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BMC Medical Informatics and Decision... Jun 2024Patient-reported outcome (PRO) is a distinct and indispensable dimension of clinical characteristics and recent advances have made remote PRO measurement possible. Sex...
BACKGROUND
Patient-reported outcome (PRO) is a distinct and indispensable dimension of clinical characteristics and recent advances have made remote PRO measurement possible. Sex difference in PRO of Parkinson's disease (PD) is hardly extensively researched.
METHODS
A smartphone-based self-management platform, offering remote PRO measurement for PD patients, has been developed. A total of 1828 PD patients, including 1001 male patients and 827 female patients, were enrolled and completed their PRO submission through this platform.
RESULTS
Sex differences in PROs have been identified. The female group had a significantly lower height, weight, and body mass index (BMI) than the male group (P < 0.001). For motor symptoms, a higher proportion of patients reporting dyskinesia was observed in the female group. For non-motor symptoms, there is a higher percentage (P < 0.001) as well as severity (P = 0.016) of depression in the female group. More male patients reported hyposmia, lisp, drooling, dysuria, frequent urination, hypersexuality, impotence, daytime sleepiness, and apathy than females (P < 0.05). In contrast, more female patients reported headache, palpation, body pain, anorexia, nausea, urinal incontinence, anxiety, insomnia (P < 0.05) than males.
CONCLUSIONS
We provide evidence for sex differences in PD through the data collected from our platform. These results highlighted the importance of gender in clinical decision-making, and also support the feasibility of remote PRO measurement through a smartphone-based self-management platform in patients with PD.
Topics: Humans; Parkinson Disease; Male; Female; Smartphone; Pilot Projects; Self-Management; Cross-Sectional Studies; Middle Aged; Aged; Patient Reported Outcome Measures; Sex Factors; Mobile Applications
PubMed: 38907208
DOI: 10.1186/s12911-024-02569-1 -
Journal of Clinical Medicine Jun 2024Moebius syndrome is a collection of orofacial anomalies with highly variable features affecting many different systems but characterised by bilateral facial palsy and... (Review)
Review
Moebius syndrome is a collection of orofacial anomalies with highly variable features affecting many different systems but characterised by bilateral facial palsy and absent eye abduction. We largely regard Moebius syndrome as a diagnosis of exclusion. Lack of awareness and knowledge means that children often fall between services, leading to treatment delays and difficulty interfacing with social care and schools, with long-term impact on physical health and psychosocial development. We developed a multidisciplinary team comprising core clinicians (lead physician, geneticist, speech and language therapist, psychologist and specialist nurse) and an expanded group to encompass the other affected systems. The interactions between our specialties lead to the development of a treatment protocol, which we present. The protocol harnesses the aspects of care of children with a range of other rare diseases at a specialised paediatric centre and synthesises them into a holistic approach for MBS and related conditions. Management is sequenced on an "ABC-style" basis, with airway, feeding, vision and speech taking priority in the early years. We define management priorities as airway stabilisation with swallow assessment, ocular surface protection and maintenance of nutritional support. Management principles for issues such as speech, reflux, drooling and sleep issues are outlined. In later years, psychological support has a prominent role geared towards monitoring and interventions for low mood, self-esteem and bullying.
PubMed: 38893020
DOI: 10.3390/jcm13113309 -
Healthcare (Basel, Switzerland) May 2024Dental wear arises from mechanical (attrition or abrasion) and chemical (erosion) factors. Despite its prevalence and clinical significance, accurately measuring and...
Dental wear arises from mechanical (attrition or abrasion) and chemical (erosion) factors. Despite its prevalence and clinical significance, accurately measuring and understanding its causes remain challenging in everyday practice. This one-year study with 39 participants involved comprehensive examinations and full-arch intraoral scans at the start and after 12 months. Volume loss exceeding 100 µ on each tooth's surfaces (buccal, lingual/palatine and incisal/occlusal) was measured by comparing three-dimensional scans from both time points. This study also assessed factors such as abrasion and erosion through clinical exams and questionnaires. There were no significant differences in dental wear in participants with sleep bruxism. However, noticeable wear occurred in the front teeth of those with waking bruxism and joint-related symptoms. Increased wear was associated with frequent consumption of acidic drinks, regular swimming, dry mouth, nocturnal drooling and heartburn, while no significant wear was found in patients with reflux. The used methodology proved effective in accurately assessing the progression of dental wear, which is important as many patients may initially be asymptomatic. The variability observed in dental wear patterns underscores the need to develop specific software applications that allow immediate and efficient comparison of wear areas based on extensive analysis of patient databases.
PubMed: 38891145
DOI: 10.3390/healthcare12111069 -
Cureus May 2024Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an uncommon genetic disorder that affects small blood vessels in...
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an uncommon genetic disorder that affects small blood vessels in the brain. It leads to neurological symptoms, disability-adjusted life years, and difficult emotional and physical situations for patients and their families. As unusual brain symptoms appear, it becomes important to understand the different clinical manifestations of CADASIL. Our case report and review examine several cases to demonstrate different presentations and management strategies of CADASIL. A 52-year-old male with a family history of strokes at a young age from his father and paternal grandfather presented to a neurology clinic for left facial droop and drooling. Brain magnetic resonance imaging showed extensive periventricular and subcortical white matter disease, including the external capsule and subcortical white matter of the temporal lobe. Findings were suggestive of small vessel vasculopathy. A cerebral angiogram showed that all large extra- and intracranial vessels were patent without evidence of aneurysm formation. There was no obvious evidence of beading of the distal intracranial vessels. Cerebrospinal fluid studies were normal. The NOTCH3 mutation was sent to test for CADASIL, which came back positive. The patient was started on aspirin (81 mg) and atorvastatin (20 mg) daily. The patient was counseled on the possibility of having an ischemic or hemorrhagic stroke. Aspirin and atorvastatin were continued, a neuropsychological evaluation was ordered, and CADASIL genetic counseling and testing were offered to him and his children. Over several years, patients developed several strokes and seizures due to infarcts. He also developed intraparenchymal hemorrhage complicated by dysphagia, requiring a feeding tube. Due to his severe physical debility, he was discharged to a nursing home for rehabilitation, where he did not improve with therapy and remained bedbound. He was discharged and sent home with his family. CADASIL can present as a diagnostic challenge due to its common presentation with migraines, transient ischemic attacks, and strokes, with or without risk factors. This unique presentation of CADASIL with facial palsy highlights the importance of emerging atypical presentations and the need for a detailed history of neuroimaging, family history, and personal history of neurovascular events. By accurately diagnosing the condition, patients and families can be counseled on the disease course and genetics. Management requires a multidisciplinary approach with neurology, genetic counseling, physical therapy, psychology, and psychiatry if depression or anxiety is present, with the aim of improving the patient's quality of life.
PubMed: 38868233
DOI: 10.7759/cureus.60165 -
Indian Journal of Palliative Care 2024Non-invasive ventilation (NIV), namely continuous positive airway pressure (CPAP) and bi-level positive airway pressure (BiPAP), delivers mechanical ventilation without...
OBJECTIVES
Non-invasive ventilation (NIV), namely continuous positive airway pressure (CPAP) and bi-level positive airway pressure (BiPAP), delivers mechanical ventilation without endotracheal intubation. Short-term NIV (planned for <21 days during initiation) can be used for the management of acute respiratory distress (ARD) among paediatric palliative patients with "Do Not Resuscitate or Intubate" (DNI) as the ceiling of care. This study aimed to describe the usage of short-term NIV among paediatric palliative patients in a woman and child hospital with a paediatric palliative subspecialty.
MATERIALS AND METHODS
A retrospective and observational study was conducted on all paediatric palliative patients who received short-term NIV in Tunku Azizah Hospital Kuala Lumpur, Malaysia, from March 2020 to May 2022.
RESULTS
During the study period, short-term NIV was offered on 23 occasions for 20 different children. Indications for short-term NIV include 16 (69.6%) occasions of potentially reversible ARD (NIV Category 1) and 7 (30.4%) occasions of comfort care at the end of life (NIV Category 2). The main cause of ARD was pneumonia (90.3%) due to either aspiration or infection. The modality of NIV used was BiPAP only (14 occasions, 60.9%), CPAP only (three occasions, 13%) and both BiPAP and CPAP (six occasions, 26.1%). The median duration of NIV usage was four days (minimum one day and maximum 15 days). NIV was initiated as an escalation from nasal prong, Ventimask or high-flow mask oxygen on 22 occasions and as weaning down post-extubation on one occasion. For the 22 occasions of escalating therapy, there was significant improvement at six hours compared to pre-NIV in the median heart rate (136 to 121, =0.002), respiratory rate (40 to 31, =0.002) and oxygen saturation (96% to 99%, =0.025). All 17 documented parental impressions of the child's condition post six hours of NIV were that the child had improved. Adverse events during short-term NIV include five episodes (21.7%) of stomach distension, four episodes (17.4%) of skin sores on the face and one episode (4.3%) of excessive drooling. Three patients passed away while on NIV in the hospital. For the other 20 (87%) occasions, patients were able to wean off NIV. Post-weaning off NIV, three patients passed away during the same admission. On 17 occasions, patients were discharged home after weaning off NIV.
CONCLUSION
Usage of short-term NIV in paediatric palliative care, where children have an advanced directive in place indicating DNI, as seen in our study, can be a valuable modality of management for distressing symptoms, in addition to the pharmacological management of breathlessness. This is shown through our study to be of benefit in potentially reversible ARD as well as comfort care at the end of life. Further rigorous studies will need to be conducted for a clearer understanding of short-term NIV that would enable the formulation of guidelines to improve the quality of life and death in children.
PubMed: 38846132
DOI: 10.25259/IJPC_304_2023 -
Acta Medica Philippina 2024Airway management of a pediatric patient with cervical cystic hygroma can be challenging as the large neck mass may extend in the oral cavity, result in tracheal...
Airway management of a pediatric patient with cervical cystic hygroma can be challenging as the large neck mass may extend in the oral cavity, result in tracheal deviation, and cause possible upper airway obstruction. This is a case of a 4-year-old female admitted due to sudden enlargement of neck mass associated with dysphagia and sialorrhea. Patient was intubated under sedation while maintaining spontaneous ventilation with a pediatric flexible fiberoptic scope through a nasopharyngeal airway serving as a passage guide for ease of scoping and a protective device against trauma.
PubMed: 38836084
DOI: 10.47895/amp.v58i9.8809 -
BMC Neurology May 2024Epilepsy, a challenging neurological condition, is often present with comorbidities that significantly impact diagnosis and management. In the Pakistani population,...
BACKGROUND
Epilepsy, a challenging neurological condition, is often present with comorbidities that significantly impact diagnosis and management. In the Pakistani population, where financial limitations and geographical challenges hinder access to advanced diagnostic methods, understanding the genetic underpinnings of epilepsy and its associated conditions becomes crucial.
METHODS
This study investigated four distinct Pakistani families, each presenting with epilepsy and a spectrum of comorbidities, using a combination of whole exome sequencing (WES) and Sanger sequencing. The epileptic patients were prescribed multiple antiseizure medications (ASMs), yet their seizures persist, indicating the challenging nature of ASM-resistant epilepsy.
RESULTS
Identified genetic variants contributed to a diverse range of clinical phenotypes. In the family 1, which presented with epilepsy, developmental delay (DD), sleep disturbance, and aggressive behavior, a homozygous splice site variant, c.1339-6 C > T, in the COL18A1 gene was detected. The family 2 exhibited epilepsy, intellectual disability (ID), DD, and anxiety phenotypes, a homozygous missense variant, c.344T > A (p. Val115Glu), in the UFSP2 gene was identified. In family 3, which displayed epilepsy, ataxia, ID, DD, and speech impediment, a novel homozygous frameshift variant, c.1926_1941del (p. Tyr643MetfsX2), in the ZFYVE26 gene was found. Lastly, family 4 was presented with epilepsy, ID, DD, deafness, drooling, speech impediment, hypotonia, and a weak cry. A homozygous missense variant, c.1208 C > A (p. Ala403Glu), in the ATP13A2 gene was identified.
CONCLUSION
This study highlights the genetic heterogeneity in ASM-resistant epilepsy and comorbidities among Pakistani families, emphasizing the importance of genotype-phenotype correlation and the necessity for expanded genetic testing in complex clinical cases.
Topics: Humans; Pakistan; Epilepsy; Male; Female; Comorbidity; Child; Genetic Heterogeneity; Pedigree; Child, Preschool; Adolescent; Exome Sequencing; Adult; Developmental Disabilities; Young Adult; Intellectual Disability; Phenotype
PubMed: 38783254
DOI: 10.1186/s12883-024-03671-7 -
European Journal of Paediatric... May 2024Despite the established efficacy of glycopyrronium bromide in reducing drooling among children with neurodevelopmental disabilities, evidence on its impact on the daily...
BACKGROUND
Despite the established efficacy of glycopyrronium bromide in reducing drooling among children with neurodevelopmental disabilities, evidence on its impact on the daily lives of children and parents and effectiveness in a real-world setting are scarce, especially among long-term users. This study explored timing and duration of glycopyrronium treatment, effect and impact on daily life, and occurrence of side effects to inform clinical practice.
METHODS
This was a retrospective cohort study at a national referral centre for drooling, including 61 children with nonprogressive neurodevelopmental disabilities, treated with glycopyrronium for anterior and/or posterior drooling between 2011 and 2021. Data were obtained from medical records and supplemented by structured telephone interviews with parents.
RESULTS
Anterior drooling severity decreased in 82% of the included children. Changes in the impact of drooling on burden of care, social interaction, and self-esteem were reported in 55%, 31%, and 36%, respectively. Side effects were noted for 71% of cases, yet only 36% of parents deemed these as outweighing the positive impact of treatment. A substantial majority (77%) of the included children were long-term users (≥6 months). Among these, 38% of parents reported decreasing effectiveness and 27% noticed more prominent side effects over time.
CONCLUSIONS
Glycopyrronium demonstrated potential in mitigating the impact of drooling on daily life, although variations were observed in the specific aspects and extent of improvement. The real-world context of our study provides important insights for refining clinical practices, emphasizing the need for balanced consideration of treatment benefits and potential side effects to facilitate shared decision-making.
PubMed: 38776696
DOI: 10.1016/j.ejpn.2024.05.004 -
Turkish Journal of Physical Medicine... Dec 2023This study aimed to investigate the short- and long-term effects of kinesiotaping (KT) on dysphagia in children with cerebral palsy (CP).
OBJECTIVES
This study aimed to investigate the short- and long-term effects of kinesiotaping (KT) on dysphagia in children with cerebral palsy (CP).
PATIENTS AND METHODS
One hundred one CP patients (59 males, 42 females; mean age: 49.3±18.8 years; range, 2 to 6 years) with dysphagia referred between October 2017 and January 2020 were enrolled in the randomized controlled study. Children who met the study criteria were randomly assigned to the kinesiotape group (n=54) or the sham group (n=47). Specific swallowing evaluations were performed on all patients before the therapy. The KT or sham application protocole combined with conventional rehabilitaion therapy was conducted for six weeks. Evaluation parameters were repeated at 6 and 18 weeks. The evaluated parameters were compared within and between groups.
RESULTS
Drooling, weak tongue movement, chewing difficulty, coughing/choking and retching/vomiting during/after feeding, functional oral intake score, and meal time were found to be significantly improved at six weeks in the kinesiotape group compared to the sham group, and the clinical improvements were present at 18 weeks (p<0.05). There was no statistically significant difference in any parameter in the sham group at 6 and 18 weeks compared to the pretreatment (p>0.05).
CONCLUSION
The addition of KT to a home exercise program is an effective method for dysphagia in CP.
PubMed: 38766591
DOI: 10.5606/tftrd.2023.11066 -
BMJ Paediatrics Open May 2024Background: Childhood poisoning, characterised by exposure to toxic substances, poses a global health concern with variations across regions. Despite the importance of...
INTRODUCTION
Background: Childhood poisoning, characterised by exposure to toxic substances, poses a global health concern with variations across regions. Despite the importance of having current information about childhood acute poisoning in our region, there is a noticeable gap in such research in our local context. Regularly reviewing the agents responsible for poisoning in our locale is essential for devising prevention strategies and treatment approaches. This study aimed to examine the patterns and outcomes of childhood poisoning at the Children's Emergency Department of the Federal Medical Centre, Yenagoa, Bayelsa State, Nigeria.
METHODS
A retrospective cross-sectional study was conducted, analysing cases of childhood poisoning in the Children's Emergency Ward, presenting from January 2013 to December 2022. Sociodemographic data, types of poisoning agents, home interventions, clinical features and outcomes were extracted from medical records.
RESULTS
Of 9389 admissions, 81 (0.8%) cases were admitted for childhood poisoning, but only 69 cases were analysed (total n=69). Children aged under 5 years (52.2%) and who were males (59.4%) were mostly involved. Organophosphates (21.7%) and kerosene (20.3%) were common poisoning agents, often accidental (72.5%) and occurring at home (94.2%). Delayed hospital presentation (>2 hours) was common (68.1%). Vomiting (72.5%) and drooling saliva (56.5%) were prevalent symptoms. Hydration (60.9%) was the main hospital intervention, while antidotes were infrequently used (15.9%). Mortality was 8.7%, predominantly due to kerosene ingestion in young children.
CONCLUSION
Organophosphate and kerosene poisoning are the most common in this facility. Enforcement challenges persist, emphasising the importance of safe storage practices and improved poison control measures. Addressing resource constraints for antidote availability and increasing awareness are vital for effective management and prevention.
Topics: Humans; Nigeria; Retrospective Studies; Female; Male; Child, Preschool; Cross-Sectional Studies; Poisoning; Emergency Service, Hospital; Child; Infant; Kerosene; Organophosphate Poisoning
PubMed: 38754895
DOI: 10.1136/bmjpo-2023-002433