Rubinstein-Taybi Syndrome in a Filipino Infant with a Novel Gene Pathogenic Variant.

Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder characterized by dysmorphic facial features, broad thumbs and halluces, intellectual disability, and postnatal growth retardation. This report presents a male infant with microcephaly and characteristic facial features, namely, low anterior hairline, hirsutism, thin upper lip and micrognathia, broad thumbs and first toes, cryptorchidism, recurrent pneumonia, developmental delay, and growth retardation. Genetic testing showed a novel pathogenic variant in the gene which is consistent with the clinical diagnosis of RSTS.

Comparison of Different Laboratory Tests to Identify "Aspirin Resistance" and Risk of Vascular Events among Ischaemic Stroke Patients: A Double-Blind Study.

"Aspirin resistance" (AR) is associated with increased risk of vascular events. We aimed to compare different platelet function tests used in identifying AR and assess their implications on clinical outcome. We performed platelet aggregation studies on non-cardioembolic ischaemic stroke patients taking aspirin 100 mg/day and 30 non-stroke controls.

Artificial neural network in the discrimination of lung cancer based on infrared spectroscopy.

Given the increasing prevalence of lung cancer worldwide, an auxiliary diagnostic method is needed alongside the microscopic examination of biopsy samples, which is dependent on the skills and experience of pathologists. Thus, this study aimed to advance lung cancer diagnosis by developing five (5) artificial neural network (NN) models that can discriminate malignant from benign samples based on infrared spectral data of lung tumors (n = 122; 56 malignant, 66 benign). NNs were benchmarked with classical machine learning (CML) models.

'Not at target': prevalence and consequences of inadequate disease control in systemic lupus erythematosus-a multinational observational cohort study.

Background: The unmet need in systemic lupus erythematosus (SLE) with the current standard of care is widely recognised, but few studies have quantified this. The recent definition of treat-to-target endpoints and other thresholds of uncontrolled disease activity provide an opportunity to formally define unmet need in SLE. In this study, we enumerated the prevalence of these states and examined their association with adverse outcomes.

Phase 1/2 trial evaluating the effectiveness and safety of dose-adapted Hypofractionated pelvic radiotherapy for Advanced Cervical cancers INeligible for ChemoTherapy (HYACINCT).

Background: The standard treatment for locally advanced cervical cancer (LACC) is concurrent chemoradiation (CRT) followed by brachytherapy (BRT). The addition of chemotherapy (ChT) to radiotherapy (RT) is associated with a 7.5% improvement in overall survival but with more grade 3-4 acute toxicities (16.

Calpainopathy (Leyden-Mobius Limb-Girdle Muscular Dystrophy Type 2A Phenotype) and Dysferlinopathy (Miyoshi Distal Myopathy Limb-Girdle Muscular Dystrophy Type 2B Phenotype) of Preadolescent Onset: Case Reports of Two Male Filipinos.

Limb-girdle muscle dystrophy (LGMD) is the fourth most common genetic cause of muscle weakness, with LGMD type 2A (LGMD2A) being one of the most common adult-onset muscular dystrophies presenting with limb-girdle weakness, while LGMD type 2B (LGMD2B) being the most common distal myopathy. This study includes two cases. The first case is a 13-year-old male, with no family history of similar symptoms, who presented with lower extremity weakness at the age of nine, starting with proximal weakness of the lower extremities, progressively involving the upper extremities.

Detection of breast cancer by ATR-FTIR spectroscopy using artificial neural networks.

In this study, three (3) neural networks (NN) were designed to discriminate between malignant (n = 78) and benign (n = 88) breast tumors using their respective attenuated total reflection Fourier transform infrared (ATR-FTIR) spectral data. A proposed NN-based sensitivity analysis was performed to determine the most significant IR regions that distinguished benign from malignant samples. The result of the NN-based sensitivity analysis was compared to the obtained results from FTIR visual peak identification.

Orbital mold brachytherapy for recurrent orbital mesenchymal chondrosarcoma: a case report.

Purpose: The aim of this case report is to present a case of orbital mesenchymal chondrosarcoma sarcoma with multiple recurrences, and to report technical details of a contemporary approach for orbital brachytherapy that can be used in low-resource settings.

Material And Methods: A 46-year-old female diagnosed with recurrent orbital mesenchymal chondrosarcoma of the left orbit presented with her third local recurrence. The patient proceeded with conservative surgery with planned adjuvant high-dose-rate brachytherapy 2 weeks post-surgery.

Post-Vasectomy Semen Analysis: Optimizing Laboratory Procedures and Test Interpretation through a Clinical Audit and Global Survey of Practices.

Purpose: The success of vasectomy is determined by the outcome of a post-vasectomy semen analysis (PVSA). This article describes a step-by-step procedure to perform PVSA accurately, report data from patients who underwent post vasectomy semen analysis between 2015 and 2021 experience, along with results from an international online survey on clinical practice.

Materials And Methods: We present a detailed step-by-step protocol for performing and interpretating PVSA testing, along with recommendations for proficiency testing, competency assessment for performing PVSA, and clinical and laboratory scenarios.

Antisperm Antibody Testing: A Comprehensive Review of Its Role in the Management of Immunological Male Infertility and Results of a Global Survey of Clinical Practices.

Antisperm antibodies (ASA), as a cause of male infertility, have been detected in infertile males as early as 1954. Multiple causes of ASA production have been identified, and they are due to an abnormal exposure of mature germ cells to the immune system. ASA testing (with mixed anti-globulin reaction, and immunobead binding test) was described in the WHO manual 5th edition and is most recently listed among the extended semen tests in the WHO manual 6th edition.

Lewy body disease or diseases with Lewy bodies?

The current nosological concept of α-synucleinopathies characterized by the presence of Lewy bodies (LBs) includes Parkinson's disease (PD), Parkinson's disease dementia (PDD), and dementia with Lewy bodies (DLB), for which the term "Lewy body disease" (LBD) has recently been proposed due to their considerable clinical and pathological overlap. However, even this term does not seem to describe the true nature of this group of diseases. The subsequent discoveries of α-synuclein (αSyn), SNCA gene, and the introduction of new immunohistochemical methods have started intensive research into the molecular-biological aspects of these diseases.

A Cross-Cultural Validation of the Filipino and Hiligaynon Versions of the Parts IIIB (Non-Motor Features) and IV (Activities of Daily Living) of the X-Linked Dystonia-Parkinsonism- MDSP Rating Scale.

Introduction: X-linked dystonia-parkinsonism (XDP) is a progressive movement disorder which also encompasses non-motor features and alterations in activities of daily living. The study aims to translate the Parts IIIB (Non-Motor Features) and IV (Activities of Daily Living) of the XDP-Movement Disorder Society of Philippines Rating Scale to Filipino and Hiligaynon and subsequently validate these versions, which are more understandable to the natives given that XDP originated from the Panay Islands in the Philippines.

Methods: This is a cross-cultural, cross-sectional validation study, composed of the following steps: forward translation, backward translation, panel reconciliation, pretesting, and field testing.

A mixed-ethnicity myoclonus-dystonia patient with a novel SGCE nonsense mutation: a case report.

Background: Myoclonus-dystonia is a rare movement disorder with an autosomal dominant inheritance pattern characterized by a combination of myoclonic jerks and dystonia that may have psychiatric manifestations. Our aim is to present neurologic and psychiatric phenotypic characteristics in the first Filipino bi-ethnic myoclonus-dystonia patient and her father.

Case Presentation: We investigated a Filipino myoclonus-dystonia patient with a positive family history.

Endoluminal vacuum therapy in the management of an esophago-pleural fistula as a complication of Boerhaave syndrome in a patient with eosinophilic esophagitis.

Background: Boerhaave syndrome is an uncommon condition that represents about 15% of all esophageal perforation. A subset of these patients has eosinophilic esophagitis, a chronic inflammatory disease of the esophagus, that carries a risk of perforation of about 2%. Esophageal perforations can rarely result in the development of an esophago-pleural fistula.

2021 DORIS definition of remission in SLE: final recommendations from an international task force.

Objective: To achieve consensus on a definition of remission in SLE (DORIS).

Background: Remission is the stated goal for both patient and caregiver, but consensus on a definition of remission has been lacking. Previously, an international task force consisting of patient representatives and medical specialists published a framework for such a definition, without reaching a final recommendation.

May Measurement Month 2019: an analysis of blood pressure screening results in the Philippines.

The Philippine Society of Hypertension (PSH) took part again in the annual May Measurement Month 2019 (MMM19) blood pressure (BP) measurement campaign to raise awareness of hypertension especially in those who are not aware of their condition. The MMM19 standard protocol designed by the International Society of Hypertension was used during screening. These included the collection of basic data on demography, lifestyle, and environmental factors.

Pain in cervical dystonia: mechanisms, assessment and treatment.

Introduction: In patients with cervical dystonia (CD), pain is a major contributor to disability and social isolation and is often the main reason patients seek treatment. Surveys evaluating patient perceptions of their CD symptoms consistently highlight pain as a troublesome and disabling feature of their condition with significant impact on daily life and work.

Areas Covered: In this article, the authors review the epidemiology, assessment, possible mechanisms and treatment of pain in CD, including a meta-analysis of randomized controlled trial data with abobotulinumtoxinA.

Distribution of triggers foci and outcomes of catheter ablation in atrial fibrillation patients in different age groups.

Background: Atrial fibrillation (AF) prevalence increases with age. Aging affects the substrate properties of the left atrium (LA) and the outcomes of catheter ablation for treating AF. We investigated the AF trigger distribution and catheter ablation outcomes in patients of different ages with AF.

Normal Baseline Values for Isometric Shoulder Strength in Scaption for Healthy Filipino Individuals in the 20-30 year Age Group.

Introduction: Isometric shoulder strength is vital in the management of individuals suffering from shoulder diseases such as rotator cuff tears. Normal values for the working Filipino population who are at risk of developing shoulder problems are lacking. The objective of this study was to determine the isometric baseline isometric shoulder strengths in scaption of healthy Filipino individuals aged 20-30 years old without a history of a shoulder injury.

Rheumatoid arthritis management in the APLAR region: Perspectives from an expert panel of rheumatologists, patients and community oriented program for control of rheumatic diseases.

Rheumatoid arthritis (RA) is a major health burden in Asia Pacific affecting the quality of life of patients and consuming healthcare resources. According to recent estimates from the World Health Organization-International League Against Rheumatism-Community Oriented Program for Control of Rheumatic Diseases, prevalence is around 0.3%-0.

Executive summary of the 2020 clinical practice guidelines for the management of hypertension in the Philippines.

Hypertension is the most common cause of death and disability worldwide with its prevalence rising in low to middle income countries. It remains to be an important cause of morbidity and mortality in the Philippines with poor BP control as one of the main causes. Different societies and groups worked and collaborated together to develop the 2020 Philippine Clinical Practice Guidelines of hypertension arising for the need to come up with a comprehensive local practice guideline for the diagnosis, treatment, and follow up of persons with hypertension.