An Overview of Disease and Health Research Vol. 5

Do Cancer-associated Adipocytes Influence the Prognostic Value of Preoperative NLR?

2025-08-16T10:32:12+00:00

Background: Increasing evidence has suggested that the host inflammatory status is associated with the prognosis of a number of solid tumours and that many cancers are inflammation-related. Preoperative neutrophil-to-lymphocyte ratio (NLR) turned out to be a routinely available prognostic biomarker, useful predictor of postoperative survival for patients with various tumours, including gastric cancer (GC). However, there are some doubts concerning the prognostic value of preoperative NLR. GC is a tumour type that grows in the anatomical vicinity of adipose tissue, expansion of which causes adipose dysfunction and inflammation to increase systemic levels of proinflammatory factors. A key role in this mechanism seems to be played by the onset of low-grade systemic inflammation.

Aim: The aim of this study was to find out whether there is a relationship between the prognosis of disease outcome due to the value of NLR and the density of adipocites (CAAs) in the primary tumor of patients with GC.

Materials and Methods: A total of 171 patients with GC were eligible for retrospective analysis between 2009 and 2015. NLR was easily obtained from a routine peripheral blood test. Immunohistochemical examination of tumour tissue has been applied. All statistical analyses were conducted.

Results: The Low prognostic value of NLR is the most reliable for the favourable outcome for patients having a low density of CAAs in tumour. Patients with a high density of CAAs have a very high risk of dying, and that does not depend on the value of NLR.

Conclusion: Prognosis due to the value of preoperative NLR is essentially modified by the tumour CAA density, which is the basis for additional identification of patients with an unfavourable outcome of disease and the risk of mortality. It is the evidence for the expediency of the evaluation of tumour CAA density in operation material, and clinicians need to consider tumour CAA density for decisions on treatment strategy.

Atypical Farber Disease: Diagnostic and Prenatal Challenges of Novel ASAH1 Variants

2025-08-16T10:40:29+00:00

Background: Farber Disease (FD; OMIM #228000) is a rare lysosomal storage disorder caused by mutations in the ASAH1 gene leading to acid ceramidase deficiency. It classically presents in infancy with a triad of subcutaneous nodules, painful joints, and hoarseness. However, atypical or attenuated phenotypes lacking one or more hallmark features can complicate diagnosis, delaying appropriate management and genetic counseling.

Case Presentation: We report an atypical familial case of FD in which two children exhibited severe developmental delay, hypotonia, progressive skin lesions, joint stiffness, and neuroregression, but lacked subcutaneous nodules. Magnetic Resonance Imaging (MRI) revealed cerebral atrophy. Genetic testing in the parents identified heterozygous Variants of Uncertain Significance (VUS) in ASAH1: c.1042-2A>C (intron 12) and c.457+4A>G (intron 6). A third affected child showed similar clinical features, and exome sequencing confirmed compound heterozygosity for the same variants. Functional studies, including Reverse Transcription Polymerase Chain Reaction (RT-PCR), demonstrated exon skipping and abnormal splicing, leading to the reclassification of both variants as likely pathogenic. A skin biopsy supported the diagnosis of a lysosomal storage disorder, though without classic lipogranulomas. Based on these findings, prenatal testing was successfully offered in a subsequent pregnancy.

Conclusion: This case highlights the diagnostic challenges of atypical Farber Disease and the importance of integrating genetic testing, functional validation, and clinical correlation to reclassify VUS. Early diagnosis and variant interpretation enabled accurate reproductive counseling and prenatal diagnosis. The report underscores the value of preserving DNA samples, especially in rare diseases with evolving phenotypic presentations.

Co-occurrence of Mulibrey Nanism and Jacobs Syndrome in a Pediatric Patient: Importance of Comprehensive Genetic Testing

2025-08-16T10:43:55+00:00

Background: Mulibrey Nanism (Muscle-liver-brain-eye Nanism; MUL) is a rare autosomal recessive disorder caused by pathogenic variants in the TRIM37 gene. It is characterised by postnatal growth retardation, craniofacial dysmorphism, organ involvement including hepatomegaly and cardiomyopathy, and predisposition to tumours. Jacobs Syndrome (47, XYY) is a sex chromosome aneuploidy that may present with tall stature, behavioural issues, or be asymptomatic. Co-occurrence of these two conditions is extremely rare and poses diagnostic challenges.

Case Description: A 6-year-old boy was referred for genetic evaluation due to clinical features resembling Silver-Russell syndrome. Detailed genetic investigation was undertaken using a combination of classical and advanced techniques. Cytogenetic analysis with G-banding revealed a mosaic karyotype: 47, XYY[25]/46, XY[25], diagnostic of Jacobs Syndrome. Chromosomal microarray (CMA) confirmed a mosaic gain of the Y chromosome and showed no additional pathogenic copy number variations. Whole exome sequencing (WES) identified a homozygous nonsense variant c.586C>T in the TRIM37 gene, confirming the diagnosis of Mulibrey Nanism.

Conclusion: Accurate diagnosis of syndromic presentations requires a stepwise approach and the use of multiple genetic modalities. This case exemplifies the value of exhaustive testing in unravelling rare genetic overlaps and guiding appropriate clinical management.

Concurrent Immune Thrombocytopenia and Crohn’s Disease: A Review of Reported Cases

2025-08-16T10:49:30+00:00

Background and Aim: The coexistence of immune thrombocytopenia (ITP) and Crohn’s disease (CD) is not common. This review investigated studies involving cases of concurrent ITP and CD.

Methods: A literature search and review of studies on patients with comorbid ITP and CD, excluding those with drug- or vaccination-induced ITP, was conducted.

Results: Of the 32 cases included in this review, 17 (53.1%) were men, and 15 (46.9%) were women. Ten (31.3%) patients were initially diagnosed with ITP, and 12 (37.5%) with CD. Meanwhile, 10 (31.3%) patients were simultaneously diagnosed with ITP and CD. The development of ITP might be associated with CD aggravation in some cases. The standard therapeutic approaches for comorbid ITP and CD were glucocorticoids, intravenous immunoglobulin, biologics, and splenectomy. However, ITP remission might be achieved with bowel resection for CD. No fatalities were reported.

Conclusion: In the reported cases of comorbid ITP and CD, no clear trends were observed regarding sex and preceding disease. Nevertheless, the prognosis in these cases can be favourable.

Malnutrition in Transition: Exploring the Coexistence of Under- and Overnutrition

2025-08-16T10:51:34+00:00

Malnutrition is one of the debilitating conditions that affects children and pregnant women, commonly seen in South Asian countries, with the prevalence of underweight and overweight being 28% and 17% respectively. It is an imbalance of vital nutrients, excessive or insufficient nutritional intake, or poor utilisation of nutrients. There is a high risk of being overweight or obese in adult life with the presence of childhood malnutrition, especially undernutrition and poor early nutrition, which is known as “double burden of malnutrition,” and commonly seen in low- and middle-income countries. It is complex and influenced by various biological, metabolic, and socio-environmental factors. It can lead to numerous health consequences, including metabolic diseases, non-communicable diseases, and chronic inflammation. In addition to these health consequences, it has a negative financial impact on society and the healthcare system. Diagnosis in the early stages is helpful using anthropometric measurements. Treatment and prevention strategies include mainly lifestyle modifications such as dietary changes and physical therapy. It helps in dealing with various health-related complications and improves the quality of life.

A 2025 Update on Homelessness and a Free Clinics Response to Emerging Infectious Disease Outbreaks: Lessons from COVID-19 Patients

2025-08-21T07:59:48+00:00

In late 2019, a 26-year-old homeless man died from complications of SARS-CoV-2. The patient was initially seen in a free clinic and quickly transported to the nearest local hospital for diagnostic confirmation and treatment. Since 2019, the global and national death toll has declined, but remains a threat to vulnerable populations worldwide, especially the homeless. This chapter examines the evolving epidemiological landscape of COVID-19, its disproportionate impact on people experiencing homelessness, and the essential role of community health providers in bridging care gaps for marginalized populations.

Promoting Health and Preventing Developmental Challenges through Movement, Play, and Sports in Children and Adolescents

2025-09-12T11:50:15+00:00

The conditions of life under which children and adolescents are growing today have changed a lot in recent decades. Children and teenagers have to face multifaceted mental and social burdens. The disappearance of free natural spaces for movement, and the growing use of media and technology, lead to a loss of spatial, social and direct physical-aesthetic experiences. Consequences for children and young people are often expressed as weaknesses in coordination and physical posture, obesity, perception and cognitive impairment, antisocial and aggressive behaviour, reduced physical strength, addiction problems, as well as mental and psychosomatic damage. The aim of this study is to explore the role of movement, play, and sports in promoting health and preventing developmental, psychological, and social challenges among children and adolescents, by identifying how structured physical activities can support their physical, mental, and emotional well-being in the face of modern societal pressures. The method adopted for the study was a review of the bibliography. The study identifies the potential of movement, play and sport to prevent developmental disorders of children and adolescents due to drug use, physical illness, psychosomatic disorders, and psychosocial disorders. In conclusion, offers, in terms of movement, play and sports, should be organised in such a way that children and young people experience success. To achieve this, it is necessary for the teaching and learning method to be individualised and diversified, to offer simplifications and to present achievable and accessible goals.

Regional Variations in Cancer Burden in Uganda: Insights from Population-based Registries and Implications for National Control Programmes

2025-09-12T11:52:30+00:00

In Uganda and generally in Sub-Saharan Africa, there is an epidemiologic transition to noncommunicable diseases from infectious diseases. Effective strategies to mitigate the cancer burden may be designed by understanding the underlying factors responsible for this increase in noncommunicable diseases. The cancer registration coverage is low and evenly distributed in all regions of Uganda. This narrative review was conducted to determine the cancer burden in Uganda in order to allow for a timely intervention to mitigate cancer risk factors by Public Health authorities. The primary purpose of the study is to explore the sub-regional cancer spectrum in Uganda among both males and females. This review reveals the low levels of cancer awareness, which contribute to poor cancer screening and therefore present a barrier to cancer control and prevention in this population. In Uganda, there had been a 16% increase in cancer deaths between 2012 and 2018. The most common types of cancers are mainly due to infections, such as those caused by human herpes virus 8, Epstein-Barr virus and human papilloma virus. The sub-regional cancer spectrum in Uganda includes prostate, oesophageal, gastric, liver cancers and Kaposi sarcoma in males. Whilst in females, the sub-regional spectrum includes ovarian, breast, oesophageal and Kaposi sarcoma. Population-based cancer registries in the Central and Northern regions have reported ovarian cancer among the top five most common cancers. There is a significant variation in cancer profile in some sub-regions of Uganda, where non-Hodgkin lymphoma was replaced by gastric cancer in males. This finding reinforces the need to support and establish more population-based cancer registries to encourage the establishment of regional cancer centres, determine the cancer burden and guide national control programmes in the country. Part of the national cancer control programme should include cancer surveillance using population-based cancer registries.

Effect of Trans-Resveratrol on Sickle Cell Disease during Pregnancy: Implications for Maternal and Fetal Health

2025-09-12T11:54:52+00:00

The application of natural products has long been used in the treatment of illness and disease, many of which formed the industrial inspiration to develop from pharmacognosy into active pharmaceuticals. Resveratrol is a common phytochemical found in abundance in nutritious and wholesome foods and thus has likely been part of the human diet for many centuries. As such, resveratrol may contribute to the success of the French Paradox, where the inclusion of red wines is a familiar dietary addition and is associated with reduced incidence of cardiovascular disease. The primary metabolic action of resveratrol and related phenolic compounds likely rests in its potential antioxidant activity, being able to quench reactive free radicals (ROS) and other inflammatory activities in peripheral tissues. Resveratrol has been suggested as an adjunct in the clinical management of numerous metabolic disorders, including diabetes, obesity, hypertension, pre-eclampsia, and sickle cell disease, among others associated with chronic inflammation. Thus, the purpose of this review is to examine the safety and efficacy of resveratrol in pregnancy. This review also discusses the biochemical, pharmacologic and potential toxicologic aspects of trans-resveratrol administration as an adjunct in the treatment of hemoglobinopathies, including Sickle cell disease (SCD), during pregnancy. SCD represents a serious complication of normal pregnancy with few successful treatments, as the change in amino acid charge alters the protein’s hydrophobic structure and function. When present, it can result in the abnormal polymerisation to form deoxy-HbS and sickling, particularly during physiologic processes that incur high oxygen demand, including later stages of gestation and parturition. The results indicate that resveratrol is likely a safe and effective adjunct in treating the hypoxia and chronic inflammation of pregnancy, in addition to its applications in various hemoglobinopathies, including sickle cell disease, by inducing increased production of sickle-resistant fetal haemoglobin (HbF) in addition to reducing the magnitude of chronic inflammation, while enhancing oxygen delivery to peripheral tissues via actions of fetal haemoglobin. Thus, RSV may also be able to partially correct the effects linked to the globin chain imbalance in SCD patients, while at the same time facilitating oxygen transport to myoglobin in peripheral tissues due to a more favourable oxygen-delivering capacity than is observed in adult haemoglobin.

Emergence of Unusual Ascitic Syndromes in Niger: Public Health Alert and Etiological Hypotheses

2025-09-12T12:00:55+00:00

Background: Ascites is a common syndrome characterised by an excess of fluid in the peritoneum. Ascites is a clinical sign and the most common complication of decompensated liver cirrhosis and indicating a worse prognosis and higher mortality. Ascites is rare in children and typically linked to hepatic, infectious, or nutritional causes. In early 2025, an unusual cluster of pediatric ascitic syndromes was reported in two health districts in central Niger, prompting an epidemiological investigation.

Purpose: This study investigates the emergence of ascitic syndromes among children in the health districts of Dogondoutchi and Tibiri by identifying reported and unreported cases to determine possible etiological factors and provide a public health alert for the health authorities.

Methods: A field investigation was conducted in the Dogondoutchi and Tibiri districts between March 12 and 16, 2025. Data were collected through record reviews, interviews with local health teams, and field visits. Community engagement activities were also implemented to assess local perceptions and identify additional cases.

Results: A total of 128 cases, mostly children aged 5–14 years (66.4%), were identified, with a case fatality rate of 1.56%. Dogondoutchi reported 81 cases, and Tibiri 47. Clinical features included progressive abdominal distension, ascites, hepatomegaly, and generalised oedema. Ascitic fluid was citrine yellow and sterile. No clear infectious cause was found. A zoonotic origin was considered due to the reported death of dogs in several villages.

Conclusion: This is believed to be the first systematic investigation of a pediatric ascitic cluster in Niger, conducted within a highly nutritionally vulnerable context. Further etiological investigations, including toxicological and virological analyses, are urgently needed. A One Health approach involving human and veterinary sectors is crucial to identify the source and prevent recurrence.

An Update on Clonal Hematopoiesis: Insights from Genetic and Genomic Perspectives

2025-09-12T12:05:11+00:00

A prevalent biological condition in middle-aged and older people is clonal hematopoiesis (CH), which is defined as an excessive contribution to the formation of circulating blood cells by a single genetically modified hematopoietic clone in the absence of diagnostic evidence of a hematologic malignancy. Clonal haematopoesis is often caused by a hematopoietic stem or progenitor cell acquiring one or more somatic mutation repertoires. CH is quite frequent as people age, and it raises the chance of developing overt hematologic cancer as well as all-cause mortality and concomitant conditions, including diabetes and cardiovascular disease. Genetic and concurrent non-genetic risk factors (such as high blood pressure or smoking cigarettes) determine the level of risk. Since it is currently unknown how to reduce these risks, the prospect of future clinical repercussions may add to anxiety and uncertainty, even though the chance of clonal advancement or concomitant events in a single patient with clonal hematopoiesis may be minimal. Given this context, the goal of the current review is to examine the body of recent research in the field. Background information on somatic mosaicism, haematological disorders, and CH is included in the review to provide background literature. In-depth discussions of CH nosology, detection, and CH involvement in haematological and lymphoid disorders are described, emphasising novel findings with research and clinical medicine implications. The role of driver genes and non-involvement in somatic events raises a few questions. Using the lens of genetics and genomics, the fitness, selection and multiplication of clones are discussed. Finally, prevalent methods for intervention and knowledge gaps are discussed, thus covering a spectrum of topics.

Procalcitonin Patterns in Sepsis: An Indian Insight into Tropical Infections

2025-09-12T12:10:06+00:00

Background: Sepsis remains a critical global health challenge, particularly in tropical regions where diverse pathogens—ranging from bacteria and fungi to malaria and dengue—trigger complex host responses.

Aim: This study aimed to characterise procalcitonin (PCT) dynamics in sepsis patients, with a special focus on tropical infections, at a rural teaching hospital in India.

Methods: A cross-sectional study was conducted at the Microbiology and General Medicine departments of SBKS Medical Institute & Research Centre, Sumandeep Vidyapeeth, between September 2012 and December 2015. After ethical approval, we enrolled 155 adult patients (aged >18 years) clinically diagnosed with sepsis (according to the 1992/2001 definitions). Initial PCT measurement employed a semi-quantitative assay (until March 2015), later transitioned to a QDx Instacheck quantitative method. Patients were categorised by aetiology: 98 tropical sepsis, 46 non-tropical sepsis, and 11 with unidentified causes.

Results: PCT levels on admission were distributed as follows: ≤0.5 ng/mL in 43 patients, >0.5 to <2 ng/mL in 32, ≥2 to <10 ng/mL in 55, and ≥10 ng/mL in 25. The majority exhibited PCT in the 2–10 ng/mL range. Elevated PCT (≥2 ng/mL) was common across bacterial, fungal, and malarial infections, whereas dengue cases predominantly had PCT ≤0.5 ng/mL. Peak PCT levels (≥10 ng/mL) were strongly associated with severe disease and higher mortality.

Conclusions: In the rural Indian cohort, PCT elevation was not specific enough to distinguish among bacterial, fungal, and malarial sepsis but proved highly indicative of dengue when levels remained ≤0.5 ng/mL. Exceptionally high PCT correlated with disease severity and mortality. These findings underscore PCT’s potential as a rapid biomarker to guide early diagnostic assessments and risk stratification in tropical sepsis settings—and particularly for identifying dengue cases with low PCT.