1.Developing a polygenic risk score for pelvic organ prolapse: a combined risk assessment approach in Chinese women.
Xi CHENG ; Lei LI ; Xijuan LIN ; Na CHEN ; Xudong LIU ; Yaqian LI ; Zhaoai LI ; Jian GONG ; Qing LIU ; Yuling WANG ; Juntao WANG ; Zhijun XIA ; Yongxian LU ; Hangmei JIN ; Xiaowei ZHANG ; Luwen WANG ; Juan CHEN ; Guorong FAN ; Shan DENG ; Sen ZHAO ; Lan ZHU
Frontiers of Medicine 2025;19(4):665-674
Pelvic organ prolapse (POP), whose etiology is influenced by genetic and clinical risk factors, considerably impacts women's quality of life. However, the genetic underpinnings in non-European populations and comprehensive risk models integrating genetic and clinical factors remain underexplored. This study constructed the first polygenic risk score (PRS) for POP in the Chinese population by utilizing 20 disease-associated variants from the largest existing genome-wide association study. We analyzed a discovery cohort of 576 cases and 623 controls and a validation cohort of 264 cases and 200 controls. Results showed that the case group exhibited a significantly higher PRS than the control group. Moreover, the odds ratio of the top 10% risk group was 2.6 times higher than that of the bottom 10%. A high PRS was significantly correlated with POP occurrence in women older than 50 years old and in those with one or no childbirths. As far as we know, the integrated prediction model, which combined PRS and clinical risk factors, demonstrated better predictive accuracy than other existing PRS models. This combined risk assessment model serves as a robust tool for POP risk prediction and stratification, thereby offering insights into individualized preventive measures and treatment strategies in future clinical practice.
Humans
;
Female
;
Pelvic Organ Prolapse/epidemiology*
;
Middle Aged
;
Risk Assessment/methods*
;
China/epidemiology*
;
Multifactorial Inheritance
;
Aged
;
Risk Factors
;
Genome-Wide Association Study
;
Genetic Predisposition to Disease
;
Case-Control Studies
;
Adult
;
Polymorphism, Single Nucleotide
;
Genetic Risk Score
;
East Asian People
3.Taking on the challenge: A case study on a community health club for noncommunicable disease control.
Louricha A. Opina-Tan ; Geohari L. Hamoy
Acta Medica Philippina 2024;58(13):29-38
BACKGROUND
From 2013 to 2021, the University of the Philippines Community Health and Development Program (UP CHDP) was in partnership with Cavite and its five municipalities of Alfonso, Mendez, Indang, General Emilio Aguinaldo, and Amadeo (AMIGA). They aimed to improve the control of hypertension and diabetes through interventions such as the organization of community health clubs, as recommended by the Department of Health in 2016. Currently there is limited information on the experiences and outcomes related to this strategy. Data on this can help the community and public health institutions in understanding and maximizing the benefits of organizing community health clubs for noncommunicable disease control.
OBJECTIVESThis study aimed to determine a community health club’s membership profile, its organization and maintenance processes, and the benefits, challenges, and enabling factors experienced.
METHODSThis case study-mixed method was done in 2020 on the Challengers Health Club in Alfonso, Cavite. Group interviews of the club officers and barangay health workers were conducted to explore the club processes, their perceived benefits, challenges, and enabling factors. Health records were reviewed to determine the club’s membership profile.
RESULTSThe community health club showed an increase in membership since it was established. Most members are elderly, female, non-smoker, and hypertensive. There was increase in proportion of members with controlled hypertension after two years. However, this was not observed among those with diabetes. Perceived benefits for members were free, regular, and accessible services, improved knowledge and better control of their condition, and opportunity to socialize with others. Enabling factors were partnership with UP, teamwork and dedication of club leaders, effective management, and community support. The limited funding and supply of medicines, discontinuation of deployment of UP partners, and the COVID-19 pandemic were the challenges identified by the club.
CONCLUSIONThis study described the experiences of a community health club established to control hypertension and diabetes. Benefits of this intervention were reported despite the challenges they encountered because of the support mechanisms that were in place.
Noncommunicable Diseases ; Case Study
4.Understanding perceptions and experiences on acceptability of oral ivermectin, topical permethrin, and their combination in the treatment of adult Filipino patients with scabies: A multiple case study.
Rowena F. Genuino ; Ma. Christina Filomena R. Batac ; Alena Marie B. Mariano ; Ma. Carla E. Buenaflor ; Ma. Veronica Pia N. Arevalo ; Francis R. Capule ; Fernando B. Garcia Jr. ; Mary Ann J. Ladia ; Malaya P. Santos ; Ailyn M. Yabes ; Maria Stephanie Fay S. Cagayan
Acta Medica Philippina 2024;58(17):24-41
BACKGROUND AND OBJECTIVE
Oral ivermectin, a broad-spectrum anti-parasitic drug, alone or in combination with permethrin, may be a cheaper and more convenient alternative drug to topical permethrin alone in the treatment of classic scabies. There are no previous studies on the treatment acceptability of the three interventions among individual patients with scabies in the Philippines. The purpose of this study was to understand the experiences and perceptions on treatment acceptability for oral ivermectin, topical permethrin or combination treatment among patients with scabies using the multiple-case study approach.
METHODSWe conducted a qualitative multiple case study among adult Filipino patients with classic scabies who were prescribed oral ivermectin, topical permethrin or its combination at a government tertiary hospital dermatology outpatient clinic from December 2022 to September 2023. Semi-structured interviews were used as the primary source of data and analyzed together with chart reviews, Dermatology Life Quality Index (DLQI) scores, and clinical images. Interviews were transcribed, coded, and triangulated with other secondary data. A three-person research team employed a reflexive and iterative process of familiarization, coding, and thematic analysis using a modified Theoretical Framework of Acceptability (TFA) to generate case descriptions, within-case analyses, and cross-case syntheses.
RESULTSThe acceptability of scabies treatments (permethrin, ivermectin, and combination therapy) was generally positive. Permethrin, used in three patient cases, was generally perceived as effective but itch relief varied. The burden of whole-body application of permethrin was context-dependent, influenced by living arrangements and family support. Perceived affordability of permethrin was linked to socioeconomic status. Ivermectin, used by one patient case, was perceived as highly effective with no side effects. Its single dose use did not interfere with patient routine. Combination therapy was also considered effective but potential antagonistic effects and the cost of adding permethrin made it less preferred. Reluctance in taking oral pills was noted. All patients valued medical advice and deferred to their physicians for treatment decisions.
CONCLUSION AND RECOMMENDATIONSAll three treatment options were considered effective and safe. Patients generally preferred permethrin over oral ivermectin due to its topical nature and perceived lower side effects. However, affordability and logistical challenges, especially for large households and low-income families, were noted with permethrin. Oral ivermectin elicited hesitation due to its controversial role in COVID-19 and veterinary use. Concerns about added costs and potential antagonism in combination therapy were raised. Despite these considerations, patients ultimately relied on physicians for treatment decisions. This study underscores the importance of understanding patient perspectives, experiences, and the patient-physician relationship in choosing scabies interventions. Addressing patient concerns, providing education, and ensuring ease of use and affordability can enhance treatment acceptability and adherence for better outcomes.
Human ; Scabies ; Ivermectin ; Permethrin ; Case Study ; Case Reports ; Qualitative Research
5.Writing case report and case series for family and community medicine practice.
Shiela Marie S. Laviñ ; a ; Endrik H. Sy ; Carlo Miguel G. Matanguihan
The Filipino Family Physician 2024;62(1):16-19
Case reports remain to be an essential part of knowledge generation in health care. It is a research design that involves writing about a patient’s illness with either an unusual, new, unexpected, or unique characteristic. It can be about new findings, a novel diagnostic test, unfamiliar adverse events or innovative medical and surgical interventions. It is a detailed description of a patient’s course of illness including symptoms, physical examination findings, laboratory results, treatment modalities and outcomes. The essential element of writing a case report or series is to contribute to the generation of new knowledge. Wellwritten manuscripts have a valuable purpose in medicine as they present new illness, unexpected effects of treatment, novel diagnostic exams or unforeseen patients’ outcomes. The sections of a case report include an Abstract, Introduction or Background, Case Presentation [history, physical examinations, investigations or laboratories, differential diagnosis (if relevant), treatment (if relevant), outcome/follow-up, Discussion, Learning points/Take home messages, Patients perspectives and References. Manuscripts written as case reports or case series by nature of their design are not required to get approval from an Ethics Review Board (ERB). However, there should be an institutional process to clear and register papers. Case reports or a case series has its own distinctive writing components and features as not all single or series of clinical cases are reportable. This article aimed to define case reports/series, describe the different parts, how to write and evaluate a case report manuscript using the CARE guidelines.
Case Reports ; Writing
6.How to conduct and write a case-control study.
Endrik H. Sy ; Jan Vittorio Quizon ; Noel L. Espallardo
The Filipino Family Physician 2024;62(1):37-41
A case control study is a type of observational study. In this study design, participants are selected to participate depending on their outcome status. Cases are participants with outcome of interest whereas controls are participants who do not have the outcome of interest. These studies estimate the odds ratio or the odds between the exposure and health outcome, however they cannot prove causality. Advantages of case control studies include the following: inexpensive, easy to design and implement, and are used to study rare outcomes. Case control studies are prone to certain research bias but can be addressed by the investigator through careful designing and planning. This paper describes the case control studies, their advantages, bias in case control studies and how to address them, and discuss the steps in how to conduct this type of study design.
Case-control Studies ; Odds Ratio ; Observational Study
7.Treatment Outcomes in COVID-19 Patients with Brucellosis: Case Series in Heilongjiang and Systematic Review of Literature.
Man Li YANG ; Jing Ya WANG ; Xing Yu ZONG ; Li GUAN ; Hui Zhen LI ; Yi Bai XIONG ; Yu Qin LIU ; Ting LI ; Xin Yu JI ; Xi Yu SHANG ; Hui Fang ZHANG ; Yang GUO ; Zhao Yuan GONG ; Lei ZHANG ; Lin TONG ; Ren Bo CHEN ; Yi Pin FAN ; Jin QIN ; Fang WANG ; Gang LIN ; Nan Nan SHI ; Yan Ping WANG ; Yan MA
Biomedical and Environmental Sciences 2023;36(10):930-939
OBJECTIVE:
Clinical characteristics and outcome in COVID-19 with brucellosis patients has not been well demonstrated, we tried to analyze clinical outcome in local and literature COVID-19 cases with brucellosis before and after recovery.
METHODS:
We retrospectively collected hospitalization data of comorbid patients and prospectively followed up after discharge in Heilongjiang Infectious Disease Hospital from January 15, 2020 to April 29, 2022. Demographics, epidemiological, clinical symptoms, radiological and laboratory data, treatment medicines and outcomes, and follow up were analyzed, and findings of a systematic review were demonstrated.
RESULTS:
A total of four COVID-19 with brucellosis patients were included. One patient had active brucellosis before covid and 3 patients had nonactive brucellosis before brucellosis. The median age was 54.5 years, and all were males (100.0%). Two cases (50.0%) were moderate, and one was mild and asymptomatic, respectively. Three cases (75.0%) had at least one comorbidity (brucellosis excluded). All 4 patients were found in COVID-19 nucleic acid screening. Case C and D had only headache and fever on admission, respectively. Four cases were treated with Traditional Chinese medicine, western medicines for three cases, no adverse reaction occurred during hospitalization. All patients were cured and discharged. Moreover, one case (25.0%) had still active brucellosis without re-positive COVID-19, and other three cases (75.0%) have no symptoms of discomfort except one case fell fatigue and anxious during the follow-up period after recovery. Conducting the literature review, two similar cases have been reported in two case reports, and were both recovered, whereas, no data of follow up after recovery.
CONCLUSION
These cases indicate that COVID-19 patients with brucellosis had favorable outcome before and after recovery. More clinical studies should be conducted to confirm our findings.
Female
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Humans
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Male
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Middle Aged
;
Brucellosis
;
COVID-19
;
Retrospective Studies
;
SARS-CoV-2
;
Treatment Outcome
;
Case Reports as Topic
8.A life‑threatening benign vascular lesion of the uterus, cavernous hemangioma: A case report
Maria Lalaine Aviles Miranda ; Eleyneth Ilagan Valencia
Philippine Journal of Obstetrics and Gynecology 2023;47(5):283-290
The objective of this clinical report is to present the first local case of rare cavernous uterine
hemangioma. This is a case of a 28‑year‑old G2P1 (1001) during her first trimester of pregnancy
who was admitted to our institution for the second time due to profuse vaginal bleeding and
severe anemia. The transvaginal scan revealed an embryonic demise of 8 weeks age of gestation
noted at the endocervical canal. There is a posterofundal heterogeneous mass measuring
6.3 cm × 5.7 cm × 5.0 cm (volume: 94.2 ml) with multiple cystic spaces, which on Doppler studies
showed abundant vascularity suggestive of uterine hemangioma. Antifibrinolytics were administered.
The patient underwent emergency hysterectomy with bilateral salpingectomy due to profuse
vaginal bleeding with histopathology result of cavernous hemangioma of the uterus. Cavernous
uterine hemangioma is a rare vascular lesion that poses a great challenge in the diagnosis and
management. There were limited published articles regarding cavernous hemangioma of the uterus.
There were conservative treatment options such as uterine artery embolization, the use of hormonal
oral contraception, intralesional glucocorticoid therapy, the use of interferon‑α, laser therapy, and
surgical excision. Hysterectomy is the definitive treatment for intractable bleeding. It is recommended
to establish an international registry for this rare case. The experts in different specialties such as
obstetrician‑gynecologists, interventional radiologists, and vascular surgeons, can also formulate
an algorithm for its diagnosis and treatment.
Case Reports
;
Hemangioma
;
Vascular Malformations
9.A MULTIDISCIPLINARY APPROACH TO MANAGING BIMAXILLARY HYPERHYPODONTIA: A CASE REPORT
Mohd Isyrafuddin Bin Ismail ; Siti Hajar Hamzah ; Alaa Sabah Hussein ; Syed Bazli Alwi Syed Bakhtiar Ariffin ; Mohd Kherman Suparman ; Ilham Wan Mokhtar ; Mas Suryalis Ahmad
Journal of University of Malaya Medical Centre 2023;26(1):179-184
Bimaxillary hyperhypodontia (BHH) is a very rare numeric anomaly with a prevalence of 0.002% to 3.1% described by the presence of a supernumerary tooth in the premaxilla region and a missing mandibular incisor tooth. This case highlights the multidisciplinary management of a child presenting with BHH who complies with the recommended protocol by surgically removing the supernumerary tooth and then proceeding with orthodontic treatment for function and aesthetics. A 9-year-old healthy Malay boy presented with a fully erupted tooth 21, a labially palpable bulge of unerupted tooth 11, a missing tooth 32, and a tendency for an anterior and posterior crossbite. The radiographs showed an inverted, unerupted, conical-shaped supernumerary tooth overlapping the unerupted tooth 11 and hypodontia of tooth 32. The management was surgical removal of the supernumerary tooth and the placement of an upper removable appliance with a palatal expansion screw followed by comprehensive fixed orthodontics.
Case Reports [Publication Type]
10.Research Progressin Single Nucleotide Polymorphism of Vitiligo Susceptibility Gene.
Acta Academiae Medicinae Sinicae 2022;44(5):906-913
Vitiligo is a depigmentation disease affected by a variety offactors,of which genetic factors play a key role.Single nucleotide polymorphism as a common type of genetic variation can be detected by candidate gene analysis and genome-wide association study.The recent studies have demonstrated that multiple susceptibility genes play a vital role in the occurrence and development of vitiligo.This article introduces the single nucleotide polymorphisms of vitiligo susceptibility genes according to the gene functions.
Humans
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Polymorphism, Single Nucleotide
;
Vitiligo/epidemiology*
;
Genome-Wide Association Study
;
Genetic Predisposition to Disease
;
Case-Control Studies


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