Khabab Abbasher Hussien Mohamed Ahmed
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The organizations/institutes from the scholar's latest article
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Research Interests
Khabab Abbasher Hussien Mohamed Ahmed has a total of 801 co-authors. Here are the top co-authors by number of shared publications:
- Mohammed Mahmmoud Fadelallah Eljack
Faculty of Medicine and Health Sciences University of Bakhtalruda Ad Douiem Sudan
31 shared publications - Mohammed Eltahier Abdalla Omer
University of Gadarif Faculty of Medicine and Health Science
24 shared publications - Muhammad Junaid Tahir
Department of Radiology, Research Centre, Shaukat Khanam Memorial Cancer Hospital, Lahore, Pakistan
14 shared publications Mazin S. Haroun
University of Khartoum, Faculty of Medicine, Khartoum, Sudan
11 shared publicationsMazin S. Hassan Haroun
Faculty of Medicine University of Khartoum Khartoum Sudan
10 shared publications- Ghassan E. Mustafa Ahmed
Faculty of Medicine, University of Khartoum, Khartoum, Sudan
9 shared publications
Latest Publications
- Open Access
- 30 October 2026
- Published by Wiley in Brain and Behavior
- Vol. 16 (11)
COVID‐19 Vaccination and the Risk of Migraine Chronification: A Comparative Cohort Study of Vaccinated and Unvaccinated Patients With Episodic Migraine
Introduction: Headache is among the most frequently reported adverse events after COVID‐19 vaccination, and patients with migraine often fear that vaccination will worsen their disease or accelerate the transition from episodic to chronic migraine. Controlled data comparing vaccinated and unvaccinated patients with migraine are scarce. Methods: We conducted a comparative prospective cohort study of 60 adults with pre‐existing episodic migraine, classified at enrolment as vaccinated ( n = 30) or unvaccinated ( n = 30) against COVID‐19, at a single neuroscience clinic in Jeddah, Saudi Arabia, and followed for 6 months. Migraine status (episodic or chronic, per ICHD‐3) was assessed at 3 and 6 months. Between‐group chronification was compared using Fisher's exact test with odds ratios (ORs) and 95% confidence intervals (CIs); patient‐level transitions were also examined. No a priori sample‐size calculation was performed. Results: There were no statistically significant baseline differences between groups in age (30.3 ± 5.07 vs. 30.5 ± 4.46 years; p = 0.87), sex ( p = 0.78), or preventive medication ( p = 0.58). Provisional chronic‐frequency status was recorded in 5/30 vaccinated versus 11/30 unvaccinated patients at 3 months (OR 0.35, 95% CI 0.10–1.16; p = 0.14), and chronic migraine in 3/30 versus 6/30 at 6 months (OR 0.44, 95% CI 0.10–1.97; p = 0.47). All such transitions occurred by 3 months, with no new cases between 3 and 6 months; the confidence intervals were wide and included no difference. Conclusions: In this small observational cohort, no statistically significant association was detected between COVID‐19 vaccination and migraine chronification. The wide confidence intervals preclude firm conclusions regarding either harm or benefit, and larger, adequately powered studies are needed.
- 30 October 2026
- Published by Wiley in Brain and Behavior
- Vol. 16 (11)
Open AccessCOVID‐19 Vaccination and the Risk of Migraine Chronification: A Comparative Cohort Study of Vaccinated and Unvaccinated Patients With Episodic Migraine
Introduction: Headache is among the most frequently reported adverse events after COVID‐19 vaccination, and patients with migraine often fear that vaccination will worsen their disease or accelerate the transition from episodic to chronic migraine. Controlled data comparing vaccinated and unvaccinated patients with migraine are scarce. Methods: We conducted a comparative prospective cohort study of 60 adults with pre‐existing episodic migraine, classified at enrolment as vaccinated ( n = 30) or unvaccinated ( n = 30) against COVID‐19, at a single neuroscience clinic in Jeddah, Saudi Arabia, and followed for 6 months. Migraine status (episodic or chronic, per ICHD‐3) was assessed at 3 and 6 months. Between‐group chronification was compared using Fisher's exact test with odds ratios (ORs) and 95% confidence intervals (CIs); patient‐level transitions were also examined. No a priori sample‐size calculation was performed. Results: There were no statistically significant baseline differences between groups in age (30.3 ± 5.07 vs. 30.5 ± 4.46 years; p = 0.87), sex ( p = 0.78), or preventive medication ( p = 0.58). Provisional chronic‐frequency status was recorded in 5/30 vaccinated versus 11/30 unvaccinated patients at 3 months (OR 0.35, 95% CI 0.10–1.16; p = 0.14), and chronic migraine in 3/30 versus 6/30 at 6 months (OR 0.44, 95% CI 0.10–1.97; p = 0.47). All such transitions occurred by 3 months, with no new cases between 3 and 6 months; the confidence intervals were wide and included no difference. Conclusions: In this small observational cohort, no statistically significant association was detected between COVID‐19 vaccination and migraine chronification. The wide confidence intervals preclude firm conclusions regarding either harm or benefit, and larger, adequately powered studies are needed.
- Open Access
- 14 October 2026
- Published by Wiley in Public Health Challenges
- Vol. 5 (4)
Awareness of Community Members in Sudan Toward Stroke in 2024
Background: Sudan ranks 27th globally in stroke‐related deaths, with an age‐adjusted death rate of 136.47 per 100,000 people. Adequate knowledge among the population, particularly during times of conflict, can improve stroke outcomes. Objectives: To assess the Sudanese population's knowledge toward stroke in 2024. Methods: This cross‐sectional study was conducted from April to May 2024 among the Sudanese population who were aged more than 18 years. The study participants filled out a self‐administered online questionnaire that was composed of two sections: sociodemographic characteristics and knowledge toward stroke. The data were collected through convenience sampling. Frequencies, percentages, and associations were calculated through SPSS 28. Linear regression analysis was used to measure the association between the sociodemographic factors associated with stroke knowledge. Results: We received 1124 responses; 56.9% ( n = 639) were female, and 80.8% ( n = 908) were aged 18–36 years. High blood pressure (85.2%, n = 958) and previous history of stroke (72.3%, n = 813) were the most identified risk factors, whereas difficulty speaking (76.1%, n = 855) and severe unexplained headache (76.1%, n = 855) were the most recognized symptoms. However, 39.9% ( n = 448), 46.6% ( n = 524), and 43.3% ( n = 487) did not recognize personality changes, depression, and bladder dysfunction, respectively, as possible complications of stroke. Conclusion: Awareness of stroke risk factors and the appropriate emergency response was generally adequate, but the recognition of warning symptoms and complications, such as personality changes, depression, and bladder dysfunction, was incomplete. As the sample was predominantly educated, awareness is likely lower in the general population, highlighting the need for targeted health‐education efforts on symptom and complication recognition, especially among less‐educated and rural groups.
- 14 October 2026
- Published by Wiley in Public Health Challenges
- Vol. 5 (4)
Open AccessAwareness of Community Members in Sudan Toward Stroke in 2024
Background: Sudan ranks 27th globally in stroke‐related deaths, with an age‐adjusted death rate of 136.47 per 100,000 people. Adequate knowledge among the population, particularly during times of conflict, can improve stroke outcomes. Objectives: To assess the Sudanese population's knowledge toward stroke in 2024. Methods: This cross‐sectional study was conducted from April to May 2024 among the Sudanese population who were aged more than 18 years. The study participants filled out a self‐administered online questionnaire that was composed of two sections: sociodemographic characteristics and knowledge toward stroke. The data were collected through convenience sampling. Frequencies, percentages, and associations were calculated through SPSS 28. Linear regression analysis was used to measure the association between the sociodemographic factors associated with stroke knowledge. Results: We received 1124 responses; 56.9% ( n = 639) were female, and 80.8% ( n = 908) were aged 18–36 years. High blood pressure (85.2%, n = 958) and previous history of stroke (72.3%, n = 813) were the most identified risk factors, whereas difficulty speaking (76.1%, n = 855) and severe unexplained headache (76.1%, n = 855) were the most recognized symptoms. However, 39.9% ( n = 448), 46.6% ( n = 524), and 43.3% ( n = 487) did not recognize personality changes, depression, and bladder dysfunction, respectively, as possible complications of stroke. Conclusion: Awareness of stroke risk factors and the appropriate emergency response was generally adequate, but the recognition of warning symptoms and complications, such as personality changes, depression, and bladder dysfunction, was incomplete. As the sample was predominantly educated, awareness is likely lower in the general population, highlighting the need for targeted health‐education efforts on symptom and complication recognition, especially among less‐educated and rural groups.
- Open Access
- 2 October 2026
- Published by Wolters Kluwer Health in Medicine
- Vol. 105 (40) , e50950
Bibliometric mapping of the 100 most-cited publications on optic nerve and optic pathway glioma
Background: Optic pathway gliomas (OPGs), including optic nerve gliomas, are uncommon tumors of the anterior visual pathway that arise mainly in young children, often with neurofibromatosis type 1 (NF1). The literature is now substantial, but its structure is undescribed. We mapped the most-cited OPG publications to characterize citation patterns, contributors, collaboration, and thematic development. Methods: Scopus was searched on April 30, 2025 using a title–abstract–keyword strategy combining 4 OPG-specific phrases, with no year or document-type restriction. Records were ranked by total citations, and the 100 most-cited were retained. Two reviewers screened independently with a 3rd adjudicating; each was then classified by how directly it addressed OPG. Metadata were analyzed in Bibliometrix and VOSviewer. Distributions were assessed with the Shapiro–Wilk test and summarized as medians with interquartile ranges (IQRs); associations used Spearman correlation. Reporting follows the preliminary guideline for reporting bibliometric reviews of the biomedical literature. Results: The 100 records, published between 2000 and 2021, were cited 9305 times, with a median of 75 citations per article (IQR 59–108; range 41–289) and a median annual rate of 5.7 (IQR 4.2–7.8). Output peaked in 2010 (n = 9) and again in 2012, 2015, and 2016 (n = 8 each). First authors spanned 17 countries, 53 from the United States. Washington University School of Medicine appeared most often, and David H. Gutmann and Robert A. Avery were the most central authors. Neuro-Oncology (n = 9), Cancer Research (n = 5), and the International Journal of Radiation Oncology Biology Physics (n = 5) led; about four-fifths appeared in 1st-quartile journals. Keyword co-occurrence formed 3 clusters: clinical/chemotherapy, NF1 molecular biology, and imaging/diagnostics. Recent articles were cited faster than older ones (rho = 0.475, publication year vs. annual rate; P < .001). Excluding the 9 peripherally related records left every statistic essentially unchanged (median 76; IQR 59–109). Conclusion: Among the most-cited OPG publications, emphasis has shifted over 2 decades from descriptive clinical series toward NF1 tumor biology, mitogen-activated protein kinase kinase-directed therapy, and quantitative imaging, with output concentrated in a few North American centers. These findings describe how attention has been distributed, not clinical importance or study quality, and are subject to the known limits of citation analysis.
- 2 October 2026
- Published by Wolters Kluwer Health in Medicine
- Vol. 105 (40) , e50950
Open AccessBibliometric mapping of the 100 most-cited publications on optic nerve and optic pathway glioma
Background: Optic pathway gliomas (OPGs), including optic nerve gliomas, are uncommon tumors of the anterior visual pathway that arise mainly in young children, often with neurofibromatosis type 1 (NF1). The literature is now substantial, but its structure is undescribed. We mapped the most-cited OPG publications to characterize citation patterns, contributors, collaboration, and thematic development. Methods: Scopus was searched on April 30, 2025 using a title–abstract–keyword strategy combining 4 OPG-specific phrases, with no year or document-type restriction. Records were ranked by total citations, and the 100 most-cited were retained. Two reviewers screened independently with a 3rd adjudicating; each was then classified by how directly it addressed OPG. Metadata were analyzed in Bibliometrix and VOSviewer. Distributions were assessed with the Shapiro–Wilk test and summarized as medians with interquartile ranges (IQRs); associations used Spearman correlation. Reporting follows the preliminary guideline for reporting bibliometric reviews of the biomedical literature. Results: The 100 records, published between 2000 and 2021, were cited 9305 times, with a median of 75 citations per article (IQR 59–108; range 41–289) and a median annual rate of 5.7 (IQR 4.2–7.8). Output peaked in 2010 (n = 9) and again in 2012, 2015, and 2016 (n = 8 each). First authors spanned 17 countries, 53 from the United States. Washington University School of Medicine appeared most often, and David H. Gutmann and Robert A. Avery were the most central authors. Neuro-Oncology (n = 9), Cancer Research (n = 5), and the International Journal of Radiation Oncology Biology Physics (n = 5) led; about four-fifths appeared in 1st-quartile journals. Keyword co-occurrence formed 3 clusters: clinical/chemotherapy, NF1 molecular biology, and imaging/diagnostics. Recent articles were cited faster than older ones (rho = 0.475, publication year vs. annual rate; P < .001). Excluding the 9 peripherally related records left every statistic essentially unchanged (median 76; IQR 59–109). Conclusion: Among the most-cited OPG publications, emphasis has shifted over 2 decades from descriptive clinical series toward NF1 tumor biology, mitogen-activated protein kinase kinase-directed therapy, and quantitative imaging, with output concentrated in a few North American centers. These findings describe how attention has been distributed, not clinical importance or study quality, and are subject to the known limits of citation analysis.
- Open Access
- 24 September 2026
- Published by Springer Nature in BMC Medical Education
Assessing clinical knowledge of common medical emergencies, attitudes toward emergency medicine, and career perceptions among Pakistani medical students: a cross-sectional study
Background: Emergency Medicine (EM) is a critical specialty focused on the rapid assessment and management of life-threatening conditions. EM faces significant challenges in low- and middle-income countries (LMICs), where 90% of healthcare emergencies occur. In Pakistan, awareness of EM as a specialty and opportunities for formal exposure remain limited. This study assessed medical students’ clinical knowledge of common medical emergencies, attitudes toward EM as a specialty, and perceptions and factors influencing consideration of EM as a career. Methods: An analytical, cross-sectional, web-based survey was conducted among undergraduate medical students in Pakistan. A structured questionnaire assessed clinical knowledge of common medical emergencies, attitudes toward EM as a specialty, and factors influencing or discouraging consideration of EM as a career. Statistical analyses, including logistic regression, were performed using SPSS version 26. Results: A total of 528 participants, with a mean age of 22.22 ± 1.84 years, were included. Overall, 58.9% demonstrated good clinical knowledge of common medical emergencies. Residents of urban areas had higher odds of good clinical knowledge than residents of rural areas (AOR = 1.755, 95% CI: 1.04–2.93, p = 0.032), and fifth-year students had higher odds than first-year students (AOR = 3.401, 95% CI: 2.03–5.67, p < 0.001). Although 79.0% of participants expressed a positive attitude toward EM, 52.5% considered it a career option. Personal interest (93.9%), immediate intervention results (88.1%), and career opportunities (86.3%) were key motivating factors, whereas burnout risk (83.7%), lack of mentorship (82.5%), and lack of structured rotations/postgraduate training (80.9%) were major deterrents. Conclusion: Medical students in Pakistan generally expressed a positive attitude toward EM, although only about half considered it a career option. Clinical knowledge of common medical emergencies was lower among students in earlier academic years and was associated with attitudes toward EM. These findings should be interpreted in light of the convenience-based web survey and inclusion of students at different stages of training. Structured exposure to emergency care, mentorship, and improved undergraduate teaching may strengthen informed perceptions of EM as a career.
- 24 September 2026
- Published by Springer Nature in BMC Medical Education
Open AccessAssessing clinical knowledge of common medical emergencies, attitudes toward emergency medicine, and career perceptions among Pakistani medical students: a cross-sectional study
Background: Emergency Medicine (EM) is a critical specialty focused on the rapid assessment and management of life-threatening conditions. EM faces significant challenges in low- and middle-income countries (LMICs), where 90% of healthcare emergencies occur. In Pakistan, awareness of EM as a specialty and opportunities for formal exposure remain limited. This study assessed medical students’ clinical knowledge of common medical emergencies, attitudes toward EM as a specialty, and perceptions and factors influencing consideration of EM as a career. Methods: An analytical, cross-sectional, web-based survey was conducted among undergraduate medical students in Pakistan. A structured questionnaire assessed clinical knowledge of common medical emergencies, attitudes toward EM as a specialty, and factors influencing or discouraging consideration of EM as a career. Statistical analyses, including logistic regression, were performed using SPSS version 26. Results: A total of 528 participants, with a mean age of 22.22 ± 1.84 years, were included. Overall, 58.9% demonstrated good clinical knowledge of common medical emergencies. Residents of urban areas had higher odds of good clinical knowledge than residents of rural areas (AOR = 1.755, 95% CI: 1.04–2.93, p = 0.032), and fifth-year students had higher odds than first-year students (AOR = 3.401, 95% CI: 2.03–5.67, p < 0.001). Although 79.0% of participants expressed a positive attitude toward EM, 52.5% considered it a career option. Personal interest (93.9%), immediate intervention results (88.1%), and career opportunities (86.3%) were key motivating factors, whereas burnout risk (83.7%), lack of mentorship (82.5%), and lack of structured rotations/postgraduate training (80.9%) were major deterrents. Conclusion: Medical students in Pakistan generally expressed a positive attitude toward EM, although only about half considered it a career option. Clinical knowledge of common medical emergencies was lower among students in earlier academic years and was associated with attitudes toward EM. These findings should be interpreted in light of the convenience-based web survey and inclusion of students at different stages of training. Structured exposure to emergency care, mentorship, and improved undergraduate teaching may strengthen informed perceptions of EM as a career.
- Open Access
- 31 August 2026
- Published by Oxford University Press (OUP) in Journal of Surgical Case Reports
- Vol. 2026 (9)
Unusual blue discolouration of the ascending aorta in a patient with Churg–Strauss syndrome undergoing surgical aortic valve replacement: a case report
Churg–Strauss syndrome (eosinophilic granulomatosis with polyangiitis) is a rare systemic vasculitis that predominantly affects small- to medium-sized vessels, with large-vessel involvement being exceptional. We report a 72-year-old woman with Churg–Strauss syndrome and severe low-flow, low-gradient aortic stenosis (left ventricular ejection fraction 15%) who underwent surgical aortic valve replacement following multidisciplinary Heart Team assessment. Intraoperatively, an unusual blue discolouration of the ascending aortic intima was observed. Postoperatively, the patient developed cardiac tamponade requiring urgent reintervention and had a prolonged recovery before being discharged to rehabilitation. This case expands the spectrum of vascular manifestations in Churg–Strauss syndrome and highlights potential perioperative challenges during cardiac surgery.
- 31 August 2026
- Published by Oxford University Press (OUP) in Journal of Surgical Case Reports
- Vol. 2026 (9)
Open AccessUnusual blue discolouration of the ascending aorta in a patient with Churg–Strauss syndrome undergoing surgical aortic valve replacement: a case report
Churg–Strauss syndrome (eosinophilic granulomatosis with polyangiitis) is a rare systemic vasculitis that predominantly affects small- to medium-sized vessels, with large-vessel involvement being exceptional. We report a 72-year-old woman with Churg–Strauss syndrome and severe low-flow, low-gradient aortic stenosis (left ventricular ejection fraction 15%) who underwent surgical aortic valve replacement following multidisciplinary Heart Team assessment. Intraoperatively, an unusual blue discolouration of the ascending aortic intima was observed. Postoperatively, the patient developed cardiac tamponade requiring urgent reintervention and had a prolonged recovery before being discharged to rehabilitation. This case expands the spectrum of vascular manifestations in Churg–Strauss syndrome and highlights potential perioperative challenges during cardiac surgery.
- Open Access
- 30 July 2026
- Published by Wolters Kluwer Health in Annals of Medicine & Surgery
- Vol. 88 (9) , 6038-6041
Mast cell leukemia with complex genomic alterations in an elderly patient with prior hematologic and solid malignancies: a case report
Introduction: Mast cell leukemia (MCL) is the rarest and most aggressive variant of systemic mastocytosis (approximately 1% of cases), with a median survival of under 2 years. Diagnosis requires ≥20% atypical mast cells in the marrow aspirate, and the disease frequently overlaps with myeloid neoplasms. Case presentation: An 86-year-old man with paranasal sinus diffuse large B-cell lymphoma in remission since 2017 after R-CHOP and methotrexate, and prostate adenocarcinoma treated in 2019, presented with acute pancytopenia, presumed to represent lymphoma relapse. Serum tryptase exceeded 11 999 ng/mL; the aspirate showed 20% pleomorphic mast cells (CD117+, weak CD25, CD2−), confirming aleukemic MCL. Formal CMML criteria could not be confirmed due to the unavailability of monocyte differential data; however, the findings raised suspicion for an associated myeloid neoplasm, with SM with an associated hematological neoplasm remaining an alternative classification. Karyotyping was normal; next-generation sequencing revealed pathogenic variants in TP53, RB1, DAXX, ASXL1, TET2, and SRSF2, and a rare extracellular-domain KIT p.D419del. He declined inpatient midostaurin, deteriorated rapidly, and died 2 weeks later. Clinical discussion: This case illustrates a therapy-related MCL (plausible but unconfirmed given the non-leukemogenic profile of methotrexate and the focal nature of prostate stereotactic body radiation therapy) with a suspected associated myeloid neoplasm and complex pathogenic mutations. The KIT p.D419del extracellular domain variant is a rare non-D816V mutation; the canonical D816V was not detected on NGS, though the presence of a low-variant allele fraction D816V cannot be fully excluded due to assay sensitivity. Despite midostaurin, the disease remained aggressive. Conclusion: Persistent unexplained cytopenias warrant heightened suspicion of MCL, and comprehensive genomic profiling clarifies diagnosis, distinguishes overlapping myeloid disease, and informs prognosis in this aggressive, refractory neoplasm.
- 30 July 2026
- Published by Wolters Kluwer Health in Annals of Medicine & Surgery
- Vol. 88 (9) , 6038-6041
Open AccessMast cell leukemia with complex genomic alterations in an elderly patient with prior hematologic and solid malignancies: a case report
Introduction: Mast cell leukemia (MCL) is the rarest and most aggressive variant of systemic mastocytosis (approximately 1% of cases), with a median survival of under 2 years. Diagnosis requires ≥20% atypical mast cells in the marrow aspirate, and the disease frequently overlaps with myeloid neoplasms. Case presentation: An 86-year-old man with paranasal sinus diffuse large B-cell lymphoma in remission since 2017 after R-CHOP and methotrexate, and prostate adenocarcinoma treated in 2019, presented with acute pancytopenia, presumed to represent lymphoma relapse. Serum tryptase exceeded 11 999 ng/mL; the aspirate showed 20% pleomorphic mast cells (CD117+, weak CD25, CD2−), confirming aleukemic MCL. Formal CMML criteria could not be confirmed due to the unavailability of monocyte differential data; however, the findings raised suspicion for an associated myeloid neoplasm, with SM with an associated hematological neoplasm remaining an alternative classification. Karyotyping was normal; next-generation sequencing revealed pathogenic variants in TP53, RB1, DAXX, ASXL1, TET2, and SRSF2, and a rare extracellular-domain KIT p.D419del. He declined inpatient midostaurin, deteriorated rapidly, and died 2 weeks later. Clinical discussion: This case illustrates a therapy-related MCL (plausible but unconfirmed given the non-leukemogenic profile of methotrexate and the focal nature of prostate stereotactic body radiation therapy) with a suspected associated myeloid neoplasm and complex pathogenic mutations. The KIT p.D419del extracellular domain variant is a rare non-D816V mutation; the canonical D816V was not detected on NGS, though the presence of a low-variant allele fraction D816V cannot be fully excluded due to assay sensitivity. Despite midostaurin, the disease remained aggressive. Conclusion: Persistent unexplained cytopenias warrant heightened suspicion of MCL, and comprehensive genomic profiling clarifies diagnosis, distinguishes overlapping myeloid disease, and informs prognosis in this aggressive, refractory neoplasm.
- Open Access
- 22 July 2026
- Published by Springer Nature in Journal of Medical Case Reports
- Vol. 20 (1)
Childhood-onset parkinsonism, dystonia and severe muscle wasting in a Sudanese girl caused by a novel homozygous DnaJ heat shock protein family (heat shock protein 40) member C6 frameshift variant, with an incidental pathogenic breast cancer 1 gene secondary finding: a case report
Background: DNAJC6 -related juvenile parkinsonism is a rare autosomal recessive disorder of auxilin, a co-chaperone essential for clathrin-mediated synaptic vesicle recycling. Fewer than 50 kindreds have been reported worldwide, and the condition is easily missed when first-line investigations come back normal. We describe a Sudanese adolescent in whom a previously unreported homozygous DNAJC6 frameshift variant was identified only after a prolonged diagnostic journey that included a period during which her illness was mistakenly attributed to a functional neurological disorder. Clinical whole-exome sequencing additionally returned an incidental medically actionable BRCA1 secondary finding. Case presentation: A 13-year-old Sudanese girl, the eldest child of first-cousin parents, was born preterm and ventilated neonatally for severe respiratory distress. Her development was normal until age five, when an isolated upper-limb tremor first appeared. Over the next 8 years her condition progressed into severe juvenile parkinsonism: bilateral rest-and-action tremor, rigidity, bradykinesia, generalized dystonia with prominent oromandibular involvement, dysphagia, profound cachexia, cognitive and behavioral decline, sleep and autonomic disturbance, episodic oculogyric crises and three discrete seizures. By approximately 11 she was wheelchair-dependent. Earlier, unrevealing investigations had led to a psychiatric diagnosis of functional neurological disorder, and the dopamine antagonists prescribed on that basis worsened her condition. Whole-exome sequencing later identified a novel homozygous DNAJC6 frameshift deletion (NM_001256864.2:c.1480del; p.Glu494ArgfsTer12), absent from population databases, alongside a heterozygous pathogenic BRCA1 deletion reported as an actionable secondary finding. Levodopa produced partial motor benefit, complicated by on-state dyskinesias, visual hallucinations and excessive daytime somnolence. Subsequent up-titration of carbidopa/levodopa to approximately 5-hourly dosing produced a further, clinically evident improvement in gait and fine-motor function. Conclusions: This case adds a previously unreported allele to the DNAJC6 catalog and characterizes the severe end of its phenotype, where corticospinal signs and life-threatening cachexia accompany the more familiar extrapyramidal features. It illustrates the harm that follows premature labeling of a progressive organic movement disorder as functional, especially when dopamine antagonists are then prescribed. The accompanying pathogenic BRCA1 secondary finding shows the dual diagnostic yield that clinical whole-exome sequencing can deliver. Early genetic investigation in childhood-onset movement disorders, particularly with consanguinity, should be the rule, and cascade pathways for actionable secondary findings embedded in routine practice.
- 22 July 2026
- Published by Springer Nature in Journal of Medical Case Reports
- Vol. 20 (1)
Open AccessChildhood-onset parkinsonism, dystonia and severe muscle wasting in a Sudanese girl caused by a novel homozygous DnaJ heat shock protein family (heat shock protein 40) member C6 frameshift variant, with an incidental pathogenic breast cancer 1 gene secondary finding: a case report
Background: DNAJC6 -related juvenile parkinsonism is a rare autosomal recessive disorder of auxilin, a co-chaperone essential for clathrin-mediated synaptic vesicle recycling. Fewer than 50 kindreds have been reported worldwide, and the condition is easily missed when first-line investigations come back normal. We describe a Sudanese adolescent in whom a previously unreported homozygous DNAJC6 frameshift variant was identified only after a prolonged diagnostic journey that included a period during which her illness was mistakenly attributed to a functional neurological disorder. Clinical whole-exome sequencing additionally returned an incidental medically actionable BRCA1 secondary finding. Case presentation: A 13-year-old Sudanese girl, the eldest child of first-cousin parents, was born preterm and ventilated neonatally for severe respiratory distress. Her development was normal until age five, when an isolated upper-limb tremor first appeared. Over the next 8 years her condition progressed into severe juvenile parkinsonism: bilateral rest-and-action tremor, rigidity, bradykinesia, generalized dystonia with prominent oromandibular involvement, dysphagia, profound cachexia, cognitive and behavioral decline, sleep and autonomic disturbance, episodic oculogyric crises and three discrete seizures. By approximately 11 she was wheelchair-dependent. Earlier, unrevealing investigations had led to a psychiatric diagnosis of functional neurological disorder, and the dopamine antagonists prescribed on that basis worsened her condition. Whole-exome sequencing later identified a novel homozygous DNAJC6 frameshift deletion (NM_001256864.2:c.1480del; p.Glu494ArgfsTer12), absent from population databases, alongside a heterozygous pathogenic BRCA1 deletion reported as an actionable secondary finding. Levodopa produced partial motor benefit, complicated by on-state dyskinesias, visual hallucinations and excessive daytime somnolence. Subsequent up-titration of carbidopa/levodopa to approximately 5-hourly dosing produced a further, clinically evident improvement in gait and fine-motor function. Conclusions: This case adds a previously unreported allele to the DNAJC6 catalog and characterizes the severe end of its phenotype, where corticospinal signs and life-threatening cachexia accompany the more familiar extrapyramidal features. It illustrates the harm that follows premature labeling of a progressive organic movement disorder as functional, especially when dopamine antagonists are then prescribed. The accompanying pathogenic BRCA1 secondary finding shows the dual diagnostic yield that clinical whole-exome sequencing can deliver. Early genetic investigation in childhood-onset movement disorders, particularly with consanguinity, should be the rule, and cascade pathways for actionable secondary findings embedded in routine practice.
- Open Access
- 13 July 2026
- Published by Wiley in Clinical Case Reports
- Vol. 14 (7) , e73158
Non‐Small Cell Lung Carcinoma Presenting as Isolated Malignant Ascites in the Absence of a Detectable Primary Tumor: A Case Report and Literature Review
An 89‐year‐old woman presented with abdominal distension and altered mental status. Non‐portal‐hypertensive ascites suggested spontaneous bacterial peritonitis, but ascitic‐fluid cytology with immunoprofiling and circulating tumor‐DNA confirmed non‐small cell lung carcinoma despite no detectable primary tumor, underscoring early consideration of malignancy in unexplained ascites.
- 13 July 2026
- Published by Wiley in Clinical Case Reports
- Vol. 14 (7) , e73158
Open AccessNon‐Small Cell Lung Carcinoma Presenting as Isolated Malignant Ascites in the Absence of a Detectable Primary Tumor: A Case Report and Literature Review
An 89‐year‐old woman presented with abdominal distension and altered mental status. Non‐portal‐hypertensive ascites suggested spontaneous bacterial peritonitis, but ascitic‐fluid cytology with immunoprofiling and circulating tumor‐DNA confirmed non‐small cell lung carcinoma despite no detectable primary tumor, underscoring early consideration of malignancy in unexplained ascites.
- Open Access
- 6 July 2026
- Published by Wiley in Clinical Case Reports
- Vol. 14 (7) , e73108
Unmasking the Hidden Culprit: Capsule Endoscopy Reveals Diffuse Hookworm Infestation as a Cause of Obscure Gastrointestinal Bleeding and Refractory Anemia—A Case Report
A 70‐year‐old woman with transfusion‐dependent anemia and ongoing gastrointestinal bleeding had inconclusive findings on imaging, upper endoscopy, and colonoscopy. Capsule endoscopy revealed the diagnosis: diffuse hookworm infestation causing active bleeding throughout the small bowel and colon. Targeted anthelmintic therapy resolved her anemia completely.
- 6 July 2026
- Published by Wiley in Clinical Case Reports
- Vol. 14 (7) , e73108
Open AccessUnmasking the Hidden Culprit: Capsule Endoscopy Reveals Diffuse Hookworm Infestation as a Cause of Obscure Gastrointestinal Bleeding and Refractory Anemia—A Case Report
A 70‐year‐old woman with transfusion‐dependent anemia and ongoing gastrointestinal bleeding had inconclusive findings on imaging, upper endoscopy, and colonoscopy. Capsule endoscopy revealed the diagnosis: diffuse hookworm infestation causing active bleeding throughout the small bowel and colon. Targeted anthelmintic therapy resolved her anemia completely.
- Open Access
- 6 July 2026
- Published by Springer Nature in BMC Infectious Diseases
- Vol. 26 (1)
Efficacy and safety of tenofovir alafenamide versus tenofovir disoproxil in chronic hepatitis b: a systematic review and meta-analysis of randomized controlled trials
Background: In treating Chronic Hepatitis B (CHB), tenofovir disoproxil fumarate (TDF) carries risks like renal toxicity and reduced bone mineral density (BMD). TAF, the next-generation prodrug of TFV, is more stable in plasma than TDF, requires a significantly lower dose (25 mg vs. 300 mg), and results in approximately 90% lower plasma TFV levels, contributing to a more favorable renal and bone safety profile. This study aimed to evaluate the efficacy and safety of tenofovir alafenamide fumarate (TAF) compared to TDF in CHB. Methods: We conducted a search on PubMed, Google Scholar, and the Cochrane Library. Only four RCTs that studied the comparison of efficacy and safety of TAF and TDF in treating CHB were included. The Primary outcome of interest was the proportion of patients with Hepatitis B virus (HBV) DNA below 15–29 IU/ml as all the RCT’s included in this study report the same HBV DNA levels. We used a random-effects model to calculate the Risk Ratio (RR) and Mean Difference (MD) with 95% CI. Results: This meta-analysis includes four eligible RCTs including 1,960 total patients. The comparison between TAF and TDF groups regarding HBV DNA level revealed no significant difference (RR = 1.00, 95% CI = 0.96 to 1.05; P = 0.82). Pooled data showed beneficial effects of TAF compared with TDF for ALT Normalization (RR = 1.38; 95% CI = 1.16 TO 1.64; p = 0.0002), Hip BMD (MD = 1.44, 95% CI = 0.98 to 1.91; P ‹ 0.00001), Spine BMD (MD = 1.93, 95% CI = 1.42 to 2.44; P ‹ 0.00001), serum creatinine concentration (MD= -0.02, 95% CI=-0.03 to -0.01; P ‹ 0.00001) and eGFR (MD = 3.55, 95% CI = 2.97 to 4.14; P ‹ 0.00001). However, the TAF group showed a significantly greater proportion of patients (46/1080 vs. 5/662) with LDL levels > 190 or 300 mg/dl than the TDF group (RR = 4.95, 95% CI = 1.21 to 20.29; P = 0.03). Conclusion: The TAF demonstrated improved BMD and renal function compared to TDF. There was no significant difference between TAF and TDF in achieving viral suppression. Clinical trial number: This was a systematic review and meta-analysis not a clinical trial. Study registration: This systematic review and meta-analysis is registered at PROSPERO (CRD42023456006).
- 6 July 2026
- Published by Springer Nature in BMC Infectious Diseases
- Vol. 26 (1)
Open AccessEfficacy and safety of tenofovir alafenamide versus tenofovir disoproxil in chronic hepatitis b: a systematic review and meta-analysis of randomized controlled trials
Background: In treating Chronic Hepatitis B (CHB), tenofovir disoproxil fumarate (TDF) carries risks like renal toxicity and reduced bone mineral density (BMD). TAF, the next-generation prodrug of TFV, is more stable in plasma than TDF, requires a significantly lower dose (25 mg vs. 300 mg), and results in approximately 90% lower plasma TFV levels, contributing to a more favorable renal and bone safety profile. This study aimed to evaluate the efficacy and safety of tenofovir alafenamide fumarate (TAF) compared to TDF in CHB. Methods: We conducted a search on PubMed, Google Scholar, and the Cochrane Library. Only four RCTs that studied the comparison of efficacy and safety of TAF and TDF in treating CHB were included. The Primary outcome of interest was the proportion of patients with Hepatitis B virus (HBV) DNA below 15–29 IU/ml as all the RCT’s included in this study report the same HBV DNA levels. We used a random-effects model to calculate the Risk Ratio (RR) and Mean Difference (MD) with 95% CI. Results: This meta-analysis includes four eligible RCTs including 1,960 total patients. The comparison between TAF and TDF groups regarding HBV DNA level revealed no significant difference (RR = 1.00, 95% CI = 0.96 to 1.05; P = 0.82). Pooled data showed beneficial effects of TAF compared with TDF for ALT Normalization (RR = 1.38; 95% CI = 1.16 TO 1.64; p = 0.0002), Hip BMD (MD = 1.44, 95% CI = 0.98 to 1.91; P ‹ 0.00001), Spine BMD (MD = 1.93, 95% CI = 1.42 to 2.44; P ‹ 0.00001), serum creatinine concentration (MD= -0.02, 95% CI=-0.03 to -0.01; P ‹ 0.00001) and eGFR (MD = 3.55, 95% CI = 2.97 to 4.14; P ‹ 0.00001). However, the TAF group showed a significantly greater proportion of patients (46/1080 vs. 5/662) with LDL levels > 190 or 300 mg/dl than the TDF group (RR = 4.95, 95% CI = 1.21 to 20.29; P = 0.03). Conclusion: The TAF demonstrated improved BMD and renal function compared to TDF. There was no significant difference between TAF and TDF in achieving viral suppression. Clinical trial number: This was a systematic review and meta-analysis not a clinical trial. Study registration: This systematic review and meta-analysis is registered at PROSPERO (CRD42023456006).