Unicryptal gallbladder adenomas in a patient with Gardner's syndrome

Gardner's syndrome occurs when mutation of the adenomatous polyposis coli gene is associated with extra-intestinal manifestations in addition to colorectal adenomas. Only eleven cases of gallbladder adenoma in Gardner's syndrome have been previously reported in the literature. We report a case of Gardner's syndrome in which multiple adenomas are associated with unicryptal adenomas.     

Dental Findings in Cornelia De Lange Syndrome

Cornelia de Lange syndrome is a congenital disease, basically characterized by psychomotor retardation associated with a series of malformations, including mainly skeletal, craniofacial deformities together with gastrointestinal and cardiac malformations. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of this syndrome. We actually want to present the case of a 10-year-old patient, who was admitted to our clinic for dental pain. The patient had the symptoms of Cornelia de Lange syndrome. During the oral examination of this patient, the patient was found to have the typical symptoms of Cornelia de Lange syndrome, such as micrognathia and delayed eruption in conjunction with the symptoms of the Hutchinson''s syndrome, which had never been reported before.     

New diagnostic algorithm for detection of covert Bow Hunter's Syndrome

Bow hunter''s syndrome (BHS) should not be overlooked as a cause of cerebral infarction in the posterior circulation. However, covert BHS, which does not impair blood flow with simple rotation but only at certain angles, may make the diagnosis of BHS difficult. We propose a new algorithm to detect BHS or covert BHS. We recommend that BHS and covert BHS be detected by noninvasive duplex ultrasonography, which will allow for appropriate treatment.     

Discoloration of Provisional Restorations after Oral Rinses

Purpose: Oral rinses are widely used to promote periodontal health with provisional restorations during the interim period. The aim of this study was to compare the discoloration of provisional restoration materials with different oral rinses.Material and Methods: A total of 140 disc-shaped specimens (shade A2) (10 mm x 2 mm) were prepared from one PMMA-based (TemDent Classic^®) and three different bis-acrylic-based (Protemp II^®, Luxatemp^® and Fill-In^®) provisional restoration materials (n=7). The color values (L*, a*, and b*) of each specimen were measured before and after exposure with a colorimeter, and the color changes (∆E) were calculated according to the CIE L*a*b* system. The specimens were immersed in each of the 4 oral rinses (alcohol-containing mouthwash, chlorhexidine, benzydamine HCl, benzydamine HCl and chlorhexidine) twice a day for 2 minutes. After 2 minutes of immersion in the oral rinses, the specimens were immersed in artificial saliva. The specimens were exposed to the oral rinses and the artificial saliva for 3 weeks. Two-way ANOVA, the Bonferroni test and the paired sample t-test were used for statistical analyses (p<0.05).Results: Comparison of the discoloration from the oral rinses after immersion for three weeks revealed no significant differences (p>0.05). The lowest color change was observed in PMMA-based Temdent in all oral rinses (p<0.05). There were no significant differences between the bis-acryl composites after immersion in saliva or the mixture of benzydamine HCl and chlorhexidine and the alcohol-containing mouthwash for 3 weeks (p>0.05). After immersion in chlorhexidine, the color change values of Protemp II and Fill-in showed significant differences (p=0.018). Protemp II also showed less discoloration than the other bis-acryl composites, and this color change was statistically significant (p <0.05). For all oral rinses, the L* value decreased while b* values increased, and this color change was found to be statistically significant (p <0.05). A* values were found to be significantly higher with oral rinses (p<0.05), except Protemp II immersed in benzydamine HCl or alcohol-containing mouthwash.Conclusions: The type of the oral rinse did not affect the discoloration process. For long-term esthetic results, choosing MMA-based materials for provisional restorations appears to be more effective.     

The population prevalence of Down's syndrome in England and Wales in 2011

There is uncertainty over the population prevalence of people with Down''s syndrome in England and Wales. This study aimed to estimate the population prevalence of Down''s syndrome in England and Wales in 2011. A meta-analysis of published survival rates of people with Down''s syndrome from 1938 to 2010 was conducted and the results were applied to the estimated numbers of babies born with Down''s syndrome since 1938 in England and Wales. An estimated 37 090 people had Down''s syndrome in England and Wales in 2011, a population prevalence of 0.66 per 1000 people; 650 under 1, 2673 aged 1–5, 7115 aged 5–18, 12819 aged 19–40, 10 626 aged 41–55 and 3207 aged 56 and older. The average life expectancy for babies with Down''s syndrome born in 2011 was 51 years and the median life expectancy was 58 years. This study provides clarity on the number of people with Down''s syndrome in England and Wales. Owing to sudden increases in the survival of babies with Down''s syndrome in the 1950s there are a large proportion of people with Down''s syndrome who are in their 40s. These people have an increased risk of developing dementia in the future and services should be aware of their potential needs.     

Waldenstrom's macroglobulinemia associated with Hodgkin's lymphoma: a case report

Waldenstrom''s macroglobulinemia/lymphoplasmacytic lymphoma (WM/LPL) is a low-grade B-cell non-Hodgkin''s lymphoma with an indolent clinical course. Higher-grade non-Hodgkin lymphoma (NHL) and therapy-related myelodysplasia/acute leukemia (t-MDS/AML) have been reported in patients with WM/LPL in previous studies. However, only two cases with WM/LPL were reported to develop to Hodgkin lymphoma (HL). Here, we report the first case of WM/LPL who developed classical HL simultaneously 3 years after initial nucleoside analog-based chemotherapy.     

Therapeutic experience of Bing-Neel Syndrome associated with Waldenstrom's macroglobulinemia

Waldenstrom's macroglobulinemia is an uncommon low-grade B-cell lymphoproliferative disorder in which monoclonal immunoglobulin M is produced. Neurological symptoms due to hyperviscosity are frequent manifestations of Waldenstrom's macroglobulinemia. However, central nervous system infiltration by plasmacytoid lymphocytes (Bing-Neel syndrome) has only rarely been reported. We report a case of a 51-yr-old woman suffering from Waldenstrom's macroglobulinemia who complained of persistant headache. Brain magnetic resonance imaging revealed an extra-axial soft tissue mass along the left cavernous sinus, left tentorium, right tentorium, and falx cerebri. A stereotactic biopsy of dural tissue from the falx was performed and showed plasmacytoid lymphocyte infiltration. The patient became symptom- free with irradiation of the whole brain followed by chemotherapy with fludarabine.     

Lemmel's Syndrome,an Unusual Cause of Abdominal Pain and Jaundice by Impacted Intradiverticular Enterolith: Case Report

Duodenal diverticula are detected in up to 27% of patients undergoing upper gastrointestinal tract evaluation with periampullary diverticula (PAD) being the most common type. Although PAD usually do not cause symptoms, it can serve as a source of obstructive jaundice even when choledocholithiasis or tumor is not present. This duodenal diverticulum obstructive jaundice syndrome is called Lemmel''s syndrome. An 81-yr-old woman came to the emergency room with obstructive jaundice and cholangitis. Abdominal CT scan revealed stony opacity on distal CBD with CBD dilatation. ERCP was performed to remove the stone. However, the stone was not located in the CBD but rather inside the PAD. After removal of the enterolith within the PAD, all her symptoms resolved. Recognition of this condition is important since misdiagnosis could lead to mismanagement and therapeutic delay. Lemmel''s syndrome should always be included as one of the differential diagnosis of obstructive jaundice when PAD are present.

Graphical Abstract

相似文献   

Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities

In all, 80% of antenatal karyotypes are generated by Down''s syndrome screening programmes (DSSP). After a positive screening, women are offered prenatal foetus karyotyping, the gold standard. Reliable molecular methods for rapid aneuploidy diagnosis (RAD: fluorescence in situ hybridization (FISH) and quantitative fluorescence PCR (QF-PCR)) can detect common aneuploidies, and are faster and less expensive than karyotyping.In the UK, RAD is recommended as a standalone approach in DSSP, whereas the US guidelines recommend that RAD be followed up by karyotyping. A cost-effectiveness (CE) analysis of RAD in various DSSP is lacking. There is a debate over the significance of chromosome abnormalities (CA) detected with karyotyping but not using RAD. Our objectives were to compare the CE of RAD versus karyotyping, to evaluate the clinically significant missed CA and to determine the impact of detecting the missed CA. We performed computer simulations to compare six screening options followed by FISH, PCR or karyotyping using a population of 110 948 pregnancies. Among the safer screening strategies, the most cost-effective strategy was contingent screening with QF-PCR (CE ratio of $24 084 per Down''s syndrome (DS) detected). Using karyotyping, the CE ratio increased to $27 898. QF-PCR missed only six clinically significant CA of which only one was expected to confer a high risk of an abnormal outcome. The incremental CE ratio (ICER) to find the CA missed by RAD was $66 608 per CA. These costs are much higher than those involved for detecting DS cases. As the DSSP are mainly designed for DS detection, it may be relevant to question the additional costs of karyotyping.     

Claude's syndrome associated with neurocysticercosis

Claude's syndrome is a distinctive brainstem syndrome characterized by ipsilateral third cranial nerve palsy with contralateral hemiataxia and is due to an intrinsic or extrinsic lesion in the midbrain. We report a case of Claude's syndrome caused by neurocysticercosis infection. A 68 year-old Asian man was admitted to our hospital because of ataxia, left ptosis, and diplopia. Brain magnetic resonance imaging (MRI) showed a cystic lesion in the midbrain, which was surrounded by ring enhancement and peripheral edema. Neurocysticercosis infection was diagnosed by the cerebral spinal fluid study. The patient was treated with albendazole and steroids. A follow-up brain MRI three months later demonstrated the disappearance of a surrounding brain edema and rim enhancement. The most common cause of Claude's syndrome is cerebrovascular disease and malignancy. However, there is no report caused by neurocysticercosis infection. Therefore, if we encounter Claude's syndrome, we should consider neurocysticercosis infection as one of the etiologic factors.     

Expression of cytokines,chemokines and other effector molecules in two prototypic autoinflammatory skin diseases,pyoderma gangrenosum and Sweet's syndrome

Pyoderma gangrenosum (PG) and Sweet''s syndrome (SS) are two inflammatory skin diseases presenting with painful ulcers and erythematous plaques, respectively; both disorders have a debilitating clinical behaviour and PG is potentially life-threatening. Recently, PG and SS have been included among the autoinflammatory diseases, which are characterized by recurrent episodes of sterile inflammation, without circulating autoantibodies and autoreactive T cells. However, an autoinflammatory pattern clearly supporting this inclusion has never been demonstrated. We studied 16 patients with PG, six with SS and six controls, evaluating, using a sandwich-based protein antibody array method, the expression profile of inflammatory effector molecules in PG, SS and normal skin. The expressions of interleukin (IL)-1 beta and its receptor I were significantly higher in PG (P = 0·0001 for both) and SS (P = 0·004–0·040) than in controls. In PG, chemokines such as IL-8 (P = 0·0001), chemokine (C-X-C motif) ligand (CXCL) 1/2/3 (P = 0·002), CXCL 16 (P = 0·003) and regulated upon activation normal T cell expressed and secreted (RANTES) (P = 0·005) were over-expressed. In SS, IL-8 (P = 0·018), CXCL 1/2/3 (P = 0·006) and CXCL 16 (P = 0·036) but not RANTES were over-expressed, suggesting that chemokine-mediated signals are lower than in PG. Fas/Fas ligand and CD40/CD40 ligand systems were over-expressed in PG (P = 0·0001 for Fas, P = 0·009 for Fas ligand, P = 0·012 for CD40, P = 0·0001 for CD40 ligand), contributing to tissue damage and inflammation, while their role seems to be less significant in SS. Over-expression of cytokines/chemokines and molecules amplifying the inflammatory network supports the view that PG and SS are autoinflammatory diseases. The differences in expression profile of inflammatory effectors between these two disorders may explain the stronger local aggressiveness in PG than SS.     

Recurrent syncope and hypocalcaemic cardiomyopathy as manifestations of Fahr's syndrome

In our report we would like to present a case of a 60-year-old patient with epileptic seizures, affective disturbances, only mild neurocognitive disorders and cardiomyopathy. A female patient was taken to the internal ward with a tentative diagnosis of recurrent syncope. Laboratory results disclosed severe hypocalcaemia, hypoparathyroidism, and hypothyroidism. An echocardiogram revealed left ventricle systolic dysfunction. Computed tomography revealed massive intracranial calcifications typical for Fahr''s syndrome. Our patient demonstrated only mild neurological and psychiatric symptoms, but developed hypocalcaemic heart failure. It is possible that some cases of Fahr''s syndrome remain undiscovered, particularly patients taken to internal wards with mild neurological or psychiatric signs.     

Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II

Autoimmune polyendocrine syndrome Type II (APS II), also known as polyglandular autoimmune syndrome Type II or Schmidt syndrome, is constellations of multiple endocrine gland insufficiencies. It is a rare, but most common of the immunoendocrinopathy syndrome. It is characterized by the obligatory occurrence of autoimmune Addison''s disease in combination with thyroid autoimmune diseases and/or Type I diabetes, hypogonadism, hypophysitis, myasthenia gravis, vitiligo, alopecia, pernicious anemia, and celiac disease. Here, we report a case of 38-year-old female patient presented with shock, further diagnosed to have APS II.     

Fatal Cerebral Hemorrhage in a Patient with CD19-positive IgM-producing Aggressive Plasma Cell Myeloma, Hyperviscosity Syndrome and Cryoglobulinemia

IgM plasma cell myeloma (PCM) is a rare entity, and CD19 positivity is found in only 1–4% of PCM. Here we report a unique case of IgM PCM, in which the plasma cells are positive for CD19. Clinically, the patient presented with hyperviscosity syndrome, mimicking the clinical manifestation of Waldenstrom''s macroglobulinemia. In addition, the IgM para-protein from the patient behaved like cryoglobulins, which interfered with some of the laboratory measurements and resulted in erroneous platelet count, mean platelet volume, and serum IgM level. Despite chemotherapy, the PCM persisted and progressed to plasma cell leukemia, and the patient died of a left frontal hematoma with widespread cerebral hemorrhage extending from left lateral ventricle, third ventricle, fourth ventricle, to cisterna magna. This case represents the first CD19+ IgM-producing PCM and the second case of brain hemorrhage due to plasma cell myeloma/leukemia.     

Sirenomelia (symelia apus) with Potter's syndrome in connection with gestational diabetes mellitus: a case report and literature review

We report one case of a fetus of sirenomelia sequence with Potters syndrome which showed oligohydramnios and symelia apus. The infant showed absent urinary tract and external genitalia, the legs were fused by skin and had separate bones associated with Potter's syndrome. The mother had a history of gestational diabetes mellitus.     

Caroli's syndrome with autosomal recessive polycystic kidney disease in a two month old infant

Caroli's syndrome is a rare congenital disorder that involves intrahepatic bile duct ectasia and congenital hepatic fibrosis, frequently seen with concomitant autosomal recessive polycystic kidney disease (ARPKD). Literature on infants with ARPKD is rare. Here, we present a case of a two month old boy who was diagnosed with Caroli's syndrome and ARPKD.     

Adults with Down''s syndrome: the prevalence of complications and health care in the community

BACKGROUND: Individuals with Down's syndrome are predisposed to a variety of medical conditions which can impose an additional, but preventable, burden of secondary disability. Although there are guidelines for health checks and medical management of children with Down's syndrome, the needs of adults are relatively neglected. AIM: To determine the prevalence of common medical problems in adults with Down's syndrome, and to assess current practice regarding medical surveillance of these patients. DESIGN OF STUDY: Detailed notes analysis. SETTING: Data were obtained from the primary care records of adults with Down's syndrome living in the Newcastle upon Tyne and Gateshead areas. METHOD: Case notes were reviewed to obtain details regarding complications and to determine the frequency of medical surveillance of individuals with Down's syndrome. RESULTS: Complications such as hypothyroidism, celiac disease, and obesity occur more frequently in adults with Down's syndrome than previous paediatric prevalence studies suggest. Surveillance of common complications that occur in individuals with Down's syndrome is infrequent. In this study, 48% of adults with Down's syndrome had not seen a doctor in the previous 12 months and 33% had not had a medical assessment in the previous 3 years. CONCLUSION: Many individuals with Down's syndrome do not have access to regular healthcare checks, despite the high frequency of common medical complications in adult life. Debate regarding the practicality and relevance of introducing regular health checks is warranted.     

Attenuation of neuropsychiatric symptoms and caregiver burden in Alzheimer's disease by motor intervention: a controlled trial

OBJECTIVE:

To analyze the effects of motor intervention on the neuropsychiatric symptoms of Alzheimer''s disease and on the caregivers'' burden.

DESIGN:

This is a controlled trial evaluating the effects of a motor intervention program on the neuropsychiatric symptoms.

SETTING:

The intervention was performed on community patients from two university centers specializing in physical exercise for the elderly.

SUBJECTS:

Patients with Alzheimer''s disease were divided into two groups: sixteen received the motor intervention and sixteen controls (five controls were excluded because of clinical intercurrences).

INTERVENTIONS:

Aerobic exercises (flexibility, strength, and agility) and functional balance exercises were conducted over six months for 60 minutes three times per week.

MAIN MEASURES:

Psychopathological features of patients were evaluated with the Neuropsychiatric Inventory and Cornell Scale for Depression in Dementia. Caregivers were evaluated using the Neuropsychiatric Inventory-Distress and Burden Interview. A two-way analysis of variance (ANOVA) was applied to observe interactions (pre- vs. post-intervention; participants vs. controls).

RESULTS:

Patients from the intervention presented a significant reduction in neuropsychiatric conditions when compared to controls (Neuropsychiatric Inventory: F∶11.12; p = 0.01; Cornell Depression scale: F∶11.97; p = 0.01). The burden and stress of caregivers responsible for patients who participated in the intervention significantly decreased when compared to caregivers responsible for controls (Neuropsychiatric Inventory-Distress: F: 9.37; p = 0.01; Burden Interview: F: 11.28; p = 0.01).

CONCLUSIONS:

Aerobic exercise was associated with a reduction in the neuropsychiatric symptoms and contributed to attenuate the caregivers'' burden. However, the researchers were not blinded to the patient''s intervention status, which constitutes an important limitation of this study.