Overlap syndrome

This case report highlights the uncommon idiopathic hypereosinophilic syndrome (HES) complicating beta-thalassemia major, presenting a diagnostic and management challenge. Beta-thalassemia major, characterized by impaired beta-globin synthesis, necessitates regular blood transfusions and iron chelation therapy. HES, a rare disorder marked by persistent eosinophilia, adds complexity to the clinical course. We present the case of a 27-year-old male with beta-thalassemia major who developed fever, weakness, and weight loss and was subsequently diagnosed with HES...

BACKGROUND: Hepatocellular carcinoma (HCC) is a globally prevalent malignancy accompanied by high incidence, poor outcomes, and high mortality. Anthocyanins can inhibit tumor proliferation, migration, invasion, and promote apoptosis. Moreover, autophagy-related genes (ARGs) may play vital roles in HCC progression. This study aimed to decipher the mechanisms through which anthocyanins influence HCC via ARGs and to establish a novel prognostic model. METHODS: Based on data from public databases, differential analysis and the Venn algorithm were employed to detect intersecting genes among differentially expressed genes (DEGs), anthocyanin- related targets, and ARGs...

BACKGROUND: The 15q11-q13 region is a genetic locus with genes subject to genomic imprinting, significantly influencing neurodevelopment. Genomic imprinting is an epigenetic phenomenon that causes differential gene expression based on the parent of origin. In most diploid organisms, gene expression typically involves an equal contribution from both maternal and paternal alleles, shaping the phenotype. Nevertheless, in mammals, including humans, mice, and marsupials, the functional equivalence of parental alleles is not universally maintained...

A 63-year-old man developed reduced consciousness and dysphagia progressively. Examination and parameters were normal, except for a Glasgow Coma Scale score of seven, and his grading on the swallow water test increased from grade 1 to grade 5. Brain imaging and blood tests were unexplainable except by high plasma ammonia. His past medical history included cerebral infarction, hypertension and epilepsy induced by cerebral hyperperfusion syndrome. He was rceiving antiepileptic treatment of continuously intravenously pumped sodium valproate of 64 mg/h for 4 days, which overlapped for 12 hours with taking 500 mg sustained release tablets...

Casitas B-lineage lymphoma (CBL) encodes an adaptor protein with E3-ligase activity negatively controlling intracellular signaling downstream of receptor tyrosine kinases. Somatic CBL mutations play a driver role in a variety of cancers, particularly myeloid malignancies, whereas germline defects in the same gene underlie a RASopathy having clinical overlap with Noonan syndrome (NS) and predisposing to juvenile myelomonocytic leukemia and vasculitis. Other features of the disorder include cardiac defects, postnatal growth delay, cryptorchidism, facial dysmorphisms, and predisposition to develop autoimmune disorders...

X-linked epilepsies are a heterogeneous group of epileptic conditions, which often overlap with X-linked intellectual disability. To date, various X-linked genes responsible for epilepsy syndromes and/or developmental and epileptic encephalopathies have been recognized. The electro-clinical phenotype is well described for some genes in which epilepsy represents the core symptom, while less phenotypic details have been reported for other recently identified genes. In this review, we comprehensively describe the main features of both X-linked epileptic syndromes thoroughly characterized to date ( PCDH19 -related DEE, CDKL5 -related DEE, MECP2 -related disorders), forms of epilepsy related to X-linked neuronal migration disorders (e...

TRAF7 -related disorders represent some of the rarest inherited disorders, exhibiting clinical features that overlap with cardiac, facial, and digital anomalies with developmental delay (CAFDADD) syndrome, as well as blepharophimosis-mental retardation syndrome (BMRS). A 36-year-old male, presenting with total blindness, blepharophimosis, and intellectual disability, was admitted for the assessment of resting dyspnea several months previously. He had a history of being diagnosed with obstructive sleep apnea (OSA)...

The Nitrosogenesis of skin cancer is a modern newly introduced concept in medicine, mainly concerning melanoma, but also keratinocytic cancers such as basal cell carcinoma. The nitroso-contamination of more than 300 drugs worldwide and the permanent (relatively short-term) intake of mutagen-contaminated drugs could create serious prerequisites for the development of skin cancer. Retrospective but also prospective analyses following potentially contaminated polymedication with a heterogeneous type of nitrosamines in real patients are indicative of a causal connection rather than a sporadic association between 1) intake of a possibly nitrosamine-contaminated drug and 2) generation of keratinocytic skin cancer...

Stertor, a clinical sign associated with obstructive airway syndrome, is often observed in non-brachycephalic dogs. This prospective, case-control study aimed to compare soft palate dimensions, nasopharyngeal cross-sectional area (CSA), and nasopharyngeal collapsibility at various locations in non-brachycephalic dogs with and without stertor. A total of 50 dogs were recruited and stratified into control (n = 34) and stertor (n = 13) groups. Static and dynamic computed tomography was conducted without tracheal intubation, and the following variables were calculated: normalized soft palate length and thickness, normalized maximum and minimum nasopharyngeal CSAs (rCSAmax and rCSAmin), and nasopharyngeal collapsibility at the level of the cranial end of the soft palate, pterygoid hamulus, foramen lacerum, bony labyrinth, and caudal end of the soft palate...

Multiple autoimmune syndrome is a manifestation of polyautoimmunity with the co-occurrence of three or more autoimmune diseases in a single patient. We report a unique case of a 55-year-old female patient that presented with four autoimmune diseases: autoimmune thyroid disease, vitiligo, morphea, and lichen sclerosus. She was evaluated for progression of morphea and lichen sclerosus, and we confirmed histopathological overlapping of these two diseases in the same lesion. We discuss the increasing prevalence of autoimmune diseases and similar case reports on dermatological polyautoimmunity...

Collagen VI and collagen XII are structurally complex collagens of the extracellular matrix (ECM). Like all collagens, type VI and XII both possess triple-helical components that facilitate participation in the ECM network, but collagen VI and XII are distinct from the more abundant fibrillar collagens in that they also possess arrays of structurally globular modules with the capacity to propagate signaling to attached cells. Cell attachment to collagen VI and XII is known to regulate protective, proliferative or developmental processes through a variety of mechanisms, but a growing body of genetic and biochemical evidence suggests that at least some of these phenomena may be potentiated through mechanisms that require coordinated interaction between the two collagens...

Dengue fever and hepatitis A are endemic infections caused by viruses that mostly affect developing countries (Volchkova et al. , 2016). Co-infection is rare, and represents a diagnostic challenge due to their overlapping symptoms (Yakoob et al. , 2009). The febrile syndrome accompanied by abdominal pain and vomiting are the common clinical manifestations of both pathologies. However, confirmation of diagnosis depends on laboratory tests ( Khetarpal and Khanna, 2016; Abutaleb and Kottilil, 2020). We report a case of a young female with dengue and hepatitis A co-infection...

A major genetic risk factor for psychosis is 22q11.2 deletion (22q11.2DS). However, robust and replicable functional brain signatures of 22q11.2DS and 22q11.2DS-associated psychosis remain elusive due to small sample sizes and a focus on small single-site cohorts. Here, we identify functional brain signatures of 22q11.2DS and 22q11.2DS-associated psychosis, and their links with idiopathic early psychosis, using one of the largest multi-cohort data to date. We obtained multi-cohort clinical phenotypic and task-free fMRI data from 856 participants (101 22q11...

The 16p11.2 deletion syndrome is a clinically heterogeneous disorder, characterized by developmental delay, intellectual disability, hyperphagia, obesity, macrocephaly and psychiatric problems. Cases with 16p11.2 duplication syndrome have similar neurodevelopmental problems, but typically show a partial 'mirror phenotype' with underweight and microcephaly. Various copy number variants (CNVs) of the chromosomal 16p11.2 region have been described. Most is known about the 'typical' 16p11.2 BP4-BP5 (29.6-30.2 Mb; ~600 kb) deletions and duplications, but there are also several published cohorts with more distal 16p11...

Persistent congenital hyperinsulinism (HI) is a rare genetically heterogeneous condition characterised by dysregulated insulin secretion leading to life-threatening hypoglycaemia. For up to 50% of affected individuals screening of the known HI genes does not identify a disease-causing variant. Large deletions have previously been used to identify novel regulatory regions causing HI. Here, we used genome sequencing to search for novel large (>1 Mb) deletions in 180 probands with HI of unknown cause and replicated our findings in a large cohort of 883 genetically unsolved individuals with HI using off-target copy number variant calling from targeted gene panels...

In addition to the respiratory symptoms associated with COVID-19, the disease has consistently been linked to many autoimmune diseases such as systemic lupus erythematous and antiphospholipid syndrome (APS). APS in particular was of paramount significance due to its devastating clinical sequela. In fact, the hypercoagulable state seen in patients with acute COVID-19 and the critical role of anticoagulant treatment in affected individuals shed light on the possible relatedness between APS and COVID-19. Moreover, the role of autoimmunity in the assumed association is not less important especially with the accumulated data available regarding the autoimmunity-triggering effect of SARS-CoV-2 infection...

RASopathies are a heterogeneous group of genetic syndromes caused by germline mutations in a group of genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include neurofibromatosis type 1, Legius syndrome, Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome, central conducting lymphatic anomaly, and capillary malformation-arteriovenous malformation syndrome. These disorders are grouped together as RASopathies based on our current understanding of the Ras/MAPK pathway...

This is a case of a 45-year-old Caucasian female with coxsackievirus-induced myocarditis. Myocarditis is an inflammation of the heart muscles, which can be difficult to diagnose at times because its symptoms overlap with other cardiovascular diseases. At times, when the patient presents, the full impact of the etiology would have either improved or resolved. In this case, the patient presented with symptoms closely resembling that of acute coronary syndrome but did not fit the typical age category. After lab and imaging workup, the coxsackievirus panel was positive, complicated with a new diagnosis of systolic heart failure with an ejection fraction of 30%-35% along with pericardial effusion...

Objective Gastrointestinal (GI) disorders such as functional dyspepsia (FD), irritable bowel syndrome (IBS), gastroesophageal reflux disease (GERD), and inflammatory bowel disease (IBD) can exhibit overlapping GI symptoms, including abdominal pain and alterations in bowel habits. The symptoms of GI disorders are commonly considered to be triggered and exacerbated by fatty food intake. Therefore, this study aimed to compare the food preferences of patients with GI disorders. Methods Forty food images (including fatty and light foods) and 20 animal images were selected to evaluate food preferences...

BACKGROUND: Hemophagocyticlymphohistiocytosis (HLH) is a spectrum of immune activation which could be genetically determined, or secondaryto an underlying illness. Our aim was to present the clinico-genetic aspects ofHLH among Egyptian children and to evaluate the patterns of reactivation and outcomewith illustrations of overlap manifestations. RESEARCH DESIGNAND METHODS: We retrospectively collected the data of 55patients with HLH, registered at Ain Shams University Children's Hospital,Cairo, Egypt...