The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review

Background. Prenatal diagnosis of Optiz G/BBB syndrome (OS) is challenging because the characteristic clinical features, such as facial and genitourinary anomalies, may be subtle at sonography and rather unspecific. Furthermore, molecular testing of the disease gene is not routinely performed, unless a specific diagnosis is suggested. Method. Both familial and ultrasound data were used to achieve the diagnosis of X-linked OS (XLOS), which was confirmed by molecular testing of MID1 gene (Xp22.3) at birth. Results. Sequencing of MID1 gene disclosed the nucleotide change c.1285 +1 G>T, previously associated with XLOS. Conclusions. This case illustrates current challenges of the prenatal diagnostic work-up of XLOS and exemplifies how clinical investigation, including family history, and accurate US foetal investigations can lead to the correct diagnosis.

Acute hemorrhagic edema of young children: a prospective case series.

Acute hemorrhagic edema of young children is a rare leukocytoclastic vasculitis that has been reported exclusively in small retrospective cases series, case reports, or quizzes. Considering that retrospective experience deserves confirmation in at least one observational prospective study, we present our experience with 16 children (12 boys and 4 girls, 5-28 months of age) affected by acute hemorrhagic edema. The patients were in good general conditions and with a low-grade or even absent fever. They presented with non-itching red to purpuric targetoid lesions not changing location within hours, with non-pitting and sometimes tender indurative swelling, and without mucous membrane involvement or scratch marks. Signs for articular, abdominal, or kidney involvement were absent. Antinuclear or antineutrophil cytoplasmic autoantibodies were never detected. The cases were managed symptomatically as outpatients and fully resolved within 4 weeks or less. No recurrence or familiarity was noted. CONCLUSION This is the first prospective evaluation of hemorrhagic edema. Our findings emphasize its distinctive tetrad: a well-appearing child; targetoid lesions that do not change location within hours; non-pitting, sometimes tender edema; complete resolution without recurrence. What is known • Acute hemorrhagic edema of young children is considered a benign vasculitis. • There have been ≈100 cases reported in small retrospective case series. What is new • The first prospective evaluation of this condition emphasizes its features: febrile prodrome; well-appearing child; targetoid lesions not changing location within hours; non-pitting, sometimes tender indurative edema; absent extracutaneous involvement; resolution within 3 weeks. • Antineutrophil cytoplasmic autoantibodies do not play a pathogenic role.

Frequencies and risk factors for bisphosphonate-related osteonecrosis of the jaw in cancer patients: A matched case-control study

Bisphosphonates represent a unique class of drugs that effectively treat and prevent a variety of bone-related disorders including metastatic bone disease and osteoporosis. High tolerance and high efficacy rates quickly ranked bisphosphonates as the standard of care for bone-related diseases. However, in the early 2000s, case reports began to surface that linked bisphosphonates with osteonecrosis of the jaw (ONJ). Since that time, studies conducted have corroborated the linkage. However, as with most disease states, many factors can contribute to the onset of disease. The aim of this study was to determine which comorbid factors presented an increased risk for developing ONJ in cancer patients.^ Using a case-control study design, investigators used a combination of ICD-9 codes and chart review to identify confirmed cases of ONJ at The University of Texas M. D. Anderson Cancer Center (MDACC). Each case was then matched to five controls based on age, gender, race/ethnicity, and primary cancer diagnosis. Data querying and chart review provided information on variables of interest. These variables included bisphosphonate exposure, glucocorticoids exposure, smoking history, obesity, and diabetes. Statistical analysis was conducted using PASW (Predictive Analytics Software) Statistics, Version 18 (SPSS Inc., Chicago, Illinois).^ One hundred twelve (112) cases were identified as confirmed cases of ONJ. Variables were run using univariate logistic regression to determine significance (p < .05); significant variables were included in the final conditional logistic regression model. Concurrent use of bisphosphonates and glucocorticoids (OR, 18.60; CI, 8.85 to 39.12; p < .001), current smokers (OR, 2.52; CI, 1.21 to 5.25; p = .014), and presence of diabetes (OR, 1.84; CI, 1.06 to 3.20; p = .030) were found to increase the risk for developing ONJ. Obesity was not associated significantly with ONJ development.^ In this study, cancer patients that received bisphosphonates as part of their therapeutic regimen were found to have an 18-fold increase in their risk of developing ONJ. Other factors included smoking and diabetes. More studies examining the concurrent use of glucocorticoids and bisphosphonates may be able to strengthen any correlations.^

Fulminant hepatic and multiple organ failure following acute viral tonsillitis: a case report.

BACKGROUND Pyogenic tonsillitis may often be observed in the general Western population. In severe cases, it may require antibiotic treatment or even hospitalization and often a prompt clinical response will be noted. Here we present an unusual case of progressive multiple organ failure including fulminant liver failure following acute tonsillitis initially mistaken for "classic" pyogenic (that is bacterial) tonsillitis. CASE PRESENTATION A 68-year-old previously healthy white man was referred with suspicion of pyogenic angina. After tonsillectomy, he developed acute liver failure and consecutive multiple organ failure including acute hemodynamic, pulmonary and dialysis-dependent renal failure. Immunohistopathological analysis of his tonsils and liver as well as serum polymerase chain reaction analyses revealed herpes simplex virus-2 to be the causative pathogen. Treatment included high-dose acyclovir and multiorgan supportive intensive care therapy. His final outcome was favorable. CONCLUSIONS Fulminant herpes simplex virus-2-induced multiple organ failure is rarely observed in the Western hemisphere and should be considered a potential diagnosis in patients with tonsillitis and multiple organ failure including acute liver failure. From a clinical perspective, it seems important to note that fulminant herpes simplex virus-2 infection may masquerade as "routine" bacterial severe sepsis/septic shock. This persevering condition should be diagnosed early and treated goal-oriented in order to gain control of this life-threatening condition.

Revisiting a series of epithelial salivary gland tumors in children and adolescents in southern Portugal

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014

Strategic Voting in Proportional Systems: The Case of Finland. IHS Political Science Series No. 138, September 2014

Voters try to avoid wasting their votes even in PR systems. In this paper we make a case that this type of strategic voting can be observed and predicted even in PR systems. Contrary to the literature we do not see weak institutional incentive structures as indicative of a hopeless endeavor for studying strategic voting. The crucial question for strategic voting is how institutional incentives constrain an individual’s decision-making process. Based on expected utility maximization we put forward a micro-logic of an individual’s expectation formation process driven by institutional and dispositional incentives. All well-known institutional incentives to vote strategically that get channelled through the district magnitude are moderated by dispositional factors in order to become relevant for voting decisions. Employing data from Finland – because of its electoral system a particularly hard testing ground - we find considerable evidence for observable implications of our theory.

Treatment approach in patients with hyperbilirubinemia secondary to liver metastases in gastrointestinal malignancies: a case series and review of literature

BACKGROUND: Treatment of patients with severe liver dysfunction including hyperbilirubinemia secondary to liver metastases of gastrointestinal (GI) cancer is challenging. Regimen of oxaliplatin and fluoropyrimidine (FP)/folinic acid (FA) ± a monoclonal antibody (moAb), represents a feasible option considering the pharmacokinetics. Clinical data on the respective dosage and tolerability are limited and no recommendations are available. METHODS: Consecutive patients with severe hyperbilirubinemia [>2 × upper limit of the normal range (ULN) and >2.4 mg/dl] due to liver metastases of GI cancer without options for drainage receiving oxaliplatin, FP/FA ± moAb were analyzed. To collect further data a review of the literature was performed. RESULTS: A total of 12 patients were identified between 2011 and 2015. At treatment start, median bilirubin level was 6.1 mg/dl (>5 × ULN, range 2.7-13.6). The majority of patients (n = 11) received dose-reduced regimen with oxaliplatin (60-76%) and FP/FA (0-77%), rapidly escalating to full dose regimen. During treatment, bilirubin levels dropped more than 50% within 8 weeks or normalized within 12 weeks in 6 patients (responders). Median overall survival was 5.75 months (range 1.0-16.0 months) but was significantly prolonged in responders compared to nonresponders [9.7 and 3.0 months, p = 0.026 (two-sided test); 95% confidence interval (CI): 1.10-10.22]. In addition, case reports or series comprising a further 26 patients could be identified. Based on the obtained data a treatment algorithm was developed. CONCLUSION: Treatment with oxaliplatin, FP/FA ± moAb is feasible and may derive relevant benefits in patients with severe liver dysfunction caused by GI cancer liver metastases without further options of drainage.

A discussion of cases in the 2001 RCPA-AQAP chemical pathology case report comments program

Aim: We present a descriptive analysis of the 10 case reports distributed in the Royal College of Pathologists of Australasia (RCPA) and the Australasian Association of Clinical Biochemists (AACB) Chemical Pathology Patient Report Comments Program to assess the quality of interpretative commenting in clinical biochemistry in 2001. Method: Participants were asked to comment on a given set of biochemistry results attached with brief clinical details. All responses received were translated into key phrases and graphically presented on a histogram. An expert panel was asked to evaluate the appropriateness of the key phrases and to propose a suggested composite comment. Results: While the majority of comments received were felt to be acceptable by the expert panel, some comments were felt to be inappropriate or misleading. As comments on laboratory reports may affect clinical management of patients, it is important that these comments reflect accepted practice and current guidelines. Conclusion: The Patient Report Comments Program may play an important role in continuing education and possibly in quality assurance of interpretative commenting.

The effect of voluntary fasting and dehydration on flicker-induced retinal vascular dilation in a healthy individual: a case report

INTRODUCTION: Dynamic retinal vessel analysis represents a well-established method for the assessment of vascular reactivity during both normal conditions and after various provocations. We present a case where the subject showed abnormal retinal vessel reactivity after fasting voluntarily for 20 hours. CASE PRESENTATION: A healthy, 21-year-old man who fasted voluntarily for 20 hours exhibited abnormal retinal vascular reactivity (dilation and constriction) after flicker provocation as measured using the Dynamic Retinal Vessel Analyser (Imedos, Jena, Germany). CONCLUSION: The abnormal vascular reactivity induced by fasting was significant; abnormal levels of important nutrients due to fasting and dehydration could play a role through altering the concentration of vasoactive substances such as nitric oxide. This hypothesis needs further investigation.

Editorial

The American Academy of Optometry (AAO) had their annual meeting in San Diego in December 2005 and the BCLA and CLAE were well represented there. The BCLA does have a reasonable number of non-UK based members and hopefully in the future will attract more. This will certainly be beneficial to the society as a whole and may draw more delegates to the BCLA annual conference. To increase awareness of the BCLA at the AAO a special evening seminar was arranged where BCLA president Dr. James Wolffsohn gave his presidential address. Dr. Wolffsohn has given the presidential address in the UK, Ireland, Hong Kong and Japan – making it the most travelled presidential address for the BCLA to date. Aside from the BCLA activity at the AAO there were numerous lectures of interest to all, truly a “something for everyone” meeting. All the sessions were multi-track (often up to 10 things occurring at the same time) and the biggest dilemma was often deciding what to attend and more importantly what you will miss! Nearly 200 new AAO Fellows were inducted at the Gala Dinner from many countries including 3 new fellows from the UK (this year they all just happened to be from Aston University!). It is certainly one of the highlights of the AAO to see fellows from different schools of training from around the world fulfilling the same criteria and being duly rewarded for their commitment to the profession. BCLA members will be aware that 2006 sees the introduction of the new fellowship scheme of the BCLA and by the time you read this the first set of fellowship examinations will have taken place. For more details of the FBCLA scheme see the BCLA web site http://www.bcla.org.uk. Since many of CLAE's editorial panel were at the AAO an informal meeting and dinner was arranged for them where ideas were exchanged about the future of the journal. It is envisaged that the panel will meet twice a year – the next meeting will be at the BCLA conference. The biggest excitement by far was the fact that CLAE is now Medline/PubMed indexed. You may ask why is this significant to CLAE? PubMed is the free web-based service from the US National Library of Medicine. It holds over 15 million biomedical citations and abstracts from the Medline database. Medline is the largest component of PubMed and covers over 4800 journals published in more than 70 countries. The impact of this is that CLAE is starting to attract more submissions as researchers and authors are not worried that their work will not be hidden from other colleagues in the field but rather the work is available to view on the World Wide Web. CLAE is one of a very small number of contact lens journals that is indexed this way. Amongst the other CL journals listed you will note that the International Contact Lens Clinic has now merged with CLAE and the journal CLAO has been renamed Eye and Contact Lenses – making the list of indexed CL journals even smaller than it appears. The on-line submission and reviewing system introduced in 2005 has also made it easier for authors to submit their work and easier for reviewers to check the content. This ease of use has lead to quicker times from submission to publication. Looking back at the articles published in CLAE in 2005 reveals some interesting facts. The majority of the material still tends to be from UK groups related to the field of Optometry, although we hope that in the future we will attract more work from non-UK groups and also from non-Optometric areas such as refractive surgery or anterior eye pathology. Interestingly in 2005 the most downloaded article from CLAE was “Wavefront technology: Past, present and future” by Professor W. Neil Charman, who was also the recipient of the Charles F. Prentice award at the AAO – one of the highest awards honours that the AAO can bestow. Professor Charman was also the keynote speaker at the BCLA's first Pioneer's Day meeting in 2004. In 2006, readers of CLAE will notice more changes, firstly we are moving to 5 issues per year. It is hoped that in the future, depending on increased submissions, a move to 6 issues may be feasible. Secondly, CLAE will aim to have one article per issue that carries CL CET points. You will see in this issue there is an article from Professor Mark Wilcox (who was a keynote speaker at the BCLA conference in 2005). In future articles that carry CET points will be either reviews from BCLA conference keynote speakers, members of the editorial panel or material from other invited persons that will be of interest to the readership of CLAE. Finally, in 2006, you will notice a change to the Editorial Panel, some of the distinguished panel felt that it was good time to step down and new members have been invited to join the remaining panel. The panel represent some of the most eminent names in the fields of contact lenses and/or anterior eye and have varying backgrounds and interests from many of the prominent institutions around the world. One of the tasks that the Editorial Panel undertake is to seek out possible submissions to the journal, either from conferences they attend (posters and papers that they will see and hear) and from their own research teams. However, on behalf of CLAE I would like to extend that invitation to seek original articles to all readers – if you hear a talk and think it could make a suitable publication to CLAE please ask the presenters to submit the work via the on-line submission system. If you found the work interesting then the chances are so will others. CLAE invites submissions that are original research, full length articles, short case reports, full review articles, technical reports and letters to the editor. The on-line submission web page is http://www.ees.elsevier.com/clae/.

Esophageal intramural pseudodiverticulosis characterized by barium esophagography: a case report

Introduction. Esophageal intramural pseudodiverticulosis is a rare condition characterized by the dilatation of the submucosal glands. Case presentation. We present a case of esophageal intramural pseudodiverticulosis in a 72-year-old Caucasian man who presented with dysphagia and with a background history of alcohol abuse. An upper gastrointestinal endoscopy of our patient showed an esophageal stricture with abnormal mucosal appearances, but no malignant cells were seen at biopsy. Appearances on a barium esophagram were pathognomonic for esophageal intramural pseudodiverticulosis. Conclusion. We demonstrate the enduring usefulness of barium esophagography in the characterization of abnormal mucosal appearances at endoscopy.

Extra-adrenal perirenal myelolipoma. A case report and review of literature

Myelolipomas are rare tumours which are most commonly found in association with the adrenal glands. However, extra-adrenal sites have been described, but limited to case reports. They are characterized by a normal adrenal gland function and absence of haematopoesis which differentiates them from extramedullary haematopoetic tumours. We present a rare case of perirenal extra-adrenal myelolipoma and we review the imaging characteristics and management options for this condition.

Non-Celiac Gluten Sensitivity and Autoimmunity. A Case Report

Introduction, objective: To present a case report in which the finding of non-coeliac gluten sensitivity was decisive for the treatment of a complex autoimmune disease. Materials and methods: A 43-year-old woman with polyarthritis, psoriatic features, anti-SSA/Ro and anti-cyclic citrullinated peptide antibodies, with refractory course, was evaluated for gluten sensitivity despite negative serology for coeliac disease. Results: The patient carried the HLA DQ2 haplotype and duodenal biopsy showed lymphocytic enteritis. A gluten-free diet resolved the clinical picture and permitted tapering of immunosuppressive therapy. Conclusion: Non-coeliac gluten sensitivity can be associated with autoimmunity despite the absence of the specific autoantibodies of coeliac disease.

An Unusual Case of Cerebral Oedema

Hereditary angioedema (HAE) is a rare genetic disorder transmitted as an autosomal dominant trait, characterized by reduced plasma concentration or by the presence of non-functional C1 esterase inhibitor. Oedema caused by HAE mostly affects the skin and bowel and can induce swelling of genitalia. Oedema can be life threatening if it causes swelling of the larynx with obstruction of the airways. We describe the case of a 52-year-old man who presented a neurological emergency (coma), where the remarkable localization of the clinical manifestation and the unusual symptomatology hindered the correct diagnosis.

Multiple Myeloma Presenting with Distal Limb Gangrene: An Odd Case Report

Multiple myeloma (MM) is a plasmocytic malignant proliferation of a single clone resulting in an overabundance of monoclonal immunoglobulins. MM commonly presents with bone disorders, renal failure, anaemia and hypercalcaemia. Hyperviscosity syndrome is rare, as are vaso-occlusive symptoms. The authors report a dramatic case of an 80-year-old woman admitted to the emergency department with full-blown distal gangrene. The culprit turned out to be a MM, unusually presenting with symptomatic hyperviscosity and peripheral occlusive ischaemia. This catastrophic and particularly dramatic presentation is almost unprecedented, with only a few cases reported worldwide.