Main Clinical Features Of Patients Research Articles

Transcriptomic analysis reveals mitochondrial dysfunction in the pathogenesis of Nager syndrome in sf3b4-depleted zebrafish

Nager syndrome (NS) is a rare acrofacial dysostosis caused by heterozygous loss-of-function variants in the splicing factor 3B subunit 4 (SF3B4). The main clinical features of patients with NS are characterized by facial-mandibular and preaxial limb malformations. The migration and specification of neural crest cells are crucial for craniofacial development, and mitochondrial fitness appears to play a role in such processes. Here, by analyzing our previously published transcriptome dataset, we aim to investigate the potential involvement of mitochondrial components in the pathogenesis of craniofacial malformations, especially in sf3b4 mutant zebrafish. We identified that oxidative phosphorylation (OXPHOS) defects and overproduction of reactive oxygen species (ROS) due to decreased antioxidants defense activity, which leads to oxidative damage and mitochondrial dysfunction. Furthermore, our results highlight that fish lacking sf3b4 gene, primarily display defects in mitochondrial complex I. Altogether, our findings suggest that mitochondrial dysfunction may contribute to the development of the craniofacial anomalies observed in sf3b4-depleted zebrafish.

P370 INCIDENCE AND MAIN CLINICAL CHARACTERISTICS OF MYOCARDITIS IN PIACENZA PROVINCE IN THE LAST FIVE YEARS

Abstract Myocarditis is an inflammatory disease of cardiac muscle caused by a variety of etiologies, myocardial involvement and clinical presentations ranging from chest pain to extreme conditions such as cardiogenic shock or death. The variability in presentation reflects the variability in histological disease severity, etiology, and disease stage at presentation. The diagnosis may be suspected by clinical and noninvasive features and is confirmed by endomyocardial biopsy by established histologic, immunologic, and immunohistochemical criteria. CMR imaging is a valid diagnostic support which can detect important myocarditis features from evidence of inflammatory hyperemia and edema to myocardial scar. Due to its clinical presentation and the absence of a safe sensitive non–invasive diagnostic tool, the frequency of this condition and its specific etiology is often difficult to identify, and because of this, the cause is frequently unknown. Anyway among the infectious etiologies, viruses are the presumed to be the most frequent pathogens. We analyzed the main clinical features of patients who were hospitalized for myocarditis in our province in the past five years. Since 2018, 53 patients received a diagnosis of myocarditis. Mean age was 38, 40 (75%) of them were males. The vast majority of patients underwent CMR as a part of diagnostic work–up and we found lateral wall as the most frequently involved. Almost half of the patients showed oedema as a sign of acute inflammation and 35% had more than one segment affected. Mean ejection fraction was 60%. 22 of them were discharged as having as “idiopathic”, 18 had a viral cause (of which 2 were clearly COVID–related) with gastroenteritis being the most common clinical presentation. Of note, only one case was associated with COVID–19 vaccination. Figure 1 shows different distribution of the cases per year. Of note, we did not observe an increased incidence in the last 3 years and mean age was similar in the years analysed possibly reflecting a limited effect of COVID and COVID–vaccination related incidence in our population.

De Novo Vasculitis after COVID-19 Vaccination.

The coronavirus disease 2019 (COVID-19) pandemic continues to spread around the world. Vaccinations have been administered globally and have been proven to be safe and effective. However, vasculitis has been reported as an adverse event occurring after COVID-19 vaccination. In this review, we analyzed the literature to identify original articles that reported on patients who developed vasculitis following COVID-19 vaccination and summarized their clinical manifestations. PubMed and Web of Knowledge were searched to identify relevant studies. A total of 27 patients who developed vasculitis following COVID-19 vaccination were identified from 21 studies. The involved organs included the skin and kidney. The main clinical features of patients whose skin was affected were papules, maculopapular rashes, and plaques. Most of the patients exhibited small vessel vasculitis and single-organ vasculitis; these were resolved within one month. Patients whose kidneys were affected exhibited vasculitis, including anti-neutrophil cytoplasmic antibody glomerulonephritis and IgA nephritis. Most patients were treated with corticosteroid, rituximab, and cyclophosphamide, and one patient needed hemodialysis. The renal function of most patients was improved or recovered, but one patient needed maintenance dialysis. Vasculitis was rarely reported after COVID-19 vaccine administration. It often manifested as cutaneous small-vessel vasculitis or glomerulonephritis. Notably, when a patient demonstrates hematuria, proteinuria, and acute kidney injury after COVID-19 vaccination, there is a possibility that the patient could have developed vasculitis. Skin-related problems were quickly resolved, while kidney-related problems may progress to chronic kidney disease.

Regulation of Epithelial Sodium Transport by SARS-CoV-2 Is Closely Related with Fibrinolytic System-Associated Proteins.

Dyspnea and progressive hypoxemia are the main clinical features of patients with coronavirus disease 2019 (COVID-19), which is caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Pulmonary pathology shows diffuse alveolar damage with edema, hemorrhage, and the deposition of fibrinogens in the alveolar space, which are consistent with the Berlin Acute Respiratory Distress Syndrome Criteria. The epithelial sodium channel (ENaC) is a key channel protein in alveolar ion transport and the rate-limiting step for pulmonary edema fluid clearance, the dysregulation of which is associated with acute lung injury/acute respiratory distress syndrome. The main protein of the fibrinolysis system, plasmin, can bind to the furin site of γ-ENaC and induce it to an activation state, facilitating pulmonary fluid reabsorption. Intriguingly, the unique feature of SARS-CoV-2 from other β-coronaviruses is that the spike protein of the former has the same furin site (RRAR) with ENaC, suggesting that a potential competition exists between SARS-CoV-2 and ENaC for the cleavage by plasmin. Extensive pulmonary microthrombosis caused by disorders of the coagulation and fibrinolysis system has also been seen in COVID-19 patients. To some extent, high plasmin (ogen) is a common risk factor for SARS-CoV-2 infection since an increased cleavage by plasmin accelerates virus invasion. This review elaborates on the closely related relationship between SARS-CoV-2 and ENaC for fibrinolysis system-related proteins, aiming to clarify the regulation of ENaC under SARS-CoV-2 infection and provide a novel reference for the treatment of COVID-19 from the view of sodium transport regulation in the lung epithelium.

Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations

BackgroundHereditary maculopathy is a group of clinically and genetically heterogeneous disorders. With distinctive clinical features, subtypes of macular atrophy may correlate with their genetic defects.MethodsSeven patients from six families with...

Clinical Characteristics and Risk Factors for Pulmonary Infection in Emergency ICU Patients.

Background Pulmonary infection in the emergency ICUs increases patient morbidity, hospital stay, treatment costs, and the risk of related adverse events. Methods This study included 695 patients admitted to our emergency ICU between December 2019 and March 2021. Medical records of emergency ICU patients were reviewed to collect their clinical data, including antibiotic use, history of tracheostomy, history of mechanical ventilation, presence or absence of underlying disease, history of smoking, alcohol consumption, age, gender, and history of shock. Bacterial cultures were performed. The incidence, main clinical features, main pathogens, and risk factors of pulmonary infection in emergency ICU were analyzed. Results In this study, 69 of the 695 emergency ICU patients (9.93%) developed pulmonary infection. The main clinical features of patients with pulmonary infection included cough and expectoration (97.10%), shortness of breath and chest tightness (95.65%), leukocyte elevation (69.57%), confusion (31.88%), drowsiness (28.99%), persistent fever (27.54%), and nausea and vomiting (10.14%). The main pathogenic bacteria in those with pulmonary infection included Klebsiella pneumoniae (62.32%), Pseudomonas aeruginosa (49.28%), Streptococcus pneumoniae (21.74%), Staphylococcus aureus (39.13%), Candida albicans (7.25%), Pneumococcus pneumoniae (15.95%), Pseudomonas aeruginosa (24.64%), and lung diplococcus inflammatory (13.04%). Univariate analysis showed that there were no significant differences in the occurrence of pulmonary infection with regard to sex, smoking, and alcohol consumption, but there were significant differences with regard to age, basic disease, invasive surgery, and shock. Logistic regression analysis confirmed that age ≥ 80 years, invasive surgery, shock, and basic diseases ≥ 2 were important risk factors for pulmonary infection in emergency ICU patients. Conclusion Considering the clinical features and risk factors for pulmonary infection in the emergency ICU, preventive and control measures are required to minimize its occurrence and ensure good outcomes.

Clinical variables of severe chronic spontaneous urticaria from total IgE standpoint: a retrospective study

Background.Baseline total IgE levels have recently emerged as a prognostic factor for the clinical response to omalizumab in patients with severe chronic spontaneous urticaria (CSU). Objective. To investigate the main clinical features of patients with severe CSU from the standpoint of baseline total IgE. Methods. 153 patients (M/F 52/101; mean age 49,7 years) with severe CSU were studied. Based on IgE levels patients were divided into 5 subgroups and a ROC curve was built to define a threshold level for omalizumab response. Atopic status, thyroid autoimmunity, activation of the coagulation cascade, and response to omalizumab were studied as well. Results. The subgroups did not differ in terms of age and gender. Atopy prevailed in the subgroup showing elevated IgE. Thyroid autoimmunity and elevated D-dimer levels were similarly distributed in the five subgroups. 94 patients showed a prompt response to omalizumab. The likelihood of a prompt response was higher in males (p less than 0.01). In the subgroup showing the lowest IgE levels only 10% responded promptly to the drug; these proportions were 60%, 65%, 81% and 83% in the remaining groups. 66% of those in group A did not respond at all to omalizumab. A threshold IgE level of 18 IU/ml was detected for omalizumab response. Conclusions. Baseline total IgE show a high high prognostic value for omalizumab response with a threshold level of 18 IU/ml. Males seem more responsive to omalizumab. Most patients show a mixed clinical picture where signs of atopic status co-exist with signs of an autoimmune disease.

CT Manifestations and Clinical Characteristics of 1115 Patients with Coronavirus Disease 2019 (COVID-19): A Systematic Review and Meta-analysis

Rationale and ObjectivesWe aimed to assess the prevalence of significant computed tomographic(CT) manifestations and describe some notable features based on chest CT images, as well as the main clinical features of patients with coronavirus disease 2019(COVID-19).Materials and MethodsA systematic literature search of PubMed, EMBASE, the Cochrane Library, and Web of Science was performed to identify studies assessing CT features, clinical, and laboratory results of COVID-19 patients. A single-arm meta-analysis was conducted to obtain the pooled prevalence and 95% confidence interval (95% CI).ResultsA total of 14 articles (including 1115 patients) based on chest CT images were retrieved. In the lesion patterns on chest CTs, we found that pure ground-glass opacities (GGO) (69%, 95% CI 58–80%), consolidation (47%, 35–60%) and “air bronchogram sign” (46%, 25–66%) were more common than the atypical lesion of “crazy-paving pattern” (15%, 8–22%). With regard to disease extent and involvement, 70% (95% CI 46–95%) of cases showed a location preference for the right lower lobe, 65% (58–73%) of patients presented with ≥3 lobes involvement, and meanwhile, 42% (32–53%) of patients had involvement of all five lobes, while 67% (55–78%) of patients showed a predominant peripheral distribution. An understanding of some important CT features might be helpful for medical surveillance and management. In terms of clinical features, muscle soreness (21%, 95% CI 15–26%) and diarrhea (7%, 4–10%) were minor symptoms compared to fever (80%, 74–87%) and cough (53%, 33–72%).ConclusionChest CT manifestations in patients with COVID-19, as well as its main clinical characteristics, might be helpful in disease evolution and management.

SAT-436 CLINICAL AND GENETIC CHARACTERISTICS OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE (ARPKD) PATIENTS FROM OMAN AND PKHD1 FOUNDER MUTATIONS

The Omani population has a high prevalence of rare genetic disorders, and their study provides unique clinical and genetic insights. Autosomal recessive polycystic kidney disease (ARPKD) is one of the leading causes of kidney and liver-associated morbidity and mortality in the country. We aimed to describe the clinical and genetic profile of ARPKD patients from Oman. A group of 75 patients and relatives (40 males and 35 females) from apparently 33 unrelated families, who were referred to the National Genetic Centre in Oman between January 2015 and December 2018, were studied. This included 41 patients with a clinical diagnosis of ARPKD, their parents (n=24) and siblings or relatives (n=10). Genetic analysis of PKHD1 was performed through next generation sequencing (NGS) and Sanger sequencing. A clinical diagnosis was made in 5 patients prenatally, 24 were diagnosed during the infancy period (0-1 year), nine during early childhood (2-8 years) and 3 at later ages (9-13 years). The main clinical features of patients included hypertension, hepatic fibrosis and splenomegaly. 25 patients had documented chronic renal failure at a median age of 3 years. 24 out of 33 families had a family history suggesting an autosomal recessive pattern of inheritance, and there was known consanguinity in 22 families (67%). A molecular genetic diagnosis of ARPKD with biallelic PKHD1 mutations was confirmed in 30 families (n= 38 patients), giving a detection rate of 91%. Three families remained genetically unsolved. In total, only four different PKHD1 missense pathogenic mutations were identified: c.107C>T; (Thr36Met), c.406A>G; (Thr136Ala), c.4870C>T; (Arg1624Trp) and c.9370C>T; (His3124Tyr) located in exons 3, 6, 32 and 58, respectively. The c.406A>G; (Thr136Ala) is a novel missense mutation that was detected homozygously in one family and heterozygously with c.107C>T; (Thr36Met) allele in 5 other families. Overall, the most commonly detected pathogenic allele was c.107C>T; (Thr36Met), which was seen in 24 families. All four PKHD1 mutations were detected in patients from all governorates of the country except, Musandam, Al Wusta and Dhofar. Molecular genetic screening of suspected ARPKD cases produces a highly yield of genetic diagnosis. The four PKHD1 missense mutations may suggest common founder alleles in Omani population and allow cost effective targeted PCR analysis of these specific alleles to be a useful diagnostic tool.

Research progress in treatment of chronic myeloid leukemia patients with imatinib resistance

Chronic myeloid leukemia (CML) is a malignant myeloproliferative neoplasm that occurs in pluripotent hematopoietic stem cells. Pathogenesis of CML is slow, and leukocytosis and splenomegaly are main clinical features of patients with CML. The introduction of tyrosine kinase inhibitor (TKI) imatinib mesylate (IM) has changed the natural progression of CML and significantly improved survival of CML patients. However, with the prolonged application of IM, IM resistance has become a major challenge in the treatment of CML. Many studies are currently working to elucidate the mechanisms of CML resistance and to research and develop new TKI. There is a urgent need to replace new drug targets and new therapeutic strategies for BCR/ABL1 fusion gene in response to IM-resistant CML patients. This article focuses on the development of CML-related TKI and non-TKI latest drugs for IM-resistant CML patients, and describes immunological approaches activating specific T cell responses against CML cells. Key words: Leukemia, myelogenous, chronic, BCR-ABL positive; Receptor protein-tyrosine kinases; Drug resistance, neoplasm; Immunotherapy; Therapeutic uses

Prevalence and clinical and laboratory characteristics of kidney disease in anti-retroviral-naive human immunodeficiency virus-infected patients in South-South Nigeria.

Since the emergence of acquired immune deficiency syndrome (AIDS) about three decades ago, several renal disorders have been reported as common complications of human immunodeficiency virus (HIV) infection. These renal disorders result from diverse etiologies. The aim of this cross-sectional study was to determine the prevalence and clinical and laboratory characteristics of anti-retroviral-naοve HIV-infected patients with impaired kidney disorder in South-South Nigeria. This study was conducted on patients presenting at the University of Benin Teaching Hospital, Benin City in South-South Nigeria for six months. The patients' demographic data and clinical, hematological and biochemical parameters were assessed. Their glomerular filtration rate (GFR) was calculated and the protein excretion was assessed from the protein- creatinine ratio. Data were analyzed using statistical software program SPSS version 15.0. Three-hundred and eighty-three patients with a mean age of 35.39±8.78 years and a male: female ratio of 1:1 were studied; 53.3% had evidence of kidney disorder. The main clinical features in patients with kidney disorder were evidence of fluid retention, urinary symptoms, pallor and encephalopathy. The mean systolic and diastolic blood pressures were 115.33±17.17 and 72.33±14.31 mm Hg, respectively. The mean estimated GFR was 52.5 mL/min/1.73 m 2 . Patients with kidney disorder had higher proteinuria (P=0.001), lower mean CD4 cell count and packed cell volume (P=0.019 and 0.001, respectively). Kidney disorder is a common complication in HIV-infected patients, and they have clinical and laboratory anomalies. Screening of HIV/AIDS patients at the time of diagnosis will facilitate early diagnosis of kidney disorders in them.

Prevalence, clinical and laboratory characteristics of kidney disease in antiretroviral naïve HIV infected patients in South-South Nigeria

Background: Since the emergence of acquired immune deficiency syndrome (AIDS) about three decades ago, several renal disorders have been reported as common complications of the human immunodeficiency virus (HIV) infection. These renal disorders have resulted from diverse aetiologies. The aim of this study was to determine the prevalence, clinical and laboratory characteristics of antiretroviral naive HIV-infected patients with impaired kidney disorder in South-South Nigeria. Methods: This was a cross-sectional study of antiretroviral naive HIV-infected patients presenting at the University of BeninTeaching Hospital (UBTH), Benin City in South-South Nigeria for six months. The patients biodata, clinical,haematological and biochemical parameters were assessed. Their glomerular filtration rate using the six equation ofMDRD and protein excretion was calculated from protein-creatinine ratio. Data was analysed using statistical software program SPSS version 15.0. Results: Three hundred and eighty-three (383) patients with a mean age of 35.39 ± 8.78 years with a male/female ratio of 1:1 were studied. Of these 53.3% had evidence of kidney disorder. The main clinical features in patients with kidney disorder were evidence of fluid retention, urinary symptoms, pallor and encephalopathy. The mean systolic and diastolic blood pressure was 115.33 ± 17.17 and 72.33 ± 14.31 mmHg respectively. The mean estimated glomerular filtration rate (eGFR) was 52.5 ml/minute/1.73mm2. Patients with kidney disorder had worse proteinuria (p = 0.001), lower mean CD4 cell count, and packed cell volume (p = 0.019 and 0.001 respectively). Conclusion: Kidney disorder is a common complication in HIV-infected patients and they have clinical and laboratory anomalies. Screening of HIV/AIDS patients at point of diagnosis will facilitate early diagnosis of kidney disorders in them.

Novel CXCR4-Targeted Therapy to Inhibit Multiple Myeloma Bone Dissemination

Background. Presence of multiple osteolytic lesions is one of the main clinical features of patients with active multiple myeloma (MM), thus suggesting the ability of clonal plasma cells to disseminate from bone to bone. The bone marrow (BM) homing process of MM cells has been shown to be supported by the activation of the CXCR4/CXCL12 axis. Nevertheless, the role of CXCR4 in mediating MM cell bone metastasis, and the role of CXCR4-targeted therapy in inhibiting MM cell dissemination from bone-to-bone has not been previously reported.Methods. We dissected the in vivo functional relevance of CXCR4 in mediating MM cell dissemination, tumor growth and survival, by using gain- and loss-of function approaches. Tumor growth was monitored by bioluminescence imaging (BLI) and MM cell homing and engraftment within the BM niches was evaluated by performing intravital confocal microscopy. CXCR4-oeverexpressing (CXCR4+) MM cells were tested in vivo using a model of bone-to-bone dissemination. Empty vector or CXCR4+ cells were loaded into murine femurs and subsequently implanted s.q. into recipient mice. The ability of MM cells to disseminate from the implanted bone to the host bones was evaluted by flow cytometry and immunohistochemistry (IHC; CD138; hematoxylin-eosin) on the harvested host bones. Modulation of EMT-related genes (twist, snail, slug, E-cadherin, vimentin) was evaluated ex vivo by qRT-PCR. A novel anti-CXCR4 monoclonal antibody (BMS-936564) was tested both in vivo and in vitro to define the possible role in modulating MM cell dissemination and growth.Results. CXCR4-overexpression led to changes in actin cytoskeleton reorganization of MM cells with protrusion of cell pseudopodia, compared to empty vector-transfected cells, sustained by modulation of EMT-related markers, as shown by up-regulation of Slug, Snail and Twist, together with down-regulation of E-cadherin, in CXCR4-overexpressing (CXCR4+) MM.1S cells, compared to empty vector-transfected cells. CXCR4+ MM cells presented with enhanced invasive properties, compared to control cells. These findings were next recapitulated in vivo using an in vivo model of MM cell dissemination: CXCR4+ MM cells presented with higher ability to metastasize from bone to bone compared to control cells, as confirmed on harvested host femurs by using IHC and flow cytometry. Lower expression of human (h)-E-cadherin, and higher mRNA expression of h-Twist, h-Snail, h-Slug was confirmed within the BM of the host femurs. We next tested the novel monoclonal antibody, anti-CXCR4 (BMS-936564), in vivo. BMS-936564 exerted an anti-MM activity in situ, within the s.q. implanted bones; and also reduced MM cell dissemination from the implanted bone to the host bone. We examined whether BMS-936564 might have modulated EMT-related genes in the MM cells metastasized to the host bones, and found higher mRNA expression of human (h)-E-cadherin, together with reduced mRNA expression of h-Twist, h-Snail, h-Slug, h-vimentin and h-CXCR4 in the BM cells harvested from the host bones of mice treated with BMS-936564. Similar findings were confirmed in a model of breast cancer in vivo. CXCR4 silencing in MM cells led to inhibition of MM cell homing to the bone marrow, as shown by using intra-vital confocal microscopy and inhibition of MM tumor growth in vivo, as shown by BLI. Prolonged survival was documented in those mice that were injected with CXCR4-silenced MM cells compared to control mice injected with scramble probe-infected MM cells.Conclusion. CXCR4 enhanced the acquisition of an EMT-like phenotype in MM cells, leading to higher bone-to-bone dissemination of clonal plasma cells in vivo; while CXCR4-silencing in MM cells led to inhibited tumor growth and improved survival. BMS-936564 led to inhibited MM cell bone-to-bone dissemination, supported by suppression of the CXCR4-driven EMT-like phenotype. These studies suggest that targeting CXCR4 may represent a novel therapeutical strategy to prevent MM cell dissemination. DisclosuresCardarelli:BMS: Employment. Cohen:BMS: Employment. Kuhne:BMS: Employment. Ghobrial:Celgene: Membership on an entity’s Board of Directors or advisory committees; BMS: Membership on an entity’s Board of Directors or advisory committees, Research Funding; Onyx: Membership on an entity’s Board of Directors or advisory committees; Millennium/Takeda: Membership on an entity’s Board of Directors or advisory committees.

Evolution of Thyroid Function in Preterm Infants Detected by Screening for Congenital Hypothyroidism

To determine the evolution of congenital hypothyroidism in preterms and the clinical features of permanent forms. We retrospectively evaluated 24 preterm children detected by newborn screening for congenital hypothyroidism: first screening with blood-thyroid stimulating hormone cutoff ≥10 mU/L and second screening with blood-thyroid stimulating hormone cutoff ≥5 mU/L. After the age of 2years, patients with eutopic thyroid had diagnostic reevaluations, including thyroid function testing and thyroid ultrasonography after L-thyroxine therapy withdrawal. The first screening identified 21.7% of patients with thyroid stimulating hormone elevation, and the second screening identified 73.9% of patients. One patient (4.4%) was identified with a third screening test; 21 patients had an eutopic thyroid and 3 patients a thyroid dysgenesis. At reevaluation, 5 patients (23.8%) showed permanent hypothyroidism (serum-thyroid stimulating hormone [s-TSH] >10 mU/L) resulting in the need to reintroduce therapy, 5 patients (23.8%) showed persistent hyperthyrotropinemia (s-TSH 5-10 mU/L), and 11 infants (52.4%) transient hypothyroidism (s-TSH <5 mU/L). The main clinical features of patients affected by permanent hypothyroidism were 1 case of assisted reproduction, 2 twins, 2 small for gestational age, 1 maternal thyroiditis, and 2 patients with malformations/syndromes. Premature birth is a significant risk for congenital hypothyroidism with eutopic thyroid. In preterm infants, the evolution of congenital hypothyroidism remains difficult to predict. Our data emphasizes the high incidence of transient hypothyroidism in preterm infants, and the importance of diagnostic reevaluation to determine the definitive diagnosis.

Caracterización clínica de los casos de enfermedad meningocóccica por serogrupo W135 confirmados durante el año 2012 en Chile

During 2012 in Chile, there were 60 cases of serogroup W135 meningococcal disease, which accounts for 57.7% of identified serogroup cases. To describe main clinical features of patients with serogroup W135 meningococcal disease confirmed in 2012. Descriptive study of case series based on retrospective review of medical records. Male patients represented 61.7% and 46.7% were children under 5 years. At first clinical attention, 3.4% of patients were suspected of meningococcal disease, while 83.3% had meningococcemia as final diagnosis. Also at first attention, the most common symptoms or clinical signs were fever ≥ 38.0° C (60.3%), cold symptoms (52.5%), and nausea or vomiting (46.7%). Meningeal signs had a low frequency (8.7%). Diarrhea was the second most common symptom found among deceased patients (55.6%) and statistically higher than survivors (26.8%; p = 0.034). Six cases reported with sequelae: limb amputation, hearing loss or neurological damage, and mortality was 31.7%. In 2012, serogroup W135 meningococcal disease reported high mortality, atypical clinical presentation, low initial meningococcal disease diagnosis, and a high number of cases with poor clinical course.

A severe course of Cronkhite-Canada syndrome and the review of clinical features and therapy in 49 Chinese patients

We describe a severe case of Cronkhite-Canada syndrome and review the clinical features and therapy in 49 Chinese patients. A 67-year-old man who underwent severe chronic diarrhea had typical clinical manifestations of hyperpigmentation, hair loss, and dystrophic changes in the fingernails. Although sufficient nutrition support and other therapies reported in the literature were provided, the patient died of systemic failure one year later. Cronkhite-Canada syndrome is characterized by generalized gastrointestinal polyps associated with hyperpigmentation, hair loss, and onycholysis. Anemia, positive stool occult blood, serum electrolyte disturbances, and low serum proteins are the main clinical features of patients with Cronkhite-Canada syndrome. Most patients were diagnosed by esophagogastroduodenoscopy and/or colonoscopy, and polyps were found in the entire alimentary tract, except the notable exception of the esophagus. The polyp-like samples of mucosa, hyperplasia, and adenoma were characterized by acute/chronic inflammation. Four cases were complicated with cancer. The treatment of Cronkhite-Canada syndrome includes symptomatic and support therapy, administration of corticosteroids, antibiotics and acid inhibitors, therapeutic endoscopy, and surgery. While the mortality rate was reported as 47.3% (9/19), some patients may live a long life with controlled symptoms.

Descriptive study of cholelithiasis with chemical constituents analysis of gallstones from patients living in Baghdad, Iraq

The aim of this study was to describe the main clinical features of patients with cholelithiasis, and chemical analysis of stone in relevance to development of gallstone formation. The total number of patients with gallstone in this study was 75 (66 females and 9 males). The ratio of females: males was (7.3:1), this high ratio may be due to multiple factors, including high percentage of multiparity (63.64%), the use of contraceptives (46.97%), family history (44%), obesity (53.3%) and sedentary life style (non-workers) (72%). The stones were classified into cholesterol, pigment and mixed stones. Cholesterol stone was the most prevalent type of stone; its percentage was 49.3 greater than mixed and pigment stones which had percentages of 33.3 and 17.3, respectively. Cholesterol stone showed significantly higher cholesterol content (P 0.05)] than mixed stones. Calcium content in pigment stone was significantly higher (P 0.05)] than mixed stones. Inorganic phosphate content in cholesterol stones was significantly higher (P < 0.05) than mixed and pigment stones. The content of inorganic phosphate in mixed stones was insignificantly higher than pigment stones. In conclusion, cholesterol stone was the most common type of stone but interestingly, there was a high ratio of females: males, suggesting efforts to reduce all variable risk factors which lead to cholelithiasis, especially among females.   Key words: Cholelithiasis, chemical constituents, gallstones, Baghdad.

Serum prohepcidin levels are potential prognostic markers in patients with multiple myeloma

Prohepcidin is the prohormone of hepcidin. Anemia is one of the main clinical features in patients with multiple myeloma (MM) and hepcidin may be associated with iron homeostasis in these patients. However, the clinical significance of prohepcidin is not fully understood. In this retrospective study, we measured serum prohepcidin levels using an immunoassay technique to study its clinical significance in 39 MM patients. Serum prohepcidin levels in patients with MM were weakly correlated with alkaline phosphatase (ALP) levels (r=0.32, P=0.048), calculated by Spearman’s rank correlation, but not with other clinical data, including hemoglobin, serum iron or ferritin. In addition, patients with severe renal insufficiency [creatinine clearance (CCr) <50 ml/min] had significantly higher prohepcidin levels compared with patients with mild or no renal insufficiency (CCr ≥50 ml/min, P=0.047). In contrast, low serum prohepcidin levels less than 110 ng/ml were an independent predictor of poor overall survival [hazard ratio (HR), 5.29; 95% confidence interval (CI), 1.65–17.03] in addition to serum creatinine levels of at least 2 mg/dl (HR, 5.32; CI, 1.10–25.64), serum calcium (HR, 3.53; CI, 1.01–12.33) and ECOG performance status grade 4 (HR, 4.15; CI, 1.32–13.09) in the multivariate analysis using Cox proportional hazards model. In the subset of 31 MM patients with CCr ≥50 ml/min, low serum prohepcidin (HR, 5.65; CI, 1.60–19.95) was an indicator of poor prognosis in multivariate analysis. These results indicate that serum prohepcidin levels may be associated with ALP and renal function but not iron homeostasis, in MM patients. In addition, lower serum prohepcidin levels are potential independent indicators of poor overall survival in MM patients regardless of renal function.

A clinical and genetic study of 33 new cases with early-onset absence epilepsy

To investigate the electroclinical features and the outcome of patients with typical absences starting before the 3 years of life. We reviewed the clinical data of patients with absences started before 3 years observed over a 15-year period. Mutation analysis of SLC2A1 (GLUT-1) gene was performed when possible. Their clinical features were compared with those of subjects with a diagnosis of childhood absence epilepsy (CAE). Among 33 children with absence epilepsy starting before 3 years of life, there were 20 boys and 13 girls. Mean seizure onset was at 28.0 ± 8.3 (range: 8-36) months of life. Two children displayed borderline intellectual functioning at long-term follow-up. Twenty-eight (85%) patients showed excellent response to therapy. Three subjects evolved into a different form of idiopathic generalized epilepsy (IGE). No SLC2A1 mutation was identified in 20 (60.6%) patients tested. The main clinical features of patients with early-onset absences did not differ from those of CAE except for increased prevalence of males (p=0.002) and longer treatment duration (p=0.001) in the former. Strong similarities in the electroclinical features and outcome between children with early-onset absences and those with CAE support the view that these conditions are part of the wide spectrum of IGE.

Delirious behavior in influenza is associated with a reversible splenial lesion

Delirious behavior is one of the main clinical features in patients with clinically mild encephalitis/encephalopathy with a reversible splenial lesion. On the other hand, it has been reported that more than 10% of patients with influenza in Japan develop delirious behavior. Magnetic resonance imaging (MRI) studies in patients with influenza-associated delirious behavior were examined to determine how often a reversible splenial lesion is associated with this symptom. All patients who presented to Kameda Medical Center between November 2007 and March 2008 with delirious behavior associated with influenza were studied using MRI and EEG. Of the 370 patients with influenza, 11 had delirious behavior, lasting for less than 12 h. MRI revealed a reversible splenial lesion with homogenously reduced diffusion in 5 patients. Transient EEG abnormalities (occipital slow waves during wakefulness) were observed in 4 of the 9 patients examined. A reversible splenial lesion with reduced diffusion should be considered as an underlying condition in patients with delirious behavior associated with influenza.