Qatar Medical Journal最新文献

Background: Myelomeningocele (MMC) is a severe congenital malformation of the CNS (central nervous system) that often leads to seizures due to factors such as shunt complications and hydrocephalus. This study aims to develop a machine learning model to predict the likelihood of seizures in MMC patients by analyzing various predictors.

Methods: This retrospective study involved 103 MMC patients. Factors such as demographics, MMC location, shunt history, and imaging were analyzed using the random forest classifier, the support vector classifier, and logistic regression. Model performance was assessed through bootstrap estimates, cross-validation, classification reports, and area under the curve (AUC).

Results: Of the evaluated patients, 11 experienced seizures. The key influencing factors included gestational age, sacral location, hydrocephalus, shunt history, and corpus callosum dysgenesis. Machine learning (ML) models predicted seizure risk with an accuracy of 86-92% and an AUC ranging from 0.764 to 0.865. Significant predictors were imaging findings, shunt infection history, and gestational age.

Conclusion: ML models effectively predict seizure risk in MMC patients, with certain variables showing strong associations and significant impact.

Background: The screening of post-traumatic stress disorder (PTSD) and depression after an injury is essential for improving the patient's quality of life. The aim of this study was to assess the utility of PTSD and depression screening and the early referral to the trauma psychology service at a level 1 trauma center. We hypothesized that as the screening process becomes more established as a standard of care, compliance with screening would improve. Furthermore, early referral of trauma patients to a dedicated psychologist within the trauma care system would be beneficial.

Methods: This retrospective study involved 1,245 consecutive eligible patients who were admitted to the trauma service between September 2019 and December 2020. The Injured Trauma Survivor Screen (ITSS) and an additional criteria checklist were used for patient screening, and data were analyzed. The screening was conducted within 24 hours of the admission of trauma patients aged  ≥ 14 years, all of whom had a Glasgow Coma Scale of 15.

Results: The findings of the study showed that the integration of the new screening tool into a standard of care requires a significant amount of time. Screening compliance increased from 84% to 100% throughout the duration of the study. Notably, there was a 10% gap in the referral of patients identified through the ITSS tool, with 64% referrals based on the symptom checklist.

Conclusions: The current screening methods used as a standard of care show good utility value in identifying trauma patients predisposed to developing PTSD or depression, warranting their continued use. Facilitating direct referrals to trauma psychology service by attending staff, including nurses, could help bridge the gap in patient identification and referral. However, further research is warranted to validate this process.

Background: Parinaud syndrome is a rare condition that can arise as a consequence of strokes, hemorrhages, and neoplasms. Due to the debilitating after-effects of this condition, such as functional dependency, a high risk of falls, decreased mobility, and increased caregiver burden, immediate and holistic intervention is essential.

Case presentation: A 40-year-old male patient presented with Parinaud syndrome following an episode of stroke. Physical examination on admission revealed self-care dependence, limited mobility and upper limb function, limited visual fields, and reduced therapy tolerance.

Discussion: The patient was treated with belay glasses, an innovative strategy, to assess functional changes. This intervention resulted in notable improvements in overall function, contributing to greater independence in daily activities. Standardized assessments indicated improvements in self -care, mobility, and hand function. The use of belay glasses not only increased visual function but also facilitated overall functional gain.

Conclusion: Parinaud syndrome is an unusual condition that can arise following a stroke or brain trauma. This case report aimed to explore the functional gain of a patient diagnosed with Parinaud syndrome during an 8-week rehabilitation program, using a multidisciplinary approach and the application of prism glasses. Clinically significant differences were observed using belay glasses, representing an innovative intervention strategy.

Background: Cardiovascular disease (CVD) affects 500 million people globally, with mortality over 20 million. In the UK, the financial burden is estimated to be approximately £54 billion. Consequently, Lp(a) has been incorporated as an additional biomarker for cardiovascular risk stratification. It is used as a superior marker over the traditional marker LDL-C.

Methods: This was a single-centre retrospective study conducted at Hampshire Hospital NHS Foundation Trust spanning 16 months (September 2022-January 2024). Lp(a) results were retrieved from the laboratory database and assessed for trends. The distribution of Lp(a) results was also compared with the values outlined in the HEART UK consensus statement (2019). Additionally, demographic characteristics such as age, sex, medical history, and lifestyle factors were collected. Personal details, including names, addresses, and phone numbers, were anonymised to ensure confidentiality. A total of 192 patients were included in the study. These patients were referred for a lipid panel by lipid specialists (172), GP surgeries (10), cardiologists (5), unspecified consultants (3) and endocrinologists (2). All patients were over 18 years of age. They were attending the clinic and had been screened for dyslipidaemia and high cardiovascular risk, including conditions such as familial hypercholesterolaemia, renal dysfunction, and those on antilipid therapy.

Results: The demography included 99 (52%) females and 93 (48%) males. The chronological age (mean ± SD) was 61.17 ± 13.18 for females and 53.91 ± 12.84 for males (p < 0.001). Additionally, the Lp(a) values were 126.50 ± 118.92 and 135.33 ± 99.59 (p < 0.01) for females and males, respectively. The analysed samples were categorised as normal ( ≤ 32 nmol/L) and abnormal (>32 nmol/L) concentrations of Lp(a), with normal results observed in 104 patients and abnormal results in 88 patients: Lp(a) ≤ 32 nmol/L (54%) versus >32 nmol/L (46%), p < 0.0001. According to the CVD risk groupings established by HEART UK, 54%, 12%, 18%, 15% and 1% of the patients had Lp(a) values of 12.2 ± 7.5, 52.20 ± 16.42, 147.14 ± 36.64, 291.71 ± 62.49, and 471.50 ± 28.99 nmol/L, classified as normal, minor risk, moderate risk, high risk, and very high risk, respectively.

Conclusion: This study provided evidence supporting the inclusion of Lp(a) as an extra component in lipid profile testing. Elevated levels of Lp(a) are associated with an increased risk of CVD, which may be more significant than the risk posed by LDL-C. Incorporating Lp(a) as a routine biomarker in real-world clinical practice would accurately stratify cardiovascular risk, particularly for patients with elevated Lp(a) concentrations, and could potentially be a more significant risk than LDL-C in individuals at high risk for CVD, especially for those ≥ 50 years of age.

Background: Pertussis, a highly contagious disease, has made a resurgence following the easing of COVID-19 pandemic restrictions. Infants under three months old are particularly vulnerable due to their immature immune systems and lack of protective vaccination.

Methods: This study presents a case series of four infants, aged one to three months, who initially presented with nonspecific respiratory symptoms at Alkhor Hospital between January and June 2024. Subsequent diagnostic testing confirmed pertussis in all four cases. It is noteworthy that all cases involved were previously healthy infants with no underlying health conditions. Additionally, none of the mothers had received the Tdap vaccine during pregnancy.

Results: All infants required hospitalization, with one being admitted to the PICU for eight days. Ultimately, all four infants made a full recovery.

Conclusion: Pertussis remains a significant cause of morbidity and mortality in infants under three months of age. Given the potential for severe complications and the burden it places on the healthcare system during outbreaks, it is crucial to emphasize preventive measures such as maternal vaccination.

Background: Hypocalcemia is an electrolyte disorder that can be effectively corrected. However, in its severe form, it poses significant risks, including potentially fatal symptoms such as electrocardiographic changes that may lead to sudden cardiac arrest if not treated promptly.

Case presentation: We report the case of a young female patient who presented with multiple episodes of tonic posturing and altered level of consciousness. Diagnostic evaluation revealed severe hypocalcemia with hypomagnesemia, QT prolongation, and episodes of non-sustained ventricular tachycardia. The condition was managed with calcium and magnesium supplementation. Further investigations revealed a novel missense mutation in transient receptor potential melastatin 3 (TRPM3).

Discussion: Hypocalcemic seizures are rare in adults and are typically associated with severe hypocalcemia and cardiovascular instability, including ventricular dysrhythmias. The differential diagnoses in this case included primary hypoparathyroidism, Bartter syndrome type 5 (CaSR (calcium-sensing receptor) mutation), Gitelman syndrome, and claudin mutations. TRPM3 is highly expressed in kidney tissue, playing a role in the resorption of calcium and divalent ions. However, further research is needed to confirm its role in calcium homeostasis.

Conclusion: The patient was initially misdiagnosed with epilepsy for the past two years. Following a comprehensive evaluation, she was successfully treated with intravenous calcium and magnesium. On follow-up after six months, her condition showed marked improvement, characterized by better cardiac function and the absence of further seizure episodes. This case represents the first reported instance of a TRPM3 mutation affecting calcium channels, highlighting the need for further investigation into its implications for calcium metabolism.

Background: Language barriers significantly impact healthcare delivery, particularly in emergency medical services (EMS) operating in linguistically diverse environments. The demographic composition of Qatar, with its predominantly expatriate population, presents unique challenges for effective communication in pre-hospital care settings. The aim of this was to assess the opinions of personnel from the Hamad Medical Corporation Ambulance Service (HMCAS) regarding the impact of language barriers on pre-hospital emergency care.

Methods: A cross-sectional study was conducted using an anonymous survey with a five-point Likert scale among 312 frontline personnel of HMCAS. Fisher's exact and Kruskal-Wallis tests were used to compare ordinal outcomes across groups. Machine learning algorithms, including ordinal logistic regression, support vector machines (SVM), and naive Bayes, were used to develop predictive models for HMCAS staff opinions on their language learning needs.

Results: Both bivariate and multivariate analyses revealed significant differences in the frequency of experiencing communication challenges. The most influential factors identified were strong opinions on language barriers and the willingness of staff to enhance their language skills. Variables related to using family members as interpreters showed relatively low importance. The SVM model demonstrated the best predictive capability concerning staff perceptions about language learning needs, with an accuracy of 0.50 and an average area under the curve score of 0.74.

Conclusion: Language barriers significantly impact pre-hospital emergency care in Qatar. The findings highlight the need for targeted interventions, such as language training programs and mobile translation apps. These strategies could enhance communication in multicultural EMS settings, improving patient care and reducing miscommunication risks. Future research should evaluate the long-term impact of these interventions on patient outcomes.

Background: When Qatar imposed a nationwide lockdown in accordance with WHO guidelines during the first wave of the COVID-19 pandemic, dental healthcare services were disrupted, limiting services to emergencies and postponing elective procedures due to transmission risks. Teledentistry was introduced to remotely manage dental conditions and reduce hospital admissions. The present study examines patient perceptions of audio-dentistry, a form of teledentistry, in managing dental emergencies during the pandemic and explores factors influencing overall patient satisfaction.

Methods: A retrospective, cross-sectional telephone questionnaire included 352 participants who used a dental emergency hotline service during the first wave of the COVID-19 pandemic lockdown (March 29-August 31, 2020) in Qatar. A validated, closed-ended questionnaire was administered to explore participants' views on audio-dentistry. The questionnaire explored the influence of variables related to dental problems depending on the specialty required, the years of experience of the responding dentist, and teletriage management decisions on overall satisfaction with audio-dentistry.

Results: The response rate was 80.18%. Most participants expressed positive views of audio-dentistry in five domains (usefulness, interaction quality, ease of use and reliability, quality of care, satisfaction, and future use). However, approximately one-third of participants disagreed or strongly disagreed that their dental problem had improved following the call (35.3%) and viewed the lack of physical contact as a disadvantage (31.2%). Overall satisfaction was only influenced by telephone triage outcomes, with patients transferred for chairside management more likely to be satisfied (89.8%) than those managed remotely through self-care instructions and medications (80.4%) or instructions only (75.4%) (p = 0.011).

Conclusions: Audio-dentistry effectively sustained oral health services during the COVID-19 pandemic while minimizing face-to-face visits, with patients largely expressing high satisfaction in areas such as usefulness, interaction quality, ease of use, reliability, and overall care. Satisfaction was primarily influenced by call outcomes and referrals or prescription decisions rather than caller demographics or dentist experience. However, some dissatisfaction arose when immediate improvement was not achieved, particularly in conditions such as pulpitis that are challenging to manage remotely.