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1.
Neural Regen Res ; 20(4): 1135-1152, 2025 Apr 01.
Article in English | MEDLINE | ID: mdl-38989952

ABSTRACT

JOURNAL/nrgr/04.03/01300535-202504000-00029/figure1/v/2024-07-06T104127Z/r/image-tiff Recent research has demonstrated the impact of physical activity on the prognosis of glioma patients, with evidence suggesting exercise may reduce mortality risks and aid neural regeneration. The role of the small ubiquitin-like modifier (SUMO) protein, especially post-exercise, in cancer progression, is gaining attention, as are the potential anti-cancer effects of SUMOylation. We used machine learning to create the exercise and SUMO-related gene signature (ESLRS). This signature shows how physical activity might help improve the outlook for low-grade glioma and other cancers. We demonstrated the prognostic and immunotherapeutic significance of ESLRS markers, specifically highlighting how murine double minute 2 (MDM2), a component of the ESLRS, can be targeted by nutlin-3. This underscores the intricate relationship between natural compounds such as nutlin-3 and immune regulation. Using comprehensive CRISPR screening, we validated the effects of specific ESLRS genes on low-grade glioma progression. We also revealed insights into the effectiveness of Nutlin-3a as a potent MDM2 inhibitor through molecular docking and dynamic simulation. Nutlin-3a inhibited glioma cell proliferation and activated the p53 pathway. Its efficacy decreased with MDM2 overexpression, and this was reversed by Nutlin-3a or exercise. Experiments using a low-grade glioma mouse model highlighted the effect of physical activity on oxidative stress and molecular pathway regulation. Notably, both physical exercise and Nutlin-3a administration improved physical function in mice bearing tumors derived from MDM2-overexpressing cells. These results suggest the potential for Nutlin-3a, an MDM2 inhibitor, with physical exercise as a therapeutic approach for glioma management. Our research also supports the use of natural products for therapy and sheds light on the interaction of exercise, natural products, and immune regulation in cancer treatment.

2.
Neural Regen Res ; 20(2): 354-365, 2025 Feb 01.
Article in English | MEDLINE | ID: mdl-38819039

ABSTRACT

Neuromyelitis optica spectrum disorders are neuroinflammatory demyelinating disorders that lead to permanent visual loss and motor dysfunction. To date, no effective treatment exists as the exact causative mechanism remains unknown. Therefore, experimental models of neuromyelitis optica spectrum disorders are essential for exploring its pathogenesis and in screening for therapeutic targets. Since most patients with neuromyelitis optica spectrum disorders are seropositive for IgG autoantibodies against aquaporin-4, which is highly expressed on the membrane of astrocyte endfeet, most current experimental models are based on aquaporin-4-IgG that initially targets astrocytes. These experimental models have successfully simulated many pathological features of neuromyelitis optica spectrum disorders, such as aquaporin-4 loss, astrocytopathy, granulocyte and macrophage infiltration, complement activation, demyelination, and neuronal loss; however, they do not fully capture the pathological process of human neuromyelitis optica spectrum disorders. In this review, we summarize the currently known pathogenic mechanisms and the development of associated experimental models in vitro, ex vivo, and in vivo for neuromyelitis optica spectrum disorders, suggest potential pathogenic mechanisms for further investigation, and provide guidance on experimental model choices. In addition, this review summarizes the latest information on pathologies and therapies for neuromyelitis optica spectrum disorders based on experimental models of aquaporin-4-IgG-seropositive neuromyelitis optica spectrum disorders, offering further therapeutic targets and a theoretical basis for clinical trials.

3.
Article in English | MEDLINE | ID: mdl-38770399

ABSTRACT

Objective: The population-based colorectal cancer screening guidelines in Japan recommend an annual fecal immunochemical test (FIT). However, there is no consensus on the need for annual FIT screening for patients who recently performed a total colonoscopy (TCS). Therefore, we evaluated the repeated TCS results for patients with positive FIT after a recent TCS to assess the necessity of an annual FIT. Methods: We reviewed patients with positive FIT in opportunistic screening from April 2017 to March 2022. The patients were divided into two groups: those who had undergone TCS within the previous 5 years (previous TCS group) and those who had not (non-previous TCS group). We compared the detection rates of advanced neoplasia and colorectal cancer between the two groups. Results: Of 671 patients, 151 had received TCS within 5 years and 520 had not. The detection rates of advanced neoplasia in the previous TCS and non-previous TCS groups were 4.6% and 12.1%, respectively (p < 0.01), and the colorectal cancer detection rates were 0.7% and 1.5%, respectively (no significant difference). The adenoma detection rates were 33.8% in the previous TCS group and 40.0% in the non-previous TCS group (no significant difference). Conclusions: Only a few patients were diagnosed with advanced neoplasia among the patients with FIT positive after a recent TCS. For patients with adenomatous lesions on previous TCS, repeated TCS should be performed according to the surveillance program without an annual FIT. The need for an annual FIT for patients without adenomatous lesions on previous TCS should be prospectively assessed in the future.

4.
Neural Regen Res ; 20(1): 93-106, 2025 Jan 01.
Article in English | MEDLINE | ID: mdl-38767479

ABSTRACT

Nowadays, presynaptic dopaminergic positron emission tomography, which assesses deficiencies in dopamine synthesis, storage, and transport, is widely utilized for early diagnosis and differential diagnosis of parkinsonism. This review provides a comprehensive summary of the latest developments in the application of presynaptic dopaminergic positron emission tomography imaging in disorders that manifest parkinsonism. We conducted a thorough literature search using reputable databases such as PubMed and Web of Science. Selection criteria involved identifying peer-reviewed articles published within the last 5 years, with emphasis on their relevance to clinical applications. The findings from these studies highlight that presynaptic dopaminergic positron emission tomography has demonstrated potential not only in diagnosing and differentiating various Parkinsonian conditions but also in assessing disease severity and predicting prognosis. Moreover, when employed in conjunction with other imaging modalities and advanced analytical methods, presynaptic dopaminergic positron emission tomography has been validated as a reliable in vivo biomarker. This validation extends to screening and exploring potential neuropathological mechanisms associated with dopaminergic depletion. In summary, the insights gained from interpreting these studies are crucial for enhancing the effectiveness of preclinical investigations and clinical trials, ultimately advancing toward the goals of neuroregeneration in parkinsonian disorders.

5.
Neural Regen Res ; 20(1): 234-241, 2025 Jan 01.
Article in English | MEDLINE | ID: mdl-38767488

ABSTRACT

JOURNAL/nrgr/04.03/01300535-202501000-00031/figure1/v/2024-05-14T021156Z/r/image-tiff Early identification and treatment of stroke can greatly improve patient outcomes and quality of life. Although clinical tests such as the Cincinnati Pre-hospital Stroke Scale (CPSS) and the Face Arm Speech Test (FAST) are commonly used for stroke screening, accurate administration is dependent on specialized training. In this study, we proposed a novel multimodal deep learning approach, based on the FAST, for assessing suspected stroke patients exhibiting symptoms such as limb weakness, facial paresis, and speech disorders in acute settings. We collected a dataset comprising videos and audio recordings of emergency room patients performing designated limb movements, facial expressions, and speech tests based on the FAST. We compared the constructed deep learning model, which was designed to process multi-modal datasets, with six prior models that achieved good action classification performance, including the I3D, SlowFast, X3D, TPN, TimeSformer, and MViT. We found that the findings of our deep learning model had a higher clinical value compared with the other approaches. Moreover, the multi-modal model outperformed its single-module variants, highlighting the benefit of utilizing multiple types of patient data, such as action videos and speech audio. These results indicate that a multi-modal deep learning model combined with the FAST could greatly improve the accuracy and sensitivity of early stroke identification of stroke, thus providing a practical and powerful tool for assessing stroke patients in an emergency clinical setting.

6.
Notas enferm. (Córdoba) ; 25(43): 74-80, jun.2024.
Article in Spanish | LILACS, BDENF - Nursing, UNISALUD, InstitutionalDB, BINACIS | ID: biblio-1561376

ABSTRACT

Objetivo: Determinar el nivel de conocimiento de los estudiantes de enfermería de la Universidad Técnica de Ambato sobre sepsis quirúrgica. Material y método: La presente investigación tiene un diseño de desarrollo observacional, de tipo descriptivo, cohorte transversal, con un enfoque cuantitativo, ya que el nivel de cono-cimiento se verá representado mediante tablas y gráficos para des-cribir la problemática del periodo octubre 2023 febrero 2024. Re-sultados: Se evidencia un alto porcentaje de respuestas incorrectas por cada ítem por parte de los estudiantes. La categoría Nivel de Conocimiento sobre Definición de Sepsis, fue respondida de ma-nera incorrecta con un porcentaje del 83,9%, la categoría Nivel de Conocimiento sobre Diagnóstico de Sepsis obtuvo 51,7% y, por úl-timo, la Nivel de Conocimiento sobre Tratamiento de Sepsis con el 29,2%. Conclusiones: El nivel de conocimiento de los estudiantes sobre Sepsis Quirúrgica es malo, debido a que existe una subesti-mación de la gravedad de la sepsis como afección potencialmente mortal, lo que puede traer un impacto negativo en los pacientes[AU]


Objective: Determine the level of knowledge of nursing students at the Technical University of Ambato about surgical sepsis. Mate-rials and methods: This research has an observational, descriptive, transversal development design, with a quantitative approach since the level of knowledge will be represented through tables and gra-phs to describe the problems of the period October 2023-February 2024. Results: A high percentage of incorrect answers for each item by the students is evident. The category Level of Knowledge about Definition of Sepsis was answered incorrectly with a percentage of 83.9%, the category Level of Knowledge about Diagnosis of Sepsis obtained 51.7% and, finally, the category Level of Knowledge about Treatment of Sepsis. Sepsis with 29.2%. Conclusions: The level of knowledge of students about Surgical Sepsis is poor because there is an underestimation of the severity of sepsis as a potentially fatal condition, which can have a negative impact on patients[AU]


Objetivo: Determinar o nível de conhecimento dos estudantes de enfermagem da Universidade Técnica de Ambato sobre sepse ci-rúrgica. Material e método: Esta pesquisa possui desenho de coor-te observacional, descritivo, transversal, com abordagem quantita-tiva, uma vez que o nível de conhecimento será representado por meio de tabelas e gráficos para descrever o problema no período de outubro de 2023 a fevereiro de 2024. Resultados: Uma parada. É evidente o percentual de respostas incorretas para cada item por parte dos alunos. A categoria Nível de Conhecimento sobre Defi-nição de Sepse foi respondida incorretamente com percentual de 83,9%, a categoria Nível de Conhecimento sobre Diagnóstico de Sepse obteve 51,7% e por fim, a categoria Nível de Conhecimen-to sobre Tratamento de Sepse com 29,2%. Conclusões: O nível de conhecimento dos estudantes sobre a Sepse Cirúrgica é baixo, pois há uma subestimação da gravidade da sepse como uma condição potencialmente fatal, que pode ter um impacto negativo nos pa-cientes[AU]


Subject(s)
Humans , Male , Female , Health Knowledge, Attitudes, Practice , Sepsis/complications , Sepsis/diagnosis , Ecuador
7.
Rev. enferm. UERJ ; 32: e82186, jan. -dez. 2024.
Article in English, Spanish, Portuguese | LILACS-Express | LILACS | ID: biblio-1556466

ABSTRACT

Objetivo: identificar quais os instrumentos disponíveis para avaliação multidimensional da fragilidade em idosos com doença cardiovascular, potencialmente aplicáveis durante a realização do Processo de Enfermagem. Método: revisão sistemática conduzida em oito bases de dados/portais, para identificação de estudos que apresentassem instrumentos multidimensionais de avaliação de fragilidade em idosos com doença cardiovascular e que fossem aplicáveis ao processo de enfermagem. Resultados: foram incluídos 19 instrumentos multidimensionais. O Brief Frailty Index for Coronary Artery Disease foi desenvolvido para uso no cuidado cardiovascular de idosos. O Frailty Index for Adults e o Maastricht Frailty Screening Tool for Hospitalized Patients foram desenvolvidos para uso no Processo de Enfermagem. Conclusão: apesar de apenas um instrumento ter sido desenvolvido para o idosos com doença cardiovascular e apenas dois serem aplicáveis ao processo de enfermagem, a maioria deles tem potencial de adaptação e validação para uso nesta população durante a avaliação de enfermagem.


Objective: to identify which tools are available for multidimensional frailty assessment of older adult with cardiovascular disease and which are potentially applicable during the Nursing Process. Method: a systematic review conducted in eight databases/portals to identify studies that presented multidimensional frailty assessment tools for older adult with cardiovascular disease and that were applicable to the nursing process. Results: a total of 19 multidimensional tools were included. The Brief Frailty Index for Coronary Artery Disease was developed for use in the cardiovascular care of older adult. The Frailty Index for Adults and the Maastricht Frailty Screening Tool for Hospitalized Patients were developed for use in the Nursing Process. Conclusion: although only one tool was developed for older adults with cardiovascular disease and only two are applicable to the nursing process, most of them have the potential to be adapted and validated for use in this population during nursing assessment.


Objetivo: identificar qué instrumentos están disponibles para la evaluación multidimensional de la fragilidad en personas mayores con enfermedad cardiovascular, que se puedan aplicar en el Proceso de Enfermería. Método: revisión sistemática realizada en ocho bases de datos/portales, para identificar estudios que presentaran instrumentos multidimensionales para la evaluación de la fragilidad en adultos mayores con enfermedad cardiovascular y que fueran aplicables al proceso de enfermería. Resultados: se incluyeron 19 instrumentos multidimensionales. El Brief Frailty Index for Coronary Artery Disease se desarrolló para usarlo en el cuidado cardiovascular de las personas mayores. El Frailty Index for Adults y la Maastricht Frailty Screening Tool for Hospitalized Patients se elaboraron para ser usados en el Proceso de Enfermería. Conclusión: aunque sólo se elaboró un instrumento para adultos mayores con enfermedad cardiovascular y sólo dos son aplicables al proceso de enfermería, la mayoría de ellos tienen el potencial para ser adaptados y validados para ser usados en esa población en la evaluación de enfermería.

8.
An. psicol ; 40(2): 242-253, May-Sep, 2024. tab
Article in English | IBECS | ID: ibc-232719

ABSTRACT

Objetivo: La Escala de Fatiga de Chalder (CFS) es una escala breve para evaluar fatiga que se utiliza en España, pero que no ha sido validada en su población. El objetivo del estudio fue adaptar y evaluar las propiedades psicométricas de la versión española de la CFS (Sp-CFS). Método: La muestra la conformaron 3,671 participantes (3.190 de la población general y 481 pacientes), con edades entre 18 y 86 años (M = 28.43; DT = 12.71), siendo el 67.6% mujeres. Las propiedades psicométricas de la escala se probaron en un diseño transversal utilizando validación cruzada (análisis factorial exploratorio y confirmatorio) y estimación de la invarianza (sexo y condición clínica). Resultados: Un modelo de cuatro factores (baja energía, problemas de sueño, problemas de concentración y disfunción cognitiva subjetiva) en lugar de un modelo original de dos factores (fatiga física y mental) proporcionó mejores índices de bondad de ajuste a los datos. La consistencia interna y la estabilidad de la escala fueron excelentes. Su validez convergente se apoyó en su asociación significativa con la ansiedad, la depresión, el estrés y los síntomas positivos y negativos del espectro de la psicosis. El instrumento no mostró diferencias significativas entre sexos ni condiciones clínicas, y discriminó entre la población general y los pacientes, obteniendo estos últimos puntajes significativamente mayores. Conclusiones: Sp-CFS es una escala fiable y válida para medir la fatiga en población general y clínica española.(AU)


Objective:The Chalder Fatigue Scale (CFS) is a brief self-report screening scale for fatigue that is used in Spain but has not been validated for the Spanish population. The aim of this study was to adapt and evalu-ate the psychometric properties of the Spanish version of the CFS (Sp-CFS). Method:The sample consisted of 3,671 participants (3,190 from the general population and 481 patients), aged 18 to 86 years (M=28.43; DT=12.71), 67.6% of whom were women. Psychometric properties of the scale were tested in a cross-sectional design using cross-validation (explora-tory and confirmatory factor analysis) and estimation of invariance (sex and clinical condition). Results:A four-factor model (low energy, sleep problems, concentration problems and subjective cognitive dysfunction) rather than an original two-factor model (physical and mental fatigue) pro-vided better indices of goodness of fit to the data. The internal consistencyand stability of the scale were excellent. Its convergent validity was sup-ported by its significant association with anxiety, depression, stress, and the positive and negative symptoms of the psychosis spectrum. The instru-ment did not show significant differences between sexes or clinical condi-tions, and it discriminated between the general population and the patients, with the latter obtaining significantly greater scores. Conclusions: Sp-CFS is a reliable and valid scale for measuring a transdiagnostic construct such as fatigue in Spanish general and clinical populations.(AU)


Subject(s)
Humans , Male , Female , Psychometrics , Fatigue , Cognitive Dysfunction , Attention , Spain , Psychology , Cross-Sectional Studies
9.
J Pak Med Assoc ; 74(6): 1067-1073, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38948973

ABSTRACT

Objectives: To evaluate serum prolactin and macroprolactin levels in patients on long-term proton pump inhibitors therapy. METHODS: The cross-sectional study was conducted from January 2018 to November 2019 after approval from the ethics review committee of the Commission on Science and Technology for Sustainable Development in the South University, Abbottabad, Pakistan. The study included patients from two gastroenterology outpatient clinics in the Khyber Pakhtunkhwa province using proton pump inhibitors for ≥3 months either alone or in combination with either histamine receptor antagonists or prokinetics. Blood samples were collected from each patient for hormonal screening. Data was analysed using SPSS 25. RESULTS: Of the 166 patients, 101(60.8%) were females and 65(39.2%) were males. The overall mean age was 42.5±14.2 years, and the median serum prolactin level was 23.2ng/ml (interquartile range: 14.0-38.0ng/ml). There were 96(58%) patients with normoprolactinaemia and 70(42%) with hypreprolactinaemia. There were 19(11.4%) patients using combination therapy, while the rest were on proton pump inhibitors monotherapy. There was a significant increase in serum prolactin level with combination therapy compared to monotherapy (p=0.001). Patients having treatment duration 11-20 months (p=0.006) and >40 months (p=0.001) were at high risk of developing hyperprolactinaemia. CONCLUSIONS: Long-term use of proton pump inhibitors could increase serum prolactin levels, and appropriate evaluation is essential for clinical management.


Subject(s)
Hyperprolactinemia , Prolactin , Proton Pump Inhibitors , Humans , Proton Pump Inhibitors/therapeutic use , Proton Pump Inhibitors/adverse effects , Female , Cross-Sectional Studies , Male , Hyperprolactinemia/epidemiology , Hyperprolactinemia/chemically induced , Hyperprolactinemia/blood , Hyperprolactinemia/drug therapy , Prolactin/blood , Adult , Middle Aged , Pakistan/epidemiology , Prevalence
10.
J Pak Med Assoc ; 74(6): 1074-1078, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38948974

ABSTRACT

Objectives: To evaluate the under-nutrition risk of children admitted to hospitals using a validated tool. METHODS: The cross-sectional study was conducted from September 2017 to June 2018 in the paediatrics wards of a tertiary referral paediatric government hospital, a tertiary teaching hospital and a government district hospital in Malaysia. The sample comprised paediatric patients aged 2-12 years within 24-72 hours of hospital admission. Data was collected using the 3-Minute Nutrition Screening-Paediatrics tool. Data was analysed using SPSS 20. RESULTS: Of the 341 patients screened, 284(83.3%) were included; 170(59.9%) boys and 114(40.1%) girls. The overall median age was 4.85 years (interquartile range: 4.33 years). The median length of hospital stay was 3 days (interquartile range: 3 days). There were 72(25.4%) participants at high under-nutrition risk, with the highest proportion being at the district government hospital 31(33%). Among those with high risk, 5.4% subjects had severe acute malnutrition, 9.7% had severe chronic malnutrition, and 11.1% had severe thinness. Conclusion: The 3-Minute Nutrition Screening-Paediatrics scale was found to be effective as a nutrition screening tool for hospitalised children in Malaysia.


Subject(s)
Hospitalization , Nutrition Assessment , Humans , Female , Male , Malaysia/epidemiology , Child, Preschool , Child , Cross-Sectional Studies , Hospitalization/statistics & numerical data , Child Nutrition Disorders/epidemiology , Child Nutrition Disorders/diagnosis , Length of Stay/statistics & numerical data , Nutritional Status , Malnutrition/diagnosis , Malnutrition/epidemiology , Mass Screening/methods , Mass Screening/statistics & numerical data , Thinness/epidemiology , Risk Assessment/methods
11.
J Pak Med Assoc ; 74(6): 1136-1143, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38948986

ABSTRACT

Organic acid disorders are rare inherited metabolic disorders of key metabolic pathways. For the identification of specific organic acids, investigation of urinary metabolites and genetic testing are required through newborn screening programmes. Delayed diagnosis leads to complications, such as cardiac attacks, respiratory problems, neuro-developmental disorders, intellectual disability, and even premature death. The burden of such inherited disorders is quite high in developing countries of South Asia due to high rate of consanguinity in the region. Unfortunately, such disorders are left untreated due to the lack of screening facilities in such countries. The current narrative review was planned to highlight the urgent need for closing this gap and implementing effective newborn screening programmes for organic acid disorders in developing countries. The implementation of effective programmes is crucial for reducing morbidity and mortality, and for improving the quality of life for the affected children and of their families, thus promoting global health equity.


Subject(s)
Developing Countries , Neonatal Screening , Humans , Neonatal Screening/methods , Infant, Newborn , Metabolism, Inborn Errors/diagnosis , Metabolism, Inborn Errors/epidemiology , Amino Acid Metabolism, Inborn Errors/diagnosis
12.
J Pak Med Assoc ; 74(6): 1167-1171, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38948992

ABSTRACT

Giant cell tumour is a growth predominantly found in long bones of the body. Giant cell tumour has a rare occurrence in the head and neck. A case of a 31 year old male with no known comorbidities at the ENT Department, Shifa International Hospital, Islamabad presented with anterior neck swelling and hoarseness of voice. Patient was diagnosed as having Giant Cell Tumour of Larynx (GTCL) proven on FNA cytology and post-operative biopsy. GCTL is an uncommon entity with only 45 reported cases in the world.


Subject(s)
Giant Cell Tumors , Laryngeal Cartilages , Laryngeal Neoplasms , Humans , Male , Laryngeal Neoplasms/pathology , Laryngeal Neoplasms/surgery , Laryngeal Neoplasms/diagnosis , Adult , Giant Cell Tumors/surgery , Giant Cell Tumors/pathology , Giant Cell Tumors/diagnosis , Laryngeal Cartilages/pathology , Hoarseness/etiology
13.
J Pak Med Assoc ; 74(6): 1172-1174, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38948993

ABSTRACT

The most common twin ectopic pregnancy is heterotopic (1/7000). We are reporting a rare case of twin tubo-ovarian ectopic pregnancy, which was presented in the emergency department of Ayub Teaching Hospital Abbottabad. A 30- year-old female arrived with worsening lower abdominal pain persisting for three weeks. She also had per-vaginal bleeding with passage of clots 1week ago. Clinical examination revealed a tense abdomen with tenderness in the left iliac fossa. Per-vaginally, there was cervical motion tenderness and fullness in the posterior fornix. Beta HCG level revealed a sub-optimal rise whereas Transabdominal ultrasound showed an echogenic shadow in the left ovary. The uterus appeared normal. On exploratory laparotomy a large left ovarian mass was seen with ruptured chronic right tubal pregnancy with adhesions. On cut-section of the ovary, a small foetus was evident. We have concluded that in case of subacute abdominal pain and an-echogenic mass on ultrasonography in reproductive age contralateral adnexa should be accessed to exclude contralateral ectopic pregnancy.


Subject(s)
Pregnancy, Ovarian , Pregnancy, Tubal , Pregnancy, Twin , Humans , Female , Pregnancy , Adult , Pregnancy, Tubal/surgery , Pregnancy, Tubal/diagnosis , Pregnancy, Tubal/diagnostic imaging , Pregnancy, Ovarian/diagnosis , Pregnancy, Ovarian/surgery , Abdominal Pain/etiology , Ultrasonography/methods
14.
J Pak Med Assoc ; 74(6): 1183-1186, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38948997

ABSTRACT

Isolated Left Ventricular Non-compaction (LVNC) is a type of cardiomyopathy that usually has a genetic origin. Its diagnosis is based on finding such as deep intertrabecular recesses or sinusoids and ventricular trabeculations communicating with the left ventricular cavity. LVNC was first clinically recognised almost four decades ago, yet its diagnostic and management challenges persist. In this report, we present the case of an 18-year-old boy, who presented at the National Institute of Cardiovascular Diseases, Karachi, in March 2023, with complaints of dizziness, pedal oedema, and shortness of breath. Echocardiography revealed signs suggestive of LVNC, which were confirmed conclusively on Cardiovascular Magnetic Resonance (CMR) (NC/C ratio>2.4). The patient underwent implantable cardioverter defibrillator (ICD) placement, was discharged after a smooth post-procedure recovery, and is doing well on follow-ups. Hence, ICD and guideline-directed medical therapy as a combination have turned out to have satisfactory outcomes in decreasing morbidity and providing mortality benefits for such patients.


Subject(s)
Defibrillators, Implantable , Echocardiography , Isolated Noncompaction of the Ventricular Myocardium , Humans , Male , Adolescent , Isolated Noncompaction of the Ventricular Myocardium/therapy , Isolated Noncompaction of the Ventricular Myocardium/diagnosis , Dyspnea/etiology , Dizziness/etiology
15.
J Pak Med Assoc ; 74(6): 1175-1177, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38948994

ABSTRACT

Common variable immunodeficiency (CVID) is the most prevalent primary immunodeficiency disorder with different phenotypes and aetiologies. It is characterised by hypogammaglobulinaemia, defects in specific antibody response, erroneous activation and proliferation of T cells, leading to increased risk of recurrent infections. In CVID, "Variable" refers to the heterogeneity of clinical presentations, which include recurrent infections, autoimmunity, enteropathy, and increased risk of malignancies. This wide spectrum of disease manifestations and being a diagnosis of exclusion poses a diagnostic challenge. It is pertinent to mention that CVID along with associated complications is the commonest symptomatic primary antibody deficiency but is scarcely mentioned in local literature. The main aim of presenting this case is to impress upon the importance of systematic immunological workup in cases of suspected immunodeficiency to prevent morbidity and mortality.


Subject(s)
Common Variable Immunodeficiency , Developing Countries , Humans , Common Variable Immunodeficiency/diagnosis , Common Variable Immunodeficiency/complications , Male , Female , Adult
16.
J Pak Med Assoc ; 74(6): 1194-1196, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38949002

ABSTRACT

Liquid biopsy has multiple benefits and is used extensively in other fields of oncology, but its role in neuro-oncology has been limited so far. Multiple tumour-derived materials like circulating tumour cells (CTCs), tumour-educated platelets (TEPs), cell-free DNA (cfDNA), circulating tumour DNA (ctDNA), and miRNA are studied in CSF, blood (plasma, serum) or urine. Large and complex amounts of data from liquid biopsy can be simplified by machine learning using various algorithms. By using this technique, we can diagnose brain tumours and differentiate low versus highgrade glioma and true progression from pseudo-progression. The potential of liquid biopsy in brain tumours has not been extensively studied, but it has a bright future in the coming years. Here, we present a literature review on the role of machine learning in liquid biopsy of brain tumours.


Subject(s)
Brain Neoplasms , Machine Learning , Neoplastic Cells, Circulating , Humans , Liquid Biopsy/methods , Brain Neoplasms/diagnosis , Brain Neoplasms/pathology , Neoplastic Cells, Circulating/pathology , Circulating Tumor DNA/blood , Glioma/pathology , Glioma/diagnosis , Biomarkers, Tumor/blood , MicroRNAs/blood
17.
J Pak Med Assoc ; 74(6): 1178-1179, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38948995

ABSTRACT

Congenital eyelid imbrication syndrome (CEIS) is a rare condition presenting at birth and is characterised by overriding of the upper lid on the lower lid. It is due to longer upper lid, than the lower lid. Overriding leads to spontaneous eversion of the upper lids. In our patient, examination revealed canthal tendon laxity and hyperaemia of the tarsal conjunctiva. All the rest of the structures in the eyeball and adnexa were normal. Spontaneous eversion occurred in two weeks as the upper lid grew with time. No treatment was required.


Subject(s)
Eyelids , Humans , Pakistan/epidemiology , Eyelids/abnormalities , Female , Male , Eyelid Diseases/congenital , Eyelid Diseases/diagnosis , Infant, Newborn
18.
J Pak Med Assoc ; 74(6): 1187-1188, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38948998

ABSTRACT

This communication defines and describes the novel concept of endocrine entropy. The authors share insights regarding the various facets of entropy in endocrine epidemiology, physiology, clinical presentation and management. The discussion opens up a new way of approaching endocrinology. Recent advances in artificial intelligence, assessment and addressal of entropy may become integral part of endocrine diagnostics and therapeutics.


Subject(s)
Endocrine System Diseases , Entropy , Humans , Endocrine System Diseases/therapy , Endocrine System Diseases/diagnosis , Endocrinology , Artificial Intelligence
19.
J Pak Med Assoc ; 74(6): 1187-1188, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38948999

ABSTRACT

This communication defines and describes the novel concept of endocrine entropy. The authors share insights regarding the various facets of entropy in endocrine epidemiology, physiology, clinical presentation and management. The discussion opens up a new way of approaching endocrinology. Recent advances in artificial intelligence, assessment and addressal of entropy may become integral part of endocrine diagnostics and therapeutics.


Subject(s)
Endocrine System Diseases , Entropy , Humans , Endocrine System Diseases/therapy , Endocrine System Diseases/diagnosis , Endocrinology , Artificial Intelligence
20.
J Pak Med Assoc ; 74(6): 1207-1209, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38949009

ABSTRACT

Idiopathic pulmonary fibrosis (IPF) is the most common progressive form of interstitial lung disease (ILD) that leads to gradual deterioration of lung function and ultimately death. Data from low- and middle-income countries (LMIC) on IPF is scarce. In this communication, we report the challenges encountered in managing IPF from Pakistan's largest tertiary care centre. A total of 108 patients with IPF were evaluated at the Aga Khan University Hospital in Karachi, Pakistan from January 2017 to March 2020. A significant concern was that most patients with IPF presented late during their disease. A bigger challenge encountered in clinical practice was the cost and nonavailability of antifibrotic therapy in the country until mid-2020. Successfully addressing these limitations, it is anticipated that better care will be available for the patients suffering from IPF in this part of the world.


Subject(s)
Developing Countries , Idiopathic Pulmonary Fibrosis , Humans , Idiopathic Pulmonary Fibrosis/therapy , Idiopathic Pulmonary Fibrosis/diagnosis , Pakistan , Female , Male , Middle Aged , Aged , Antifibrotic Agents/therapeutic use , Pyridones/therapeutic use , Health Services Accessibility , Lung Transplantation , Indoles
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