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Genes ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 39
Author(s):  
Rafaela Policarpo ◽  
Constantin d’Ydewalle

With the ongoing demographic shift towards increasingly elderly populations, it is estimated that approximately 150 million people will live with Alzheimer’s disease (AD) by 2050. By then, AD will be one of the most burdensome diseases of this and potentially next centuries. Although its exact etiology remains elusive, both environmental and genetic factors play crucial roles in the mechanisms underlying AD neuropathology. Genome-wide association studies (GWAS) identified genetic variants associated with AD susceptibility in more than 40 different genomic loci. Most of these disease-associated variants reside in non-coding regions of the genome. In recent years, it has become clear that functionally active transcripts arise from these non-coding loci. One type of non-coding transcript, referred to as long non-coding RNAs (lncRNAs), gained significant attention due to their multiple roles in neurodevelopment, brain homeostasis, aging, and their dysregulation or dysfunction in neurological diseases including in AD. Here, we will summarize the current knowledge regarding genetic variations, expression profiles, as well as potential functions, diagnostic or therapeutic roles of lncRNAs in AD. We postulate that lncRNAs may represent the missing link in AD pathology and that unraveling their role may open avenues to better AD treatments.


Author(s):  
Hisham Abdullah Almottowa ◽  
Hassan Hamdan Almohammadi ◽  
Hamzah Abdulaziz Alwehaimed ◽  
Osamah Salem Alsawat ◽  
Abdullah Sulaiman Alboseer ◽  
...  

There is currently no specific evidence regarding the exact etiology of anal fissures. However, various management options were reported and validated among the relevant research. Lateral internal sphincterotomy has been validated among relevant investigations in the literature as a valid modality for managing patients with chronic anal fissures. In the present literature review, we formulated evidence based on these studies to compare open and closed techniques of this surgery according to the reported outcomes. However, evidence regarding the superiority of either of the techniques over the other is not consistent among these investigations. For instance, some studies reported that closed sphincterotomy is more favorable than the open approach and should be considered the treatment choice for chronic anal fissures. This is because the technique is associated with less frequent rates of complications, less expensive, safe, and effective. On the other hand, many other relevant studies also demonstrated that the reported outcomes for the two modalities exhibited non-significant differences. Therefore, we suggest that researchers should furtherly conduct additional investigations before drawing any conclusions in this field.


Author(s):  
Jaafari, Fatimah Rasheed M. ◽  
Alanood Mansour Somili ◽  
Ghaliah Ahmed Rubaydi ◽  
Lujain Mahdi Hussin Masmali ◽  
Fareedi Mukram Ali

Supernumerary teeth are defined as those in addition to the normal series of deciduous or permanent dentition. Supernumerary teeth are more prevalent among males and in the permanent dentition. The exact etiology of supernumerary teeth is unknown, they may occur anywhere in the oral cavity. They may appear as a single tooth or multiple teeth, unilaterally or bilaterally, erupted or impacted in maxilla or both jaws. Fourth molars, also called distomolars, are a variant in shape and number appearing as alterations during odontogenesis. They can be eumorphic or dismorphic, single or multiple, erupted or impacted, unilateral or bilateral, and can appear in both jaws. They are of unknown etiology, but there are several theories to justify these tooth alterations such as dental lamina duplication, its horizontal proliferation or its hyperactivity. Hereby, we are presenting a unique case report of presence of three distomolars in a single patient at maxillary left side and mandibular right and left side.


Author(s):  
Mounther Mohammed A. Alnaim ◽  
Sarah Abdulla A. Bukhamsin ◽  
Yasamiyan Ali AlBurayh ◽  
Mahmoud Refat S. Alshadly ◽  
Khalid Waleed M. Almaslamani ◽  
...  

Tension-type headache (TTH) is the most prevalent primary headache problem, affecting 46 percent to 78 percent of people at some point in their lives. However, the majority have episodic infrequent TTH (1 day per month or fewer) with no specific need for medical treatment. The diagnosis is made based on the patient's medical history and physical examination. The exact etiology of tension-type headache is unknown. The most likely cause of rare tension-type headaches is activation of hyperexcitable peripheral afferent neurons from head and neck muscles. Nondrug management is commonly utilized and should be considered for all patients with TTH. The scientific evidence for the efficacy of most treatment approaches, on the other hand, is limited. Pharmacological treatment depends on whether the headache is acute or chronic. In this review we will cover the disease epidemiology, etiology, diagnosis, and management. The aim is to study the Causes and Treatment of Tension Headache method a population-based study in Denmark,  About 24% to 37% of the population experienced TTH several times a month, 10% had it weekly, and 2% to 3% of the population had chronic TTH, In contrast to migraine, women are only slightly more affected than males (the female-to-male ratio of TTH is 5:4), and onset is delayed (25 to 30 years). Between the ages of 30 and 39.


2021 ◽  
Vol 10 (24) ◽  
pp. 5779
Author(s):  
Lumír Kunovský ◽  
Petr Dítě ◽  
Petr Jabandžiev ◽  
Michal Eid ◽  
Karolina Poredská ◽  
...  

Exocrine pancreatic insufficiency (EPI), an important cause of maldigestion and malnutrition, results from primary pancreatic disease or is secondary to impaired exocrine pancreatic function. Although chronic pancreatitis is the most common cause of EPI, several additional causes exist. These include pancreatic tumors, pancreatic resection procedures, and cystic fibrosis. Other diseases and conditions, such as diabetes mellitus, celiac disease, inflammatory bowel disease, and advanced patient age, have also been shown to be associated with EPI, but the exact etiology of EPI has not been clearly elucidated in these cases. The causes of EPI can be divided into loss of pancreatic parenchyma, inhibition or inactivation of pancreatic secretion, and postcibal pancreatic asynchrony. Pancreatic enzyme replacement therapy (PERT) is indicated for the conditions described above presenting with clinically clear steatorrhea, weight loss, or symptoms related to maldigestion and malabsorption. This review summarizes the current literature concerning those etiologies of EPI less common than chronic pancreatitis, the pathophysiology of the mechanisms of EPI associated with each diagnosis, and treatment recommendations.


Author(s):  
Rodriguez-Rivas Luis Ricardo ◽  
◽  
Reyes-Vaca Jorge Guillermo ◽  
Vázquez-Guevara Damaris Daniela ◽  
Rodriguez-Leyva Ildefonso ◽  
...  

Status Epilepticus and epilepsy-related MRI vanishing changes have been reported in the literature since the 1980s; hypoxia and hypoperfusion have been related to these image modifications. These alterations and their disappearing characteristics can cause trouble among work up and their diagnosis, especially if there is no exact etiology of what is causing seizures. We present a case of a 37-year-old righthanded man with a 6-year history followed up after seizure debut, with no exact etiology at the first event, considering an ischemic event as etiology. After a six-year follow-up seizure-free and no sequels, the patient newly developed aphasia, seizures, and status epilepticus, with a now evident vascular abnormality (cavernous cerebral malformation) etiology in MRI imaging. The cumbersomeness of the clinical picture in its presentation, the seriousness to which it reached, and the complete resolution of the problem with medical treatment make this clinical case especially attractive.


Biomolecules ◽  
2021 ◽  
Vol 11 (11) ◽  
pp. 1680
Author(s):  
Vera H. W. de Wit-Verheggen ◽  
Tineke van de Weijer

In type 2 diabetes mellitus (T2DM), there is an increased prevalence of cardiovascular disease (CVD), even when corrected for atherosclerosis and other CVD risk factors. Diastolic dysfunction is one of the early changes in cardiac function that precedes the onset of cardiac failure, and it occurs already in the prediabetic state. It is clear that these changes are closely linked to alterations in cardiac metabolism; however, the exact etiology is unknown. In this narrative review, we provide an overview of the early cardiac changes in fatty acid and glucose metabolism in prediabetes and its consequences on cardiac function. A better understanding of the relationship between metabolism, mitochondrial function, and cardiac function will lead to insights into the etiology of the declined cardiac function in prediabetes.


2021 ◽  

Pulsating varicose veins are a very rare clinical manifestation and mostly have been reported with tricuspid regurgitation or right ventricular dysfunction. The exact etiology and treatment options for this disease are rarely reported in the literature. In this article, we described a 45-year-old woman who had varicose veins in her both lower limbs when she came to our department. Venous ultrasound showed arterial-like pulsations in both superficial and deep veins of the lower extremities, and echocardiography showed severe tricuspid regurgitation. We gave the patient compression therapy for elastic stockings, and the patient's symptoms were significantly relieved. In addition, in this article, we reviewd other cases reported in the current literature and discussed appropriate treatment options for this disease


2021 ◽  
Vol 22 (21) ◽  
pp. 11328
Author(s):  
Helena Berlamont ◽  
Arnout Bruggeman ◽  
Eva Bauwens ◽  
Charysse Vandendriessche ◽  
Elien Clarebout ◽  
...  

The exact etiology of Parkinson’s disease (PD) remains largely unknown, but more and more research suggests the involvement of the gut microbiota. Interestingly, idiopathic PD patients were shown to have at least a 10 times higher prevalence of Helicobacter suis (H. suis) DNA in gastric biopsies compared to control patients. H. suis is a zoonotic Helicobacter species that naturally colonizes the stomach of pigs and non-human primates but can be transmitted to humans. Here, we investigated the influence of a gastric H. suis infection on PD disease progression through a 6-hydroxydopamine (6-OHDA) mouse model. Therefore, mice with either a short- or long-term H. suis infection were stereotactically injected with 6-OHDA in the left striatum and sampled one week later. Remarkably, a reduced loss of dopaminergic neurons was seen in the H. suis/6-OHDA groups compared to the control/6-OHDA groups. Correspondingly, motor function of the H. suis-infected 6-OHDA mice was superior to that in the non-infected 6-OHDA mice. Interestingly, we also observed higher expression levels of antioxidant genes in brain tissue from H. suis-infected 6-OHDA mice, as a potential explanation for the reduced 6-OHDA-induced cell loss. Our data support an unexpected neuroprotective effect of gastric H. suis on PD pathology, mediated through changes in oxidative stress.


2021 ◽  
pp. 19-19
Author(s):  
Priyanka Dhiman ◽  
Suman Yadav ◽  
Balchander Balchander ◽  
Daisy Dwivedi ◽  
Amit Verma

Congenital talipes equino varus (CTEV), also known as congenital club foot is one of the common developmental deformities occurring at ankle, subtalar and metatarsal joints. Three elements comprise this deformity- equinus, inversion of foot and adduction of the forefoot relative to the hind-foot and equinus. The incidence of the deformity is 1 per 1000 live births. 20% of cases are associated with distal arthrogryposis, congenital myotonic dystrophy, myelomeningocele, amniotic band sequence and genetic syndromes such as trisomy 18 or chromosome 22q11 deletion syndrome, in the remaining cases the deformity is isolated and the exact etiology is unknown. We are presenting a case of aborted male fetus of 20 weeks with congenital talipes equino varus in left foot with enlarged urinary bladder. The purpose of this report is to document the association of CTEV with enlarged urinary bladder.


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