FIRST REPORTED CASE OF MAJEED SYNDROME FROM PAKISTAN

Majeed syndrome, characterized by chronic recurrent multifocal osteomyelitis and congenital dyserythropoeitic anemia, is a rare disease reported in children. We report a case of Majeed Syndrome in a 9-year-old boy, born of consanguineous marriage reporting to us for treatment of anemia, requiring blood transfusion. He underwent below-knee-amputation due to unresolving recurrent osteomyelitis at multiple sites. There was history of pain insensitivity and fever during hot weather as well. His interleukin-6 levels were raised. This is the first case of Majeed Syndrome from Pakistan and first in the world with Hereditary Sensory Autonomic Neuropathy type 4 as an associated feature.

EP.FRI.596 A Tale of Two Ultrasounds

Background Testicular torsion is a common cause of acute testicular pain, which requires immediate investigation and treatment. We describe a unique presentation of testicular torsion, which required the operating surgeon to assess the viability of a clinically dead testis through surgical manipulation, 16 hours after onset of pain. Case Report A 19 year old male presented with a 12 hour history of pain and swelling in the left scrotum. Examination revealed the left testes was hard, swollen and tender with a palpable spermatic cord. Clinical diagnosis of testicular mass or epididymo-orchitis was suggested and scrotal ultrasound was organised. This reported no blood flow in the left testis, and so torsion was suspected. Patient was taken immediately to theatre. Examination was performed under general anaesthetic, which revealed a hard, swollen testis, with no torsion clinically. Midline scrotal incision was made. On visual examination, left testis was black and hard, but there was no obvious torsion in the cord. However, during manipulation, the testis softened and started to change colour, eventually becoming dusky. A small incision into the testis showed bright red blood, and the decision was made to replace the testis and fix both testes. The patient made an excellent recovery post-operatively. Repeat ultrasound showed return of testicular vascularity. Conclusion This case showcases the importance of considering salvage in patients who have presented even after the generally accepted 6-8 hour time window. It also highlights the value of an experienced surgeon’s judgement in unusual presentations and with unexpected events intraoperatively.

A Retrospective Study of Foot Biomechanics and Injury History in Varsity Football Athletes at the U.S. Naval Academy

ABSTRACT Introduction The six-item Foot Posture Index (FPI-6) was previously developed as an assessment tool to measure the posture of the foot across multiple segments and planes. It was derived from a criterion-based observational assessment of six components of each foot during static standing. The association between abnormal foot posture and musculoskeletal injuries remains unclear and is in of need further exploration. Hypothesis/Purpose The purpose of this study was to assess the association between foot biomechanics and self-reported history of musculoskeletal pain or injury. Study Design Retrospective, cross-sectional study of collegiate football players at the U.S. Naval Academy. Materials and Methods For each athlete, data were recorded on height, weight, self-reported history of pain or injury, and foot posture, which was measured using a FPI-6 with each item measuring the degree of pronation/supination. The primary outcome was each athlete’s maximum deviation from neutral posture across the six-item index (FPImax). The prespecified primary analysis used generalized linear models to measure the association between FPImax and self-report history of pain or injury. Exploratory analyses measured the association using penalized regression (L1-norm) and a type of tree-based ensemble known as extreme gradient boosting (XGBoost). Results Data were collected on 101 athletes, 99 of whom had sufficient body mass index (BMI) data to be included for analysis. Among the 99 athletes, higher FPImax was associated with a prior history of musculoskeletal pain (odds ratio [OR] 1.15, 95% confidence interval [CI] 0.97 to 1.35), although the sample size was too small for the association to be significant with 95% CI (P = .107). FPImax was not associated with a history of knee injury/pain (OR 0.98, 95% CI 0.83 to 1.15, P = .792), nor with a history of ankle/foot injury or pain (OR 1.04, 95% CI 0.90 to 1.21, P = .599). From the L1-penalized model, the FPI components with the strongest linear associations were the L6, R2, R1-squared, and FPImax. From the XGBoost model, the most important variables were FPItotal, BMI, R1, and R2. Conclusions The U.S. Naval Academy football players whose foot postures deviated from neutral were more likely to have reported a previous history of musculoskeletal pain. However, this deviation from normal was not strongly associated with a specific history of pain or injury to the knee, ankle, or foot. Clinical Relevance The information ascertained from this study could be used to better inform clinicians about the value of the FPI in predicting or mitigating injuries for varsity football athletes.

The correlation between the labrum size and the labral tear in asymptomatic volunteers and symptomatic patients

Background Some studies have proved that labrum size is associated with symptoms in patients with hip labral tear. The correlation between the labrum size and the labral tear in asymptomatic volunteers and symptomatic patients is still uncertain. Methods The volunteers with no history of pain, injury, or surgery were recruited from the community. Patients who were diagnosed with labral tear and underwent hip arthroscopic surgery in this period in our hospital were also included. The length and height of the acetabular hip labrum were measured at three separate anatomic sites through magnetic resonance imaging (MRI) along the acetabular rim: lateral, anterior, and anteroinferior. Results A total of 70 volunteers (125 hips) and 70 patients (70 hips) were included in this study. Sixty-six (52.8%) hips had labral tears in all 125 hips of volunteers. The lateral labral length of volunteers with labral tears was significantly larger than those without labral tears (P < .05). In 14 volunteers with unilateral labral tears, length of lateral, anterior, and anteroinferior labrum in the side with tear were significantly larger than normal on the other side. The anterior labral height of volunteers was significantly larger than that of patients (P < .05). Conclusions In conclusion, asymptomatic volunteers with larger length of lateral, anterior, and anteroinferior labrum are more prone to present with labral tears. Symptomatic patients with labral tears exhibited thinner anterior labrum. Further studies are warranted to explore the mechanisms of labral tears in asymptomatic people and validate the use of labral size as a guide to differential diagnosis and treatment.

Bisphosphonate Therapy in the Management of Symptomatic Melorheostosis of Tibia

Introduction: Melorheostosis is a rare sclerosing bone disease characterized by linear hyperostotic bone dysplasia with its radiological appearance as melting candle wax dripping by its side. It usually affects long bones, especially the lower limb. The exact cause of the disease has not been clearly explained though many theories are available. It is insidious in onset and symptoms being pain, deformity, and joint stiffness. Although there is no definitive treatment, the administration of bisphosphonates dramatically reduces pain and improves the patient clinically. Case Report: We described a case of a 28-year-old female who presented with a history of pain and swelling in her left leg for the past 2 years. The onset of complaints was insidious. On physical examination, there was tender swelling over the shaft of the tibia with irregular borders. Knee and ankle range of movements were normal. Radiographs showed hyperostosis of the proximal two-thirds of the tibia of the left leg with a flowing candle wax appearance. The patient was treated with a single dose of intravenous zolendronic acid and physical therapy. The patient had dramatic alleviation of pain without the need for any further treatment till 1 year follow-up. Conclusion: Although there is no specific treatment available for this disease, the intravenous infusion of zolendronic acid has dramatically improved the patient clinically. Keywords: Melorheostosis, flowing candle wax, bisphosphonates, zolendronic acid.

Fournier’s gangrene in females: A rare entity

Fournier’s gangrene is a form of necrotizing fascitis with abrupt onset of rapidly fulminating genital gangrene of idiopathic origin and gangrene up to deep fascia. It occurs usually in patients with urogenital infections and comorbidities such as diabetes, immunosuppression, or even trauma. Here, we present one such case of an 86-year-old female presenting with a history of pain and purulent discharge from the perianal region for 5 days. On examination, a wound of 20 × 15 cm perineal region extending up to the gluteal region posteriorly and labia majora anteriorly. The patient was planned for debridement under spinal anesthesia on an emergency basis followed by regular dressing and antibiotic therapy. The peri-operative period was uneventful. Along with surgical management, the patient was managed medically by control of sugars, treating sepsis with appropriate antibiotics. The patient recovered from sepsis, and the wound showed granulation tissue after 1 week of serial debridement. The wound was closed with a skin graft at a later date. Fournier’s gangrene should be kept as a differential diagnosis in females with perineal abscesses or necrotizing fascitis in females.

Primary extraskeletal osteosarcoma of sigmoid mesocolon: a case report and a review of the literature

Background Extraskeletal osteosarcoma (ESOS) is a rare mesenchymal malignancy, which produces osteoid, bone, or chondroid material and is located in the soft tissue without attachment to skeletal bones and periosteum. One of the things that ESOS originated from mesentery is much rarer. Case presentation A 75-year female had a history of pain in the left lower abdomen for more than 4 months. Abdominal computerized tomography (CT) and magnetic resonance imaging revealed a large, irregular, and solid-cystic mass (largest diameter was 11.5 cm). The tumor was radically removed during an open operation. It was composed of abundant osteoid and polyhedral-shaped tumor cells with high atypia and high mitotic activity microscopically. The final pathological diagnosis was osteoblastic osteosarcoma, arising from the sigmoid mesocolon with negative margins. A 9-month follow-up by CT exhibited signs of peritoneal metastasis. Conclusions Given the rarity of cases of mesenteric ESOS, diagnosis mainly depended on pathology findings or should be taken into consideration when the mesenteric mass was found. Its most effective treatment had not been determined, with surgical excision being generally accepted. Ensuring negative surgical margins may be an important factor affecting prognosis.

The place of pain in the structure of neurological symptoms in patients with multiple sclerosis and the characteristics that affect the prioritization of pain by the patient

Objective — to evaluate the place of pain in the structure of neurological symptoms from the patient’s point of view in patients with multiple sclerosis and determine the characteristics of the MS, pain syndromes and social factors that affect the perception of pain as a most disturbing symptom in patients with MS. Methods and subjects. 104 patients with a confirmed diagnosis of multiple sclerosis and existing pain syndromes were examined. An analysis of medical records, neurological and general medical examination, medical history and history of pain, as well as life history with clarification of education background and religiousness were conducted. VAS and SF‑MPQ2 questionnaires were used to assess the characteristics of pain syndromes. Patients were asked which multiple sclerosis syndrome disturbed them the most. Results. Among the examined patients with MS, pain was the most disturbing syndrome for 41.3 % of patients. Gender and religiosity did not affect this perception. There was a tendency to more frequent perception of pain as the syndrome that disturbed the most among patients with lower levels of education, but this trend was not statistically significant (p = 0.14). Among patients with pain as the syndrome that disturbs them the most, there is a larger proportion of patients with a small number of MS relapses (1 — 10): 65.1 ± 7.3 % vs. 44.3 ± 6.4 %, respectively, p = 0.04. Among patients who considered pain to be the first manifestation of MS, pain was considered to be the most disturbing syndrome more often (p = 0.02). The results of pain characteristics comparison based on SF‑MPQ‑2 results showed significantly higher rates of continuous, intermittent pain components of pain in patients with pain as the most disturbing syndrome: 27.0 [18.5; 36.5] and 21.0 [10.0; 33.0] point, p = 0.04; 20.0 [13.0; 30.0] and 12.0 [4.0; 26.0] points, p = 0.03, respectively. The VAS scores of strongest pain for the last month where higher in the group of patients whose pain was the most disturbing syndrome — 8 [7; 9] points than in the group of patients whose pain was not the most disturbing syndrome — 6 [4; 8] points (p = 0.0001). The proportion of patients with pain, as the most disturbing symptom of MS, was 2.2 times higher than the proportion of patients for whom pain was not the most disturbing symptom of MS in the group with the strongest pain intensity for the last month of 8 — 10 points: 67.4 ± 7.1 % vs. 31.1 ± 5.9 %, respectively (p = 0.0003). A similar difference was found when comparing the distribution of patients by the intensity of average pain per month, where the proportion of patients with high‑intensity average pain per month is more than 2 times higher among patients who consider pain the syndrome that disturbing them the most in the structure of MS. Conclusions. More than a third of MS patients consider pain as a most disturbing symptom in the structure of this disease. Such an assessment of pain does not depend on gender or religiosity, however, may have some connection with the education level. Pain syndromes, as the most disturbing symptom of MS, will be more common among people in the first years of the disease, with a small number of MS relapses. While assessing the characteristics of pain structure, we found that among patients who consider pain as a most disturbing syndrome there were higher characteristics of continuous, intermittent components of pain, without differences in affective and neuropathic components. An important factor in this perception is the intensity of the strongest pain per month, as well as the average intensity of pain per month.

Comorbidities are risk factors for hospitalization and serious COVID-19 illness in children and adults with sickle cell disease

Patients with sickle cell disease (SCD) are at high risk of developing serious infections, therefore, understanding the impact that severe acute respiratory syndrome coronavirus 2 infection has on this population is important. We sought to identify factors associated with hospitalization and serious COVID-19 illness in children and adults with SCD.We established the international SECURE-SCD Registry to collect data on patients with SCD and COVID-19 illness. We used multivariable logistic models to estimate the independent effects of age, sex, genotype, hydroxyurea, and SCD-related and -nonrelated comorbidities on hospitalization, serious COVID-19 illness, and pain as a presenting symptom during COVID-19 illness. As of 23 March 2021, 750 COVID-19 illness cases in patients with SCD were reported to the registry. We identified history of pain (relative risk [RR], 2.15; P &lt; .0001) and SCD heart/lung comorbidities (RR, 1.61; P = .0001) as risk factors for hospitalization in children. History of pain (RR, 1.78; P = .002) was also a risk factor for hospitalization in adults. Children with history of pain (RR, 3.09; P = .009), SCD heart/lung comorbidities (RR, 1.76; P = .03), and SCD renal comorbidities (RR, 3.67; P &lt; .0001) and adults with history of pain (RR 1.94, P = .02) were at higher risk of developing serious COVID-19 illness. History of pain and SCD renal comorbidities also increased risk of pain during COVID-19 in children; history of pain, SCD heart/lung comorbidities, and female sex increased risk of pain during COVID-19 in adults. Hydroxyurea showed no effect on hospitalization and COVID-19 severity, but it lowered the risk of presenting with pain in adults during COVID-19.

Introduction to pain

When caring for a child who is in pain in a palliative care setting, the extent and intensity of the physical components of pain represent only one of many important aspects that need to be considered. How does the child understand their pain? Are they afraid of the actual pain or the future pain? How do they interpret their disease? Can they control or cope with the pain? It is of fundamental importance not only to help the child to cope with their condition, but also to help them through the disease by building a trustworthy and interactive relationship between the patient, their family, and their peers. One must try to carefully monitor the child’s level of distress, their defense strategies, their coping strategies, and the attitudes and opportunities that they encounter in their environment (e.g. encouragement, active participation in activities). All of this takes place within a biopsychosocial and holistic model of care that ‘reflects modern society’s attempt to face up to the reality of death by introducing dying and bereavement into the midstream of life.’ It personalizes care by adopting a relationship-centered approach and, with the collaboration of all caregivers, it humanizes care. In this chapter we first explore the history of pain in medicine and then develop our actual knowledge about pain. Finally, we shall establish some guidelines for understanding and analyzing the complaint of the child in palliative care.