UNASSIGNED: Achalasia is a rare motility disorder affecting the oesophagus, leading to difficulties with eating and drinking. Participants in previous studies reported that they needed more social, clinical and behavioural support in the long-term management of achalasia. This study, therefore aimed to 1) identify the most challenging eating behaviour for people living with achalasia and 2) co-design a behaviour change intervention to help address the challenges they experience.
UNASSIGNED: This study used a qualitative approach involving online focus groups. The COM-B model was the theoretical framework, with behaviour change techniques (BCTs) as the active ingredients that target a mixture of capability, opportunity and/or motivation. Three focus groups were undertaken to obtain a range of input from different people living with achalasia. Participants in this study identified the target behaviour, prioritised the different BCTs which most resonated with them to design an intervention and decided on the mode of delivery. The research team analysed the techniques that helped participants with their eating behaviour using the COM-B model as a framework to create the intervention.
UNASSIGNED: The 24 participants in this study identified \"eating in a social setting\" as the target behaviour for the intervention. A workbook that can be personalised by the individual was the most suitable intervention. The workbook structure aligns with the constructs of the COM-B model. It includes reflection, activities and goal-setting sections based on what was indicated to be useful for the majority of the participants. Key techniques to overcome the challenges with eating in a social setting included social support, regulation to reduce negative emotions, goals and planning.
UNASSIGNED: Using a focus group approach with the COM-B model as the theoretical framework, the participants in this study developed an intervention to support people living with achalasia. In order to achieve long-term behaviour change, engagement with a personalised workbook could facilitate eating in a social setting. Future work will need to pilot the workbook to ensure it can support people to improve their quality of life and complement the ongoing care they receive from health services.

OBJECTIVE: Craniofacial microsomia (CFM) is a congenital condition that can be associated with feeding challenges in infants. As part of the larger \'Craniofacial microsomia: Accelerating Research and Education (CARE)\' program, this study described caregivers\' early feeding experiences.
METHODS: US-based caregivers of 34 children with CFM participated in remote narrative interviews. Two authors completed inductive thematic analysis in an iterative process until consensus was reached.
RESULTS: Caregivers\' narratives outlined the inherent challenges of feeding an infant with special healthcare needs. The first theme \'Navigating Challenges and Managing Expectations\' describes the distress participants experienced when they were unable to breastfeed and the negative emotional effect of switching to formula. The second theme \'Making Adaptations\' outlines the methods participants tried, including breast pumps and feeding tubes. The third theme \'Accessing Support\' describes participants\' interactions with healthcare providers and challenges accessing feeding support. The final theme \'Growing from Adversity\' recounts participants\' relief once their child established a feeding pattern and the personal growth gained from their experiences.
CONCLUSIONS: Caregivers reported several feeding related challenges associated with CFM, many of which negatively affected their wellbeing. Negative consequences were particularly pronounced in cases where caregivers\' feeding experiences differed from their expectations. Participants identified challenges in accessing reliable feeding information and support. Despite difficult experiences, caregivers cited some positive outcomes, including increased confidence and resilience.
CONCLUSIONS: Holistic feeding information and support for families affected by CFM should be inclusive of several feeding methods to improve care delivery, child health, and the caregiver experience.

UNASSIGNED: Goldenhar Syndrome is a rare congenital condition, typically characterized by craniofacial abnormalities and vertebral malformations. Due to its rare and complex nature, the etiology is unconfirmed, resulting in parental uncertainty and subsequent emotional sequelae. Clinical manifestations have been researched but few studies have explored parental wellbeing and Quality of Life (QoL). In this qualitative study, we explore parental views of the challenges and lived experience of raising a child with Goldenhar Syndrome.
UNASSIGNED: Ten biological parents (five mothers and five fathers), recruited at the Goldenhar UK Conference, took part in audio-recorded, semi-structured interviews. Interviews explored emotional wellbeing, views surrounding causation, support accessed, challenges faced, experience of stigma and future outlooks. Reflexive thematic analysis was employed, and transcripts were subject to deductive and inductive coding.
UNASSIGNED: Seven themes were identified: support networks (Goldenhar UK), rollercoaster of emotion; gendered coping; uncertainty; societal reactions; coping with challenge and acceptance.
UNASSIGNED: This is the first-time the life perspectives of parents, raising a child with Goldenhar Syndrome, have been explored via interviews. We have unearthed prominent issues that impact parental QoL including isolation and distress at the point of diagnosis, and throughout the multidisciplinary health journey. We have also established significant indicators of the ongoing QoL challenges faced by young people with Goldenhar Syndrome. Future work is underway exploring these issues further with teenagers, young people and adults with Goldenhar to develop a conceptual framework of their QoL. This will be used to develop a bespoke patient reported outcome (PRO) to give voice to the challenges children and young adults face during their medical journey.

Amelogenesis imperfecta (AI) is a rare genetic disorder affecting children and adults. Knowledge about AI is limited to clinical representation and radiographical findings. Various treatments are provided to children with AI, yet no definitive treatment guideline has been suggested in the literature. This scoping review highlights the knowledge of the etiology and classification of AI and synthesizes these findings in a comprehensive review, focusing mainly on the various forms of AI in children and management with a restorative conservative approach. Five electronic databases, namely, PubMed, Google Scholar, Embase, Web of Science, and Scopus, were searched for the relevant articles. The search was performed in two phases: first for title and abstract, and second for full-text articles. The studies included in this scoping review were published from 2013 to August 2023. The data extraction was done on a customized sheet. A total of 33 studies were included in this review, of which 19 were reports and series, seven were observational, and seven were reviews. Most patients included in this review suffered from the hypoplastic type of AI (54%), followed by hypomatured (36%), and hypocalcified (10%). The treatment modalities explained were divided into the following three phases: temporary, transient, and permanent. Almost all included reports suggested the requirement for guidelines for treating AI among young children. This scoping review suggests the need for guidelines for treating AI in children. Moreover, pediatric dentists should prioritize early diagnosis and treatment and long-term follow-up for AI in children to effectively enhance the patient\'s psychological well-being and overall quality of life.

UNASSIGNED: Unilateral twin ectopic pregnancy is extremely rare in natural pregnancy, with an incidence rate of only 1 in 200,000-2,500,000, represents a major health risk for reproductive-aged women, leading to even life-threatening complications. There is a lack of data on the prevalence of this rare disease after in-vitro fertilization-embryo transfer (IVF-ET) cycles.
UNASSIGNED: We present a case of a 51-year-old woman with rare unilateral twin ectopic pregnancy after frozen embryo transfer treated with bilateral salpingectomy, followed by a review of the literature.
UNASSIGNED: Twin ectopic pregnancy is a very rare type of pregnancy that requires a high index of suspicion to diagnose and treat early to prevent complications and maternal death.

The purpose of this study was to provide information on cysts of the anterior cruciate ligament (ACL) of the knee. This included an anatomical and radio-anatomical reminder of the cruciate ligaments of the knee, along with details of the epidemiology, etiopathogenesis, anatomical risk factors, clinical presentation, differential diagnosis, and treatment of ACL cysts. A retrospective analysis was conducted, involving the review of 7 radioclinical records from the medical imaging department of Ibn Sina University Hospital in Rabat, covering a period of 3 years (2018-2020), during which 7 cases of ACL cysts were diagnosed. The results revealed that ACL cysts are a rare condition, frequently detected incidentally during the assessment of meniscal lesions. Symptoms commonly include knee pain and limited mobility, and MRI is considered the diagnostic modality of for distinguishing between simple fluid-filled cysts and infiltrative cysts, as well as for ruling out other differential diagnoses. Treatment options include radio-guided infiltration puncture and arthroscopic resection.

Hematohidrosis is an extremely rare condition characterized by the oozing or secretion of blood through intact skin and mucosa, particularly through eccrine glands. Although there is not much literature available on the condition, examples of Hematohidrosis include the crying and sweating of blood. The fluid may have a bloody tinge or may be frank blood. The anomaly has no identifiable etiology, and patients generally present in a good state of health. In this report, we present a 19-year-old female who had weekly occurrences of bloody diaphoresis that had been present consistently for one year. During her presentation at the hematology clinic, she was investigated thoroughly for alternative causes, but none were found. The patient was diagnosed with hematohidrosis and was offered treatment with propranolol, which she declined. She continues to follow up routinely in the hematology clinic with persistent symptoms.

UNASSIGNED: This paper represents a portion of the findings from one of the first research studies eliciting the lived experience of adults with an early diagnosis of Phenylketonuria (PKU) living in Ireland. Ireland has one of the highest prevalence rates of PKU in Europe, however, little is known about the experience of Irish adults with PKU. Furthermore, Ireland is one of the first countries in the world to introduce neonatal screening followed by the introduction of long-term dietary therapy over 50 years ago. This study presents the first comprehensive assessment of the lived experience of Irish adults with PKU on long term dietary therapy.
UNASSIGNED: Narrative data was collected from eleven self-selected participants, using semi-structured interviews. The interviews were divided into five sections focused on eliciting a holistic understanding of the lived experience of adults with PKU living in Ireland. Thematic analysis was guided by Colaizzi\'s Framework (1978) in conjunction with NVivo qualitative data analysis software.
UNASSIGNED: Findings from the original research encompassed a broad understanding of the lived experience of adults with PKU living in Ireland, including factors influencing dietary therapy and managing PHE blood levels. The themes being discussed within this article are those which appear to be least represented within current literature: living with PKU, including reproductive health, the importance of self-management and establishing routine, support networks in adulthood and concerns regarding aging with PKU.
UNASSIGNED: It was evident from the findings that a diagnosis of PKU can influence how adults with PKU may experience aging and their own mortality. These findings offer new insight into the vulnerability attached to the experience of aging with PKU and may be beneficial to advocacy groups and for future development of policy and practice.

BACKGROUND: Reduction en masse (REM) is a rare condition following manual inguinal hernia (IH) reduction in which a hernia sac is reduced back into the preperitoneal space with a loop of the bowel incarcerated at the neck of the sac. It resembles successful manual reduction and may thus be overlooked easily. We herein report an infantile case of REM of an IH that was successfully treated laparoscopically.
METHODS: A 10-month-old boy with a surgical history of bilateral open IH repair at 4 months old presented with a bulge in his left groin and vomiting. A left incarcerated recurrent IH was suspected, and manual reduction was performed. The hernia was apparently reduced successfully, but abdominal distention and vomiting persisted. He was admitted for further observation due to the symptoms. On day 2 after admission, abdominal X-ray showed extensive small bowel obstruction (SBO). Enhanced computed tomography (CT) revealed protrusion of the small bowel with a closed-loop in the left groin. A closed-loop SBO due to postoperative adhesion or an internal hernia was suspected. To assess the etiology of SBO, emergent laparoscopic exploration with hernia repair was planned. Laparoscopy revealed REM of the left incarcerated IH with a thickened peritoneum at the neck of the sac. Laparoscopic reduction was performed, and the incarcerated small bowel showed no signs of ischemia. The hernia sac was not associated with the previously ligated processes vaginalis, which had been closed by a previous Potts\' procedure. It was located at the inside of the processes vaginalis. The sac was successfully closed by laparoscopic percutaneous extraperitoneal closure procedures, and iliopubic tract repair was also performed via the previous inguinal incision. The postoperative course was uneventful.
CONCLUSIONS: Pediatric IH is due to the patent processes vaginalis, and REM is extremely rare. Laparoscopic surgery for REM is a relatively common and useful approach for the diagnosis and treatment of adults. In our infantile case, the laparoscopic approach was similarly effective for both investigating the cause of SBO and performing high ligation of the sac for this rare condition with IH.

A 29-year-old man developed subacute posttraumatic ascending myelopathy 5 days after a spinal cord injury. He developed a fever and a blood culture showed an Alkaligenes spp. infection. Despite antibiotic and high-dose corticosteroid therapy, same neurological deficits persisted, and a follow-up MRI showed atrophy and swelling in the cervical cord.