Multidisciplinary Consultation Research Articles

Hyperbaric oxygen therapy in the treatment of severe gastric laceration with active bleeding: A case report

BACKGROUND Endoscopic therapy is the primary approach for treating Mallory-Weiss syndrome, particularly under conditions of mucosal protection and gastric acid suppression. However, for a subset of patients who cannot undergo endoscopic intervention or for whom such treatment proves ineffective, alternative measures like arterial embolization or surgical intervention may be required. While hyperbaric oxygen therapy (HBOT) has been applied across a range of medical conditions, its application in managing hemorrhage due to gastric tears remains undocumented. CASE SUMMARY A 52-year-old patient was admitted with symptoms of hematemesis and melena, and an endoscopy revealed a gastric fundus tear approximately 4 cm × 5 cm in size. The lesion was considered unsuitable for endoscopic repair by the attending endoscopist. Despite conservative measures, including fasting and acid suppression, the patient experienced persistent bleeding and a substantial decrease in hemoglobin levels relative to admission values. Following a multidisciplinary consultation, HBOT was initiated, resulting in the cessation of bleeding and rapid wound healing. CONCLUSION For patients with gastric tears presenting with active hemorrhage, HBOT might offer an effective alternative when conventional endoscopic therapies are not viable or have been unsuccessful.

Pediatric Brain Tumors in Western Kenya: Patient Outcomes and Healthcare Providers' Perspectives.

Pediatric brain tumors are understudied compared to other pediatric malignancies in low- and middle-income countries. Care delivery is inherently dependent on collaboration between multiple departments. This study aimed to present baseline data of pediatric neuro-oncology care in Western Kenya and illustrate barriers and facilitators of multidisciplinary care. We performed a mixed-methods study using medical records and interviews. Children below age 19years, managed for a brain tumor at the neurosurgery or pediatric oncology departments between 2015 and 2022, were included. Various cadres (consultants, residents, medical officers, clinical officers, nurses, counselors) and teams (neurosurgery, pediatric oncology, radio-oncology, radiology, pathology) involved in pediatric brain tumor care participated. Seventy-nine brain tumor patients were identified. The most prevalent confirmed diagnosis was medulloblastoma (n = 21). Most patients underwent surgery (n = 60; 76%). Event-free survival rate at 2years was 13%. Abandonment was the most common (n = 36; 46%) treatment failure. Multidisciplinary consultation occurred more frequently between 2020 and 2022 than between 2015 and 2019 (OR 2.7 [95% CI: 1.0-6.9; p = 0.04]). Barriers and potential facilitators of multidisciplinary management were resources, diagnostic and therapeutic flow, standards, knowledge, information comprehension, and work relationships. Themes interacted at a governmental, facility, and community levels. This baseline overview of pediatric neuro-oncology care in Western Kenya showed that survival of children with pediatric brain tumors was poor and treatment abandonment was common. Strengthening the capacity at different organizational levels will improve continuity of care and expand the knowledge to support holistic multidisciplinary care for children with brain tumors in Kenya.

Position statement and guidelines about Endoscopic Sleeve Gastroplasty (ESG) also known as "Endo-sleeve".

IS ESG EFFECTIVE IN THE TREATMENT OF OBESITY AND ASSOCIATEDCOMORBIDITIES?: Endoscopic Sleeve Gastroplasty (ESG) is more effective than lifestyle modifications alone for weight loss and improving obesity-related comorbidities. While it has less effect on weight loss compared to Laparoscopic Sleeve Gastrectomy (LSG) in the short to medium term, it offers similar comorbidities resolution to LSG. IS ESG A SAFE PROCEDURE, AND WHAT ARE ITS RISKS?: The safety profile of ESG is consistently supported in the literature. Surgical complications after ESG, ranging from 1.5 to 2.3%, such as bleeding, perforation, fistula, or upper bowel obstruction, are rare and typically managed endoscopically. The incidence of new-onset gastro-esophageal reflux disease (GERD) is deemed negligible and occurs less frequently after ESG compared to SG. WHAT ARE THE INDICATIONS AND MANAGEMENT METHODS?: Multidisciplinary care for patients undergoing ESG should be provided in an accredited center authorized to perform bariatric and metabolic surgery, with validation through a multidisciplinary consultation meeting (RCP). Perioperative management should be personalized and ideally modeled after the protocols already in place for bariatric and metabolic surgery to ensure satisfactory and lasting weight and metabolic outcomes. Adherence to follow-up visits is a significant predictor of successful weight loss outcomes after ESG. Additionally, all endoscopic surgical procedures should be documented in a registry affiliated with a recognized scientific society, as is standard for other bariatric surgical procedures. WHICH HEALTHCARE PROFESSIONALS CAN PERFORM ESG?: ESG must be performed by a practitioner trained in endoscopy and obesity management, capable of ensuring thorough preoperative care and comprehensive postoperative follow-up, supported by an experienced multidisciplinary team. In France, Notice No. 2021.0040/AC/SEAP of June 10, 2021, issued by the Haute Autorité de santé (HAS) college, specifies that "the technology of ESG via the trans-oral approach, involving wide plication of the greater gastric curvature […] with an endoscopic suture placement device, enables a gastroenterologist or a visceral and digestive surgeon to perform gastric plication through digestive endoscopy by placing sutures in the stomach". Ideally, this should take place in an accredited center authorized to perform bariatric and metabolic surgery, such as those approved by the Agence régionale de santé (ARS), in accordance with Article R6123-212 of December 2022 of the French Public Health Code. WHAT ARE THE RECOMMENDATIONS AND VIEWS OF OTHER INTERNATIONAL SCIENTIFICSOCIETIES?: ESG is an integral part of the therapeutic arsenal available to bariatric and metabolic surgeons, offering an effective and valuable treatment option for obesity in specific patient populations. The International Federation for the Surgery of Obesity (IFSO) Bariatric Endoscopy Committee, following a comprehensive systematic review and meta-analysis, endorsed ESG as an effective and valuable treatment for obesity. ESG is particularly beneficial for patients with class I and II obesity, as well as for those with class III obesity who are not suitable candidates for metabolic bariatric surgery. Additionally, it can be proposed as an addition to lifestyle interventions in adolescent patients with class II obesity. The SOFFCOMM endorses endoscopic sleeve gastroplasty (ESG) as an effective and valuable treatment for obesity and highlights the importance of appropriate patient selection, coupled with rigorous evaluation of long-term outcomes, to refine its indications further.

Boundary-work of genomic medicine: safeguarding the future of diagnostic next-generation sequencing in the clinic

Next-generation sequencing (NGS) technologies – which allows to look at large parts or even the whole genome at once - are making their way into diagnostic clinical care. With trends towards ‘mainstreaming’ genetic services into general medicine, significant ethical challenges, and a disputed clinical utility and cost-benefit ratio, genomic medicine’s autonomy and dominance in defining and offering NGS care may come under increased pressure from the outside (e.g., regulators, other healthcare providers and facilities, ethicists, and patients). In this paper, we show how the field of genomic medicine engages in substantial boundary work in reaction to these circumstances. Building on multi-sited fieldwork in two centres for human genetics in Belgium and the Netherlands, we show how acts of demarcation serve to uphold an image of expertise and authority which helps to maintain the field’s autonomy and dominance. Through examining the delineations put forward in interviews, practice (based on observations in multidisciplinary meetings and consultations), and grey and academic literature, we show the politics involved in moving NGS forward fairly seamlessly in a way that suits the field. First, we show how genetic healthcare professionals have redefined what makes a genetic test ‘valuable’ so that it underlines its current value. Secondly, we examine how a genetic imaginary is put forward that both emphasizes the extraordinary character of genomic medicine and the normalcy of NGS testing. By underlining the need for their expertise whilst simultaneously normalizing the ethical challenges and positioning themselves as most capable of reflecting on these, the field minimized external regulation and kept a close grip on defining ethical issues and policy. Despite their current dominance in shaping the future of genomic care, we argue that the closedness of the field hinders it in benefiting from external expertise, reflection and monitoring to ensure enduring and broad support for this future.

Extreme Prematurity: A Case Report on the Importance of Multidisciplinary Consultations Before and After Maternity Ward Discharge

Extreme Prematurity: A Case Report on the Importance of Multidisciplinary Consultations Before and After Maternity Ward Discharge

Updates on hairy cell leukemia (HCL) and HCL-like disorders

Hairy cell proliferations represent very different entities. They include hairy cell leukemia in its classic form (HCL), a well-defined entity, but also the variant form of HCL (LT-V ou HCL-V), whose presentation is far from HCL and whose prognosis is poorer. Other hairy cell proliferations include splenic red pulp lymphoma (SDRPL) and splenic marginal zone lymphomas (SMZL) with circulating villous cells. In this article, we emphasize the novelties concerning the different recent biological aspects of HCL, including the unusual clinical presentations but also the importance for the diagnosis of the detection of the BRAFV600E mutation, a molecular marker of the disease, and the presence of other non-canonical mutations that should be identified because of the contraindication to the use of BRAF inhibitors. Finally, the presence of a non-mutated profile of immunoglobulin heavy chains (IGHV), observed in 20% of cases, is associated with a poor prognosis. We also provide guidance in characterizing other hairy cell proliferations when examining the blood smear. The first-line treatment of HCL has recently changed and immunochemotherapy combining cladribine plus rituximab has become the gold standard. In relapsed or refractory forms, other treatments should be discussed in a multidisciplinary consultation meeting and combine BRAF inhibitors with anti-CD20 antibodies, BTK inhibitors or Bcl-2 inhibitors. The choices should be discussed according to the patient's profile but also their biological profile.

Expanded phenotypes and pathogenesis of geleophysic dysplasia 3 resulted from a de novo LTBP3 mutation: A case report.

The aim of this study is to investigate the de novo mutation and clinical features of latent transforming growth factor-beta-binding protein 3 (LTBP3) gene-associated geleophysic dysplasia 3, and possible mechanisms of action. A nonconsanguineous couple was recruited for this study due to the presence of intrauterine growth restriction. The pregnant woman and her elder daughter presented with skeletal abnormalities with diabetes. The pregnant woman underwent amniocentesis for cytogenetic analysis and copy number variation sequencing. Furthermore, we employed a combination of pedigree whole exome sequencing and bioinformatics analysis to predict the effects of mutations. The results of karyotyping and copy number variation sequencing were normal. And the whole exome sequencing results indicated that the family carried a de novo mutation c.852_853insAGG (p.L284_P285insR) in the LTBP3 gene (NM_001130144.3) inherited from the mother. The results of bioinformatics prediction demonstrated the mutation influenced the stability of the LTBP3 gene, thereby enhanced the transforming growth factor β signaling pathways. The couple terminated the pregnancy after comprehensive consideration. A de novo non-frameshift mutation of the LTBP3 gene might enhance the transforming growth factor β signaling pathways, thereby leading to geleophysic dysplasia 3. As a rare multi-system musculoskeletal disorder, geleophysic dysplasia 3 necessitates early prenatal diagnosis and multidisciplinary consultation in order to facilitate further diagnosis and evaluation of the patient and the fetus.

Implementing the Multi-Disciplinary Expertise Team method to reduce involuntary care in intellectual disability care: multi-methods study evaluating adaptation and effectiveness.

Involuntary care in intellectual disability care may be reduced by deployment of multidisciplinary consultation. The Multi-Disciplinary Expertise Team (MDET) method proved effective in a previous trial on increasing involuntary care reduction. The current study aimed to examine how four organizations adapted MDET during implementation, and tested whether these versions were also effective. Semi-structured interviews with MDET-coordinators were analyzed using the Framework Reporting Adaptions and Modifications-Expanded. A quasi-experimental interrupted time-series design tested change in weekly counts of involuntary care recordings from before to during MDET implementation, in care homes that implemented MDET (n = 24) compared to care homes providing care-as-usual (CAU). Adaptations to MDET varied. These included implementing MDET without an independent MDET-team and loosening recordings of involuntary care. No differential changes in recordings were found between the implementation- and CAU-groups. Scaling-out MDET to other organizations led to adaptations that may have undermined its effects on reducing involuntary care.

Chinese expert consensus on standardized treatment of presacral cyst(2024 edition)

Surgical excision is the only radical treatment for presacral cysts, which are difficult and risky because of the complex anatomical structure around them, involving important blood vessels and nerves. Improper surgical procedures will lead to recurrence of presacral cysts after surgery, causing great pain to patients. With the deepening of clinical research on presacral cysts, some new problems have been found to be overcome. On the basis of the Chinese Expert Consensus on Standardized Treatment of Presacral Cysts (2021 edition), the Pelvic Tumor Integration Professional Committee of the Chinese Anti-Cancer Association organized authoritative experts in relevant professional fields including general surgery, gastrointestinal surgery, colorectal and anal surgery, gynecological oncology, bone and soft tissue surgery, neurosurgery, pathology, imaging and other departments, to formulate the Chinese Expert Consensus on the Standardized Diagnosis and Treatment of Presacral Cysts (2024 edition) after a consensus meeting. The 2024 consensus provides a comprehensive introduction to the following seven aspects, including the origin and pathology of presacral cysts, related anatomy and classification of surgery, diagnosis and differential diagnosis, surgical philosophy, surgical methods for excision, perioperative complications and management, follow-up, and subsequent treatment, and has reached a consensus after repeated discussions and revisions. Compared with the 2021 consensus, the main updates in the 2024 consensus include the following aspects: in the anatomy and classification section, the anatomical classification of high and low, single and multiple cysts of the presacral space has been added; in the surgical concept section, it is emphasized to protect the sacral nerves for presacral cysts with sacral variations; in the surgical approach section for excision, the surgical approach for different anatomical types of presacral cysts has been further clarified. For patients with preoperative enterocutaneous fistula, the use of gluteus maximus muscle flap to repair the fistula reduces the probability of preventive stoma. For suspected malignant presacral cysts, multidisciplinary consultation is required, and if radical resection is not possible, further biopsy is performed to clarify the pathology and develop a comprehensive treatment plan.

Why People Seek Obesity Care Through Digital Rather Than In-Person Services: A Quantitative Multinational Analysis of Patients From a Large Unsubsidized Digital Obesity Provider.

Digital modalities have been demonstrated to improve access and adherence to various chronic care services by mitigating geographical, temporal, and psychological barriers to ongoing multidisciplinary consultations, which such diseases necessitate. The net utility of medication-supported digital weight-loss services (DWLSs) has been intensely debated over the past few years due to their rapid uptake against the backdrop of the obesity epidemic. However, research on these services in real-world settings is scarce. Patients of a large multinational DWLS were emailed a four-question survey, soliciting their reasons for using the service instead of face-to-face (F2F) alternatives. Responses were collected from 1,283 patients, including 481 from the United Kingdom, 428 from Germany, and 374 from Australia. Personal discomfort in discussing weight loss in F2F settings was the most common reason for subscribing to the Eucalyptus DWLS across the full cohort (N = 557, 43.41%), followed by the modality's flexibility (N = 441, 34.37%), patient inability to access comprehensive obesity care through a local general practitioner (GP) (N = 435, 33.90%), and marketing or brand awareness (N = 358, 27.90%). Several significant differences were observed between country, gender, ethnicity, and regular GP status across each of the subscription reasons. This study contributed another important layer to the emerging literature on DWLSs by generating preliminary quantitative evidence of their benefits to obesity care access. However, the findings also indicated that a certain number of patients may be subscribing to such services simply to access weight-loss medications rather than multidisciplinary care. To derive clearer conclusions about this concern, follow-up studies should aim to analyze health coaching engagement markers across a range of service providers.

Therapeutic implications of narrow or positive surgical margins in head and neck tumors

IntroductionThe treatment of squamous cell carcinomas of the head and neck region involves a multidisciplinary approach that combines surgery, radiotherapy and chemotherapy.AimThe aim of this article is to discuss the therapeutic implications of narrow or positive surgical margins in head and neck cancers.Material and methodsThe article was written based on the analysis of the literature on the subject.Results and discussionSurgical resection is an important part of a approach to treatment and the adequacy of resection during surgery is determined by the margin status. A margin greater than 5 mm is considered free, less than 5 mm - narrow, and less than one mm is considered positive. For proper planning of radiotherapy, i.e. adequate selection of areas and doses, the following are necessary: imaging, endoscopy, pathology report. It should also be remembered that the lack of important information from the treatment and the fear of making a geographical error and/or not matching the dose to the actual stage of the disease and the status of the margins; affects the decision of the radiotherapist who will escalate the dose, which may lead to long-term tissue damage with loss of their function and significantly affect the quality of life of these patients.ConclusionsBefore initiating treatment, each patient should undergo analysis in multidisciplinary consultations to tailor the optimal therapeutic decision to the stage of the disease and any coexisting conditions.Patients with advanced disease and/or challenging localization and/or rare disease diagnoses should be treated in highly specialized centers where close collaboration between facilities is essential.

Incidence of post-intensive care syndrome among patients admitted to post-ICU multidisciplinary consultations: the retrospective observational PICS-MIR study

To determine the prevalence of functional, respiratory and renal impairments and of post-intensive-care-syndrome (PICS) among patients who had attended a post-ICU multidisciplinary consultation (post-ICU-MC) around 3 months after ICU discharge, we performed a retrospective, monocentric observational study, at Clermont Ferrand University hospital, France. We included patients who had attended a post-ICU-MC. Their characteristics during ICU stay and at the post-ICU-MC were collected. Functional status was assessed by the 6-min-walking test, handgrip test and peak inspiratory pressure, respiratory function by exploratory functional outcomes, mental status by SF-36 score, and quality of life by SF-36 score and European Quality of Life 5 Dimensions questionnaire. Overall, we enrolled 67 patients, of whom 70%, 74%, and 68% had functional, respiratory, and renal impairments, respectively, at the post-ICU-MC. Additionally, 40%, 28%, 19%, and 2.5% had three, two, one, and none of these impairments, respectively. All patients experienced mental disorders and a decline in quality of life. Functional impairment correlated with frailty score and sex, and respiratory function with age. To conclude, the prevalence of PICS in our cohort was high, as was that of functional, respiratory and renal failure.

A rare case of endoscopic visualization of a metallic coil in a duodenal ulcer after transcatheter arterial embolization

Abstract Transcatheter arterial embolization is the therapy of choice for recurrent peptic ulcer bleeding refractory to standard endoscopic hemostatic techniques. It offers a minimally invasive approach with high efficacy, lower mortality, and complication rates compared to surgery. However, rare adverse events attributed to coil migration including pulmonary embolism, stroke, myocardial infarction, and bowel obstruction have been reported. We report the case of a 72-year-old female with a massive duodenal ulcer bleed refractory to endoscopic hemostatic techniques of epinephrine injection and bipolar cautery. She had a successful transcatheter arterial embolization of the culprit vessels. Repeat esophagogastroduodenoscopy for increasing vasopressor requirements and transfusion unresponsive anemia revealed the visualization of the metallic coil in the duodenal ulcer base with no active bleeding which was successfully managed conservatively through multidisciplinary consultation.

Knowledge, Attitudes and Confidence in Providing Dementia Care to Older Adults Among Nurses Practicing in Hanoi, Vietnam: A Cross-Sectional Study.

Nurses' competencies are crucial in providing effective dementia care in healthcare settings for older people. Understanding nurses' current knowledge, attitudes and confidence in this area is essential for developing education programmes for healthcare professionals to improve patient care. The purpose of this study was to assess the knowledge, attitudes and confidence related to providing dementia care among nurses practicing in geriatric hospital wards and nursing homes in Hanoi, Vietnam. A total of 269 out of 313 (response rate was 86%) full-time nurses working at six geriatric wards in hospitals and nursing homes in Hanoi were surveyed using three self-administered questionnaires: the Dementia Knowledge Assessment Scale (DKAS), Dementia Attitude Scale (DAS) and the Confidence in Dementia Scale (CODE). Multiple regression models were constructed to identify factors associated with dementia care knowledge, attitudes and confidence. The overall mean scores of nurse's knowledge, attitudes and confidence were 28.1 ± 8.0, 102.1 ± 13.4 and 28.3 ± 6.4, respectively. A positive correlation was reported between the knowledge and attitude scores and between the attitudes and confidence scores. Greater seniority (β: 0.29; 95% CI: 0.03-0.56) and having learned information through colleagues or experts (β: 3.02; 95% CI: 0.88-5.16) were associated with better dementia knowledge. A higher level of dementia training desirability was associated with increased knowledge (β: 0.74; 95% CI: 0.28-1.20) and favourable attitudes (β: 0.94; 95% CI: 0.15-1.74), whereas frequent exposure to dementia cases was associated with higher confidence (β: 3.56; 95% CI: 1.39-5.73) and more favourable attitudes (β: 3.96; 95% CI: 0.27-7.66). Our study highlights deficits in knowledge, low levels of social comfort in nurses' attitudes towards people with dementia and a lack of confidence in providing effective care among nurses practicing in healthcare settings for older adults in Hanoi, Vietnam. With the ageing of the population and with increasing numbers of persons living with dementia, our findings suggest the importance of improving the training of nurses to specifically address these deficits. Multidisciplinary consultation meetings need to be encouraged in the healthcare workplace setting as well as ensuring the presence of qualified counsellors for care teams working with older adults in non-hospital settings. Training about non-cognitive symptoms of dementia and demonstrating effective verbal and non-verbal communication skills is critical and should be integrated into nurse's educational training.

Integrated health and social care for pregnant women and young families in a vulnerable situation in the Netherlands: Professionals’ views on cross-sectoral collaboration

PurposeThis qualitative study investigated the perspective of professionals from the medical, social, and public health care sectors with regard to: cross-sectoral collaboration in providing integrated health and social care during the first thousand days of life (preconception up to children aged two years) for pregnant women and young families in a vulnerable situation. This knowledge is needed for the enhancement of cross-sectoral collaboration and the implementation of integrated care. MethodsProfessionals (n = 35) were recruited from three deprived municipalities in South-Limburg, the Netherlands. Semi-structured interviews gained insight into professionals’ views, by using a theoretical framework based on the ‘National model for integrated care for childhood overweight and obesity’. ResultsProfessionals stressed the importance of addressing both medical and social risk factors in pregnant women and young families in a vulnerable situation. However, their interpretation of vulnerability differed, hindering collaborative working. Furthermore, cross-sectoral collaboration was restricted by lack of formal cooperation agreements between sectors, and unclear referral lines from the medical to the social sector. Professionals often did not know the expertise and role of other sectors. Digital information and referral systems are not connected between the sectors which acts as an inhibiting factor. Discussion/ConclusionThis study highlights the need and ways to facilitate collaborative working between the medical, social, and public health care sectors in delivering integrated care. Recommendations include: 1) Enforcing implementation strategies aimed at facilitating collaborative working: formal regulations, structured agreements, and use of consistent definitions and protocols to facilitate integration; 2) Strengthen informal connections between professionals by the Solid Start local coalitions; 3) Align all professionals, also those not directly involved in the Solid Start local coalition, with the goals and vision of the coalition; 4) Implement a joint digital file or IT referral system to improve cross-sectoral collaboration; 5) Enhance collaboration between sectors at case level through multidisciplinary consultation.

A case report on the choice of venous access after ectopic peripherally inserted central catheter in an upper limb of a patient with a second recurrence of right-side breast cancer.

Intravenous catheter placement in the healthy upper extremity is preferred for chemotherapy in patients with breast cancer. Common venous accesses are peripherally inserted central catheters (PICCs) and totally implantable intravenous port catheters (TIVPs). In this case, a patient with breast cancer had a history of infusion port placement through the left internal jugular vein, with ipsilateral innominate vein stenosis after placement. The patient was re-treated with a PICC placed ectopically through the left upper limb into the intrathoracic vein. After multidisciplinary consultation, a transfemoral PICC combined with intracavitary electrocardiography (IC-ECG) was performed to establish venous access. This case can assist PICC catheterization nurses in developing optimal venous access strategies tailored to the specific situations of patients in similar situations. Through adequate evaluations and optimal selection of venous access, the success rate of disposable catheterization can be improved, and the risk of complications reduced. A 53-year-old female with breast cancer had a history of infusion port, with ipsilateral innominate vein stenosis after placement. The patient was re-treated with a PICC placed ectopically through the left upper limb into the intrathoracic vein. An axial computed tomography (CT) image before totally implantable venous access port (TIVP) placement and An axial CT 103 days after TIVP placement shows diffuse stenosis of the left innominate vein, associated with infusion port placement through the left internal jugular vein. After multidisciplinary consultation, a transfemoral PICC combined with intracavitary electrocardiography (IC-ECG) was performed to establish venous access. The patient's lower limb PICC was left in place for 201 days with no complications, completing the full treatment cycle. This case presents a rare and insightful clinical scenario. For patients with a history of infusion port placement, particularly via the left internal jugular vein, careful analysis of the innominate vena cava and examination of chest wall vein exposure are essential to determining the optimal vascular access strategy.

A case report on renal metastasis as an unusual presentation of choriocarcinoma

BackgroundChoriocarcinoma is an aggressively invasive neoplasm, characterized by its rapid proliferation and propensity for metastasis to distant organs via hematogenous dissemination. Lungs (80%), vagina (30%), pelvis (20%), liver (10%), and brain (10%) are the most frequently metastasized organs. Renal metastases are very rare. The clinical manifestations of choriocarcinoma varies depending on the site of disease, making diagnosis challenging. In this report, we provide a clinical case of choriocarcinoma with metastases to the renal and pulmonary systems, displaying symptoms akin to those observed in ectopic pregnancy.Case presentationA 27-year-old female, G2P1, with a previous history of full-term pregnancy in 2018, presented to the hospital with the onset of vaginal bleeding and accompanying abdominal aches. Investigations uncovered a left adnexal mass with a human chorionic gonadotropin (hCG) level of 77,4 mIU/mL and a left pulmonary nodule measuring 31 mm x 21 mm. Laparoscopy was performed due to the high suspicion of an ectopic pregnancy. However, no visible villi were identified during the surgery, and postoperative blood hCG levels continued to rise. A diagnostic curettage also failed to reveal any villi, maintaining the suspicion of a persistent ectopic pregnancy. Following two ineffective courses of methotrexate therapy, the patient was referred to our facility. Prior to her referral, an ultrasound had indicated a mass in the right kidney. However, upon arrival at our hospital, subsequent ultrasonography failed to detect any renal masses. Despite two months of outpatient monitoring, there was a sudden and significant increase in her serum hCG levels. An emergency laparoscopy was performed, revealing no pregnancy-related lesion. After surgery, the patient’s hCG levels dropped dramatically to less than one-tenth of the original amount. Multisite enhanced computed tomography(CT)revealed suspicious lesions in both the renal and pulmonary regions. Upon thorough multidisciplinary consultation, a diagnosis of choriocarcinoma was entertained. Consequently, the patient successfully underwent eight cycles of chemotherapy and has remained recurrence-free for the past year.ConclusionsThis case underscores the potential for choriocarcinoma in women of reproductive age who exhibit radiological signs of renal masses. Early and accurate diagnosis, followed by prompt intervention, is essential to prevent needless surgery procedures.

A Case of Multiple Tongue Hamartomas with Cleft Palate: 7 Years of Follow-Up.

Hamartoma is a congenital benign lesion commonly found in the lungs, kidneys, colon, and other regions, but it is seldom seen in the oral cavity. Multiple hamartoma occurrences in the tongue are particularly rare. This article describes a 7-day-old female infant with multiple tongue tumors and a cleft palate, who had difficulty feeding and subsequently underwent tumor removal under general anesthesia. Nine months later, a cleft palate repair was performed. No genetic abnormalities were detected in the genetic testing. After the tumor removal, follow-ups were conducted every year to observe any recurrence of the tumors, the morphology and function of the tongue, and any systemic abnormalities. After 7 years of follow-up, there was no recurrence of the tumors, and the morphology and function of the tongue were normal, with no systemic diseases found. It is crucial to conduct multidisciplinary consultations for children diagnosed with multiple tongue hamartomas and to monitor their overall development while addressing oral lesions.

Multidisciplinary care to optimise pregnancy outcomes among Jehovah’s Witness: Case series over fifteen years in a tertiary teaching hospital

ObjectiveTo assess the obstetric and neonatal outcomes of Jehovah’s Witness (JW) mothers and the willingness to accept blood products after multidisciplinary management. Study DesignA retrospective case-control study was conducted at Queen Mary Hospital from 2005 to 2020. Delivery records of pregnant women who identified themselves as JW were reviewed. The immediate next age-matched non-JW patient in the booking register was assigned as control. ResultsA total of 96 subjects were identified within the study period (48 JW and 48 non-JW age-matched patients). The haemoglobin levels of JW and non-JW were similar at booking, 28 weeks of gestation, pre-delivery and postnatal day 2. JW mothers were more likely to receive iron supplements in the antenatal period than the control group (27.1 % vs. 6.3 %, p = 0.01) despite the similar rate of antenatal anemia in both groups (4.2 % vs. 4.2 %, p = 1.00). There were no differences in mode of delivery, total blood loss at delivery, rate of primary postpartum haemorrhage, gestational age at delivery, birth weight, and Apgar score at 1 and 5 min between JW and non-JW. There were no maternal deaths, hysterectomy or admissions to the adult intensive care unit in either group. Six JW women accepted packed cell transfusion at the initial consultation and did not receive multidisciplinary care. The remaining 42 JW women had consultant obstetric and anesthesiologist review before delivery. After multidisciplinary consultation, two (4.8 %, 2/42) accepted blood transmission and 11 (26.2 %, 11/42) accepted some components of blood. The remaining 29 (69 %, 29/42) women refused all blood products. ConclusionJW patients who received multidisciplinary care achieved comparable pregnancy and neonatal outcomes to the normal population. Antenatal iron supplement was more common among pregnant JW despite the similar rate of antenatal anemia compared with the non-JW women. 12.5% of JW women agreed packed cell transfusion at the initial consultation and a further 27.1% of JW women agreed to some forms of blood products after multidisciplinary counseling.

Integrating deep phenotyping with genetic analysis: a comprehensive workflow for diagnosis and management of rare bone diseases.

Phenotypes play a fundamental role in medical genetics, serving as external manifestations of underlying genotypes. Deep phenotyping, a cornerstone of precision medicine, involves precise multi-system phenotype assessments, facilitating disease subtyping and genetic understanding. Despite their significance, the field lacks standardized protocols for accurate phenotype evaluation, hindering clinical comprehension and research comparability. We present a comprehensive workflow of deep phenotyping for rare bone diseases from the Genetics Clinic of Skeletal Deformity at Peking Union Medical College Hospital. Our workflow integrates referral, informed consent, and detailed phenotype evaluation through HPO standards, capturing nuanced phenotypic characteristics using clinical examinations, questionnaires, and multimedia documentation. Genetic testing and counseling follow, based on deep phenotyping results, ensuring personalized interventions. Multidisciplinary team consultations facilitate comprehensive patient care and clinical guideline development. Regular follow-up visits emphasize dynamic phenotype reassessment, ensuring treatment strategies remain responsive to evolving patient needs. In conclusion, this study highlights the importance of deep phenotyping in rare bone diseases, offering a standardized framework for phenotype evaluation, genetic analysis, and multidisciplinary intervention. By enhancing clinical care and research outcomes, this approach contributes to the advancement of precision medicine in the field of medical genetics.