Index case
View article: Child-parent cascade screening for familial hypercholesterolemia in Slovenia
Child-parent cascade screening for familial hypercholesterolemia in Slovenia Open
View article: Diagnostic and Management Complexities in Epilepsia Partialis Continua: A Case Series
Diagnostic and Management Complexities in Epilepsia Partialis Continua: A Case Series Open
Epilepsia Partialis Continua (EPC) is a variant of focal motor status epilepticus wherein frequent repetitive, usually rhythmic muscle jerks continue over prolonged periods of time. EPC can occur because of any space-occupying lesion, vasc…
View article: Characteristics of contact persons.
Characteristics of contact persons. Open
The World Health Organization recommends TB contact investigation in high-burden countries. We examined the implementation reach of two contact investigation strategies in South Africa. Kharitode TB, a cluster-randomized crossover …
View article: Large-scale field application of a fingerstick blood test for Mycobacterium leprae infection: Monitoring population-wide effects of case finding and post-exposure prophylaxis on transmission in the Comoros and Madagascar
Large-scale field application of a fingerstick blood test for Mycobacterium leprae infection: Monitoring population-wide effects of case finding and post-exposure prophylaxis on transmission in the Comoros and Madagascar Open
Since 2018, the WHO recommends provision of single-dose rifampicin post-exposure prophylaxis (SDR-PEP) to contacts of leprosy patients. In the Post-ExpOsure Prophylaxis for LEprosy (PEOPLE) trial that took place in the Comoros (Anjouan and…
View article: Inclusivity in global research.
Inclusivity in global research. Open
Since 2018, the WHO recommends provision of single-dose rifampicin post-exposure prophylaxis (SDR-PEP) to contacts of leprosy patients. In the Post-ExpOsure Prophylaxis for LEprosy (PEOPLE) trial that took place in the Comoros (Anjouan an…
View article: Atypical Neurological Presentation in Section Brucellosis: A Rare Case Report
Atypical Neurological Presentation in Section Brucellosis: A Rare Case Report Open
Neurobrucellosis is an atypical and grave complication of brucellosis. It can present with a wide range of neurological symptoms, often mimicking other Central Nervous System (CNS) disorders, making diagnosis challenging. The present case …
View article: Cervical Tuberculous Lymphadenitis-Scrofula in Southern Mexico — A Case Report
Cervical Tuberculous Lymphadenitis-Scrofula in Southern Mexico — A Case Report Open
Tuberculous lymphadenitis, also known as scrofula or colliquative tuberculosis, caused by Mycobacterium tuberculosis, is the most common clinical form of extrapulmonary tuberculosis. However, it is currently rare, and there are few reports…
View article: Novel PAX3 splice-site variant in a woman with Waardenburg syndrome
Novel PAX3 splice-site variant in a woman with Waardenburg syndrome Open
We report a case 36-year-women who presented with unilateral congenital sensorineural hearing loss, dystopia canthorum (W index of 2,11), complete hair hypopigmentation which started as a white forelock during puberty, complete heterochrom…
View article: Diagnostic value of the Wayne index in thyroid enlargement patients at Sultan Agung Islamic Hospital
Diagnostic value of the Wayne index in thyroid enlargement patients at Sultan Agung Islamic Hospital Open
Hyperthyroidism, a prevalent metabolic disorder, poses diagnostic challenges due to variability in clinical presentations and access to laboratory tests. Given the clinical importance of hyperthyroidism and the challenges associated with t…
View article: Comparison of the systemic inflammatory response index and the systemic immune-inflammatory index in pediatric community–acquired pneumonia caused by respiratory syncytial virus and Mycoplasma pneumoniae
Comparison of the systemic inflammatory response index and the systemic immune-inflammatory index in pediatric community–acquired pneumonia caused by respiratory syncytial virus and Mycoplasma pneumoniae Open
Objective This study aims to compare the systemic inflammatory response index (SIRI) and the systemic immune-inflammatory index (SII) in pediatric community–acquired pneumonia (CAP) caused by the respiratory syncytial virus (RSV) and Mycop…
View article: First documented extended-spectrum β-Lactamase producing escherichia coli renal abscess in Lebanon
First documented extended-spectrum β-Lactamase producing escherichia coli renal abscess in Lebanon Open
Introduction and importance: Renal abscesses in children are rare, and those caused by Extended-Spectrum β-Lactamase (ESBL)-producing Escherichia coli (E. coli) are even rarer. This report presents the first case of an ESBL-producing E. co…
View article: Fatal ornithine transcarbamylase deficiency presentation postresection of fourth ventricle ependymoma: illustrative case.
Fatal ornithine transcarbamylase deficiency presentation postresection of fourth ventricle ependymoma: illustrative case. Open
This case describes a novel presentation of late-onset OTCD triggered by posterior fossa craniectomy for resection of a fourth ventricular ependymoma-an association not previously reported in the literature. It emphasizes the importance of…
View article: 119 Plasmablastic lymphoma in an adult with monogenic Crohn’s disease and biallelic STXBP2 mutation
119 Plasmablastic lymphoma in an adult with monogenic Crohn’s disease and biallelic STXBP2 mutation Open
Introduction/Objective Plasmablastic lymphoma (PBL) is an aggressive large B-cell neoplasm with a terminal B-cell differentiation phenotype that typically arises in immunocompromised patients. In the current literature, a majority of cases…
View article: 436 DICER1-Mutated Thyroid Tumor in a Young Adult: A Case Illustrating Morphologic Complexity and Molecular Insight
436 DICER1-Mutated Thyroid Tumor in a Young Adult: A Case Illustrating Morphologic Complexity and Molecular Insight Open
Introduction/Objective Thyroid neoplasms associated with DICER1 gene alterations are uncommon but are being increasingly identified in pediatric and young adult populations. These tumors show a variable morphology and have potential geneti…
View article: The disease phenotype of CQPS-1 or <i>∆</i><i>ripAF1</i> in Col-0 and <i>fnr1 fnr2</i> mutant.
The disease phenotype of CQPS-1 or <i>∆</i><i>ripAF1</i> in Col-0 and <i>fnr1 fnr2</i> mutant. Open
(A to D) Soil-drenching inoculation of R. solanacearum wild-type strain CQPS-1 or ∆ripAF1 in Col-0 and fnr1 fnr2 mutant. (A and C) Disease index were rated daily. Each value represents the m…
View article: RipAF1 contributes to <i>R. solanacearum</i> virulence.
RipAF1 contributes to <i>R. solanacearum</i> virulence. Open
(A-D) Soil-drenching inoculation assays in N. tabacum (A and B) and N. benthamiana (C and D) with the wild-type strain CQPS-1 (WT), the RipAF1 mutant strain ∆ripAF1 and the RipAF1 com…
View article: Partial pedigree chart of the HCM family.
Partial pedigree chart of the HCM family. Open
Each individual is identified with a number and generations are indicated on the left side. Patients with hypertrophic cardiomyopathy are shown in grey, unaffected individuals are shown in white, and slashes indicate a deceased relative. T…
View article: Classification tree of the probability of an outbreak after the introduction of an asymptomatic index case at time t = 0.
Classification tree of the probability of an outbreak after the introduction of an asymptomatic index case at time t = 0. Open
PoO = probability of an outbreak (the proportion of iterations with two or more S. Dublin clinical cases following the introduction of an asymptomatic index case). Higher color saturation in the boxes indicates an increased probabil…
View article: Supplementary file 1_Tregopathy in focus.docx
Supplementary file 1_Tregopathy in focus.docx Open
Primary immune regulatory disorders are a newly coined term for a group of disorders in which autoimmune complications predominate. Herein, we present a case series of 26 patients with various regulatory T-cell (Treg) pathway defects who p…
View article: Supplementary file 2_Tregopathy in focus.docx
Supplementary file 2_Tregopathy in focus.docx Open
Primary immune regulatory disorders are a newly coined term for a group of disorders in which autoimmune complications predominate. Herein, we present a case series of 26 patients with various regulatory T-cell (Treg) pathway defects who p…
View article: The Back Burn: A Case Report of Mollaret’s Meningitis in a Young Male.
The Back Burn: A Case Report of Mollaret’s Meningitis in a Young Male. Open
Authors: Muneeba Ali, MD, Lubaba Mukhtar, MD, Warda Naqvi, MD, Muhammad Ayub, MD. Background: Today, we present the case of Mollaret’s meningitis in a 49-year-old male who was acutely distressed with a severe headache and associated back p…
View article: Characteristics of index participants (n = 27).
Characteristics of index participants (n = 27). Open
Background HIV partner notification services (PNS) have been proven safe and effective in finding undiagnosed HIV infections among general populations in settings with high HIV incidence, but have not been regularly implemented among men …
View article: Cutaneous Xanthomas in a Young Boy – Markers of Homozygous Familial Hypercholesterolemia
Cutaneous Xanthomas in a Young Boy – Markers of Homozygous Familial Hypercholesterolemia Open
Background: Homozygous familial hypercholesterolemia (HoFH) is a rare and potentially devastating, genetic cause of elevated lipid levels in children. Clinical Description: A 4-year-old boy presented with small, painless, nondischarging, n…
View article: A. Sensitivity analysis of the São Paulo Social Vulnerability Index (IPVS), the Normalized Difference Built-up Index (NDBI), and precipitation, in relation to the number of leptospirosis cases associated. Positive SRC values indicate that increases in the variable are associated with a higher number of leptospirosis cases, whereas values near zero suggest little influence on case occurrence. B. Relationship between the frequency of leptospirosis cases and distance from urban drainage.
A. Sensitivity analysis of the São Paulo Social Vulnerability Index (IPVS), the Normalized Difference Built-up Index (NDBI), and precipitation, in relation to the number of leptospirosis cases associated. Positive SRC values indicate that increases in the variable are associated with a higher number of leptospirosis cases, whereas values near zero suggest little influence on case occurrence. B. Relationship between the frequency of leptospirosis cases and distance from urban drainage. Open
A. Sensitivity analysis of the São Paulo Social Vulnerability Index (IPVS), the Normalized Difference Built-up Index (NDBI), and precipitation, in relation to the number of leptospirosis cases associated. Positive SRC values indicate that …
View article: Participants flow chart at enrolment for TB index patients and their household contacts in three high TB burden countries.
Participants flow chart at enrolment for TB index patients and their household contacts in three high TB burden countries. Open
Participants flow chart at enrolment for TB index patients and their household contacts in three high TB burden countries.
View article: Supplementary file 1_Case Report: A case of borderline lepromatous leprosy and literature review—key clues to expand clinical diagnostic thinking.doc
Supplementary file 1_Case Report: A case of borderline lepromatous leprosy and literature review—key clues to expand clinical diagnostic thinking.doc Open
Background Leprosy, also known as Hansen’s disease, is a chronic infectious disease caused by Mycobacterium leprae. It primarily affects the skin, peripheral nerves, mucous membranes, and the eyes. If left untreated, it can lead to severe …
View article: Pedigrees of the 12 families with epidermolysis bullosa (EB) patients included in this study.
Pedigrees of the 12 families with epidermolysis bullosa (EB) patients included in this study. Open
The arrow indicates the index case (proband) in each family. Panels A to L represent Families 1 to 12, respectively. Enrolled family members are shown with their corresponding genotype results. A black symbol indicates affected individuals…
View article: Description of participants included in complete case analysis and those excluded due to missing reference or index test results.
Description of participants included in complete case analysis and those excluded due to missing reference or index test results. Open
Description of participants included in complete case analysis and those excluded due to missing reference or index test results.
View article: Leprosy incidence per 10,000 population.
Leprosy incidence per 10,000 population. Open
Background The Maltalep trial in Bangladesh assessed whether single-dose rifampicin (SDR) given 8–12 weeks after bacillus Calmette–Guérin (BCG) vaccination was able to prevent excess leprosy cases due to BCG in contacts of newly diagnosed…
View article: Comparison of the Social Vulnerability Index, Area Disadvantage Index, and Social Deprivation Index for Adults With Out-of-Hospital Emergencies
Comparison of the Social Vulnerability Index, Area Disadvantage Index, and Social Deprivation Index for Adults With Out-of-Hospital Emergencies Open
Objectives: Multiple measures are used to assess neighborhood disadvantage. Although each was created with a unique purpose, they share conceptual and methodological overlap. We examined the correlation among 3 measures of neighborhood dis…