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Background: Accessible datasets are of fundamental importance to the advancement of Alzheimer’s disease (AD) research. The AddNeuroMed consortium conducted a longitudinal observational cohort study with the aim to discover AD biomarkers. During this study, a broad selection of data modalities was measured including clinical assessments, magnetic resonance imaging, genotyping, transcriptomic profiling, and blood plasma proteomics. Some of the collected data were shared with third-party researchers. However, this data was incomplete, erroneous, and lacking in interoperability. Objective: To provide the research community with an accessible, multimodal, patient-level AD cohort dataset. Methods: We systematically addressed several limitations of the originally shared resources and provided additional unreleased data to enhance the dataset. Results: In this work, we publish and describe ANMerge, a new version of the AddNeuroMed dataset. ANMerge includes multimodal data from 1,702 study participants and is accessible to the research community via a centralized portal. Conclusion: ANMerge is an information rich patient-level data resource that can serve as a discovery and validation cohort for data-driven AD research, such as, for example, machine learning and artificial intelligence approaches.

The COVID-19 pandemic has emerged as a serious global threat causing a large number of fatalities and putting enormous strain on the health care resources across the world. This has resulted in preferentially triaging the coronavirus infected patients and placing others, especially cardiovascular patients at increased risk for adverse complications. The effective management of cardiac patients in the hospital environment during this COVID-19 pandemic has emerged as a real challenge. We try to address this issue and also highlight the interplay between COVID-19 and cardiovascular diseases. We hereby review the available literature and emerging guidelines about cardiovascular implications related to COVID-19 which will have a bearing on the patient care, health care professionals and cardiac centres.

Haemoglobinopathies (thalassaemia and haemoglobin (Hb) variants) are the most common of all inherited monogenic disorders. More than 1800 mutations in alpha or beta globin genes are known to be responsible for haemoglobinopathies.1 The clinical spectrum of haemoglobinopathies is quite heterogeneous and depends on the underlying mutations. Here, we report, a de novo emergence of rare alpha chain variant Hb G-Waimanalo in a sickle cell disease patient. An 8-year-old Gond tribal girl born from a non-consanguineous marriage was referred to Division of Genetic Disorders at Indian Council of Medical Research-National Institute of Research in Tribal Health (ICMR-NIRTH) for differential diagnosis for haemolytic anaemia. She had a history of severe anaemia (Hb 47 g/L) and frequent bone and joint pain. She also had a history of multiple blood transfusions since the age of 3 years. Her weight was below 3 SD (17 kg). She exhibited pallor, icterus and typical thalassemic facial features with hepatosplenomegaly (spleen 9 cm and liver 5 cm below respective costal margins). Serum bilirubin count was 87.72 µmol/L (direct bilirubin=6.6 µmol/L and indirect bilirubin=81.57 µmol/L). Serum aspartate aminotransferase was 47.3 mg/dL, alanine aminotransferase was 19.6 mg/dL. Serum lactate dehydrogenase levels were also elevated (540 IU/L) suggesting haemolytic anaemia. Direct Coombs test was negative and glucose six phosphate dehydrogenase levels were within normal limits. Cellulose acetate Hb electrophoresis at alkaline pH (8.4) showed the presence of three Hb variants (figure 1A). One faint band was seen just below the HbA band, and other two bands were seen at position corresponding …

Sickle cell disease is a genetic disease linked to the presence of hemoglobin S in the blood and is a major public health problem in Africa. The drugs available are expensive in view of the purchasing power of the majority of the population. The aim of this study was to assess the clinical efficacy of an improved traditional medicine called Drepanoalpha (an anti-sickle cell polyherbal formula) in a homozygous sickle patient using the quantum magnetic resonance analyzer. The results show the relevance of the use of this unconventional technical approach in the sickle cell disease patient treatment evaluation. Indeed, this study showed that Drepanoalpha is effective in vivo and restored homeostatic balance by optimizing some vital functions in the treated patient. The quantum magnetic resonance analyzer is therefore an important away which allows understanding the disorders of the body due to sickle cell disease and their correction post-treatment. It is desirable that the use of this device be validated in the evaluation of the effectiveness of anti-sickling drugs in large-scale clinical trials in rural areas like Nord-Ubangi province. Indeed, this instrument is not only fast, practical, economical, accessible, non-invasive but also easy to use and suitable for this category of research in underprivileged areas. The results obtained are in perfect agreement with the facts observed (recovery of some vital parameters and disappearance of seizures in the patient).

We report here a case of bone marrow necrosis and fat embolism syndrome in a 23-year-old sickle-cell disease (HbSS) patient. A brutal and severe bicytopenia conducted to suspect bone marrow necrosis, confirmed by bone marrow aspiration and analysis. This was the first life-threatening medical event for this patient. In the present case, a complex alloimmunization against blood group antigens complicated the treatment because of the risks associated with the transfusion strategy. These rare complications of sickle-cell disease may be fatal, but an efficient symptomatic treatment generally allows for recovery. Medical biologists should be aware of the danger of bone marrow necrosis in sickle-cell disease, so that they can help clinicians and accurately diagnose this serious complication.

We report the accumulation of 99mTc-TRODAT-1 in the region of subacute cerebral ischemic infarction in an 81-year-old woman with Parkinson disease. The dopamine transporter SPECT imaging was performed on the 15th day after the onset of acute cerebral ischemic clinical symptoms. Overexpression of dopamine transporters after infarction in subacute phase may explain the accumulation.

Background Perforated peptic ulcer disease is a surgical emergency with a high morbidity and mortality. The socio-demographic characteristic and the factors associated with morbidity and mortality seems to differ between the developed and developing world. This is the first a prospective cohort study in Ethiopia designed to analyze pattern and outcome of patients with perforated peptic ulcer disease in four teaching hospitals affiliated with SOM, CHS of Addis Ababa University. Method This is a prospective cohort study of patients operated for perforated peptic ulcer disease from June 1, 2018 to May 31, 2019 in four teaching hospital affiliated to department of surgery of SOM, CHS of Addis Ababa university. Result A total of 97 patients were operated in a year. 86.6% were males with a male to female ratio of 6.5:1. The age group 21–30 were most affected constituting 42.3% of all patients. Mean age is 31.9, Median of 27, age ranges from 16 to 76. Alcohol use (45.4%) and previous history of ulcer disease (75.3%) were the most prevalent risk factors.33% were smokers. Abdominal was present in all and most presented within 48 h (79.4%). 85.6% had pneumo = peritoneum in an x-ray at presentation. Size of the perforation is 10 mm or less in 81.3%. 91(93.8%) had anterior first part duodenum perforation. Repair with pedicled omental patch was done in 65 (67.1%) patients. Age, duration of presentation, hypotension at presentation, size of perforation, degree of peritoneal contamination were found to be the significant factors for morbidity and mortality. Major morbidities were observed in 16 (16.5%) and mortality occurred in 3 (3.1%) patients. Conclusion Perforation of peptic ulcer disease here occurs in the young. Age, duration of presentation, hypotension at presentation, size of perforation, degree of peritoneal contamination were found to be the significant factors for morbidity and mortality. Morbidity and mortality rate of 16.5 and 3.1% observed here are quite acceptable.

Induced pluripotent stem cell (iPSC) line HUi001-A was reprogrammed from skin fibroblasts via non-integrating, virus free self-replicating RNA. Skin fibroblasts from an 81-year-old female Caucasian familial Alzheimer’s disease patient of Volga German family carrying N141I mutation in the PSEN2 gene (familial AD4, clinical summary confirmed Alzheimer’s disease) was obtained from the Coriell Institute (AG09908). Generated iPSCs were characterized and pluripotency was confirmed.

The first biosimilar of bevacizumab was approved by the US FDA; other potential biosimilars of bevacizumab are in late-stage clinical development. Their availability offers opportunity for increased patient access across a number of oncologic indications. The regulatory pathway for biosimilar approval relies on the totality of evidence that includes a comprehensive analytical assessment, and a clinical comparability study in a relevant disease patient population. Extrapolation of indications for a biosimilar to other eligible indications held by the originator, in the absence of direct clinical comparison, frequently forms part of the regulatory judgment. Herein, we consider the evidence required to demonstrate biosimilarity for bevacizumab biosimilars, with particular focus on the rationale for extrapolation across oncologic indications.

Introduction/Objective Voxelotor is a molecule that allosterically binds to the alpha-chain of hemoglobin, resulting in increased oxygen affinity. This allosteric inhibition leads to prevention of hemoglobin polymerization and sickling of red blood cells in response to low oxygen tension. Voxelotor has been used to treat patients with Sickle Cell Disease (SCD) and recent literature indicates it may contribute to complex hemoglobin fractionation (HF) elution patterns. We report a novel case of a SCD patient on concurrent Hydroxyurea, Voxelotor and chronic RBC exchange transfusion treatment and discuss the implications of these three treatment modalities on HF and monitoring of SCD. Methods A 17-year-old female with SCD complicated by frequent vaso-occlusive crisis, and avascular necrosis managed with chronic RBC exchange and Hydroxyurea. Her HF prior to initiation of Voxelotor treatment showed 3.2% HbA2, 51% HbA, 6.0% HbF, and 41% HbS. Voxelotor therapy was initiated at 1500mg/day and HF was performed 10 days later. Whole blood was collected and subjected to High Performance Liquid Chromatography (HPLC) with reflex to RBC solubility and Capillary Electrophoresis. Results HF performed post-Voxelotor therapy revealed positive sickle solubility with a complex pattern of 2.7% HbA2, 49.2% HbA, 5.3% HbF, 15.7% HbS, 0% HbC, and two additional peaks of a 6.3% peak in the window-D region (retention time of 4.34) and 20.8% of an atypical Hb peak pattern (at the retentuin time of 4.18). The results reflected a complex HF of a HbSS patient on concurrent chronic RBC exchange transfusion, hydroxyurea therapy, and Voxelotor treatment. Post Voxelotor-therapy HF revealed a reduction in HbS from 41% to 15.7% with the emergence of two additional peaks. Chronic RBC exchange transfusion and Hydroxyurea treatment account for the observed fractionation of HbA and HbF, respectively. Based on recent literature, we attribute the emergence of the two additional peaks to Voxelotor therapy. All three therapies led to reduction in HbS. Conclusion Routine HF serves as an essential modality in diagnosis and monitoring of SCD. Voxelotor treatment alters the HF profile and may cause difficulty for interpretation. With the emergence of novel therapies, it is imperative for clinicians to provide medication information to clinical laboratories and pathologists to be fully aware of the effects of current treatments to correctly interpret and monitor SCD.

Acromegaly is a rare disease that can have serious consequences. This disease is not widely known by stomatologists, although cranio-facial manifestations are important and rapid changes in the oral cavity are frequent and sometimes dramatic. The prosthetic management of patients with acromegaly is not easy because it is necessary to wait for the stabilization of the disease. If this is not the case, the bone changes prevent the stability of prostheses over time. Moreover, because of bone remodeling, some treatments are contra-indicated, which limits our therapeutic choices. Through this clinical case, we will focus on the oral manifestations of patients with acromegaly and the method of prosthetic management.

Induced pluripotent stem cell (iPSC) line HUi002-A was reprogrammed from skin fibroblasts via non-integrating, virus free self-replicating RNA. Skin fibroblasts from a 53-year-old male Caucasian, non-familial Parkinson's disease patient, idiopathic (clinical summary confirmed Parkinson's disease) was obtained from the Coriell Institute (AG20442). Generated iPSCs were characterized and pluripotency was confirmed.

Key Clinical Message A 65-year-old male, Parkinson’s disease patient, was evaluated for GPR109A expression, niacin index, UPDRS scale, handwriting test, and quality of sleep with and without niacin treatment. The evaluation was repeated 3 months after niacin was stopped. Niacin modulated the abovementioned parameters and showed the overall improvement without side effects.

BURDEN AMONG CAREGIVERS OF PATIENTS WITH PARKINSON DISEASE Background : Parkinson disease (EPI) patients often require being assisted by others. These caregivers are exposed to a decrease in their quality of life. Aim: To explore Parkinson disease patient features associated with a greater burden among their caregivers. Material and methods : Fifty one patients with Parkinson disease (aged 67±12 years, 29 men, with 8 ± 5 years of disease) and their caregivers, were studied. Patients were assessed with the Unified Parkinson Disease Rating Scale III, the Hoehn & Yahr stage standardization, Parkinson’s minimental test, the neuropsychiatric inventory and the Beck Depression Inventory (IDB). The Zarit Burden Interview (ESZ) was applied to caregivers. Results : According to IDB, 45% of patients whose caregivers presented little or no burden had a depression, compared to 78% of those whose caregivers had moderate or intense burden. (p Conclusions: Motor alterations, cognitive impairment and most importantly depression of patients with Parkinson disease are deteminants of burden for their caregivers. Normal 0 21 false false false ES X-NONE X-NONE /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Tabla normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin:0cm; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:"Times New Roman"; mso-bidi-theme-font:minor-bidi;}

Posterior reversible encephalopathy syndrome (PRES) is a clinico-ragiological syndrome presenting with neurological symptoms and characteristic radiologic findings. PRES occurs in the setting of various clinical conditions and requires prompt management of the causative factor for a full recovery. This is a case report of a Crohn's disease patient who developed PRES syndrome during a complicated post-operative course. In the presence of multiple causative factors, sepsis was considered as the predominant one. After prompt management, the patient recovered with no permanent neurological damage.

NMR metabolite fingerprints of fractions from an extract of the bryozoan Amathia tortuosa allowed identification of three known (1–3) and evidence of a new tribrominated metabolite. The new compound, kororamide B (4), was purified through NMR-guided isolation and the structure assigned by mass and detailed NMR analysis. The absolute configuration of the new compound was established by comparison of the experimental and calculated electronic circular dichroism spectra. The compounds displayed effects on early endosomes when profiled on human olfactory neurosphere-derived cells (hONS) derived from a Parkinson's disease patient using a multidimensional phenotypic assay.

We present here environmental factors including pH shifts, temperature, and metal ions surrounding Aβ40 monomer to precede the oligomers. We also suggest a new idea to detect Aβ40 oligomers with anti-Aβ40 monoclonal antibody using enzyme-linked immunosorbent assay. This method involves the different sensitivity of the thermal shifts between Aβ40 monomer and the oligomers. The idea is useful for the diagnostics of Alzheimer's disease to detect Aβ40 oligomers in the serum from the patients.

Hallucinations are common among patients with Parkinson disease (PD). Hallucinations, typically transitory and occurring at night, are classically visual and occur in 30% of treated patients; auditory hallucinations are rare. A musical hallucination (MH) is a rare type of complex auditory hallucination reported in only six PD patients so far. To the best of our knowledge, we present the first reported case of a patient with Parkinson disease who experienced auditory and visual MH.

Between 2001 and 2006 UK guidance recommended that people with mild to moderate Alzheimer’s disease were eligible for treatment with donepezil, rivastigmine and galanatamine on the National Health Service (NHS). However, there was considerable variation in uptake of and access to treatment. This qualitative study aimed to understand which factors influence decisions to initiate, continue and discontinue treatment with the drugs. The views and experiences of 12 older people referred for memory problems or receiving treatment, 11 family carers and 16 health and social care professionals were obtained using a combination of semi-structured interviews and focus groups. Four factors outside UK guidance and prescribing budgets influence decisions to utilize the drug treatments, namely: perceptions of treatment availability and effectiveness; resource capacity; carer perceived benefits; and professional ethics. Unequal access to treatment and ethical concerns remain key issues.

Nawwar Swedan1, Kathleen Nicol2, Phylis Moder2, Samir Kahwash21Fellow in Transfusion Medicine, Ohio State University, Columbus, Ohio; 2Department of Laboratory Medicine, Nationwide Children’s Hospital, Columbus, OhioAbstract: We report the case of a rare hemoglobin variant, “Hemoglobin J”, discovered while performing hemoglobin electrophoresis following exchange transfusion of a sickle cell disease patient. It is usual practice in our institution to confirm the hemoglobin S level in sickle cell disease patients after red cell exchange. The patient had received 5 red cell units and the source of this variant was traced back to two of those units. Due to the uncertain clinical impact of this variant, and the lack of specific guidelines, the two donors were deferred from future donations to our institution.Keywords: hemoglobin J, sickle cell disease, transfusion

We present a case of Parkinson’s disease patient whose initial symptoms were sick sinus syndrome and orthostatic hypotension. Our case illustrates difficulties in distinguishing syncope of primary cardiac or neurological origin and highlights the importance of a diagnostic workup including neurological examination.

Spontaneous bilateral femoral neck facture in a renal disease patient is not common. We report a case of 47-year-old female patient with chronic renal failure and on regular hemodialysis for the past 5 years who sustained bilateral impacted femoral neck fracture without history of trauma and injury and refused any surgical intervention. The patient was mobilised on wheel chair one year after the fractures. The cause of the fracture and the literature review of the bilateral femoral neck fracture in renal disease are discussed.Keywords: Chronic renal failure, dialysis, neck of femur fracture

Bowel wall inflammation in Crohn's disease can be the cause of strictures along the small and large bowel. Frequently there is an accompanying prestenotic bowel dilation. This creates stasis of bowel fluids, which can eventually lead to the formation of enteroliths. These are hard dense masses inside the bowel that may be responsible for (sub)obstruction, ulceration and even perforation. The latter is caused by mechanical stress on an already weak and inflamed bowel wall. We present a rare case of a Crohn's disease patient in her early thirties who was seen at the emergency department with acute abdominal pain. Radiographs and CT examination showed the appearance of enterolithiasis. Furthermore, we provide diagnostic and therapeutic options.

The individual oral statement is human story based on experience. The personal experience forms unconsciousness which appears in a form of oral statement by ego that doesn't want to lose existence. Thus, the process which exposes a tormented hearts is the objectification of oneself. Through this step, oral person attains a healing. If this sort of individual oral is accrued, the undeserved personal affairs could be a history. In case of Hansen's disease patient, She could escape from negative understanding about herself and the world. Furthermore, She kept formating her values about meaningful life and future oriented value. Also, She wants to keep a record of her life. She comes to know that what she denied is actually what she should surmount over oral statement. As a result, She could attains a healing for oneself through oral statement. The oral statement made her look into she's problems. Therefore, oral statement is a self-realization. Through this, person could know what the problem is and solution. This research is about only one person, so there is need for more cases and studies. If this sort of individual oral statement is accrued, there could be a curative narration. This can suggest an curative alternative when we suffer from problem of life. The merit of this research is rendering this possibility.

A Parkinson's disease patient with deep brain stimulation (DBS) implantation experienced an acute subdural haematoma (SDH) after a fall. The DBS electrodes and brain parenchyma were shifted. Fortunately, the patient recovered after craniectomy and removal of SDH, and the DBS was re-activated with the same parameters. Patients with DBS implants who suffer a traumatic brain injury do not necessarily incur permanent implant failure; there is every chance that the DBS may continue to work as reported here.

Objective To reflect on the challenges of caring for an elderly ill parent who lives afar and to pronounce the importance of system-wide standards in nursing homes and elderly care. Method Personal memoire in which the author conjures up powerful images of contrasting healthcare systems and the tension of living in two countries. Results The author discusses many aspects of healthcare for the elderly. Some of the pictures depicted include the picture of a gradually declining memory of an Alzheimer's disease patient and the challenges of elderly care. Conclusion There is a value of medical knowledge, an importance of nursing homes designs and regulation, and a significance of simple concepts such as a “do-not-resuscitate” order. Practice implications Care for the elderly can be exhausting physically and emotionally; system-wide changes and standards are important in minimizing its impact.

Agranulocytosis is a rare adverse effect of methimazole. The usual duration of treatment prior to the onset of agranulocytosis is approximately 1 to 4 months, and can be as long as 1 year. Agranulocytosis together with hepatotoxicity is an extremely rare idiosyncratic side effect of methimazole treatment. We present an unprecedented case of a Grave's disease patient who showed a strong reaction to methimazole with obvious agranulocytosis and hepatotoxicity which developed only six days after administration. This case, along with a literature review, is offered with the aim to increase the awareness of physicians of sudden onset agranulocytosis and hepatotoxicity from methimazole.

CD is an immunologic disease of the small intestine which is precipitated by ingestion of wheat gliadin. Most patients carry the HLA-DQ (α1 ∗ 0501,β1 ∗ 0201) (DQ2) heterodimer. We recently reported that a prepoderance of gliadin-specific T cells from the small intestinal mucosa of DQ2-positive CD patients were restricted by this DQ heterodimer. However, a small percentage of CD patients do not carry this DQ heterodimer, and most of them instead carry DQ (α1 ∗ 0301,β1 ∗ 0302) (DQ8). Here we report that a majority of gliadin-specific T cells from the small intestinal mucosa of a DR4,DQ7/DR4,DQ8 heterozygous CD patient are restricted by DQ8. Thus, preferential presentation of gliadin-derived peptides to T cells by the CD-associated DQ2 and DQ8 molecules may be an initial and important immunopathogenic step in CD. Human Immunology 41, 285–291 (1994)

Purpose The aim of the present study was to describe the characteristics and the postoperative results of children diagnosed as having Hirschsprung disease (HD) after the age of 3 years. Methods All patients with HD diagnosed after the age of 3 years in our hospital from 1998 to 2011 were included. Patient characteristics and postoperative results were prospectively registered. Results Eleven children were included. Age at diagnosis was 3.0 to 9.6 years. Ten patients had rectosigmoid disease, whereas 1 had total colonic aganglionosis. Three children were given a diverting ileostomy before the pull-through procedure, and all 3 had ileostomy-related complications. Early postoperative complications were seen in 5 children, of whom 2 had anastomotic leakage. At final follow-up, with a median of 3 years postoperatively, 7 had normal bowel function, 1 had frequent loose stools, and 3 were soiling. Conclusions Early postoperative complications, especially anastomotic leakage, occurred frequently in children with late-diagnosed HD. Therefore, a diverting stoma should be considered in these patients. The long-term functional results were comparable with those seen in children operated on as neonates.

Mild cerebrospinal fluid pleocytosis in a Parkinson’s disease patient with deep brain stimulation.

Echinococcosis is endemic in certain parts of the world, including Turkey. When the pulmonary cyst has characteristic features, it can be easily diagnosed, but when the appearance changes as a result of complications, the cyst may resemble a malignant lesion. We presented a complicated pulmonary hydatid disease patient who was referred to our department for PET–CT, after the detection of 2 lung lesions.

We present a case of a Rendu-Osler-Weber disease patient with recurrent life threatening epistaxis demanding multiple blood transfusions despite of repetitive endoscopic laser and electrocoagulations, endovascular embolisation, septodermoplasty, and long-term intranasal dressings. As alternative treatment modalities repeatedly failed and the patient became almost permanently dependent on nasal dressing, we performed a highly conformal intensity-modulated radiotherapy of the nasal cavity; a total dose of 50 Gy in 2 Gy single fractions was applied. The therapy was very well tolerated, no acute toxicities occurred. Two weeks after the last radiation dose had been applied, the nasal dressing could be removed without problems. Endoscopical control revealed an almost avascular white mucosa without any trace of bleeding spots; previously existing hemangiomas and crusts had disappeared. After a 1-year-follow up, the patient had no significant recurrent epistaxis.

A 15-year-old, woman, Crohn's disease patient, who carried the TPMT *3C heterozygous mutant, complained of alopecia 3 days after starting 6-mercaptopurine (6-MP) and then developed severe myelosuppression 6 weeks after starting 6-MP. The alopecia involved scalp hair only (body hair preserved) and was dominant in the temporal region. Following these side effects, transient remission of Crohn's disease occurred. Myelosuppression due to 6-MP is a rare but life-threatening side effect that is difficult to predict despite continuous monitoring of complete blood cell counts. In the present case, 6-MP-induced alopecia preceded myelosuppression and progressed rapidly as the myelosuppression worsened.

The objectives of this report were to compare Crohn’s disease patients’ assessment of disease activity and its effect on their well-being to their physician’s assessment of the disease activity and the patient’s well-being; and to use existing Crohn’s disease indices in comparing the severity of Crohn’s disease across various indices. The indices included in this study were the National Cooperative Crohn’s Disease Study index, the Harvey and Bradshaw Index, the Oxford Index, the Modified Organisation Mondiale de Gastroentérologie Index, the Cape Town Index, the Bristol Index, and the St Marks Index. The comparison of Crohn’s disease patient self-evaluation and physician evaluation of the patient indicates a significant agreement between patient and physician assessment of disease activity (Χ241.68, P=0.00001). Cohen’s weighted kappa, a chance-corrected coefficient of agreement for nominal scales, was also used to evaluate the quality of agreement between physician and patient assessment of well-being. The weighted kappa (0.2322, P=0.0002) indicates a significant level of agreement.

In April1988, the American Health Assistance Foundation in Rockville, Maryland, provided major funding to establish a registry of persons in South Carolina who have been diagnosed with dementia, particularly Alzheimer's disease (AD). This funding was matched by the state Health and Human Services Finance Commission, and with supplemental funding from the Association of Schools of Public Health, and the Centers for Disease Control. The goals of the registry are as follows: * To collect and report annual prevalence and incidence data; * To assess and to project required health and human services resources; * To study genetic transmission patterns; * To provide a sampling frame for etiologic studies. The first year experience of this project is described, with recommendations for future development.

For the obstructed high-risk Crohn's disease patient, there is increasing evidence that timely surgery of a conservative nature can be performed with good effect. This article deals with the author's views, experience, and bias relating to the procedure of strictureplasty--the "emerging" conservative operation for the high-risk Crohn's patient with chronic bowel obstruction.

This paper reports a case of S. constellatus chorioamnionitis in a pregnant Crohn's disease patient who was taking azathioprine. Chorioamnionitis is a major cause of perinatal morbidity. Azathioprine, an immunosuppressive antimetabolite, is widely used to treat inflammatory bowel disease. Streptococcus constellatus is a Gram-positive bacterium that has not previously been associated with chorioamnionitis. A high index of suspicion for chorioamnionitis and unusual pathogens should be maintained in the management of obstetric patients on immunosuppressive agents.

Dear Sir, We appreciate the interest in our report1 and the comments from Drs. Katsano and Asproudis,2 which allow us to clarify some important issues regarding the probable association of adalimumab and retinopathy in a Crohn's disease patient. First, the characterization of the causality based on the method of estimating the probability of adverse drug reactions (ADR) developed by Naranjo et al.,3 an ADR can be considered as “probable” related to a drug if the overall score is between 5 and 8. In our case the ADR appeared after the suspected drug administration (+ 2 points), alternative causes for the ADR were not found (+ 2 points), and the ADR was confirmed by objective evidence (+ 1 point). Therefore, in our patient, the adverse effect (retinopathy) could be considered as “probably” related to …

Although the molecular basis of sickle cell disease (SCD) is well established, the wide variability in clinical manifestations still puzzles haematologists and clinicians. Recently, SCD started to be considered by different groups as a chronic inflammatory condition, where the inflammatory tendency of each individual could drive more or less severe clinical features. Here we describe a haemoglobin SC disease patient (heterozygous to both HbS and HbC variants) that experienced several vaso-occlusive crises before underwent a successful kidney transplantation. Since then (16 years ago), she is on uninterruped immunosuppressive therapy, and do not experienced any severe vaso-occlusive crisis. Considering SCD associated morbidity as a result of exacerbated immune responses, we suggest that the immunosuppressive therapy directed to the kidney graft maintenance is actually also helping in the control of the chronic inflammatory responses associated to SCD.

A recent case report in the journal described a Gaucher’s disease patient, dangerously infected with salmonella that responded poorly to antibiotic treatment.1 However, use of enzyme replacement with glucosylceramide glucosidase lowered tissue levels of glucosylceramide (GlcCer), and produced a slow but dramatic improvement. The article points out that infection is an important aspect of the genetic disorder. I would like to mention important observations that explain this unfortunate complication and their significance for many patients with infections. Many research studies have shown that a wide variety of bacterial and viral infections involve binding of the organism to a glucosphingolipid in the cell surface. Patients …

Background:Informing patients and families about the diagnosis of Alzheimer’s disease (AD) is a complex ethical and practical issue. This qualitative study explores the psychosocial impact of disclosing a diagnosis of AD on patients and family members.Methods:This study identified 14 patients and their accompanying family members undergoing a multidisciplinary assessment for dementia at an outpatient clinic for AD and related disorders. Of the group, three patients had probable AD and five had possible AD as per NINCDS-ADRDAcriteria. Six patients were not demented as per DSM IIIR criteria. Disclosure of diagnosis occurred, in a family conference, within six to eight weeks of the assessment. Data collection methods included observation of the assessment and the family conference as well as in-depth home interviews with family members and with each patient whenever feasible. The interviews were transcribed verbatim and coded for recurrent themes.Results:A total of 40 individuals across 14 families participated in this study. Only two families chose not to have the patient attend the family conference. The disclosure of a diagnosis of probable AD brought on an experience of relief in three families, marking the end of a lengthy period of confusion about the nature of memory problems. Patients diagnosed with possible AD and their families interpreted how indicative the diagnosis was of the presence of the disease with varying degrees of certainty depending on pre-assessment beliefs about the cause of memory problems. In the group diagnosed as not demented, four patients had complaints of forgetfulness likely related to minor depression. The disclosure of a diagnosis of no dementia did not produce the anticipated relief. Two patients continued to believe their memory problems were caused by the early onset of AD or some other “organic” problem.Interpretation:This study reveals that disclosure of the diagnosis of AD to patients and family members is generally beneficial but that there are variations in the understanding of the diagnostic information, particularly in instances where the assessment results are ambiguous.

Human leukocyte antigen (HLA)-DQA1*0510 has been identified in a Spanish patient diagnosed with celiac disease. DQA1*0510 differs from DQA1*0505/09 by a point mutation at exon 2 producing an amino acid replacement at codon 77 (I>V).

Clinically, the earlier acute vertiginous attacks in Menière's disease and the later deafness appear to constitute a continuum. It is therefore possible that effective treatment of the cause of the acute attacks might prevent the later auditory symptoms. This paper describes biochemical events preceding the acute attacks, and then points to a common factor in the acute and chronic states. If true, this occurrence supports use of intravenous calcium gluconate to abort or cut short an acute attack. Because of the complexities of the situation, it is probable that not every Menière's disease patient will respond to this treatment and a controlled widespread trial is necessary.