Macrodactyly is a rare congenital limb difference manifesting as an overgrowth of one or more fingers or toes. The pathological process affects all tissues of the ray in the hand or foot. The enlargement can significantly alter the limb\'s appearance and impair its function. The role of a pediatrician is to distinguish isolated macrodactyly from syndromic conditions (including PIK3CA-Related Overgrowth Spectrum) or mimicking conditions to enable early interdisciplinary consultation and treatment planning. The psychological stigma associated with this often disfiguring condition necessitates support for patients and their family. We present a practical guide for physicians who might be the first to raise suspicion of macrodactyly and initiate further diagnostics to achieve adequate treatment and support for children and caregivers.

Activating mutation of PIK3CA is linked with cases of overgrowth syndromes and belongs to the PIK3CA-related overgrowth spectrum (PROS). Mutations in this gene are associated with vascular malformations, brain abnormalities, and an increased risk for certain tumors. We report the case of a newborn girl, preterm at 34 weeks of gestation, referred to our center for atypical necrotizing enterocolitis (NEC). At laparotomy, the appearance of the intestinal tract was described as puffy, cauliflower-like with a dark purplish coloration. Subsequently, the colostomy was described as having a consistent proliferative appearance. Medical treatment with sirolimus resulted in minimal improvement. There are no reported cases in the literature of association between NEC and PIK3CA mutation. It is possible that PIK3CA mutation, including the related vascular anomalies, plays a role in the pathogenesis of NEC with this condition.

BACKGROUND: The evaluation of electronic patient-reported outcomes (ePROs) is increasingly being used in clinical studies of patients with cancer and enables structured and standardized data collection in patients\' everyday lives. So far, few studies or analyses have focused on the medical benefit of ePROs for patients.
OBJECTIVE: The current exploratory analysis aimed to obtain an initial indication of whether the use of the Consilium Care app (recently renamed medidux; mobile Health AG) for structured and regular self-assessment of side effects by ePROs had a recognizable effect on incidences of unplanned consultations and hospitalizations of patients with cancer compared to a control group in a real-world care setting without app use. To analyze this, the incidences of unplanned consultations and hospitalizations of patients with cancer using the Consilium Care app that were recorded by the treating physicians as part of the patient reported outcome (PRO) study were compared retrospectively to corresponding data from a comparable population of patients with cancer collected at 2 Swiss oncology centers during standard-of-care treatment.
METHODS: Patients with cancer in the PRO study (178 included in this analysis) receiving systemic therapy in a neoadjuvant or noncurative setting performed a self-assessment of side effects via the Consilium Care app over an observational period of 90 days. In this period, unplanned (emergency) consultations and hospitalizations were documented by the participating physicians. The incidence of these events was compared with retrospective data obtained from 2 Swiss tumor centers for a matched cohort of patients with cancer.
RESULTS: Both patient groups were comparable in terms of age and gender ratio, as well as the distribution of cancer entities and Joint Committee on Cancer stages. In total, 139 patients from each group were treated with chemotherapy and 39 with other therapies. Looking at all patients, no significant difference in events per patient was found between the Consilium group and the control group (odds ratio 0.742, 90% CI 0.455-1.206). However, a multivariate regression model revealed that the interaction term between the Consilium group and the factor \"chemotherapy\" was significant at the 5% level (P=.048). This motivated a corresponding subgroup analysis that indicated a relevant reduction of the risk for the intervention group in the subgroup of patients who underwent chemotherapy. The corresponding odds ratio of 0.53, 90% CI 0.288-0.957 is equivalent to a halving of the risk for patients in the Consilium group and suggests a clinically relevant effect that is significant at a 2-sided 10% level (P=.08, Fisher exact test).
CONCLUSIONS: A comparison of unplanned consultations and hospitalizations from the PRO study with retrospective data from a comparable cohort of patients with cancer suggests a positive effect of regular app-based ePROs for patients receiving chemotherapy. These data are to be verified in the ongoing randomized PRO2 study (registered on ClinicalTrials.gov; NCT05425550).
BACKGROUND: ClinicalTrials.gov NCT03578731; https://www.clinicaltrials.gov/ct2/show/NCT03578731.
UNASSIGNED: RR2-10.2196/29271.

UNASSIGNED: Learning curves (LC) are typically defined by the number of different spinal procedures surgeons must perform before becoming \"proficient,\" as demonstrated by reductions in operative times, estimated blood loss (EBL), length of hospital stay (LOS), adverse events (AE), fewer conversions to open procedures, along with improved outcomes. Reviewing 12 studies revealed LC varied widely from 10-44 cases for open vs. minimally invasive (MI) lumbar diskectomy, laminectomy, transforaminal lumbar interbody fusion (TLIF), anterior lumbar interbody fusion (ALIF), and oblique/extreme lateral interbody fusions (OLIF/XLIF). We asked whether the risks of harm occurring during these LC could be limited if surgeons routinely utilized in-person/intraoperative mentoring (i.e., via industry, academia, or well-trained colleagues).
UNASSIGNED: We evaluated LC for multiple lumbar operations in 12 studies.
UNASSIGNED: These studies revealed no LC for open vs. MI lumbar diskectomy. LC required 29 cases for MI laminectomy, 10-44 cases for MI TLIF, 24-30 cases for MI OLIF, and 30 cases for XLIF. Additionally, the LC for MI ALIF was 30 cases; one study showed that 32% of major vascular injuries occurred in the first 25 vs. 0% for the next 25 cases. Shouldn\'t the risks of harm to patients occurring during these LC be limited if surgeons routinely utilized in-person/intraoperative mentoring?
UNASSIGNED: Twelve studies showed that the LC for at different MI lumbar spine operations varied markedly (i.e., 10-44 cases). Wouldn\'t and shouldn\'t spine surgeons avail themselves of routine in-person/intraoperative mentoring to limit patients\' risks of injury during their respective LC for these varied spine procedures ?

The PI3K enzymes modify phospholipids to regulate cell growth and differentiation. Somatic variants in PI3K are recurrent in cancer and drive a proliferative phenotype. Somatic mosaicism of PIK3R1 and PIK3CA are associated with vascular anomalies and overgrowth syndromes. Germline PIK3R1 variants are associated with varying phenotypes, including immunodeficiency or facial dysmorphism with growth delay, lipoatrophy, and insulin resistance associated with SHORT syndrome. There has been limited study of the molecular mechanism to unify our understanding of how variants in PIK3R1 drive both undergrowth and overgrowth phenotypes. Thus, we compiled genomic variants from cancer and rare vascular anomalies and sought to interpret their effects using an unbiased physics-based simulation approach for the protein complex. We applied molecular dynamics simulations to mechanistically understand how genetic variants affect PIK3R1 and its interactions with PIK3CA. Notably, iSH2 genetic variants associated with undergrowth destabilize molecular interactions with the PIK3CA receptor binding domain in simulations, which is expected to decrease activity. On the other hand, overgrowth and cancer variants lead to loss of inhibitory interactions in simulations, which is expected to increase activity. We find that all disease variants display dysfunctions on either structural characteristics or intermolecular interaction energy. Thus, this comprehensive characterization of novel mosaic somatic variants associated with two opposing phenotypes has mechanistic importance and biomedical relevance and may aid in future therapeutic developments.

OBJECTIVE: To evaluate the health-related quality of life and associated risk factors for Multiple Osteochondromas patients.
METHODS: A cross-sectional, observational study was conducted from May to December 2022 during the routine visit to the referral center for rare skeletal disorders. All patients with Multiple Osteochondromas aged ≥ 3 years were included. EuroQol 5-dimension questionnaires, and demographic, clinical, and surgical history data were collected. Descriptive statistics, Fisher\'s exact test, One-sample t-test, Spearman\'s correlation, and multiple linear and logistic regression were performed to analyze the data. Results are reported following STROBE guidelines.
RESULTS: A total of 128 patients were included in the study, with a mean age of 14 [SD, 10] years. The mean EQ-5D Index Value was 0.863 [SD, 0.200] and the EQ-VAS was 84 [SD, 19] with a positive correlation between two scores [r = 0.541, p < 0.001]. Patients frequently referred problems in pain/discomfort [78.8%], anxiety/depression [50%], and usual activities [38.8%] dimensions. Increasing age was the common risk factor for health-related quality of life [p < 0.000], as well as Index Value and VAS scores were significantly lower in surgical patients [p = 0.001 and p < 0.001, respectively].
CONCLUSIONS: Increasing age and surgical procedures were found highly associated with reduced health-related quality of life in Multiple Osteochondromas patients. Our findings provide relevant information to support the establishment of patient-centered healthcare pathways and pave the way for further research into medical and non-medical therapeutic strategies for these patients.

OBJECTIVE: To evaluate the psychometric properties of the AL-PROfile, a patient-reported outcome measure combining the Patient-Reported Outcomes Measurement Information System (PROMIS)-29, two items from PROMIS Cognitive Function, and select Patient-Reported Outcomes version of the Common Terminology Criteria for Adverse Events (PRO-CTCAE) items.
METHODS: Content validity was assessed through cognitive debriefing interviews of 20 patients who completed the AL-PROfile (Study 1). Study 2 involved 297 participants who completed the AL-PROfile and Medical Outcomes Study 36-item Short-Form Health Survey (SF-36). Reliability (internal consistency and test-retest reliability) and validity (convergent and discriminant validity, known groups validity by stage/organ involvement) were calculated.
RESULTS: Study 1 participants found the AL-PROfile straightforward confirming the relevance of the included content. Some felt that certain questions were not related to their amyloidosis experience. Study 2 demonstrated acceptable internal consistency for all domains/items except PROMIS Cognitive Function and acceptable test-retest reliability for all except PROMIS Cognitive Function and PRO-CTCAE nausea. Large correlations were seen for the same domain across measures while correlations for divergent domains within a measure and different domains across different measures were small. The PRO-CTCAE items showed small to medium correlations with each other and with PROMIS and SF-36 domains. Stage was associated with physical function, fatigue, social roles, swelling, and shortness of breath scores.
CONCLUSIONS: The AL-PROfile has acceptable reliability and validity for use in systemic light chain amyloidosis patients.

UNASSIGNED: The role of obesity as an independent risk factor for increased complications following reverse shoulder arthroplasty (RSA) continues to generate debate. While no standardized body mass index (BMI) cutoff values for shoulder arthroplasty exist, many surgeons are concerned about the potential for poor outcomes and decreased range of motion (ROM) in patients with a high BMI. The purpose of this study was to compare functional outcomes in obese and nonobese patients preoperatively and at short-term follow-up after RSA.
UNASSIGNED: A retrospective review was performed of a prospectively maintained, multicenter database of primary RSAs performed by 14 surgeons between 2015 and 2019 with minimum 2-year follow-up. A total of 245 patients met the study criteria, including 111 obese (BMI >30) and 134 nonobese (BMI <30) patients. Patient-reported outcomes (PROs) as well as ROM measurements were compared between the 2 groups.
UNASSIGNED: At baseline, obese patients had significantly lower American Shoulder and Elbow Surgeons (36.6 vs. 42.0, P = .014), Western Ontario Osteoarthritis of the Shoulder scores (33.1 vs. 37.8, P = .043), external rotation at 90° (19° vs. 28°, P = .007), internal rotation (IR) spinal level (L5 vs. L4, P = .002), and belly press strength (P = .003) compared to the nonobese cohort. There were no statistical differences in 2-year outcomes (PROs, ROM, and strength) other than a worse IR (spinal level) in the low BMI group (L4 vs. L3, P = .002). In linear regression analyses controlling for confounding variables, increasing BMI was negatively correlated with preoperative external rotation (B = -0.591, P = .034) and preoperative IR spinal level (B = 0.089, P = .002). Increasing BMI was not correlated with postoperative external rotation at 90° (B = 0.189, P = .490) but was associated with worse postoperative IR by spinal level (B = 0.066, P = .043).
UNASSIGNED: Obese patients have greater restrictions in external and internal rotation as well as American Shoulder and Elbow Surgeons and Western Ontario Osteoarthritis of the Shoulder scores at baseline prior to RSA. However, there are no major differences in postoperative PROs or ROM measurements between obese and nonobese patients apart from a worse active IR by spinal level in the obese group (L4 vs. L3, P = .002). This study suggests that an RSA procedure does not need to be restricted solely based on BMI.

BACKGROUND: Despite the increasing utilization of sphincter and/or organ-preservation treatment strategies, many patients with low-lying rectal cancers require abdominoperineal resection (APR), leading to permanent ostomy. Here, we aimed to characterize overall, sexual-, and bladder-related patient-reported quality of life (QOL) for individuals with low rectal cancers. We additionally aimed to explore potential differences in patient-reported outcomes between patients with and without a permanent ostomy.
METHODS: We distributed a comprehensive survey consisting of various patient-reported outcome measures, including the FACT-G7 survey, ICIQ MLUTS/FLUTS, IIEF-5/FSFI, and a specific questionnaire for ostomy patients. Descriptive statistics and univariate comparisons were used to compared demographics, treatments, and QOL scores between patients with and without a permanent ostomy.
RESULTS: Of the 204 patients contacted, 124 (60.8%) returned completed surveys; 22 (18%) of these had a permanent ostomy at the time of survey completion. There were 25 patients with low rectal tumors (≤5 cm from the anal verge) who did not have an ostomy at the time of survey completion, of whom 13 (52%) were managed with a non-operative approach. FACTG7 scores were numerically lower (median 20.5 vs. 22, p = 0.12) for individuals with an ostomy. Sexual function measures IIEF and FSFI were also lower (worse) for individuals with ostomies, but the results were not significantly different. MLUTS and FLUTS scores were both higher in individuals with ostomies (median 11 vs. 5, p = 0.06 and median 17 vs. 5.5, p = 0.01, respectively), suggesting worse urinary function. Patient-reported ostomy-specific challenges included gastrointestinal concerns (e.g., gas, odor, diarrhea) that may affect social activities and personal relationships.
CONCLUSIONS: Despite a limited sample size, this study provides patient-centered, patient-derived data regarding long-term QOL in validated measures following treatment of low rectal cancers. Ostomies may have multidimensional negative impacts on QOL, and these findings warrant continued investigation in a prospective setting. These results may be used to inform shared decision making for individuals with low rectal cancers in both the settings of organ preservation and permanent ostomy.

With better survival rates for patients diagnosed with cancer, more attention has been focused on future risks, like fertility decline due to gonadotoxic treatment. In this regard, the emphasis during counselling regarding possible preservation options is often on the treatment itself, meaning that the medical and emotional needs of patients regarding counselling, treatment, and future fertility are often overlooked. This review focuses on patient-reported outcomes (PROs) and patient experiences regarding fertility preservation (FP)-among adolescents and young adults (AYAs) with cancer. A systematic review of the literature, with a systematic search of online databases, was performed, resulting in 61 selected articles. A quality assessment was performed by a mixed methods appraisal tool (MMAT). Based on this search, three important topics emerged: initiating discussion about the risk of fertility decline, acknowledging the importance of future fertility, and recognizing the need for more verbal and written patient-specific information. In addition, patients value follow-up care and the opportunity to rediscuss FP and their concerns about future fertility and use of stored material. A clear FP healthcare pathway can prevent delays in receiving a referral to a fertility specialist to discuss FP options and initiating FP treatment. This patient-centered approach will optimize FP experiences and help to establish a process to achieve long-term follow up after FP treatment.