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Endoscopy Jul 2024
Topics: Social Media; Humans; Societies, Medical; Endoscopy, Gastrointestinal
PubMed: 38936347
DOI: 10.1055/a-2290-6271 -
International Journal of Surgery Case... Jun 2024Pierre Robin Sequence (PRS) is a rare and complex condition that often necessitates the collaboration of a full medical team from various disciplines to save the lives...
INTRODUCTION AND IMPORTANCE
Pierre Robin Sequence (PRS) is a rare and complex condition that often necessitates the collaboration of a full medical team from various disciplines to save the lives of babies with this genetic mutation, characterized by three clinical manifestations: glossoptosis, micrognathia, and cleft palate. Treatment primarily involves freeing upper airway obstructions and enhancing nutrition to allow the babies to lead a normal life. The lip-tongue adhesion procedure has been identified in medical literature as the recommended approach to addressing the issues associated with Pierre Robin sequence, and this method was successfully adopted in this case.
CASE PRESENTATION
2.5 kg, a newborn male baby with an abnormal position of the tongue and the inability to breastfeed and feed normally, without any medical, family, or social history. Following an examination, it was discovered that the baby had a posterior position of the tongue, micrognathia, and a cleft palate, leading to a diagnosis of Pierre Robin Sequence (Figs. 1, 2). Preparations for the baby's surgery have commenced. The baby was solely fed intravenously and provided with an oxygen mask for 25 days until all necessary consultations were completed and the baby's readiness for surgery and general anesthesia was confirmed. The surgical plan involved attaching the tongue to the lower lip to enhance the tongue's muscular strength, addressing the posterior position issue, and delaying the palate repair until the age of 1.5 years.
CLINICAL DISCUSSION
PRS is a clinical entity characterized by the triad of mandibular hypoplasia (small jaw), glossoptosis (hypotonic, retracted tongue) and respiratory obstruction that require a multidisciplinary team for initial evaluation and management and maintenance care. TLA is a simple and effective procedure for increasing the cross-sectional area of oropharyngeal port.
CONCLUSION
Handling airway obstruction in Pierre Robin Sequence involves various factors, and there is no universal treatment that can address all cases. Appropriate airway management strategies and feeding programs are essential for each individual with PRS. Our review highlights that TLA is a straightforward surgical procedure with minimal or no short-term complications. TLA should be considered as the primary surgical intervention when relief is needed.
PubMed: 38936141
DOI: 10.1016/j.ijscr.2024.109932 -
International Journal of Surgery Case... Jun 2024The incidence of ulcerative colitis is rising among Asian population. Massive bleeding per rectum is an uncommon, but serious, complication of UC accounting for...
INTRODUCTION
The incidence of ulcerative colitis is rising among Asian population. Massive bleeding per rectum is an uncommon, but serious, complication of UC accounting for 0.1-1.4 % of admissions.
CASE PRESENTATION
A 22-year-old male, reported persistent abdominal pain, bloody diarrhea, and intermittent vomiting for one week. Physical examination revealed signs of dehydration and pallor. Laboratory tests showed elevated inflammatory markers. CT and colonoscopy confirmed ulcerative colitis, refractory to corticosteroids, leading to a subtotal colectomy followed by Ileal Pouch-Anal Anastomosis. The patient was symptom free at a 24-month follow-up.
DISCUSSION
Bleeding that occurs during the initial stages of the disease or in cases where the diagnosis of ulcerative colitis hasn't been confirmed makes it challenging for patients to accept the need for extensive surgery and the creation of a stoma. Conservative procedures are advised in such settings.
CONCLUSION
Acute severe bleeding in ulcerative colitis is rare but demands a multidisciplinary approach for timely diagnosis and treatment. In resource and expertise limited situation, where patients are noncompliant to regular follow-ups surgical treatment can still be intervention of choice for these cases.
PubMed: 38936139
DOI: 10.1016/j.ijscr.2024.109901 -
International Journal of Surgery Case... Jun 2024Obturator hernias are rare, occur mainly in slender people and predominantly in females. Underlying pathology of the obturator hernia is a weakening of the obturator...
INTRODUCTION
Obturator hernias are rare, occur mainly in slender people and predominantly in females. Underlying pathology of the obturator hernia is a weakening of the obturator membrane. The obturator hernia is situated between the pubic and ischial bones and is therefore clinically occult. Patients predominantly present with symptoms of bowel obstruction, but can also present with sensory disturbance, leg pain and hip pain. Due to the usually delayed diagnosis, the obturator hernia is associated with increased morbidity and mortality.
CASE PRESENTATION
A 71-year-old female patient with hip pain underwent a protracted diagnostic work-up and was referred to the surgical department by the treating orthopedic surgeon. An incarcerated obturator hernia with a fistula in the adductor ligament was finally diagnosed via CT. The operation included laparoscopic reduction, hernia repair, open small bowel segment resection, local surgical exploration, lavage and antibiotic treatment. The primary hernia repair was performed by direct suture due to the contamination, and a post-primary mesh repair was indicated. However, after complete recovery and no remaining symptoms, the patient refused this despite the indication for definitive laparoscopic hernia repair.
DISCUSSION
Hip pain can have multiple causes. Taking physical characteristics into account can lead to the correct diagnostic pathway. The CT scan revealed the fistula which led to the laparoscopic surgery. Due to the intestinal damage and contamination, the surgical steps were adapted.
CONCLUSION
Obturator hernias should be considered as a reason for atypical symptoms in slender, older patients. Adequate surgical management can be chosen after correct diagnosis.
PubMed: 38936138
DOI: 10.1016/j.ijscr.2024.109945 -
Jornal Brasileiro de Nefrologia 2024Identifying risk factors for autosomal dominant polycystic kidney disease (ADPKD) progression is important. However, studies that have evaluated this subject using a...
INTRODUCTION
Identifying risk factors for autosomal dominant polycystic kidney disease (ADPKD) progression is important. However, studies that have evaluated this subject using a Brazilian sample is sparce. Therefore, the aim of this study was to identify risk factors for renal outcomes and death in a Brazilian cohort of ADPKD patients.
METHODS
Patients had the first medical appointment between January 2002 and December 2014, and were followed up until December 2019. Associations between clinical and laboratory variables with the primary outcome (sustained decrease of at least 57% in the eGFR from baseline, need for dialysis or renal transplantation) and the secondary outcome (death from any cause) were analyzed using a multiple Cox regression model. Among 80 ADPKD patients, those under 18 years, with glomerular filtration rate <30 mL/min/1.73 m2, and/or those with missing data were excluded. There were 70 patients followed.
RESULTS
The factors independently associated with the renal outcomes were total kidney length - adjusted Hazard Ratio (HR) with a 95% confidence interval (95% CI): 1.137 (1.057-1.224), glomerular filtration rate - HR (95% CI): 0.970 (0.949-0.992), and serum uric acid level - HR (95% CI): 1.643 (1.118-2.415). Diabetes mellitus - HR (95% CI): 8.115 (1.985-33.180) and glomerular filtration rate - HR (95% CI): 0.957 (0.919-0.997) were associated with the secondary outcome.
CONCLUSIONS
These findings corroborate the hypothesis that total kidney length, glomerular filtration rate and serum uric acid level may be important prognostic predictors of ADPKD in a Brazilian cohort, which could help to select patients who require closer follow up.
Topics: Humans; Polycystic Kidney, Autosomal Dominant; Male; Female; Disease Progression; Brazil; Glomerular Filtration Rate; Adult; Middle Aged; Risk Factors; Cohort Studies; Uric Acid; Retrospective Studies
PubMed: 38935976
DOI: 10.1590/2175-8239-JBN-2023-0040en -
JMIR Bioinformatics and Biotechnology May 2024The etiology of ischemic stroke is multifactorial. Several gene mutations have been identified as leading causes of cerebral autosomal dominant arteriopathy with...
BACKGROUND
The etiology of ischemic stroke is multifactorial. Several gene mutations have been identified as leading causes of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary disease that causes stroke and other neurological symptoms.
OBJECTIVE
We aimed to identify the variants of NOTCH3 and thrombophilia genes, and their complex interactions with other factors.
METHODS
We conducted a hierarchical cluster analysis (HCA) on the data of 100 patients diagnosed with ischemic stroke. The variants of NOTCH3 and thrombophilia genes were identified by polymerase chain reaction with confronting 2-pair primers and real-time polymerase chain reaction. The overall preclinical characteristics, cumulative cutpoint values, and factors associated with these somatic mutations were analyzed in unidimensional and multidimensional scaling models.
RESULTS
We identified the following optimal cutpoints: creatinine, 83.67 (SD 9.19) µmol/L; age, 54 (SD 5) years; prothrombin (PT) time, 13.25 (SD 0.17) seconds; and international normalized ratio (INR), 1.02 (SD 0.03). Using the Nagelkerke method, cutpoint 50% values of the Glasgow Coma Scale score; modified Rankin scale score; and National Institutes of Health Stroke Scale scores at admission, after 24 hours, and at discharge were 12.77, 2.86 (SD 1.21), 9.83 (SD 2.85), 7.29 (SD 2.04), and 6.85 (SD 2.90), respectively.
CONCLUSIONS
The variants of MTHFR (C677T and A1298C) and NOTCH3 p.R544C may influence the stroke severity under specific conditions of PT, creatinine, INR, and BMI, with risk ratios of 4.8 (95% CI 1.53-15.04) and 3.13 (95% CI 1.60-6.11), respectively (P<.05). It is interesting that although there are many genes linked to increased atrial fibrillation risk, not all of them are associated with ischemic stroke risk. With the detection of stroke risk loci, more information can be gained on their impacts and interconnections, especially in young patients.
PubMed: 38935968
DOI: 10.2196/56884 -
JMIR Formative Research Jun 2024Urinary incontinence (UI) affects millions of women with substantial health and quality-of-life impacts. Supervised pelvic floor muscle training (PFMT) is the...
BACKGROUND
Urinary incontinence (UI) affects millions of women with substantial health and quality-of-life impacts. Supervised pelvic floor muscle training (PFMT) is the recommended first-line treatment. However, multiple individual and institutional barriers impede women's access to skilled care. Evidence suggests that digital health solutions are acceptable and may be effective in delivering first-line incontinence treatment, although these technologies have not yet been leveraged at scale.
OBJECTIVE
The primary objective is to describe the effectiveness and safety of a prescribed digital health treatment program to guide PFMT for UI treatment among real-world users. The secondary objectives are to evaluate patient engagement following an updated user platform and identify the factors predictive of success.
METHODS
This retrospective cohort study of women who initiated device use between January 1, 2022, and June 30, 2023, included users aged ≥18 years old with a diagnosis of stress, urgency, or mixed incontinence or a score of >33.3 points on the Urogenital Distress Inventory Short Form (UDI-6). Users are prescribed a 2.5-minute, twice-daily, training program guided by an intravaginal, motion-based device that pairs with a smartphone app. Data collected by the device or app include patient-reported demographics and outcomes, adherence to the twice-daily regimen, and pelvic floor muscle performance parameters, including angle change and hold time. Symptom improvement was assessed by the UDI-6 score change from baseline to the most recent score using paired 2-tailed t tests. Factors associated with meeting the UDI-6 minimum clinically important difference were evaluated by regression analysis.
RESULTS
Of 1419 users, 947 met inclusion criteria and provided data for analysis. The mean baseline UDI-6 score was 46.8 (SD 19.3), and the mean UDI-6 score change was 11.3 (SD 19.9; P<.001). Improvement was reported by 74% (697/947) and was similar across age, BMI, and incontinence subtype. Mean adherence was 89% (mean 12.5, SD 2.1 of 14 possible weekly uses) over 12 weeks. Those who used the device ≥10 times per week were more likely to achieve symptom improvement. In multivariate logistic regression analysis, baseline incontinence symptom severity and maximum angle change during pelvic floor muscle contraction were significantly associated with meeting the UDI-6 minimum clinically important difference. Age, BMI, and UI subtype were not associated.
CONCLUSIONS
This study provides real-world evidence to support the effectiveness and safety of a prescribed digital health treatment program for female UI. A digital PFMT program completed with visual guidance from a motion-based device yields significant results when executed ≥10 times per week over a period of 12 weeks. The program demonstrates high user engagement, with 92.9% (880/947) of users adhering to the prescribed training regimen. First-line incontinence treatment, when implemented using this digital program, leads to statistically and clinically substantial symptom improvements across age and BMI categories and incontinence subtypes.
PubMed: 38935967
DOI: 10.2196/58551 -
JMIR Bioinformatics and Biotechnology Jun 2024Health care is at a turning point. We are shifting from protocolized medicine to precision medicine, and digital health systems are facilitating this shift. By providing...
Health care is at a turning point. We are shifting from protocolized medicine to precision medicine, and digital health systems are facilitating this shift. By providing clinicians with detailed information for each patient and analytic support for decision-making at the point of care, digital health technologies are enabling a new era of precision medicine. Genomic data also provide clinicians with information that can improve the accuracy and timeliness of diagnosis, optimize prescribing, and target risk reduction strategies, all of which are key elements for precision medicine. However, genomic data are predominantly seen as diagnostic information and are not routinely integrated into the clinical workflows of electronic medical records. The use of genomic data holds significant potential for precision medicine; however, as genomic data are fundamentally different from the information collected during routine practice, special considerations are needed to use this information in a digital health setting. This paper outlines the potential of genomic data integration with electronic records, and how these data can enable precision medicine.
PubMed: 38935958
DOI: 10.2196/55632 -
JMIR Cancer Jun 2024Many supportive cancer care (SCC) services were teledelivered during COVID-19, but what facilitates patients' intentions to use teledelivered SCC is unknown.
Applying the Unified Theory of Acceptance and Use of Technology to Identify Factors Associated With Intention to Use Teledelivered Supportive Care Among Recently Diagnosed Breast Cancer Survivors During COVID-19 in Hong Kong: Cross-Sectional Survey.
BACKGROUND
Many supportive cancer care (SCC) services were teledelivered during COVID-19, but what facilitates patients' intentions to use teledelivered SCC is unknown.
OBJECTIVE
The study aimed to use the unified theory of acceptance and use of technology to investigate the factors associated with the intentions of breast cancer survivors (BCS) in Hong Kong to use various types of teledelivered SCC (including psychosocial care, medical consultation, complementary care, peer support groups). Favorable telehealth-related perceptions (higher performance expectancy, lower effort expectancy, more facilitating conditions, positive social influences), less technological anxiety, and greater fear of COVID-19 were hypothesized to be associated with higher intentions to use teledelivered SCC. Moreover, the associations between telehealth-related perceptions and intentions to use teledelivered SCC were hypothesized to be moderated by education level, such that associations between telehealth-related perceptions and intentions to use teledelivered SCC would be stronger among those with a higher education level.
METHODS
A sample of 209 (209/287, 72.8% completion rate) women diagnosed with breast cancer since the start of the COVID-19 outbreak in Hong Kong (ie, January 2020) were recruited from the Hong Kong Breast Cancer Registry to complete a cross-sectional survey between June 2022 and December 2022. Participants' intentions to use various types of teledelivered SCC (dependent variables), telehealth-related perceptions (independent variables), and sociodemographic variables (eg, education, as a moderator variable) were measured using self-reported, validated measures.
RESULTS
Hierarchical regression analysis results showed that greater confidence using telehealth, performance expectancy (believing telehealth helps with daily tasks), social influence (important others encouraging telehealth use), and facilitating conditions (having resources for telehealth use) were associated with higher intentions to use teledelivered SCC (range: β=0.16, P=.03 to β=0.34, P<.001). Moreover, 2-way interactions emerged between education level and 2 of the telehealth perception variables. Education level moderated the associations between (1) performance expectancy and intention to use teledelivered complementary care (β=0.34, P=.04) and (2) facilitating conditions and intention to use teledelivered peer support groups (β=0.36, P=.03). The positive associations between those telehealth perceptions and intentions were only significant among those with a higher education level.
CONCLUSIONS
The findings of this study implied that enhancing BCS' skills at using telehealth, BCS' and their important others' perceived benefits of telehealth, and providing assistance for telehealth use could increase BCS' intentions to use teledelivered SCC. For intentions to use specific types of SCC, addressing relevant factors (performance expectancy, facilitating conditions) might be particularly beneficial for those with a higher education level.
PubMed: 38935942
DOI: 10.2196/51072 -
Aging Jun 2024The primary objective of this study was to assess the diagnostic potential of galectin-3 (Gal-3), fractalkine (FKN), interleukin (IL)-6, microRNA(miR)-21, and cardiac...
OBJECTIVE
The primary objective of this study was to assess the diagnostic potential of galectin-3 (Gal-3), fractalkine (FKN), interleukin (IL)-6, microRNA(miR)-21, and cardiac troponin I (cTnI) in patients with ischemic cardiomyopathy (ICM).
METHOD
A total of 78 ICM patients (Case group) and 80 healthy volunteers (Control group) admitted to our hospital for treatment or physical examination from Aug. 2018 to Feb. 2020 were included in the current study. The serum concentration of Gal-3, FKN, IL-6, miR-21, and plasma expression of cTnI of both groups were determined. The severity of ICM was classified using New York Heart Association (NYHA) scale.
RESULTS
When compared with the control group, the case group had a significantly high blood concentration of Gal-3, FKN, IL-6, miR-21, and cTnI ( < 0.001). NYHA class II patients had lower blood levels of Gal-3, FKN, IL-6, miR-21, and cTnI than that in patients of NYHA class III and IV without statistical significance ( > 0.05). However, statistical significance could be achieved when comparing the above-analyzed markers in patients classified between class III and IV. Correlation analysis also revealed that serum levels of Gal-3, FKN, IL-6, miR-21, and cTnI were positively correlated with NYHA classification (R = 0.564, 0.621, 0.792, 0.981, < 0.05).
CONCLUSION
Our study revealed that up-regulated serum Gal-3, FKN, IL-6, miR-21, and cTnI levels were closely related to the progression of ICM. This association implies that these biomarkers have diagnostic potential, offering a promising avenue for early detection and monitoring of ICM progression.
Topics: Humans; Female; Male; Troponin I; Interleukin-6; MicroRNAs; Chemokine CX3CL1; Middle Aged; Galectin 3; Biomarkers; Aged; Myocardial Ischemia; Cardiomyopathies; Case-Control Studies; Galectins; Blood Proteins
PubMed: 38935941
DOI: 10.18632/aging.205953