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The analyses of large volumes of metagenomic data extracted from aggregate populations of microscopic organisms residing on and in the human body are advancing contemporary understandings of the integrated participation of microbes in human health and disease. Next generation sequencing technology facilitates said analyses in terms of diversity, community composition, and differential abundance by...
Sweet syndrome is rare in the pediatric population and usually responds well to treatment, resolving without sequelae. Marshall syndrome is a rare pediatric skin disease characterized by loss of elastic tissue (cutis laxa) secondary to acquired, localized neutrophilic dermatitis without any internal organ involvement. Only few cases of Marshall syndrome (acquired cutis laxa type II) have been repo...
Anxiety and mood symptoms often co-occur with gastrointestinal problems, such as irritable bowel syndrome (IBS). The extent to which these relate to Obsessive-Compulsive Disorder (OCD) is unclear, despite anxiety being a prominent symptom of this disorder. The purpose of this analysis was to examine gastrointestinal symptoms in unmedicated, non-depressed adult OCD patients compared to age- and sex...
Chronic renal failure (CRF) is a serious disease that has become a burden on global and local economics and public health. In addition, non-thyroidal illness syndrome (NTIS) has become increasingly more prevalent in CRF patients.
Liddle syndrome (LS) is a rare autosomal dominant disease caused by mutations in genes coding for epithelial sodium channel (ENaC) subunits. The aim of this study was to identify the mutation responsible for the LS in an extended Chinese family.
Evidence suggests there to be an association between chronic pain and disruption of the body schema. We tested the hypothesis in fibromyalgia syndrome.
Von Hippel-Lindau (VHL) syndrome is an autosomal dominant genetic disorder caused by germline mutation of the VHL gene. It is associated with multiple neoplasias including hemangioblastoma, clear cell renal cell carcinoma, pheochromocytoma, and neuroendocrine tumors. Ovarian tumors are extremely rare in this syndrome. We describe the case of a 16-yr-old girl with a previous diagnosis of bilateral ...
To evaluate oral, craniofacial and systemic characteristics of eight patients with Kabuki syndrome (KS), aged between 3 and 16 years old.
Accumulating evidence suggests that cardiovascular disease (CVD) is highly prevalent among patients with concurrent obstructive sleep apnoea syndrome (OSAS) and chronic obstructive pulmonary disease (COPD), otherwise known as overlap syndrome (OS).
At least 15 candidate genes have been implicated in hypoparathyroidism (HP). However, comprehensive screening of causative genes for HP is lacking. Here, we investigated the genotype spectrum in a large group of Chinese patients with childhood onset HP. A total of 173 patients with childhood onset HP were analyzed using targeted next-generation sequencing (NGS), including 15 candidate genes combin...
Preterm birth remains a major complication of fetal laser surgery (FLS) due to twin-to-twin transfusion syndrome (TTTS).
Constipation is a common symptom that impairs the quality of life (QOL). This study aimed to investigate the relationship between bowel movement and gut microbiota and dietary intake.
Patients with short bowel syndrome (SBS) commonly develop nephrolithiasis. However, the risk factors for nephrolithiasis in patients with SBS remain unclarified. The present study aimed to identify the risk factors for nephrolithiasis in adults with SBS.
In a double-blind placebo-controlled randomized trial with parallel groups, the efficacy of individually prescribed homeopathic medicines was evaluated in women with premenstrual syndrome (PMS).
Birth defects (BDs) are functional and structural alterations in embryonic or fetal development. With an incidence of approximately 3-5%, BDs are a leading cause of infant mortality and lifelong disability. A population-based prospective case-control study was conducted for one year with 5204 infants, between 1st March 2011 and 29th February 2012, in the city of São José do Rio Preto, State of S...
While clinical manifestations of anti-interferon-γ (IFN-γ) autoantibody-associated immunodeficiency syndrome have been reported, its natural history is not well understood.
We characterized exposures and demographics of Middle East respiratory syndrome coronavirus cases reported to the Saudi Arabia Ministry of Health during July 1-October 31, 2017, and June 1-September 16, 2018. Molecular characterization of available specimens showed that lineage 5 predominated among circulating viruses during these periods.
Meningocele manqué is characterized by tethering of the spinal cord, nerve roots, or filum terminale by fibrous attachments formed by atrophic or incomplete meningoceles. Patients with MM may present with symptoms of tethered cord syndrome.
PRéCIS:: This case series reports safe, effective implantation of XEN gel stents to treat iridocorneal endothelial (ICE) syndrome. The stents continue to function well and have not been occluded by membranes or peripheral anterior synechiae, but continued follow-up is necessary.
Fever of unknown origin (FUO) continues to present a clinical conundrum for even expert practitioners. The syndrome of FUO has over 200 possible etiologies. Burkitt lymphoma (BL) is a highly aggressive B-cell non-Hodgkin lymphoma with only 1,200 US adult cases reported annually. Fever, night sweats, and weight loss, otherwise known as B symptoms, are common early symptoms of BL. Nerve palsy, espec...
Mycophenolate mofetil (MMF) plays an increasingly important role in the treatment of children with nephrotic syndrome, especially in steroid sparing protocols. Recent publications show the relationship of exposure to its active moiety mycophenolic acid (MPA) and clinical efficacy. Performance of full time pharmacokinetic (PK) profiles, however, is inconvenient and laborious. Established limited sa...
Neuroendocrine tumors (NETs) arise from enterochromaffin cells found in neuroendocrine tissues, with most occurring in the gastrointestinal tract. The global incidence of NETs has increased in the past 15 years, likely due to better diagnostic methods. Small-bowel NETs are frequently associated with carcinoid syndrome (CS). Carcinoid syndrome diarrhea occurs in 80% of CS patients and poses a subst...
Oedema is a common clinical symptom in people with nephrotic syndrome and human albumin has been widely used in the treatment of oedema by increasing vascular volume and this inducing diuresis. It may be used with or without diuretics such as furosemide. However, the quantitative contribution of human albumin in treating oedema is not fully understood. If human albumin were found to be effective a...
Very early-onset inflammatory bowel disease (VEO-IBD), defined as IBD diagnosed before six years of age, tends to be refractory to conventional treatment for IBD. However, there have been a few reports about the usage of infliximab for VEO-IBD. This study aimed to evaluate the efficacy and safety of infliximab for VEO-IBD.
The global magnitude of metabolic syndrome among antiretroviral therapy (ART) exposed and ART-naïve adult HIV-infected patients in gedio-zone, southern Ethiopia: Comparative cross-sectional study, using the Adult Treatment Panel III criteria.
The global operation of antiretroviral therapy (ART) has averted 30 million new infections and nearly 8 million deaths; however, it has an impact on metabolic syndrome (MS) acquisition. As a result, there is growing concern about MS; but strangely the magnitude of MS in HIV-infected cohort, and its differential contribution ART status in Ethiopia has yet to be abundantly studied. Hence, the aim of...