[18F]FE-PE2I PET is a feasible alternative to [123I]FP-CIT SPECT for dopamine transporter imaging in clinically uncertain parkinsonism.

BACKGROUND: Dopamine transporter (DAT) imaging of striatum is clinically used in Parkinson's disease (PD) and neurodegenerative parkinsonian syndromes (PS) especially in the early disease stages. The aim of the present study was to evaluate the diagnostic performance of the recently developed tracer for DAT imaging [18F]FE-PE2I PET/CT to the reference standard [123I]FP-CIT SPECT. METHODS: Ninety-eight unselected patients referred for DAT imaging were included prospectively and consecutively and evaluated with [18F]FE-PE2I PET/CT and [123I]FP-CIT SPECT on two separate days. PET and SPECT scans were categorized independently by two blinded expert readers as either normal, vascular changes, or mixed. Semiquantitative values were obtained for each modality and compared regarding effect size using Glass' delta. RESULTS: Fifty-six of the [123I]FP-CIT SPECT scans were considered abnormal (52 caused by PS, 4 by infarctions). Using [18F]FE-PE2I PET/CT, 95 of the 98 patients were categorized identically to SPECT as PS or non-PS with a sensitivity of 0.94 [0.84-0.99] and a specificity of 1.00 [0.92-1.00]. Inter-reader agreement for [18F]FE-PE2I PET with a kappa of 0.97 [0.89-1.00] was comparable to the agreement for [123I]FP-CIT SPECT of 0.96 [0.76-1.00]. Semiquantitative values for short 10-min reconstructions of [18F]FE-PE2I PET/CT were comparable to longer reconstructions. The effect size for putamen/caudate nucleus ratio was significantly increased using PET compared to SPECT. CONCLUSIONS: The high correspondence of [18F]FE-PE2I PET compared to reference standard [123I]FP-CIT SPECT establishes [18F]FE-PE2I PET as a feasible PET tracer for clinical use with favourable scan logistics.

Prognostic usefulness of planar 123I-MIBG scintigraphic images of myocardial sympathetic innervation in congestive heart failure: Follow-Up data from ADMIRE-HF.

BACKGROUND: To evaluate whether planar 123I-MIBG myocardial scintigraphy predicts risk of death in heart failure (HF) patients up to 5 years after imaging. METHODS AND RESULTS: Subjects from ADMIRE-HF were followed for approximately 5 years after imaging (964 subjects, median follow-up 62.7 months). Subjects were stratified according to the heart/mediastinum (H/M) ratio (< 1.60 vs ≥ 1.60) on planar 123I-MIBG scintigraphic images obtained at baseline in ADMIRE-HF. Cox proportional hazards models and Kaplan-Meier analyses were used to evaluate time to death, cardiac death, or arrhythmic events for subjects stratified by H/M ratio, baseline left ventricular ejection fraction (LVEF: < 25% and 25 to ≤ 35%), and by H/M strata within LVEF strata. All-cause mortality was 38.4% vs 20.9% and cardiac mortality was 16.8% vs 4.5%, in subjects with H/M < 1.60 vs ≥ 1.60, respectively (P < 0.05 for both comparisons). Subjects with preserved sympathetic innervation of the myocardium (H/M ≥ 1.60) were at significantly lower risk of all-cause and cardiac death, arrhythmic events, sudden cardiac death, or potentially life-threatening arrhythmias. Within LVEF strata, a trend toward a higher mortality for subjects with H/M < 1.60 was observed reaching significance for LVEF 25 to ≤ 35% only. CONCLUSIONS: During a median follow-up of 62.7 months, patients with H/M ≥ 1.60 were at significantly lower risk of death and arrhythmic events independently of LVEF values.

The role of 18F-FDG PET/CT in the diagnosis of frozen shoulder.

PURPOSE: Frozen shoulder is characterized by pain and reduced passive movement capability, and the diagnose is made clinically. However, pain is the major symptom in the first stage before stiffness occurs, and the condition can be mistaken for subacromial impingement. This study explored the possibility to use positron emission tomography/computed tomography (PET/CT) with a 18F Flour-Deoxy-Glucose (FDG) tracer in the diagnostic process. METHODS: Eleven patients with frozen shoulder and 9 patients with subacromial impingement received a 18F-FDG PET/CT scan before being treated surgically. During arthroscopy, the diagnoses were confirmed. Images were blindly analyzed visually by two nuclear medicine physicians. Also, semi-quantified analysis applying a set of standard regions was performed, and standard uptake value in both shoulder regions was recorded. RESULTS: Both the visual description of the pictures and the semi-quantified analysis generally showed increased FDG uptake in the affected shoulder regions of patients that had frozen shoulder and no uptake in patients with subacromial impingement. Kappa for interobserver agreement in the visual assessments was 0.74. Sensitivity was 92% and specificity 93% of the visual assessment, 77% and 93%, respectively, of the semi-quantified analyses, and by combining the two types of analyses sensitivity was 100% and specificity was 93% for the distinction between frozen shoulders and subacromial impingement/unaffected shoulders. CONCLUSION: 18F-FDG PET/CT seems to be a valid method to diagnose frozen shoulder. This is clinically relevant in diagnostically challenging cases, for instance in the first phase of frozen shoulder, which can be difficult to distinguish from subacromial impingement. LEVEL OF EVIDENCE: II.

Long-Term Effectiveness of Antireflux Surgery in Esophageal Atresia Patients.

INTRODUCTION: Gastroesophageal reflux disease (GERD) is a common morbidity after esophageal atresia (EA) repair, and the antireflux procedure (ARP) is a way of treating GERD symptoms. The aim of this study was to evaluate whether reflux index (Ri) and growth were improved by ARP. MATERIALS AND METHODS: Ninety-nine individuals with EA treated at the Queen Silvia Children's Hospital in Gothenburg, Sweden, between 1997 and 2010 were followed prospectively according to a structured care program. Twenty-four-hour pH-metry (Ri) and growth were studied at birth, then at 1, 7, and 15 years of age. All the patients included had reached 7 years of age. RESULTS: Preoperatively, Ri was significantly higher (32%) in the ARP than the non-ARP group (10%). Postoperatively, no difference was seen between the groups. However, at 7 and 15 years of age, Ri was significantly higher in the ARP group than in the non-ARP group. Weight (standard deviation scores) was significantly lower in the ARP group at 1 and 7 years of age when compared with the non-ARP group, but these differences were not seen at birth and at 15 years of age. In a multivariate analysis, only birth weight remained a significant factor for low weight at 7 years of age. At 15 years of age, no risk factors for low body weight were found. CONCLUSION: In the long term, ARP is not effective in reducing GERD as measured as Ri in EA patients. The ARP group had significantly lower weight at 1 and 7 years of age than the non-ARP group, but this was not the case at the age of 15.

Extrastriatal dopamine D2/3 receptors and cortical grey matter volumes in antipsychotic-naïve schizophrenia patients before and after initial antipsychotic treatment.

OBJECTIVES: Long-term dopamine D2/3 receptor blockade, common to all antipsychotics, may underlie progressive brain volume changes observed in patients with chronic schizophrenia. In the present study, we examined associations between cortical volume changes and extrastriatal dopamine D2/3 receptor binding potentials (BPND) in first-episode schizophrenia patents at baseline and after antipsychotic treatment. METHODS: Twenty-two initially antipsychotic-naïve patients underwent magnetic resonance imaging (MRI), [123I]epidepride single-photon emission computerised tomography (SPECT), and psychopathology assessments before and after 3 months of treatment with either risperidone (N = 13) or zuclopenthixol (N = 9). Twenty healthy controls matched on age, gender and parental socioeconomic status underwent baseline MRI and SPECT. RESULTS: Neither extrastriatal D2/3 receptor BPND at baseline, nor blockade at follow-up, was related to regional cortical volume changes. In post-hoc analyses excluding three patients with cannabis use we found that higher D2/3 receptor occupancy was significantly associated with an increase in right frontal grey matter volume. CONCLUSIONS: The present data do not support an association between extrastriatal D2/3 receptor blockade and extrastriatal grey matter loss in the early phases of schizophrenia. Although inconclusive, our exclusion of patients tested positive for cannabis use speaks to keeping attention to potential confounding factors in imaging studies.

Increased Motor Activity During REM Sleep Is Linked with Dopamine Function in Idiopathic REM Sleep Behavior Disorder and Parkinson Disease.

STUDY OBJECTIVES: Rapid eye movement (REM) sleep behavior disorder (RBD) is a parasomnia characterized by impaired motor inhibition during REM sleep, and dream-enacting behavior. RBD is especially associated with α-synucleinopathies, such as Parkinson disease (PD). Follow-up studies have shown that patients with idiopathic RBD (iRBD) have an increased risk of developing an α-synucleinopathy in later life. Although abundant studies have shown that degeneration of the nigrostriatal dopaminergic system is associated with daytime motor function in Parkinson disease, only few studies have investigated the relation between this system and electromyographic (EMG) activity during sleep. The objective of this study was to investigate the relationship between the nigrostriatal dopamine system and muscle activity during sleep in iRBD and PD. METHODS: 10 iRBD patients, 10 PD patients with PD, 10 PD patients without RBD, and 10 healthy controls were included and assessed with (123)I-N-omega-fluoropropyl-2-beta-carboxymethoxy-3beta-(4-iodophenyl) nortropane ((123)I-FP-CIT) Single-photon emission computed tomography (SPECT) scanning ((123)I-FP-CIT SPECT), neurological examination, and polysomnography. RESULTS: iRBD patients and PD patients with RBD had increased EMG-activity compared to healthy controls. (123)I-FP-CIT uptake in the putamen-region was highest in controls, followed by iRBD patients, and lowest in PD patients. In iRBD patients, EMG-activity in the mentalis muscle was correlated to (123)I-FP-CIT uptake in the putamen. In PD patients, EMG-activity was correlated to anti-Parkinson medication. CONCLUSIONS: Our results support the hypothesis that increased EMG-activity during REM sleep is at least partly linked to the nigrostriatal dopamine system in iRBD, and with dopamine function in PD.

Ruptured human Achilles tendon has elevated metabolic activity up to 1 year after repair.

PURPOSE: Following Achilles tendon rupture, running is often allowed after 6 months. However, tendon healing is slow and the metabolic status of the tendon at this point is unknown. The purpose of this study was to investigate tendon metabolism (glucose uptake) and vascularization at 3, 6 and 12 months after Achilles tendon rupture as measured using PET and power Doppler ultrasonography (PDUS). METHODS: The study group comprised 23 patients with surgically repaired Achilles tendon rupture who were investigated at 3 months (n = 7), 6 months (n = 7) and 12 months (n = 9) after surgery. The triceps surae complex was loaded over 20 min of slow treadmill walking while a radioactive tracer ((18)F-FDG) was administered prior to PET. Vascularization was measured in terms of PDUS flow activity, and patient-reported outcomes were scored using the Achilles tendon rupture score (ATRS) and sports assessment (VISA-A) questionnaire. RESULTS: Relative glucose uptake ((18)F-FDG) was higher in repaired tendons than in intact tendons at all time-points (6, 3 and 1.6 times higher at 3, 6 and 12 months, respectively; P ≤ 0.001), and was also higher in the tendon core than in the periphery at 3 and 6 months (P ≤ 0.02), but lower at 12 months (P = 0.06). Relative glucose uptake was negatively related to ATRS at 6 months after repair (r = -0.89, P ≤ 0.01). PDUS flow activity was higher in repaired tendons than in intact tendons at 3 and 6 months (P < 0.05 for both), but had normalized by 12 months. CONCLUSION: These data demonstrate that the healing process as determined by metabolic activity and vascularization continues for 6 months after injury when large loads are typically allowed on the tendon. Indeed, metabolic activity remained elevated for more than 1 year after injury despite normalized vascularization. The robust negative correlation between tendon metabolism and patient-reported outcome suggests that a high metabolic activity 6 months after the injury may be related to a poor clinical healing outcome.

Frontal D2/3 Receptor Availability in Schizophrenia Patients Before and After Their First Antipsychotic Treatment: Relation to Cognitive Functions and Psychopathology.

BACKGROUND: We have previously reported associations between frontal D2/3 receptor binding potential positive symptoms and cognitive deficits in antipsychotic-naïve schizophrenia patients. Here, we examined the effect of dopamine D2/3 receptor blockade on cognition. Additionally, we explored the relation between frontal D2/3 receptor availability and treatment effect on positive symptoms. METHODS: Twenty-five antipsychotic-naïve first-episode schizophrenia patients were examined with the Positive and Negative Syndrome Scale, tested with the cognitive test battery Cambridge Neuropsychological Test Automated Battery, scanned with single-photon emission computerized tomography using the dopamine D2/3 receptor ligand [(123)I]epidepride, and scanned with MRI. After 3 months of treatment with either risperidone (n=13) or zuclopenthixol (n=9), 22 patients were reexamined. RESULTS: Blockade of extrastriatal dopamine D2/3 receptors was correlated with decreased attentional focus (r = -0.615, P=.003) and planning time (r = -0.436, P=.048). Moreover, baseline frontal dopamine D2/3 binding potential and positive symptom reduction correlated positively (D2/3 receptor binding potential left frontal cortex rho = 0.56, P=.003; D2/3 receptor binding potential right frontal cortex rho = 0.48, P=.016). CONCLUSIONS: Our data support the hypothesis of a negative influence of D2/3 receptor blockade on specific cognitive functions in schizophrenia. This is highly clinically relevant given the well-established association between severity of cognitive disturbances and a poor functional outcome in schizophrenia. Additionally, the findings support associations between frontal D2/3 receptor binding potential at baseline and the effect of antipsychotic treatment on positive symptoms.

Macrophage Phenotype Is Associated With the Regenerative Response in Experimental Replacement of the Porcine Esophagus.

A porcine model for bridging circumferential defects in the intrathoracic esophagus has been developed in order to improve the treatment of children born with long-gap esophageal atresia. The aim of this study was to identify factors beneficial for tissue regeneration in the bridging area in this model and to describe the histological progression 20 days after replacement with a silicone-stented Biodesign mesh. Resection of 3 cm of intrathoracic esophagus and replacement with a bridging graft was performed in six newly weaned piglets. They were fed through a gastrostomy for 10 days, and then had probe formula orally for another 10 days prior to sacrifice. Two out of six piglets had stent loss prior to sacrifice. In the four piglets with the stent in place, a tissue tube, with visible muscle in the wall, was seen at sacrifice. Histology showed that the wall of the healing area was well organized with layers of inflammatory cells, in-growing vessels, and smooth muscle cells. CD163+ macrophages was seen toward the esophageal lumen. In the animals where the stent was lost, the bridging area was narrow, and histology showed a less organized structure in the bridging area without the presence of CD163+ macrophages. This study indicates that regenerative healing was seen in the porcine esophagus 20 days after replacement of a part of the intrathoracic esophagus with a silicone-stented Biodesign mesh, if the bridging graft is retained. If the graft is lost, the inflammatory pattern changes with invasion of proinflammatory, M1 macrophages in the entire wall, which seems to redirect the healing process toward scar formation.

Treatment and Follow-Up of Patients with Long-Gap Esophageal Atresia: 15 Years' of Experience from the Western Region of Sweden.

OBJECTIVE: This retrospective study aims to report treatment results in patients with long-gap esophageal atresia (LGEA), gross A + B type, and discuss the value of different clinical findings and physiological tests in the follow-up. METHODS: This retrospective observational study comprises all patients with LGEA admitted to our department between 1995 and 2010. RESULTS: A total of 16 patients were included. Their mean gestational age was 35(+2) weeks and their mean birth weight was 1,945 g (-2.5 standard deviation scores). No catch-up growth in height could be seen and they remained smaller than the average population during the study period. Gastrostomy was performed as the first surgical procedure. Overall, 11 of the 16 patients had a delayed primary anastomosis. Elongation of the distal esophageal segment was required in 3 of the 16 patients and a colonic interposition in 2 of the 16 patients. The median age at definitive surgery was 150 days. All the patients had gastroesophageal reflux after their definitive surgery. Three of the 16 patients required surgery due to aspiration and all 3 had a pathological lung clearance index (LCI) at multiple-breath washout (MBW). At the age of 1 or 7 years, the LCI was pathological in 4 of the 14 patients, and spirometry showed an obstruction in 9 of the 14 patients. CONCLUSION: LGEA is a severe congenital malformation, with severe morbidity. No mortality was seen. MBW could be a useful tool for the early detection of progressive pulmonary damage.

Physiological Studies at 7 Years of Age in Children Born with Esophageal Atresia.

OBJECTIVE: For many years, esophageal atresia (EA) has been curable by surgery. However, severe respiratory morbidity and gastroesophageal reflux (GER) symptoms remain a problem in many patients. The purpose of this study was to describe respiratory and esophageal morbidity, esophageal function, and lung function, including the small airways, in patients with the most common type of the malformation (EA with a distal fistula). METHODS: The study comprised 26 children undergoing surgery for EA, who had performed respiratory and esophageal function studies at the age of 7 years in a follow-up program. The study design was retrospective analysis of both these 7-year functional investigations and esophageal and respiratory morbidity from birth to the age of 7 years, as documented in medical records. Pulmonary function was evaluated mainly by spirometry and multiple breath washout (MBW), whereas esophageal function was evaluated by 24-hour pH studies. RESULTS: We found a high prevalence of both respiratory (69%) and esophageal (62%) morbidity between birth and 7 years among the EA children. Examination with MBW (peripheral airway function) revealed few abnormal results, whereas spirometry revealed high airway obstruction in half the children, which also correlated well with overall respiratory symptoms (p = 0.047), as well as recurrent pneumonias (p = 0.035). However, no association with GER symptoms was found. In addition, 46% of the children had GER according to pH measurements, which were correlated to clinical GER symptoms but not to respiratory symptoms. CONCLUSION: This study confirms a high prevalence of respiratory and esophageal morbidity. In terms of respiratory function, the high proportion with a spirometric abnormality indicated an associated developmental delay/dysfunction in the central airways, whereas the peripheral airways appeared to have normal function at this age. Tracheomalacia may explain the spirometric abnormalities, but this need to be studied in more detail.

Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.

Parkinsonism and attention deficit hyperactivity disorder (ADHD) are widespread brain disorders that involve disturbances of dopaminergic signaling. The sodium-coupled dopamine transporter (DAT) controls dopamine homeostasis, but its contribution to disease remains poorly understood. Here, we analyzed a cohort of patients with atypical movement disorder and identified 2 DAT coding variants, DAT-Ile312Phe and a presumed de novo mutant DAT-Asp421Asn, in an adult male with early-onset parkinsonism and ADHD. According to DAT single-photon emission computed tomography (DAT-SPECT) scans and a fluoro-deoxy-glucose-PET/MRI (FDG-PET/MRI) scan, the patient suffered from progressive dopaminergic neurodegeneration. In heterologous cells, both DAT variants exhibited markedly reduced dopamine uptake capacity but preserved membrane targeting, consistent with impaired catalytic activity. Computational simulations and uptake experiments suggested that the disrupted function of the DAT-Asp421Asn mutant is the result of compromised sodium binding, in agreement with Asp421 coordinating sodium at the second sodium site. For DAT-Asp421Asn, substrate efflux experiments revealed a constitutive, anomalous efflux of dopamine, and electrophysiological analyses identified a large cation leak that might further perturb dopaminergic neurotransmission. Our results link specific DAT missense mutations to neurodegenerative early-onset parkinsonism. Moreover, the neuropsychiatric comorbidity provides additional support for the idea that DAT missense mutations are an ADHD risk factor and suggests that complex DAT genotype and phenotype correlations contribute to different dopaminergic pathologies.

Early regenerative response in the intrathoracic porcine esophagus-the impact of the inflammation.

In order to improve the treatment of children born with long-gap esophageal atresia, a porcine model was developed for studying esophageal regrowth using a bridging graft composed of a silicone stented Biodesign mesh. The aim of the study was to investigate how leakage and contact between the native muscle and Biodesign mesh affected the early healing response. Resection of 3 cm of intrathoracic esophagus was performed in 10 newly weaned piglets. They were fed through a gastrostomy 8-10 days prior to sacrifice. In order to achieve nonleaking anastomoses, the silicone stent and suturing technique had to be adjusted between the first four and second six piglets. The technical adjustment decreased leakage. A nonleaking anastomosis could not be achieved when the native muscle layers were sewn less central on the bridging graft compared with the mucosa. If there was leakage, the inflammatory response increased, with islets of perivascular T-lymphocytes and infiltration of macrophages in the native muscle layers. In the bridging area, new vessels were seen in the submucosa in 9 of 10 piglets between 4 and 10 days after surgery. Smooth muscle cells also appeared to move from the cut muscle edges of both the muscularis mucosa and the lamina muscularis and were seen as a layer of several cells under newly formed mucosa. Double staining of the basal membrane of the ingrowing vessels and the pericytes showed that the basal membrane was thinner over some of the pericytes, but there was no accumulation of immature-looking cells in the submucosa of the bridging area. In this porcine model, where esophageal regrowth was studied by using a bridging graft composed of a silicone stented Biodesign mesh, we can conclude that leakage increased the inflammatory response in early healing. Ingrowth of new vessels was seen in the bridging area and movement of smooth muscle cells was found under newly formed mucosa.

Prepulse inhibition is associated with attention, processing speed, and 123I-FP-CIT SPECT in Parkinson's disease.

BACKGROUND: Prepulse inhibition is a measure of sensorimotor gating, which reflects the ability to filter or 'gate' irrelevant information. Prepulse inhibition is dramatically altered in basal ganglia disorders associated with dysfunction in the midbrain dopaminergic system, and corresponding cognitive information processing deficits such as slowed processing speed. Parkinson's disease is characterised by the degeneration of the midbrain dopaminergic system and is associated with cognitive dysfunction, including slowed information processing. Although sensorimotor processes in Parkinson's disease have been extensively studied in relation to motor function, less is known about the potential role of sensorimotor processes in cognitive function. OBJECTIVE: We investigated the relationship between prepulse inhibition, cognition and nigrostriatal dysfunction, as measured with 123I-FP-CIT-SPECT scanning, in patients with Parkinson's disease. METHODS: 38 Parkinson patients were assessed with prepulse inhibition, neuropsychological tests, and neurological investigation. A subset of these patients underwent 123I-FP-CIT-SPECT scanning. RESULTS: Patients with a higher level of prepulse inhibition performed better on cognitive measures tapping attention and processing speed than patients with a lower level of prepulse inhibition. Furthermore, there were significant correlations between prepulse inhibition and 123I-FP-CIT uptake in the striatum. CONCLUSIONS: Our results suggest that the level of prepulse inhibition is related to the efficiency of information processing in Parkinson's disease, and to the density of dopamine transporters in the striatum.

Relationship of frontal D(2/3) binding potentials to cognition: a study of antipsychotic-naive schizophrenia patients.

Studies of in vivo dopamine receptors in schizophrenia have mostly focused on D(2) receptors in striatal areas or on D(1) receptors in cortex. No previous study has examined the correlation between cortical dopamine D(2/3) receptor binding potentials and cognition in schizophrenia patients. The objective was to examine this relation in the frontal cortex in first-episode, drug-naive schizophrenia patients. Based on preclinical and pharmacological evidence, we specifically expected to find a relation between D(2/3) receptor binding potentials and set shifting. This was a cross-sectional, case-control study using single-photon emission computerized tomography with the D(2/3)-receptor ligand [(123)I]epidepride, co-registered with structural magnetic resonance imaging and correlated to cognitive measures. Participants were 24 antipsychotic-naive, first-episode schizophrenia patients and 20 healthy controls matched for gender and age. For patients, a significant linear correlation between D(2/3) BP(ND) and set shifting was found, while significant quadratic associations were observed for verbal fluency, planning and attention. For controls, the only significant association with D(2/3) BP(ND) was a quadratic partial correlation for set shifting. The main findings indicated a relation between D(2/3) receptor binding in the frontal cortex and set shifting, planning and attention, but also support a differential involvement of cortical dopamine D(2/3) receptor binding in at least some cognitive functions, perhaps particularly attention, in schizophrenia patients compared to healthy people. The results suggest that cortical D(2/3) receptor function may be more involved in some cognitive functions (i.e. attention, fluency and planning) in patients with schizophrenia than in healthy people, suggesting that information processing in schizophrenia may be characterized by lower signal:noise ratios.

Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: a case report.

BACKGROUND: The autosomal dominant spinocerebellar ataxias (SCAs) confine a group of rare and heterogeneous disorders, which present with progressive ataxia and numerous other features e.g. peripheral neuropathy, macular degeneration and cognitive impairment, and a subset of these disorders is caused by CAG-repeat expansions in their respective genes. The diagnosing of the SCAs is often difficult due to the phenotypic overlap among several of the subtypes and with other neurodegenerative disorders e.g. Huntington's disease. CASE PRESENTATION: We report a family in which the proband had rapidly progressing cognitive decline and only subtle cerebellar symptoms from age 42. Sequencing of the TATA-box binding protein gene revealed a modest elongation of the CAG/CAA-repeat of only two repeats above the non-pathogenic threshold of 41, confirming a diagnosis of SCA17. Normally, repeats within this range show reduced penetrance and result in a milder disease course with slower progression and later age of onset. Thus, this case presented with an unusual phenotype. CONCLUSIONS: The current case highlights the diagnostic challenge of neurodegenerative disorders and the need for a thorough clinical and paraclinical examination of patients presenting with rapid cognitive decline to make a precise diagnosis on which further genetic counseling and initiation of treatment modalities can be based.

(18)F-FDG PET/CT in a rare case of Stewart-Treves syndrome: future implications and diagnostic considerations.

BACKGROUND: The aim of this article is to illustrate the possible applications of (18)F-fluorodeoxyglucose positron emission tomography/computer tomography ((18)F-FDG PET/CT) in chronic extremity lymphedema and its complications. METHODS AND RESULTS: (18)F-FDG PET/CT findings in a rare case of Stewart-Treves Syndrome (STS), angiosarcoma secondary to chronic extremity lymphedema, are presented. Lymphedema of the extremities is a debilitating disease characterized by chronic swelling due to interstitial edema caused by insufficient lymphatic drainage capacity. Progression with skin thickening, subcutaneous fibrosis, and increased adipose tissue volume is common. Chronic inflammation has been suggested as a key pathophysiologic component. STS is a rare complication with a very poor prognosis; however, early diagnosis and radical treatment is associated with increased survival. Thus, accurate pretreatment staging is paramount. (18)F-FDG PET/CT is highly sensitive in detecting increased glucose metabolism as seen in many types of cancer and inflammation. The role of (18)F-FDG PET/CT in the management of lymphedema and its complications has to our knowledge yet to be described. This case documents high (18)F-FDG uptake in STS, but is at the same time an example of the low specificity of this imaging modality. CONCLUSIONS: We suggest that (18)F-FDG PET/CT has the potential to become an important tool in the staging and treatment planning of Stewart-Treves syndrome. Furthermore, (18)F-FDG-accumulation may be a sensitive tool in detecting low grade inflammation in the skin and subcutis, which has been suggested to cause tissue remodeling in lymphedema progression. However, further studies are needed to elucidate this theory.

Long-term respiratory symptoms following oesophageal atresia.

BACKGROUND: Oesophageal atresia (OA) is a congenital malformation that can lead to persistent respiratory symptoms in adulthood. AIM: To describe the prevalence of respiratory symptoms in adulthood in a population-based study of patients with repaired OA and to compare this with the prevalence in the general population. METHODS: Of 80 patients operated for OA in Gothenburg in 1968-1983, 79 were located. The patients received a questionnaire on respiratory symptoms. Controls were 4979 gender- and age-matched subjects who answered the same questions. RESULTS: The questionnaire was answered by 73 of 79 (92%) patients. Physician-diagnosed asthma was reported by 30% in the OA group vs 10% in the control group (OR 4.1; 95% CI 2.4-6.8), and recurrent wheeze in 29% vs 5.5% (OR 6.9; 4.1-11.6). Also wheeze during the last year, asthma medication, a long-standing cough, cough with sputum production and chronic bronchitis were significantly more common among the patients with OA. In contrast, there was no significant difference regarding risk factors for asthma. The prevalence of respiratory symptoms did not appear to decrease with age. CONCLUSION: A high prevalence of respiratory symptoms remains among adult patients with repaired OA. Many of the patients had an asthma diagnosis. However, asthma heredity or allergic rhinitis was not overrepresented.