Articles Related to dysfunction

Primary coenzyme Q10 deficiency-4 (CoQ10D4) is an autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Molecular pathology responsible for clinical findings is mitochondrial respiratory chain dysfunction. The main clinical manifestation involves early-onset exercise intolerance, progressive cerebellar ataxia and movement disorders. Some affected individuals develop seizures and have mild mental impairment, indicating variable severity.

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Prevention of obstetric trauma from damage to the pelvic floor is not always possible and sacral nerve stimulation (SNS) may be necessary later in life. Sacral nerve stimulation has been a promising innovation in the management of moderate to severe faecal incontinence and following sphincter repair failure. Although the indication spectrum for SNS is expanding, the success of neuromodulation for constipation is limited. Adverse events of SNS requiring reintervention are not common but a long-term successful outcome may depend on interventions for maintenance of the device.

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Dermatopathic lymphadenitis (DL) is considered a benign disease, the symptoms of which can be relieved with only anti–histamine. It can be confused with lymphoma. Here, we report a case of DL, which resulted in hemophagocytic lymphohistiocytosis (HLH). After adequate treatment, remission was obtained at first; however, recurrence with liver failure occurred six months later, which quickly resulted in death. This particular case has not been reported elsewhere. It reminds us that even benign dermatological problems can cause life–threatening syndromes, such as, in this case, HLH. The risk needs to be taken seriously in patients presenting with fever, skin problems, and lymphadenopathy.

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Metabolic Syndrome (MetS) has been associated with subclinical changes in cardiac structure and function, including left ventricular diastolic dysfunction (LVDD) and is strong risk factors for the future development of clinical heart failure, and specifically increases the risk of heart failure with preserved ejection fraction. To date, the evidence on the prevalence of subclinical LVDD in patient with MetS and relation to components of the MetS, in west region of the Republic of Macedonia are scarce.

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A 21 day-old boy infant was admitted to pediatric intensive care unit with hypotonia, jaundice and abdominal distention. He was born at 37th week of gestation from first cousin Saudi parents via cesarian section with a birth weight of 2200 g. Physical examination revealed the weight, the length was and the head circumference were <3rd percentile. Dysmorphic features included flattened nasal bridge, high arched palate, lax skin and micrognathia. There were generalized hypotonia, hepatomegaly, abdominal distention and multiple contractures such as radial deviation of the wrist joint (Figure 1).

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Sphincter of Oddi dysfunction (SOD) is a known gastrointestinal disorder that has been well documented but is difficult to diagnose noninvasively.

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Hepatic dysfunction is rarely the presenting feature of malignancy, however it is important to recognize early on as the quick institution of chemotherapy could potentially reverse the liver disease.

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The use of bio-perfusion as active method of energo-modulation and suspension of PICS expansion, which depends on the elimination of hypo(an)ergic mitochondria performed through a lysosomal clearance (mitophagy) so as to maintain the eu-ergic mitochondria which are able to contribute to the formation of cell energy, and ultimately, to the whole body as macroergic system.

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Secretory villous adenoma is characterized with watery diarrhea, which may lead to dehydration, with resulting volume depletion, electrolyte imbalance, circulatory failure and renal dysfunction. We hereby report a case of villous adenoma associated with severe electrolyte imbalance complicated by diabetes insipidus.

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Ovarian cancer constitutes the second most common gynecological cancer with a five-year survival rate of 40%. Among the various histotypes associated with hereditary ovarian cancer, high-grade serous epithelial ovarian carcinoma (HGSEOC) is the most predominant and women with inherited mutations in BRCA1 have a lifetime risk of 40-60%. HGSEOC is a challenge for clinical oncologists, due to late presentation of patient, diagnosis and high rate of relapse. Ovarian tumors have a wide range of clinical presentations including development of ascites as a result of deregulated endothelial function thereby causing increased vascular permeability of peritoneal vessels.

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Hydatid disease is caused by the larval form of parasitic tapeworm; Echinococcus granulosus. Primary spinal hydatid disease is rare. Primary bone localization is rare and it accounts between 0.5% and 4%. Spinal localization accounts for less than 1%. The infection may be misdiagnosed initially.

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The recent resurgence of interest in m6A has been spurred by some intriguing findings detailing the effects and dynamics of this epigenetic modification. The m6A modification is a highly reactive and fluid modification which can respond rapidly to a broad variety of stimuli, and translate these signals into cellular activity. The little information that has been established on its functional capacity has opened up many new avenues of research and has tremendous implications for several fields of study.

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People who regularly have breakfast are a third less likely at risk, of being obese than those who are breakfast skippers. The study aims to find the relationship between breakfast and sleeping habits with adiposity among medical students.

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The present investigation was undertaken to evaluate the therapeutic efficacy and safety of Crominex 3+ (a complex of trivalent chromium, Phyllanthus emblica (Amla) extract and purified Shilajit) in moderately arthritic dogs.

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Causes for syncope are multifaceted. Hormonal etiology, specifically hypothyroidism, is associated with cardiac arrhythmias. Sinus bradycardia, low voltage, nonspecific T-wave changes and dissociative atrioventricular (AV) abnormalities are some of descriptive electrocardiographic features.

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