Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis: An important cause of hypoglycemia in children

Objectives:To draw attention towards fructose-1,6-bisphosphatase (FBPase) deficiency as an important cause of hypoglycemia and lactic acidosis and to implement preventive strategies.Methods:This observational, cross-sectional study was conducted on 7 Saudi patients with genetically confirmed FBPase deficiency from 2008 to 2018 at Prince Sultan Military Medical City, Riyadh, Saudi Arabia.Results:Participants ranged in age from 1-10 years, and all presented with recurrent hypoglycemia. All but one had associated severe metabolic acidosis, and 3 patients (42.9%) presented with hypoglycemia and severe acidosis since birth. The mean duration from presentation to diagnosis was 39.4 months, as other diagnoses, like glycogen storage diseases and mitochondrial diseases needed to be ruled out. Development was normal apart from speech delay in one patient with a novel variant of the FBP1 gene. All patients have homozygous variants in the FBP1 gene.Conclusion:Fructose-1,6-bisphosphatase is an important cause of hypoglycemia and acidosis; therefore, it is important to offer early molecular diagnostics in any child presenting with these symptoms. Molecular diagnostics should always be undertaken to confirm the diagnosis and for further preventive strategies.     

NPHP4 mutation is linked to cerebello‐oculo‐renal syndrome and male infertility

Nephronophthisis is the most common genetic cause of renal failure in children and young adults. It is genetically heterogeneous and can be seen in isolation or in combination with other ciliopathy phenotypes. Here we report an index case where nephronophthisis is associated with oculomotor apraxia and cerebellar abnormalities, consistent with the clinical diagnosis of cerebello‐oculo‐renal syndrome. Prompted by a family history of an uncle with early onset end stage renal failure and infertility, we performed semen analysis on the index. This revealed marked reduction in the count of motile sperms as well as multiple abnormalities in the head and tail. Autozygome‐guided mutation analysis followed by exome sequencing and segregation analysis revealed a homozygous truncating mutation in NPHP4, indicating that mutations of this gene can on rare occasions cause cerebello‐oculo‐renal syndrome. Our finding of severe male infertility in a family with NPHP4 truncation is strongly supported by the mouse model and, to our knowledge, is the first reported male infertility phenotype in association with NPHP4 or any other nephrocystin in humans.     

The Relationship between Biofilm and Physical-Chemical Properties of Implant Abutment Materials for Successful Dental Implants

The aim of this review was to investigate the relationship between biofilm and peri-implant disease, with an emphasis on the types of implant abutment surfaces. Individuals with periodontal disease typically have a large amount of pathogenic microorganisms in the periodontal pocket. If the individuals lose their teeth, these microorganisms remain viable inside the mouth and can directly influence peri-implant microbiota. Metal implants offer a suitable solution, but similarly, these remaining bacteria can adhere on abutment implant surfaces, induce peri-implantitis causing potential destruction of the alveolar bone near to the implant threads and cause the subsequent loss of the implant. Studies have demonstrated differences in biofilm formation on dental materials and these variations can be associated with both physical and chemical characteristics of the surfaces. In the case of partially edentulous patients affected by periodontal disease, the ideal type of implant abutments utilized should be one that adheres the least or negligible amounts of periodontopathogenic bacteria. Therefore, it is of clinically relevance to know how the bacteria behave on different types of surfaces in order to develop new materials and/or new types of treatment surfaces, which will reduce or inhibit adhesion of pathogenic microorganisms, and, thus, restrict the use of the abutments with indication propensity for bacterial adhesion.     

Atypical presentation of primary giant nasal septal mucopyocele

Mucoceles are expansile, encapsulated, benign cystic lesions with the potential for adjacent bony remodeling and resorption. Previous nasal surgery, recurrent infections, allergies, and facial traumas are all possible causes of mucoceles involving mainly paranasal sinuses. When the mucocele is infected, it is referred to as mucopyocele. Nasal septal mucoceles seen in only very seldom cases might develop from pneumatized and infected nasal septa. In the current article, we present an interesting primary giant septal mucopyocele that destroys all paranasal cells as a tumoral lesion. The perpendicular plate of ethmoidal bone, vomer, and bilateral anterior and posterior ethmoidal cells were destroyed by mucopyocele. The nasal cavity was totally obstructed by lesions on both sides. On the left side, the lesion also eroded the left lateral nasal wall causing external swelling at the medial canthal region. This is the first case of a giant septal mucopyocele of its kind in the literature. Although nasal septal mucocele is very rare, it should be considered in differential diagnosis of intranasal masses.     

Serologic response to Epstein-Barr virus antigens in patients with systemic lupus erythematosus: a controlled study

Previous studies showed a link between systemic lupus erythematosus (SLE) and Epstein-Barr virus (EBV) infection. We sought to determine the features of serologic response to EBV in SLE patients and whether this response differs from those of systemic sclerosis (SSc) and primary antiphospholipid syndrome (PAPS) patients as well as healthy individuals. Sera from 198 consecutive SLE patients have been tested to detect IgG antibodies to EA/D, EBNA-1, VCA P18 and for comparison, cytomegalovirus (CMV) using commercially available ELISA kits (Trinity Biotech, USA). Forty-six SSc patients and 38 PAPS patients were enrolled as diseased control groups and sixty-five individuals as healthy controls. Significantly more SLE (54%, P?=?0.001, OR 5.77, 95% CI 2.8?C11.6), SSc (41.3%, P?=?0.005, OR 3.4, 95% CI 1.4?C8.2) and PAPS sera (36.8%, P?=?0.023, OR 2.86, 95% CI 1.14?C7.22) reacted against EA/D than healthy controls (16.9%). The mean age of anti-EA/D-positive SLE patients was significantly higher, and their disease duration was longer compared to anti-EA/D-negative SLE patients (41 ± 14 vs. 33.8 ± 10.8?years, P?<?0.001 and 100 ± 73 vs. 71 ± 62?months, P?=?0.003). In SLE patients, EA/D reactivity was associated with Raynaud??s phenomenon and the presence of any anti-ENA antibodies. Although it did not reach a statistical significance, anti-EBNA-1 reactivity was slightly lower in patients with SLE. The frequency of anti-CMV Ig G positivity was found significantly higher in SLE patients (100%) when compared to patients with SSc (95.7%), PAPS (94.7%) and healthy controls (95.4%) (P?=?0.035, P?=?0.025 and P?=?0.015 respectively). Our results support the proposed link between EBV and SLE. The finding that SSc and PAPS patients also have increased frequency of anti-EA/D response has revealed that this immune interaction may not be unique to patients with SLE, and there may be a common mechanism involving EBV in these autoimmune diseases.     

Comparison of pain threshold,health and functional status of females with fibromyalgia and multiple sclerosis: a pilot study

Objectives. Fibromyalgia (FM) and multiple sclerosis (MS) are known to cause disability and have an impact on physical functioning, social functioning, and emotional well-being of affected individuals. The aim of this study was to compare pressure pain threshold, health and functional status in females with FM and MS who were ambulatory. Methods. Control point scores (CPS), total myalgic scores (TMS; using an algometer), tender point (TP) counts, and chronic widespread pain were assessed in females with FM and MS and in healthy age-matched female controls. The Fibromyalgia Impact Questionnaire (FIQ), and the Nottingham Health Profile were performed. The Kurtzke Expanded Disability Status Scale (EDSS) was used to estimate the disability status of persons with MS. Results. Fibromyalgia patients have significantly lower CPS and TMS than MS patients and controls. Multiple sclerosis patients had similar CPS but significantly lower TMS compared to controls. Tender point counts were significantly higher in FM than MS patients and controls. Patients with MS had a higher numbers of TPs with respect to controls. Chronic widespread pain was reported by only three patients with MS and these patients did not meet FM criteria for tender point counts. Fibromyalgia patients had significantly lower FIQ-first item scores than MS patients. FM patients had higher NHP section scores in pain, social isolation, emotional reaction, sleep and energy, but similar physical mobility compared to MS patients. In MS patients energy and physical mobility dimension of NHP and FIQ-first item scores correlated with EDSS (r=0.42, P=0.047, r=0.83, P=0.001, and r=0.62, P=0.001, respectively). Conclusion. This cross-sectional study warrants further research comparing FM and MS, which share a lot of clinical and psychosocial features or may coexist. Chronic pain and related fatigue, social and emotional reactions and disability seem to be important components in FM, so taking care of these components, in other words a biopsychosocial model, may improve disease outcome and quality of life not only in FM but also in MS.     

Single-step electrochemical deposition of antimicrobial orthopaedic coatings based on a bioactive glass/chitosan/nano-silver composite system

Composite orthopaedic coatings with antibacterial capability containing chitosan, Bioglass® particles (9.8 μm) and silver nanoparticles (Ag-np) were fabricated using a single-step electrophoretic deposition (EPD) technique, and their structural and preliminary in vitro bactericidal and cellular properties were investigated. Stainless steel 316 was used as a standard metallic orthopaedic substrate. The coatings were compared with EPD coatings of chitosan and chitosan/Bioglass®. The ability of chitosan as both a complexing and stabilizing agent was utilized to form uniformly deposited Ag-np. Due to the presence of Bioglass® particles, the coatings were bioactive in terms of forming carbonated hydroxyapatite in simulated body fluid (SBF). Less than 7 wt.% of the incorporated silver was released over the course of 28 days in SBF and the possibility of manipulating the release rate by varying the deposition order of coating layers was shown. The low released concentration of Ag ions (<2.5 ppm) was efficiently antibacterial against Staphyloccocus aureus up to 10 days. Although chitosan and chitosan/Bioglass® coating supported proliferation of MG-63 osteoblast-like cells up to 7 days of culture, chitosan/Bioglass®/Ag-np coatings containing 342 μg of Ag-np showed cytotoxic effects. This was attributed to the relatively high concentration of Ag-np incorporated in the coatings.