Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature.

Hyperphosphatemic familial tumoral calcinosis (HFTC), secondary to fibroblast growth factor 23 (FGF23) gene mutation, is a rare genetic disorder characterized by recurrent calcified masses. We describe young Lebanese cousins presenting with HFTC, based on a retrospective chart review and a prospective case study. In addition, we present a comprehensive review on the topic, based on a literature search conducted in PubMed and Google Scholar, in 2014 and updated in December 2017. While the patients had the same previously reported FGF23 gene mutation (homozygous c.G367T variant in exon 3 leading to a missense mutation), they presented with variable severity and age of disease onset (at 4 years in patient 1 and at 23 years in patient 2). A review of the literature revealed several potential patho-physiologic pathways of HFTC clinical manifestations, some of which may be independent of hyperphosphatemia. Most available treatment options aim at reducing serum phosphate level, by stimulating renal excretion or by inhibiting intestinal absorption. HFTC is a challenging disease. While the available medical treatment has a limited and inconsistent effect on disease symptomatology, surgical resection of calcified masses remains the last resort. Research is needed to determine the safety and efficacy of FGF23 replacement or molecular therapy, targeting the specific genetic aberration. Hyperphosphatemic familial tumoral calcinosis is a rare genetic disorder characterized by recurrent calcified masses, in addition to other visceral, skeletal, and vascular manifestations. It remains a very challenging disease.

ViralORFeome: an integrated database to generate a versatile collection of viral ORFs.

Large collections of protein-encoding open reading frames (ORFs) established in a versatile recombination-based cloning system have been instrumental to study protein functions in high-throughput assays. Such 'ORFeome' resources have been developed for several organisms but in virology, plasmid collections covering a significant fraction of the virosphere are still needed. In this perspective, we present ViralORFeome 1.0 (http://www.viralorfeome.com), an open-access database and management system that provides an integrated set of bioinformatic tools to clone viral ORFs in the Gateway(R) system. ViralORFeome provides a convenient interface to navigate through virus genome sequences, to design ORF-specific cloning primers, to validate the sequence of generated constructs and to browse established collections of virus ORFs. Most importantly, ViralORFeome has been designed to manage all possible variants or mutants of a given ORF so that the cloning procedure can be applied to any emerging virus strain. A subset of plasmid constructs generated with ViralORFeome platform has been tested with success for heterologous protein expression in different expression systems at proteome scale. ViralORFeome should provide our community with a framework to establish a large collection of virus ORF clones, an instrumental resource to determine functions, activities and binding partners of viral proteins.

Normative data and psychometric properties of short form 36 health survey (SF-36, version 1.0) in the population of north Jordan.

This study aimed to assess the psychometric properties of the short form 36 health survey (SF-36, version 1.0) and to establish SF-36 population norms among the general population of north Jordan. A systematic sample of 157 households was selected from 6 districts in Irbid governorate in north Jordan. A total of 511 people aged 18 years or more agreed to participate. The reliability of the instrument using the Arabic version of SF-36 was satisfactory: Cronbacha o alphas for all 8 SF-36 scales exceeded 0.70. All items passed the tests for item internal consistency and item discriminant validity. SF-36 population norms amongthe general population of north Jordan were established. The highest mean was for social functioning (66.8) among men and for physical functioning (69.8) among women. The lowest mean was for vitality (55.8) among men and bodily pain (54.6) among women. The SF-36 is a valid and reliable instrument for measuring quality of life among Jordanians.

Catching and killing of airborne SARS-CoV-2 to control spread of COVID-19 by a heated air disinfection system.

Airborne transmission of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) via air-conditioning systems poses a significant threat for the continued escalation of the current coronavirus disease (COVID-19) pandemic. Considering that SARS-CoV-2 cannot tolerate temperatures above 70 °C, here we designed and fabricated efficient filters based on heated nickel (Ni) foam to catch and kill SARS-CoV-2. Virus test results revealed that 99.8% of the aerosolized SARS-CoV-2 was caught and killed by a single pass through a novel Ni-foam-based filter when heated up to 200 °C. In addition, the same filter was also used to catch and kill 99.9% of Bacillus anthracis, an airborne spore. This study paves the way for preventing transmission of SARS-CoV-2 and other highly infectious airborne agents in closed environments.

Radiologic findings in infected and noninfected scleral buckles.

PURPOSE: To present the radiologic findings in scleral buckle infections and in the early postoperative period after scleral buckling. METHODS: Retrospective multicenter orbital computed tomography (CT) study of 14 patients and brain magnetic resonance (MR) in one patient with scleral buckle infections, some with the referring diagnosis of endophthalmitis, proliferative vitreoretinopathy, orbital cellulitis, or unilateral headache. The control population consisted of early postoperative prospective CT study of 38 consecutive patients with scleral buckle without clinical infection. RESULTS: Diffuse scleral thickening and preseptal soft tissue swelling were noted in acute scleral buckle infections. Scleral thickening decreased radiologically following prompt antibiotic therapy in five patients with acute infections. Silicone sponge had low attenuation without infection and high attenuation with infection. In chronically infected scleral buckle, the sclera was thickened around the buckle, with scleral melt under the buckle. MR showed increased signal intensity in the preseptal region in one patient with chronic fungal infection. In the controls, two had thickening of the sclera without soft tissue swelling. CONCLUSIONS: CT or MR can assist in the early diagnosis and management of scleral buckle infections.

Radioimmunoassay of free thyroxine with prebound anti-T4 microcapsules.

Free thyroxine (FT4) may be one of the active throid hormones in contact with target end organs. It is unaffected by alterations in serum protein levels. In most cases, measurement of FT4 reflects an individual's true thyroid function or dysfunction. Previous FT4 assay techniques have been difficult, tedious, indirect, and inaccurate. A rapid, simple, and accurate radioimmunoassay for FT4 has been developed using microencapsulated rabbit anti-T4 antiserum to which I-125 T4 tracer of high specific activity has been complexed. Addition of FT4 standards or unknown samples displaces a proportional amount of I-125 T4 from antibody. Protein-bound T4 is excluded from the reaction by short incubation time and spatial configurations. Specimens representing known thyroid dysfunction were tested using the above procedure. The normal range of FT4 was 0.8-2.4 ng/dl. The mean FT4 for the hyperthyroid group was 6.92 +/- 1.38 (range 4.4-9.6) ng/dl. The mean FT4 for the hypothyroid group was 0.43 +/- 0.37 (range 0.1-1.3) ng/dl, and in pregnancy the mean FT4 was 1.64 +/- 0.44 (range of 1.0-2.2) ng/dl (1).

The role of nuclear scanning in the evaluation of arterial injuries.

Nuclear scanning appears to be a useful test to screen patients with penetrating injuries to the extremities who have proximity as the only finding suggestive of vascular injury. Patients with abnormal scans should be further studied with standard angiography. Interpretation of the scan is dependent on the reader's experience.

Cancer screening for the primary care physician.

Cancer screening guidelines are developed by numerous agencies. These guidelines are often conflicting leaving the primary care physician in a difficult position. He (she) is requested to choose the best test for his or her patients taking into consideration the principles of screening, the test cost and most importantly the patient's emotional and physical well-being. Screening for some cancers, like lung cancer, has been considered of no benefit. Other cancers, like breast, colon, cervix and prostate, have been the subject of numerous recommendations: For breast cancer, clinical examination and mammography are recommended every 1-2 years for women between 50 to 70 years. For cervical cancer, PAP smear is suggested every 1-3 years and for colorectal cancer, a yearly fecal occult blood, sigmoidoscopy or colonoscopy every 5-10 years. Annual serum prostate specific antigen (PSA) and digital rectal examination screening for prostate cancer are still controversial.

MR imaging findings in autosomal recessive hereditary spastic paraplegia.

BACKGROUND AND PURPOSE: Hereditary spastic paraplegia (HSP) is a disorder characterized by degeneration of the corticospinal tracts and posterior column of the spinal cord. Previously described radiologic findings included nonspecific brain abnormalities such as brain atrophy and white matter lesions, as well as atrophy of the spinal cord. In our study, we aimed to better characterize brain and spine MR imaging findings in a series of patients with HSP. MATERIALS AND METHODS: Nine patients from 4 different Lebanese families with the autosomal recessive form of HSP were included in the study. All patients underwent brain and whole-spine MR imaging. We assessed the presence of white matter abnormalities mainly along the corticospinal tracts, brain atrophy, thinning of the corpus callosum, and the presence of spinal cord atrophy or abnormal signal intensity. RESULTS: Imaging revealed mild brain atrophy (44%), atrophy of the corpus callosum (55%), white matter lesions (67%), abnormal T2 high signal intensity in the posterior limb of the internal capsule (55%), and mild spinal cord atrophy (33%). CONCLUSIONS: The MR imaging findings of HSP are nonspecific and variable; however, the most prominent features include atrophy of the corpus callosum, T2 signal intensity in the posterior limb of the internal capsule, and spinal cord atrophy.

L-asparaginase-induced posterior reversible encephalopathy syndrome during acute lymphoblastic leukemia treatment in children.

L-asparaginase is a critical component in the treatment of acute lymphoblastic leukemia in children. It is known to cause coagulation abnormalities, thrombosis and hemorrhage in the central nervous system in addition to vasculitis and hypersensitivity reactions. The purpose of this article is to present the first case-series of posterior reversible encephalopathy syndrome (PRES) associated with L-asparaginase treatment. We report 3 cases of children with acute lymphoblastic leukemia who developed seizures and altered sensorium after L-asparaginase therapy. MRI showed increased T(2) signal intensity predominant in the posterior regions of the brain suggestive of PRES. Two of our patients developed septic shock and deteriorated whereas one patient improved and recovered completely.

Asymptomatic Mycobacterium xenopi lung abscess in an immunocompetent male without pre-existing lung pathology.

Like other non-tuberculous mycobacteria, Mycobacterium xenopi infects more commonly patients with altered immune defenses. In immunocompetent individuals, infection with M. xenopi has been described in the setting of underlying lung disease. We here report the first case of M. xenopi lung abscess in a previously healthy patient with no known predisposing factors who was successfully treated with rifampin, isoniazid and ethambutol.

Atypical MRI findings in Kearns-Sayre syndrome: T2 radial stripes.

Kearns-Sayre syndrome (KSS) is a mitochondrial disorder consisting of external ophthalmoplegia, retinitis pigmentosa, ataxia and heart block. Magnetic resonance imaging (MRI) shows abnormal T2 high signal intensity in the deep gray matter nuclei, the cerebellar and the subcortical white matter. We report an unusual MR pattern of KSS, where the T2 images revealed radially oriented, hypointense stripes in hyperintense white matter, a characteristic MRI pattern of lysosomal disease not previously reported in KSS.

Tibial and fibular developmental fields defects.

Malformations of the lower limbs are rare and heterogeneous anomalies. To explain the diversity and complexity of these abnormalities, authors introduced the concept of tibial and fibular developmental fields. Defects in these fields are responsible for different malformations, which have been described, to our knowledge, in only one report in the radiology literature. We present a case of a newborn with femoral bifurcation, absent fibulae and talar bones, ankle and foot malformations, and associated atrial septal defect. Our case is an example of defects in both fibular and tibial developmental fields.

Parathyroid hormone-mediated aluminum deposition and egress in the rat.

Exogenous PTH significantly enhances tissue aluminum concentration in normal rats fed an aluminum-supplemented diet. In this study, we examined the effect of PTH withdrawal on brain and whole carcass aluminum concentrations. Four groups of rats were fed an aluminum diet while receiving injections of PTH for 5 days. On day 5, one group of rats was sacrificed, and the treatment regimen of the remaining groups altered. PTH, the aluminum diet, or PTH and the aluminum diet were withdrawn respectively for an additional 5 days. An additional group of rats was fed the aluminum diet for 10 days. PTH dramatically increased the concentration of aluminum in both brain and carcass above that found in tissues of rats given aluminum alone. Brain and whole carcass aluminum concentrations remained elevated in rats continued on PTH even in the absence of continued supplemental dietary aluminum. In contrast, following PTH withdrawal, brain and whole carcass aluminum concentrations were significantly lower and independent of dietary aluminum. Thus, PTH may be an important mediator of specific tissue aluminum burdens.

Use of limited MR protocol (coronal STIR) in the evaluation of patients with hip pain.

OBJECTIVE: To assess the role of a limited MR protocol (coronal STIR) as the initial part of the MR examination in patients with hip pain. DESIGN AND PATIENTS: Eighty-five patients presenting with hip pain, and normal radiographs of the pelvis, and who underwent our full MR protocol for hips were included retrospectively in the study. The full protocol consists of coronal T1-weighted and short tau inversion-recovery (STIR), and axial T2-weighted sequences. Ninety-three MR examinations were performed. Two radiologists interpreted the STIR (limited) examinations and the full studies separately, masked to each other's findings and to the final diagnosis. Comparison between the two protocols was then undertaken. RESULTS: For both readers, all normal MR examinations on the coronal STIR limited protocol were normal on the full protocol, with an interobserver reliability of 0.96. The STIR protocol was able to detect the presence or absence of an abnormality in 100% of cases (sensitivity). The STIR-only protocol provided a specific diagnosis in only 65% of cases (specificity). CONCLUSION: A normal coronal STIR study of the hips in patients with hip pain and normal radiographs precludes the need for further pelvic MR sequences. Any abnormality detected on this limited protocol should be further assessed by additional MR sequences.

Prevalence of hepatitis B in 27 Michigan hemodialysis centers.

A large epidemiological survey of inhospital chronic hemodialysis patients was conducted in 27 (93%) of the 29 dialysis centers in Michigan. Serum was collected from 699 patients on chronic maintenance hemodialysis for periods from one month to eight years. Hepatitis B surface antigen (HBsAg) was determined in all patients by radioimmunoassay and positive samples were confirmed by specific neutralization. Antibody against HBsAg (anti-HBs) was determined by radioimmunoassay in 110 HBsAg negative patients from six dialysis units with a high prevalence of hepatitis B. HBsAg was detected in 80 (11.4%) patients distributed among 21 (78%) of 27 dialysis units and anti-HBs in 34 (31%) patients from the selected dialysis units. The prevalence of HBsAg was related to duration of dialysis, number of blood transfusions, and to a history of bilateral nephrectomy, but not to age, sex, race, nor the underlying renal disease. Twenty-one (26%) of the 80 HBsAg positive patients had not been previously identified by the clinical laboratories of their institutions. Since preventive measures were not taken in the care of these inapparent carriers of HBsAg, they represent an unrecognized risk.

The role of hepatobiliary scintigraphy in differentiating acute cholecystitis from acute nonbiliary pancreatitis.

Thirty-five patients with acute nonbiliary pancreatitis were studied with 99m-Technetium para isoproply iminodiacetic acid in order to determine its ability to differentiate acute nonbiliary pancreatitis from acute cholecystitis. Of acute nonbiliary pancreatitis patients 90.3% (28/31) visualized their gallbladder in 1 h, 9.7% (3/31) had delayed visualization of gallbladder, and no patient in this category failed to visualize their gallbladder. Two of four patients with acute episodes of pancreatitis superimposed on chronic pancreatitis visualized their gallbladder. Biliary scintigraphy remains to be a valuable tool in differentiating acute nonbiliary pancreatitis from acute cholecystitis.