagnostic criteria in this study were Café-au-lait macules (85.3%), and (42.9%) were found to have two or more neurofibromas with plexiform neurofibroma being the most common subtype (23.36%), approximately (36.4%) of the patient with optic pathway glioma. Nearby (26.6%) of the patients displayed different type of tumors. Iris Lisch nodules were presented in 36.4% of patients at a median age of 12 years (IQR: 9.0-21.8). Cardiovascular abnormality was encountered in 9.8% of the patients. Around 27.7% of the patients reported headache and 11.4% of the patient suffered from different type of epilepsy. Besides, 10.5% of the patients had intellectual disability, 33.8% suffered from communication disorders, and 4.9% patients had ADHD. Conclusion: The results of this study will enable practitioners to adopt a more holistic approach and prioritize numerous attributes, which they can subsequently incorporate into their therapeutic methodologies. Furthermore, the identification of these attributes will facilitate an expeditious and accurate diagnosis. Hence, the implementation of intervention during its nascent phase may result in a more advantageous consequence.

Lambdoid Suture Defect in a 12-year-old Neurofibromatosis Patient.

Neurofibromatosis type 1 (NF-1) is the most common neurocutaneous syndrome. It is inherited in an autosomal dominant manner, with many patients having the syndrome as the result of a de novo mutation. NF-1 is caused by a mutation in the NF-1 gene located on the chromosome 17q11.2. NF-1 gene mutations result in the absence or reduced function of neurofibromin protein, thereby promoting tumor development and other clinical findings. NF-1 is fully penetrant, and it is commonly manifested by café-au-lait macules, axillary and/or inguinal freckling, neurofibromas, and Lisch nodules in the eyes. Skeletal manifestations include scoliosis, short stature, long bone dysplasia, and pseudoarthrosis. Rarely, NF-1 can manifest lambdoid suture defects. This report describes the case of a 12-year-old neurofibromatosis patient who presented to the pediatric clinic with a palpable posterior scalp defect, as well as café-au-lait macules and Lisch nodules. Diagnosis of NF-1 was made clinically. MRI and CT scan were done, and the patient was diagnosed with a lambdoid suture defect that is not associated with plexiform neurofibroma. Moreover, whole exome sequence (WES) was done, and diagnosis of NF-1 was confirmed. Watchful waiting and continuous monitoring were the management of choice for this case.

The 730 nm picosecond titanium sapphire laser for treatment of café-au-lait macules in all skin types.

OBJECTIVES: Café-au-lait macules (CALM) are benign birthmarks presenting as uniformly pigmented, well demarcated, brown patches that can be distressing to patients, especially when located in cosmetically sensitive areas. As with all pigmentary lesions in skin of color patients, CALMs have been particularly challenging to treat. Here we present the first case series characterizing treatment parameters and clinical outcomes utilizing the 730-nm picosecond titanium sapphire laser for the treatment of CALMs. This device provides an additional safe and effective treatment option for these challenging cases. METHODS: We performed a retrospective review of patients treated at a single institution between April 2021 and December 2023. Clinical photographs were graded by 3 outside board-certified dermatologists using a 5-point visual analog scale. RESULTS: Fourteen patients (age range: 10 months-66 years, mean age: 27.4 years, Fitzpatrick skin types II-VI) were treated for CALM on the face (11) or body (3). On average, patients received 4.3 treatments, with treatment intervals ranging from 4 to 40 weeks. Treatment remains ongoing with the 730-nm picosecond laser for eight patients. Overall, patients were rated to have a mean improvement of 26%-50%. Two patients (FST III and VI) achieved 100% clearance after 4-5 treatment sessions. Our study included four patients whose CALM were of the smooth bordered "coast of California" subtype, three of whom had a mean improvement rating of only 1%-25%. The fourth patient had near complete resolution. Follow up for these patients has ranged from 6 weeks to 1.5 years. Of the patients treated, one patient experienced transient post-inflammatory hyperpigmentation and another transient post-inflammatory hypopigmentation, while a third patient experienced mild persistent guttate hypopigmentation. Three patients experienced partial recurrence indicating that maintenance treatments may be needed in some patients. CONCLUSION: The 730-nm picosecond titanium sapphire laser is a safe and efficacious treatment option, in the right morphologic setting, to improve the cosmetic appearance of CALMs in a wide range of ages and skin types. To our knowledge, this is the first reported treatment of CALMs with picosecond lasers in FST V and VI patients. Our study also supports prior studies which have found that CALM with smooth-bordered "coast of California" morphology have a poor response to laser therapy as compared to those with jagged or ill-defined bordered "coast of Maine" morphology.

Acute Ischemic Stroke in an Infant With COVID-19 Infection and Delayed Diagnosis of Neurofibromatosis Type 1.

Acute ischemic stroke is an uncommon presentation in the pediatric population as compared to the elderly population. COVID-19 infection is associated with several neurological manifestations, with ischemic strokes being underrecognized. Cerebrovascular events associated with COVID-19 may be due to systemic inflammation and hypercoagulable state. Neurofibromatosis type 1 (NF1) is an inherited multisystem disorder caused by dominant loss-of-function mutations of the tumor-suppressor gene neurofibromin 1, which is located at 17q11.2.1. NF1 is associated with multiple cerebrovascular abnormalities, including internal carotid artery occlusion. A review of the current literature on manifestations of COVID-19 in the pediatric population, including stroke and seizures, is also provided in this case report. A brief review of the literature on neurofibromatosis and the risk of stroke as well as other clinical manifestations is also included as a part of this case report. This case illustrates the importance of recognizing acute and rare complications of neurofibromatosis. Cerebral vasculopathy is an important but underrecognized complication of NF1. Children with neurofibromatosis and hypertension require a thorough and complete neurologic evaluation. This case describes a young infant with a delayed clinical diagnosis of NF1 who was presented with viral manifestations of COVID-19 infection and was diagnosed with a large middle cerebral artery stroke.

Perspectives on menstrual policymaking and community-based actions in Catalonia (Spain): a qualitative study.

BACKGROUND: Menstrual research and policymaking have become imperative worldwide. It is necessary that these are informed by women and people who menstruate (PWM) alongside expert professionals and activists. METHODS: The main aim of this study was to identify and propose policies and community-based actions to address menstrual inequity and promote menstrual health in Catalonia (Spain). This study consisted of two qualitative studies: (a) 34 individual photoelicitation interviews with women and PWM, (b) a World Café study with 22 professionals and activists. Sampling for both studies was purposive and selective. Recruitment was conducted through healthcare centres, social media, key contacts, and snowball sampling techniques. Data were collected in December 2020-September 2022, and analysed using Framework Analysis. RESULTS: Participants considered the implementation of menstrual policies that address the taboo and stigma of menstruation to be crucial. They stressed the need for menstrual education, which should be integrated into formal education curricula. Participants, and especially women and PWM, highlighted the need to improve the access and quality of healthcare services, so that the menstrual cycle and menstruation are seen as health indicators. Health professionals should encourage agentic informed decisions, hence why both participant groups considered menstrual health education amongst health professionals to be pivotal. Taking action to improve the access and affordability of menstrual products was also imperative for participants, especially for socioeconomically vulnerable populations. Participants agreed on guaranteeing fully equipped menstrual management facilities, and and professionals discussed gender-neutral and sex-segregated bathrooms. Workplace menstrual policies to accommodate and ensure menstrual self-care were also suggested. CONCLUSIONS: Our study highlights the need for multi-dimensional menstrual policies. These should include actions to address menstrual taboo and stigma, to promote menstrual education that goes beyond the hegemonic biomedical prism, to improve the access and quality of menstrual health services, along with policies ensuring adequate menstrual management facilities in public spaces and the access to menstrual products. Policymaking should also focus on how to ensure menstrual management and care in workplaces. Menstrual policies and community-based actions should be framed within intersectionality, to consider how societal structures of power and oppression influence menstrual experiences.

RESUMEN: INTRODUCCIóN: Siendo la investigación y la implementación de políticas menstruales imprescindibles, es necesario que estos procesos estén informados por mujeres y personas que menstrúan (PM), así como por profesionales expertas y activistas. MéTODOS: El objetivo principal de este estudio fue identificar y proponer políticas y acciones comunitarias para abordar la inequidad menstrual y promover la salud menstrual en Cataluña (España). Este estudio consistió en dos estudios cualitativos: (a) 34 entrevistas individuales de fotoelicitación con mujeres y PM, (b) un World Café con 22 profesionales y activistas. El muestreo para ambos estudios fue intencional y selectivo. El reclutamiento se realizó a través de centros de salud, redes sociales, contactos clave y técnicas de bola de nieve. Los datos se recogieron entre diciembre de 2020 y septiembre de 2022 y se analizaron mediante Framework Analysis. RESULTADOS: Las participantes consideraron crucial la implementación de políticas menstruales para abordar el tabú y el estigma menstrual. Destacaron la necesidad de una educación menstrual, que debería integrarse en los currículums escolares. Las participantes, y especialmente las mujeres y PM, resaltaron la necesidad de mejorar el acceso y la calidad de los servicios de salud, de manera que el ciclo menstrual y la menstruación sean consideradas indicadores de salud. Mencionaron que el personal sanitario debe fomentar las decisiones informadas, de ahí que ambos grupos de participantes consideraran fundamental la educación sobre la salud menstrual entre los profesionales de la salud. También, para las participantes fue imperativo asegurar el acceso y asequibilidad de productos menstruales, especialmente para las poblaciones socioeconómicamente vulnerabilizadas. Las participantes estuvieron de acuerdo en la necesidad de garantizar espacios equipadas para el manejo menstrual, y se llevaron a cabo debates entre las profesionales sobre los baños inclusivos y segregados por sexo. También se sugirieron y debatieron políticas menstruales en entornos laborales, para adaptar y garantizar el autocuidado menstrual. CONCLUSIONES: Nuestro estudio destaca la necesidad de políticas menstruales multidimensionales. Estas deberían incluir acciones para abordar el tabú y el estigma menstrual, promover una educación menstrual que vaya más allá de la perspectiva biomédica hegemónica, mejorar el acceso y la calidad de los servicios de salud menstrual, junto con políticas para garantizar la disponibilidad de instalaciones adecuadas para el manejo menstrual en espacios públicos, así como el acceso a productos menstruales. La creación de políticas también debería centrarse en cómo garantizar el manejo y los cuidados menstruales en entornos laborales. Finalmente, estas políticas menstruales y acciones comunitarias deben enmarcarse desde la interseccionalidad, para considerar cómo las estructuras y poderes sociales operan e influyen en las experiencias menstruales.

[McCune-Albright syndrome: a case report and literature review]. / Syndrome de McCune-Albright : à propos d'un cas et revue de la littérature.

McCune-Albright syndrome is an inherited disease characterized by the association of fibrous dystrophy of bone, café-au-lait skin spots and precocious puberty revealing endocrine hyperactivity. Genetically, this disease is due to a mutation of the Gs protein responsible for activation of adenylate cyclase with excessive production of cAMP. The particular morphology of café-au-lait spots should suggest early diagnosis. Its treatment depends on the endocrinopathy from which the patient suffers and the extent of the fibrous dysplasia. Bisphosphonates have proven their effectiveness on bone pain and the limitation of fibrous dysplasia. Surgery retains its place in complicated forms. We report a rare case of McCune-Albright syndrome complicated by a femur fracture in a 12-year-old girl and we discuss the clinical and paraclinical characteristics of this pathological entity.

Legius Syndrome and Inflammatory Bowel Disease: A Pediatric Case Report.

Legius syndrome (LS) is a rare and underrecognized disorder that is often misdiagnosed as neurofibromatosis type 1 (NF1). It is characterized by café-au-lait macules without the tumoral manifestations of NF1. We report the case of an 11-year-old patient with multiple café-au-lait macules and intertriginous freckling who was admitted for bloody stools, joint pain, and weight loss. His clinical and endoscopic findings were consistent with inflammatory bowel disease (IBD). He also met the clinical diagnostic criteria for NF1 but not for LS. Genetic testing played a pivotal role in the differential diagnosis and revealed a loss-of-function mutation in the SPRED1 gene, confirming the diagnosis of LS. This is the first reported case of a patient with IBD and LS. The subtle manifestations of LS make it an underdiagnosed disease, which reduces the likelihood of it being diagnosed in association with other diseases, such as IBD. There are, however, 10 published case reports linking IBD and NF1, and some pathophysiological mechanisms have been proposed. Continued reporting will help clarify the relationship between IBD and RASopathies such as NF1 and LS.

Impact of a Resident-Driven Research Club on Scholarly Activity in an Academic Internal Medicine Residency Program During the COVID-19 Pandemic.

OBJECTIVES: Traditional journal clubs have been shown to be insufficient in improving residents' scholarly productivity, often due to the inability to sustain residents' interest and participation. Additionally, the 2019 novel coronavirus (COVID-19) pandemic restrictions caused a decline in academic scholarly productivity across residency programs. We evaluated the impact of a resident-led research club called 'journal café' on residents' scholarly productivity by comparing scholarly output between the journal café members and non-members during the COVID-19 pandemic. METHODS: The journal café was established in the 2012/2013 academic year by internal medicine residents of a university residency program in Atlanta, Georgia, to foster self-directed collaboration among residents based on shared interests in academic research. The journal café runs independently of the residency program's journal club. We categorized IM residents at our institution into journal café members and non-members and collected data on their research productivity during residency training and the COVID-19 pandemic. The survey was conducted between April and June 2021 and analyzed data presented using frequencies, tables, and appropriate charts. RESULTS: Sixty-eight residents (29 journal café members and 39 non-members) completed the survey (response rate of 85%). A significantly higher number of journal café members reported having five or more research publications (55.1% vs 7.1%, P < .001) and scientific presentations (48.3% vs 2.6%, P < .001) compared with non-members. Additionally, more journal café members published COVID-19-related research in peer-reviewed journals compared with non-members (68% vs 32%, n = 19). Finally, most of the residents cited the opportunity of a platform to share and brainstorm on research ideas as the reason for joining the journal café. CONCLUSION: We found an association between journal café participation and increased scholarly activity, particularly during the COVID-19 pandemic. Independent resident-led research clubs supported by the residency program may complement the traditional journal clubs and enhance residents' participation in research.

A Rare Case of Hao-Fountain Syndrome Mimicking Fragile X Syndrome.

Hao-Fountain syndrome (HAFOUS) is a rare neurodevelopmental disorder caused by mutations in the ubiquitin-specific protease 7 (USP7) gene for endosomal recycling. The diagnosis is often challenging due to the nonspecific presentation of intellectual disability and developmental delay, often accompanied by dysmorphic facies. In this case, we present an 18-year-old female with intellectual disability (ID), attention-deficit/hyperactivity disorder (ADHD), and dysmorphic facies who had undergone single nucleotide polymorphism (SNP) microarray and fragile X polymerase chain reaction (PCR) testing five years prior to diagnosis, both returning with negative results for genetic anomalies. The patient was managed symptomatically for ADHD until recently when the topic of a possible genetic condition was reintroduced to the family, who were agreeable to a referral to a medical geneticist and repeat genetic testing. Repeat testing, but now with whole-exome sequence (WES) analysis, revealed a pathogenic variant of the USP7 gene, prompting the diagnosis of Hao-Fountain syndrome. Our patient continues to be symptomatically managed for ADHD and intellectual disability. Educational resources and support group information were also shared and discussed with the patient and her family in the wake of this rare diagnosis.

Promoting 'testicular awareness': Co-design of an inclusive campaign using the World Café Methodology.

INTRODUCTION: Testicular cancer is the most common cancer in men aged 15-44 years in many countries. Most men with testicular cancer present with a lump. Testicular symptoms are more likely to occur secondary to benign diseases like epididymo-orchitis, a common sexually transmitted infection. Gender and sexual minorities are at an increased risk of testicular diseases and health disparities. The aim of this study was to co-design an inclusive community-based campaign to promote testicular awareness. METHODS: This study uses the World Café methodology. Participation was sought from Lesbian, Gay, Bisexual, Transgender and Queer+ friendly organisations, testicular cancer survivors, health policy makers, media and marketing experts and graphic designers. Participants engaged in three rounds of conversations to co-design the campaign. Data were collected using drawing sheets, artefact cards, sticky notes, coloured markers and a voice recorder. Deductive thematic analysis was conducted. RESULTS: Seventeen individuals participated in the study. Six themes emerged from the analysis as follows: (i) online communication; (ii) offline communication; (iii) behavioural targeting and education; (iv) campaign frequency and reach; (v) demographic segmentation; and (vi) campaign identity. The use of social media for campaign delivery featured strongly in all conversations. Participants also recommended offline communication using posters and radio/television advertisements to scale up the campaign and achieve wider reach. Advertisements to overcome embarrassment surrounding testicular health were particularly recommended. Participants emphasised that campaign delivery must be dynamic whilst ensuring that the health-promoting messages are not diluted or lost. They stressed the importance of being inclusive and tailoring the campaign to different age groups, gender identities and sexual orientations. CONCLUSIONS: Study recommendations will be used to design and deliver the campaign. Future research will be needed to evaluate the feasibility, acceptability, cost and effect of the campaign on promoting testicular awareness and early detection of testicular diseases. PATIENT OR PUBLIC CONTRIBUTION: A participatory research approach was used to co-design the campaign with members of Lesbian, Gay, Bisexual, Transgender and Queer+ (LGBTQ+) friendly organisations, LGBTQ+ student bodies, LGBTQ+ staff networks, LGBTQ+ sports clubs, men's health organisations, testicular cancer survivors, health policy makers, media and marketing experts and graphic designers.

Choking in patients with neurological disorders and role of drug-induced dysphagia.

Choking is a type of asphyxia due to the internal obstruction of airways by foreign material, quite always food. Most choking deaths are accidental and occur so quickly that may mimic a heart attack. This scenario is also known as "Cafè coronary syndrome" or "bolus death". At autopsy, pieces of under-chewed food are commonly lodged at, above, or in the tracheal space adjacent to the laryngeal inlet. In these fatal events mechanisms other than asphyxia can be also involved, such as a vasovagal episode (by stimulation of the autonomic nerve plexus of the laryngeal inlet) or swallowing impairment. Swallowing is a complex, semi-automatic process that can be affected by various disorders (i.e. dementia, Parkinson, neurological injuries, etc.), senility and external factors causing oropharyngeal dysphagia (OD). Among these factors, several drugs have been also associated with impaired swallowing, including drugs acting on the CNS like antipsychotics and antiepileptics. Three cases of witnessed bolus deaths are reported. All victims were affected by neurological defects and took medications acting on CNS. In all cases, at autopsy pieces of food were found distributed from the laryngeal inlet along the main axis of the trachea up to the large bronchi over the bifurcation. Additional autopsy findings were represented by facial congestion and cyanosis, subepicardial petechiae and pulmonary emphysema.

Coffee ground emesis and early endoscopy: Is timing actually relevant? / Vómitos en posos de café y valoración endoscópica precoz. ¿Es realmente el tiempo la clave?

OBJECTIVE: Coffee ground vomiting is a classical symptom of upper gastrointestinal bleeding. However, the clinical usefulness is limited, due to the low positive predictive value. Our goal is to determine if whether an urgent endoscopy does modify our therapeutic management with a real impact on survival. PATIENTS AND METHODS: It is a retrospective, observational and descriptive study. We selected all patients that underwent a gastroscopy in our center for coffee ground vomiting over the last 4 years (2017-2021). Two groups were established: urgent endoscopy (first 24h) and scheduled (over 24h). Then we studied differences between both groups regarding survival, ICU admission, hospitalization days and rebleeding. RESULTS: Three hundred and fourteen patients were identified, from which 276 were included, with 176 belonging to the urgency group and 109 to the scheduled group. There were no differences in the ICU admission, hospitalization days, survival or rebleeding after 30 days. There were no differences either in the number of potentially bleeding lesions or the need of endoscopic therapeutic. CONCLUSIONS: Coffee ground vomiting, without any other data supporting upper gastrointestinal bleeding, does not represent a reliable indicator. Performing urgent endoscopy is not beneficial in terms of morbimortality. Therefore, a more conservative strategy would allow to differ endoscopy, decreasing risks and reducing costs, without affecting the prognosis.

Encouraging death communication in a death-avoidant society: analysis of interviews with death café organizers.

BACKGROUND: Post-war Japanese tend to avoid discussion of death, resulting in a lack of death communication within clinical settings. However, with the aging of society, the significance of conversations and decisions related to end-of-life issues has grown. In 2007, the government established guidelines for decision-making in end-of-life care. Nonetheless, death communication remains a challenge for healthcare professionals in clinical settings. In contrast, death cafés have spontaneously emerged within communities as informal gatherings to openly discuss and explore death. Learning from death café organizers may help healthcare professionals encourage death communication in a death-avoidant society. Therefore, a qualitative study was conducted to describe death cafés by examining the underlying motivation and practices through interviews with death café organizers. METHODS: Individual in-depth interviews were conducted with death café organizers. Two key aspects were explored: 1) the underlying motivations of organizers; and 2) the practices and challenges encountered in running death cafés. The interviews were transcribed verbatim and analyzed using a qualitative descriptive approach. Thematic analysis was used. RESULTS: The study identified two themes representing the underlying motivation of death café organizers: individually-oriented and community-oriented. These themes exhibited contrasting orientations and were collectively termed "individual-community orientation". Regarding the practice of death cafés, the focus was on the "attitude towards having attendees with and without grief in the same session." Participants' attitudes towards this aspect fell into two categories with opposing orientations: "purification" and "inclusion." The "purification-inclusion orientation" was more prevalent among organizers who initiated death cafés due to their personal experiences. A matrix was created to categorize death cafés based on their underlying motivations (individual vs. community-oriented) and practices (purification vs. inclusion). This classification resulted in quadrant 1 (community-oriented, inclusive) and quadrant 3 (individually-oriented, purification). Notably, death cafés in quadrant 1 were often held in temples. CONCLUSIONS: Japanese death cafés can be classified into two categories: individually and purification-oriented and community and inclusive-oriented categories. Healthcare professionals can learn valuable insights from death café organizers, particularly in promoting death communication. Specifically, temple death cafés, with their inclusive practices and orientation towards community, can be particularly beneficial in fostering inclusivity and community engagement.

Plexiform neurofibromatosis of the lower back: A rare case report.

INTRODUCTION: Plexiform neurofibromatosis is a relatively rare manifestation of Type 1 neurofibromatosis (NF-1). This condition leads to gross disfiguration along with functional disability. We are presenting a case of 49 year male with Plexiform neurofibromatosis of lower back. The aim of this rare case report is also to discuss the management difficulties encountered. PRESENTATION OF CASE: A 49 year male presented to us with gradually increasing swelling over the lower back which was present since his 10 years of age. He had already undergone debulking surgery for the same swelling 10 years back. For the last 2 years the swelling had increased in significant amount. He gave history of similar swellings in his father and grandfather. Proper examination revealed multiple café au lait macules, giant plexiform neurofibroma over lower back and multiple nodular swellings all over the body (neuroma). Biopsy report from previous surgery showed neurofibroma. He underwent debulking surgery. The procedure went for 12 h continuous. Intraoperatively, the mass was highly vascular and excessive bleeding was encountered. About 3 L of blood loss was there and patient received 12 units of blood products. DISCUSSION: Plexiform neurofibromas are uncommon and may occur in around 30 % patients with NF-1. The genetic defect lies in chromosome 17 that encodes a protein neurofibromin. It causes disfiguration and severe distress to patients. Debulking surgery is one of the treatments to decrease the difficulties occurred from the mass. The aim of this report is to discuss the difficulties occurred in surgical intervention of this rare condition like excessive blood loss. CONCLUSION: Although timely intervention could limit the disfigurement and morbidity associated with large lesion, due to unpredictable natural course and growth pattern, it is difficult to decide best time to intervene surgically. Registration of such rare case facilitates patient monitoring and development of appropriate treatment protocols.

Neurofibromatosis-Noonan Syndrome With Primary Amenorrhoea: A Case Report.

Neurofibromatosis-Noonan syndrome is a rare RASopathy syndrome. It occurs due to the mutation in the NF1 gene and the patients present with the phenotypic features of both Neurofibromatosis and Noonan syndrome. Here a case of an early adolescent girl is described who presented with the chief complaint of primary amenorrhoea and on evaluation was diagnosed to be a patient of Neurofibromatosis-Noonan syndrome. The index case was short-statured with a short and broad neck. Physical examination revealed a pointed pinna, hypertelorism, telecanthus, characteristic facies, and multiple freckles all over the body. She also had numerous atypical café-au-lait spots. Whole genome sequencing revealed Neurofibromatosis-Noonan syndrome which was likely a pathogenic variant causative of the typical phenotype present with a mutation in the neurofibromin gene (NF1) on chromosome 17q11. We discuss here the management and follow-up of the case.