Are physical measures good indicators of clinical image quality at low dose levels? A pilot study

Background - For dose reduction actions, the principle of “image quality as good as possible” to “image quality as good as needed” requires to know whether the physical measures and visual image quality relate. Visual evaluation and objective physical measures of image quality can appear to be different. If there is no noticeable effect on the visual image quality with a low dose but there is a objective physical measure impact, then the overall dose may be reduced without compromising the diagnostic image quality. Low dose imaging can be used for certain types of observations, e.g. thoracic scoliosis, control after metal implantation for osteosynthesis, reviewing pneumonia and tuberculosis. Aim of the study - To determine whether physical measures of noise predict visual (clinical) image quality at low dose levels.

Visual results with the use of prismatic lenses in the treatment of congenital nystagmus: a clinical case

Purpose: It is important to establish a differential diagnosis between the different types of nystagmus, in order to give the appropriate clinical approach to every situation and to improve visual acuity. The nystagmus is normally blocked when the eyes are positioned in a particular way. This makes the child adopt a posture of ocular torticollis that reduces the nistagmiformes movements, improving the vision in this position. A way to promote the blocking of the nystagmic movements is by using prismatic lenses with opposite bases, to block or minimize the oscillatory movements. This results in a vision improvement and it reduces the anomalous head position. There is limited research on the visual results in children with nystagmus after using prisms with opposing bases. Our aim is to describe the impact on the visual acuity (VA ) of theprescription prism lenses in a nystagmus patient starting at 3 months of age. Methods: Case report on thirty month old caucasian male infant, with normal growth and development for their age, with an early onset of horizontal nystagmus at 3 months of age. Ophthalmic examination included slit lamp examination, fundus, refractive study, electrophysiological and magnetic resonance tests, measurement of VA over time with the Teller Acuity Cards (TAC ) in the distance agreed for the age. At age ten months, the mother noted a persistent turn to the right of the child’s head, which became increasingly more severe along the months. There’s no oscillopcia. At 24 months, an atropine refraction showed the following refractive error: 0D.: -1,50, OS: -0,50 and prismatic lens adapting OD 8 Δ nasal base and OE 8 Δ temporal base. Results: Thirty month old child, with adequate development for their age, with onset of idiopatic horizontal nystagmus, at 3 months of age. Normal ocular fundus and magnetic ressoance without alterations, sub-normal results in electrophysiological tests and VA with values below normal for age. At 6 months OD 20/300; OE 20/400; OU 20/300. At 9 months OD 20/250; OE 20/300; OU 20/150 (TAC a 38 cm). At 18 months OD 20/200; OE 20/100; OU 20/80 (TAC at 38 cm), when the head is turned to the right and the eyes in levoversão, the nystagmus decreases in a “neutral” area. At 24 month, with the prismatic glasses, OD 20/200 OE 20/100, OU20/80 (TAC at 54 cm, reference value is 20/30 – 20/100 para OU e 20/40 – 20/100 monocular), there was an increase in the visual acuity. The child did visual stimulation with multimedia devices and using glasses. After adaptation of prisms: at 30 months VA (with Cambridge cards) OD e OE = 6/18. The child improved the VA and reduced the anomalous head position. There is also improvement in mobility and fine motricity. Conclusion: Prisms with opposing bases., were used in the treatment of idiopathic nystagmus. Said prisms were adapted to reduce the skewed position of the head, and to improve VA and binocular function. Monitoring of visual acuity and visual stimulation was done using electronic devices. Following the use of prismatic, the patient improved significantly VA and the anomalous head position was reduced.

Multicentric Genome-Wide Association Study for Primary Spontaneous Pneumothorax

Despite elevated incidence and recurrence rates for Primary Spontaneous Pneumothorax (PSP), little is known about its etiology, and the genetics of idiopathic PSP remains unexplored. To identify genetic variants contributing to sporadic PSP risk, we conducted the first PSP genome-wide association study. Two replicate pools of 92 Portuguese PSP cases and of 129 age- and sex-matched controls were allelotyped in triplicate on the Affymetrix Human SNP Array 6.0 arrays. Markers passing quality control were ranked by relative allele score difference between cases and controls (|RASdiff|), by a novel cluster method and by a combined Z-test. 101 single nucleotide polymorphisms (SNPs) were selected using these three approaches for technical validation by individual genotyping in the discovery dataset. 87 out of 94 successfully tested SNPs were nominally associated in the discovery dataset. Replication of the 87 technically validated SNPs was then carried out in an independent replication dataset of 100 Portuguese cases and 425 controls. The intergenic rs4733649 SNP in chromosome 8 (between LINC00824 and LINC00977) was associated with PSP in the discovery (P = 4.07E-03, ORC[95% CI] = 1.88[1.22-2.89]), replication (P = 1.50E-02, ORC[95% CI] = 1.50[1.08-2.09]) and combined datasets (P = 8.61E-05, ORC[95% CI] = 1.65[1.29-2.13]). This study identified for the first time one genetic risk factor for sporadic PSP, but future studies are warranted to further confirm this finding in other populations and uncover its functional role in PSP pathogenesis.

Immune-Mediated Necrotizing Myopathy: An Often Misdiagnosed Entity

Immune-mediated necrotizing myopathies (IMNM) are recognized as a subgroup of idiopathic inflammatory myopathies (IIM). IMNM are defined based on a combination of clinical presentation and laboratory studies, requiring a specific myopathological pattern on muscle biopsy for diagnosis. The authors describe a case of a patient with necrotizing myopathy, thought to be immune mediated, highlighting the challenge of its differential diagnosis. As clinical assessment and diagnostic tools sometimes fail to determine whether a necrotizing myopathy is immune mediated, leading to misdiagnosis and a compromise of the optimal therapeutic approach, distinguishing between IMNM and other myopathies is crucial.

Cardiac magnetic resonance imaging in the diagnosis and determination of outcome of pulmonary hypertension

Pulmonary hypertension (PH) is a rare but serious condition that causes progressive right ventricular (RV) failure and death. PH may be idiopathic, associated with underlying connective-tissue disease or hypoxic lung disease, and is also increasingly being observed in the setting of heart failure with preserved ejection fraction (HFpEF). The management of PH has been revolutionised by the recent development of new disease-targeted therapies which are beneficial in pulmonary arterial hypertension (PAH), but can be potentially harmful in PH due to left heart disease, so accurate diagnosis and classification of patients is essential. These PAH therapies improve exercise capacity and pulmonary haemodynamics, but their overall effect on the right ventricle remains unclear. Current practice in the UK is to assess treatment response with 6-minute walk test and NYHA functional class, neither of which truly reflects RV function. Cardiac magnetic resonance (CMR) imaging has been established as the gold standard for the evaluation of right ventricular structure and function, but it also allows a non-invasive and accurate study of the left heart. The aims of this thesis were to investigate the use of CMR in the diagnosis of PH, in the assessment of treatment response, and in predicting survival in idiopathic and connective-tissue disease associated PAH. In Chapter 3, a left atrial volume (LAV) threshold of 43 ml/m2 measured with CMR was able to distinguish idiopathic PAH from PH due to HFpEF (sensitivity 97%, specificity 100%). In Chapter 4, disease-targeted PAH therapy resulted in significant improvements in RV and left ventricular ejection fraction (p<0.001 and p=0.0007, respectively), RV stroke volume index (p<0.0001), and left ventricular end-diastolic volume index (p=0.0015). These corresponded to observed improvements in functional class and exercise capacity, although correlation coefficients between Δ 6MWD and Δ RVEF or Δ LVEDV were low. Finally, in Chapter 5, one-year and three-year survival was worse in CTD-PAH (75% and 53%) than in IPAH (83% and 74%), despite similar baseline clinical characteristics, lung function, pulmonary haemodynamics and treatment. Baseline right ventricular stroke volume index was an independent predictor of survival in both conditions. The presence of LV systolic dysfunction was of prognostic significance in CTD-PAH but not IPAH, and a higher LAV was observed in CTD-PAH suggesting a potential contribution from LV diastolic dysfunction in this group.

Anti-Signal Recognition Particle Myopathy in a Geriatric Patient

Anti-signal recognition particle (SRP) myopathy is a rare idiopathic inflammatory myositis that usually affects middle-age women, and is characterized by rapidly progressive proximal and symmetrical muscle weakness, elevated creatine kinase levels, severe necrotizing immune-mediated myopathy, presence of anti-SRP autoantibodies and poor response to steroid therapy. We report a geriatric case of a previously independent patient, presenting with slow onset of proximal paraparesis, myalgia and severe gait impairment. The patient was treated with steroid and azathioprine, with laboratory and pain response but modest muscle strength improvement. The clinical presentation of this unusual patient was atypical, which hampered the correct diagnosis.

Isolated Aortitis Presenting with an Annoying Persistent Cough: A Case Report

Objectives: To report a case of idiopathic aortitis presenting with chronic cough. Materials and Methods: the Authors describe the case of a 72-year-old man with dry cough, worsening fatigue, weight loss and elevated systemic inflammatory markers. Results: A PET-CT scan showed diffuse thickening of the thoracic aorta and confirmed the diagnosis of aortitis. Systemic corticosteroid therapy was initiated and complete remission was achieved in six months. Conclusion: Persistent dry cough of unknown origin, especially when associated with systemic inflammation, demands a thorough differential diagnosis and should not be underrated.

Sweet syndrome presenting late after non Hodgkin’s lymphoma and dermatomyositis

Abstract Sweet syndrome is a rare neutrophilic dermatosis consisting in the onset of high fever, neutrophilia, and typical painful skin lesions including erythematous papules, nodules, and plaques on the face, trunk, and extremities, with a bilateral and asymmetrical pattern. Sweet syndrome is classiied as idiopathic, predominating in women; malignancy-associated, mainly with hematological cancer, and drug-induced. The diagnosis is based on clinical history and skin manifestations, being conirmed by a complete blood count showing neutrophilic leukocytosis, and speciic indings in the skin biopsy. We report the case of a 68 year-old man with a 10-year evolution of dermatomyositis complicated by lung ibrosis, followed 8 years later by non-Hodgkin lymphoma (NHL) accompanied by worsening of his ibrosis. Two years after the successful treatment of NHL the patient developed an acute episode of severe dyspnea, multiple skin lesions, and 95% neutrophilia. At that time the patient had a severe lung function impairment complicated by nosocomial pneumonia that led to his death, a few days after the diagnosis of Sweet syndrome was established by histopathology examination. Sweet syndrome is a rare dermatologic entity that can appear several years after diseases characterized by immune dysfunction such as dermatomyositis and NHL.

Pediatric Intussusception in Northern Iran: Comparison of Recurrent With Non-Recurrent Cases

Background: Intussusception represents as the invagination of a part of the intestine into itself and is the most common cause of intestinal obstruction in infants and children between 6 months to 3-years-old. Objectives: The objective of this study was to determine the recurrence rate and predisposing factors of recurrent intussusception. Patients and Methods: The medical records of children aged less than 13-years-old with confirmed intussusception who underwent reduction at a tertiary academic care in northern Iran (Mazandran), from 2001 to 2013 were reviewed. Data were extracted and recurrence rate was determined. The two groups were compared by chi square, Fisher, Mann-Whitney and t-test. Diagnosed cases of intussusception consisted of 237 children. Results: Average age of the patients was 19.57 ± 19.43 months with a peak of 3 to 30 months. Male to female ratio was 1.65 and this increased by aging. Recurrence rate was 16% (38 cases). 87 (36.7%) underwent surgery. These were mainly children under one year old. In 71% (40) of episodes recurrence occurred 1 to 7 times within 6 months. The recurrence occurred in 29 (23.5%) children in whom a first reduction was achieved with barium enema (BE) and 5 (5.7%) children who had an operative reduction (P < 0.001) in the first episode. Pathological leading points (PLPs) were observed in 5 cases; 2.6% in recurrence group versus 2% in non-recurrence group (P = 0.91). Three patients had intestinal polyp, 2 patient’s lymphoma and Mackle’s diverticulum. Age (P = 0.77) and sex (P = 0.38) showed no difference between the two groups. PLPs were observed in 1.4% of children aged 3 months to 5 years. This was 13.3%, in older children (P = 0.02). Conclusions: The recurrence of intussusception was related to the method of treatment in the first episode and it was 5-fold higher in children with BE than in operative reduction. Recurrent intussusceptions were not associated with PLPs, they were more idiopathic.

Small clonal B-cell population in the bone marrow as a possible tool in the diagnosis of occult primary parotid lymphoma

Case Description: An 82-years old Hispanic woman with a past medical history significant for pulmonary thromboembolism on oral anticoagulation, rheumatoid arthritis, and hypertension developed a new onset thrombocytopenia. Clinical Findings: Small clonal B-cells populations (SCBP) also known as monoclonal B-cell lymphocytosis was found as part of the workup for an idiopathic thrombocytopenia and lead ultimately to the diagnosis of parotid primary follicular lymphoma coexisting with Warthin tumor involving the bone marrow in a small extent and oncocytic papilloma located in the maxillary sinus. Treatment and Outcome: Patient was treated with Rituximab monotherapy with improvement on her platelet count. Clinical relevance: Although it is unclear the role of this clonal cells, they may work as a possible diagnostic tool for occult lymphomas. Further prospective studies are needed to confirm this possible association.

Perinatal complications associated with preterm deliveries at 24 to 33 weeks and 6 days gestation (2011- 2012): A hospital-based retrospective study

Background: Morbidity and mortality of preterm babies are important issues in perinatal medicine. In developed countries, preterm delivery is the cause of about 70% of mortality and 75% of morbidity in the neonatal period, respectively. Objective: The aim of this study was to determine the risk factors for preterm labor and the outcomes, in terms of perinatal mortality and morbidity at the time of discharge home, among preterm infants at less than 34 weeks gestation. Materials and Methods: A retrospective study was conducted and all infants with a gestational age of 24 to 33 weeks and 6 days who were born from November 1st , 2011 to March 31, 2012 were enrolled in this study. Results: From 1185 preterm infants were born during this period, 475 (40.08%) infants with less than 34 weeks gestational age were included in the study. Our study showed the major obstetrical risk factors for preterm labor were as follows: preeclampsia (21%), premature rupture of membranes (20.3%), abruption of placenta (10%), and idiopathic cases (48.7%). The neonatal mortality rate in less than 34 weeks was 9.05%. Significant perinatal morbidity causesd in less than 34 weeks were as follows: sepsis (46.94%), respiratory distress syndrome (41.47%), patent ductus arteriosus (21.47%), retinopathy of prematurity (3.57%), necrotizing entrocolitis (1.68%), intra-ventricular hemorrhage (9%), and broncho-pulmonary dysplasia (0.84%). Conclusion: Preterm birth is associated with adverse perinatal outcome. This situation needs to be improved by directing appropriately increased resources for improving prenatal health services and providing advanced neonatal care.

Association of kinase insert domain-containing receptor (KDR) gene polymorphism/ haplotypes with recurrent spontaneous abortion and genetic structure

Background: Recurrent spontaneous abortion is one of the diseases that can lead to physical, psychological, and, economical problems for both individuals and society. Recently a few numbers of genetic polymorphisms in kinase insert domain-containing receptor (KDR) gene are examined that can endanger the life of the fetus in pregnant women. Objective: The risk of KDR gene polymorphisms was investigated in Iranian women with idiopathic recurrent spontaneous abortion (RSA). Materials and Methods: A case controlled study was performed. One hundred idiopathic recurrent spontaneous abortion patients with at least two consecutive pregnancy losses before 20 weeks of gestational age with normal karyotypes were included in the study. Also, 100 healthy women with at least one natural pregnancy were studied as control group. Two functional SNPs located in KDR gene; rs1870377 (Q472H), and rs2305948 (V297I) as well as one tag SNP in the intron region (rs6838752) were genotyped by using PCR based restriction fragment length polymorphism (PCR-RFLP) technique. Haplotype frequency was determined for these three SNPs’ genotypes. Analysis of genetic STRUCTURE and K means clustering were performed to study genetic variation. Results: Functional SNP (rs1870377) was highly linked to tag SNP (rs6838752) (D´ value=0. 214; χ2 = 16.44, p<0. 001). K means clustering showed that k = 8 as the best fit for the optimal number of genetic subgroups in our studied materials. This result was in agreement with Neighbor Joining cluster analysis. Conclusion: In our study, the allele and genotype frequencies were not associated with RSA between patient and control individuals. Inconsistent results in different populations with different allele frequencies among RSA patients and controls may be due to ethnic variation and used sample size.

Serum levels of lycopene, beta-carotene, and retinol and their correlation with sperm DNA damage in normospermic and infertile men

Background: Oxidative stress in reproductive system leads to sperm DNA damage and sperm membrane lipid peroxidation and may play an important role in the pathogenesis of male infertility, especially in idiopathic cases. Antioxidants such as carotenoids function against free radical damages. Objective: The aim of this study was to determine the levels of lycopene, beta-carotene and retinol in serum and their relationship with sperm DNA damage and lipid peroxidation in infertile and normospermic males. Materials and Methods: Sixty two infertile men and 71 normospermic men participated in this study. Blood and semen samples were collected from all subjects. Sperm DNA damage was measured using TUNEL method. Carotenoids, retinol, and malonedildehyde in serum were also determined. Results: DNA fragmentation was higher in infertile group comparing to control group. Serum levels of lycopene, beta-carotene and, vitamin A in infertile men were significantly lower than normospermic men (p< 0.001, =0.005, and =0.003 respectively). While serum MDA was not significantly different between two groups, MDA in seminal plasma of infertile men was significantly higher than control group (p< 0.001). Conclusion: We concluded that lycopene, beta-carotene, and retinol can reduce sperm DNA fragmentation and lipid peroxidation through their antioxidant effect. Therefore the DNA fragmentation assay and determination of antioxidants factors such as lycopene, beta-carotene and retinol, along with sperm analysis can be useful in diagnosis and treatment of men with idiopathic infertility.

Étude de l’impact de la prise de médicaments dans le traitement de l’arthrite juvénile sur les événements néfastes à l’accouchement chez la mère et son bébé

La plupart des femmes ayant été atteintes d’arthrite juvénile idiopathique (AJI) continuent de souffrir d’arthrite à l’âge adulte. Certains des médicaments utilisés dans le traitement de l’arthrite tels que les corticostéroïdes et les antiinflammatoires non stéroïdiens (AINS) ne sont pas recommandés durant la grossesse. Le but de ce mémoire est d’estimer l’impact de la prise de ces médicaments sur les événements néfastes à l’accouchement chez ces femmes et leur bébé. Des données administratives sur les prescriptions de médicaments et les hospitalisations d’une cohorte de 1756 femmes ayant souffert d’AJI sont utilisées. Elles ont permis de reconstruire l’historique de consommation de médicaments contre l’arthrite chez les femmes durant la grossesse et l’année précédente. Pour ce faire, deux sous-cohortes de femmes ayant souffert d’AJI ont été formées : une pour la période grossesse et une autre pour la grossesse et l’année précédant celle-ci. Les événements d’intérêt étaient : malformations congénitales, complications néonatales, complications maternelles et petit poids pour l’âge gestationnel. Les proportions de cas présentant l’un de ces événements variaient entre 11,52% et 37,08%. Les médicaments ont été modélisés en terme d’utilisation ou de durée totale de consommation durant la période d’étude. Pour chaque événement, des modèles logistiques ont été estimés pour mesurer l’association entre la prise de médicaments et l’événement, en ajustant pour des variables de confusion potentielles : hypertension avant la grossesse, âge à l’accouchement et obtention du diplôme de secondaire. La consommation de corticostéroïdes semble augmenter statistiquement significativement le risque de présenter des malformations congénitales mais n’avoir aucun impact sur les autres événements. Aucun lien statistiquement significatif n’a été observé entre la consommation de AINS et les événements d’intérêt.