Autoantibody profile in a cohort of Algerian patients with systemic sclerosis.

Aim: To describe the autoantibody profile in a cohort of Algerian patients with systemic sclerosis (SSc) and to determine clinical associations between SSc-related autoantibodies, disease subtypes and specific clinical features.

Methods: Consecutive Algerian patients with SSc were included in the present study. In addition to clinical characterization, all subjects underwent autoantibody testing using indirect immunofluorescence, immunoenzymatic, and line immunoblot assays.

The morbid genome of ciliopathies: an update.

Purpose: Ciliopathies are highly heterogeneous clinical disorders of the primary cilium. We aim to characterize a large cohort of ciliopathies phenotypically and molecularly.

Methods: Detailed phenotypic and genomic analysis of patients with ciliopathies, and functional characterization of novel candidate genes.

[Research progress of 12-HETE in the inflammation and oxidative stress].

12-HETE is a metabolite of arachidonic acid (AA). AA is normally present in membrane phospholipids. The exposure to different stimuli can trigger the release of AA through the activity of phospholipase A (PLA) by cells.

A 27-kg Giant Ovarian Mucinous Cystadenoma in a 72-Year-Old Postmenopausal Patient: A Case Report.

BACKGROUND Mucinous cystadenoma is a benign cystic ovarian tumor arising from the surface epithelium of the ovary; it usually presents with vague, unspecific abdominal symptoms. If not detected early, they have the potential to grow to a substantial size and can present with huge abdominal distention leading to various compression symptoms. Mucinous cystadenomas most commonly occur in the third to sixth decades of life, and rarely occur in extremes of age.

Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34.

The wobble position in the anticodon loop of transfer ribonucleic acid (tRNA) is subject to numerous posttranscriptional modifications. In particular, thiolation of the wobble uridine has been shown to play an important role in codon-anticodon interactions. This modification is catalyzed by a highly conserved CTU1/CTU2 complex, disruption of which has been shown to cause abnormal phenotypes in yeast, worms, and plants.

Mixed Cryoglobulinemia in a Patient with Juvenile Idiopathic Arthritis.

Cryoglobulinemia is a rare illness of cryoglobulin accumulation in the blood which can typically present with arthralgia, purpura, skin ulcers, glomerulonephritis, and peripheral neuropathy. It is classified as mixed cryoglobulinemia when cryoglobulins contain more than one immune component such as IgM rheumatoid factor and polyclonal IgG. Typically, it presents in the setting of clonal hematologic disease, viral infection, or certain connective tissue diseases.

Complex regional pain syndrome: diagnosis and treatment at the very onset as the key to success? A case report with implications for first contact doctors.

The case report describes a 67-year-old man who suffered from a minor left ankle injury. Physical examination on day 12 revealed swelling of the foot, erythema on its dorsal surface as well as elevated temperature, hyperesthesia, hyperalgesia and allodynia of that area. The treatment included local application of dexamethasone and oral administration of meloxicam.

[A new warning scoring system establishment for prediction of sepsis in patients with trauma in intensive care unit].

Objective: To analyze the risk factors of patients with trauma in intensive care unit (ICU), a new warning scoring system is established for predicting the incidence of sepsis in traumatic patients; and to provide a new simple method of clinical score, which could provide a reference for clinical prevention and treatment of sepsis.

Methods: The clinical data of 591 patients with trauma in the ICU of the Army Specialized Medical Center of Army Medical University and Affiliated Hospital of Zunyi Medical University from January 2012 to December 2017 were retrospectively analyzed. The patients were divided into sepsis group (n = 382) and non-sepsis group (n = 209) according to their clinical outcome.

Filgrastim prophylaxis in elderly cancer patients in the real-life setting: a French multicenter observational study, the TULIP study.

Purpose: Few studies are currently available among elderly patients, justifying the need for better understanding of daily medical practices in terms of use of growth factors to prevent chemotherapy (CT)-induced neutropenia. The primary objective of this study was to describe the use of filgrastim in the elderly.

Methods: Cancer patients aged 65 years and above, undergoing CT and initiating a prophylactic treatment with filgrastim, were enrolled.

Preferred Experience of Modifications to Emergency Surgical Treatment for Total Scalp Avulsion With Halo-Vest Head Ring and Quick Hair Removing.

Background: Total scalp avulsion is a fairly rear but severe soft tissue injury. Even with microsurgical replantation, the survival rate is still low. In this study, the authors incorporated 2 main modifications (Halo-Vest head ring and quick hair removing) and assessed the surgical outcomes versus those of traditional replantation.

Inflammatory bowel disease epidemiology in São Paulo State, Brazil.

Purpose: This study aimed to estimate the incidence and prevalence of inflammatory bowel disease (IBD) in São Paulo, Brazil, for 2012-2015.

Patients And Methods: This observational, descriptive, and cross-sectional study included 22,638 IBD patients out of 43,046,555 inhabitants, who had initiated their treatment through the Governmental Program of the Brazilian Unified National Health System between the years of 2012 and 2015. The onset of the disease (used to determine incidence) was established as the date of the patient's initial registration in the Governmental Program with a diagnosis for Crohn's disease (CD) or ulcerative colitis (UC).

Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer.

Purpose Over the past three decades, the incidence rate of breast cancer (BC) among Arab women has continually increased. However, data on the prevalence of BRCA1/2 mutations are scarce. Although the population in Saudi Arabia is at large homogeneous and consanguinity is common, especially in the central, eastern, and southern regions of the country, the prevalence of BRCA1 and BRCA2 mutations and the characteristics of BC are not well studied in the country.

Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.

Retinal dystrophies (RDs) are hereditary blinding eye conditions that are highly variable in their clinical presentation. The remarkable genetic heterogeneity that characterizes RD was a major challenge in establishing the molecular diagnosis in these patients until the recent advent of next-generation sequencing. It remains unclear, however, what percentage of autosomal recessive RD remain undiagnosed when all established RD genes are sequenced.

Long standing biliary colic masking chylous ascites in laparoscopic roux-en-Y gastric bypass; a case report.

Background: Chylous ascites is considered to be an intra-abdominal collection of creamy colored fluid with triglyceride content of > 110 mg/dL. Chylous ascites is an uncommon but serious complication of numerous surgical interventions. However, it is a rare complication of LRYGB.

The clinical impact of using complex molecular profiling strategies in routine oncology practice.

Molecular profiling and functional assessment of signalling pathways of advanced solid tumours are becoming increasingly available. However, their clinical utility in guiding patients' treatment remains unknown. Here, we assessed whether molecular profiling helps physicians in therapeutic decision making by analysing the molecular profiles of 1057 advanced cancer patient samples after failing at least one standard of care treatment using a combination of next-generation sequencing (NGS), immunohistochemistry (IHC) and other specific tests.

Closed tube loop-mediated isothermal amplification assay for rapid detection of hepatitis B virus in human blood.

Recently, many studies have demonstrated the significant advantages of loop-mediated isothermal amplification (LAMP) based methods over serological tests and PCR for rapid detection of microbial pathogens. Here, a rapid LAMP assay was developed to detect the hepatitis B virus (HBV) from DNA, and particularly, blood samples from infected patients using a commercially available master mix and portable real-time fluorometer. The final optimized fluorescence-based LAMP assay provided significant amplification time of less than 15 minutes compared with over 1 hour for PCR and an opened tube LAMP system described previously.

Ogilvie's Syndrome after Cesarean Section: Case Report in Saudi Arabia and Management Approach.

Background: Acute colonic pseudoobstruction or Ogilvie's syndrome is a rare entity that is characterized by acute dilatation of the colon without any mechanical obstruction. It is usually associated with medical disease or surgery and rarely occurs spontaneously. If not diagnosed early, Ogilvie's syndrome may cause bowel ischemia and perforation.

The evaluation and management of respiratory disease in children with Down syndrome (DS).

Children with Down syndrome (DS) have wide range of respiratory problems. Although underlying abnormalities in the respiratory system are important causes of morbidity and mortality in children with DS, particularly in the young, abnormalities in other organ systems may also impact respiratory function. A comprehensive evaluation of the child with DS and respiratory disease may prevent short-term morbidity and mortality, and reduce the incidence of complications in the long term.

ST-Elevation Myocardial Infarction Due to Left Anterior Descending Artery Occlusion Presenting Primarily with Otalgia.

BACKGROUND Myocardial infarction (MI) is one of the most serious conditions presenting to the Emergency Department. Typical/classical symptoms of MI include chest pain and tightness that is referred to the left arm. CASE REPORT We present a case of ST-elevation myocardial infarction (STEMI) with a primary atypical presentation of right ear pain.