Diagnostik des Williams-Beuren-Syndroms

Zusammenfassung Fragestellung: Die Diagnose des Williams-Beuren-Syndroms (WBS) wird durch die klinische Variabilit?t erschwert. Daher sollen der diagnostische Wert sowohl des von Preus aufgestellten klinischen Scores als auch der Elastingenhemizygotie geprüft und miteinander verglichen werden. Methodik: Bei 13 Kindern mit Verdacht auf WBS wurden der Preus-Score erhoben und eine Fluoreszenz-in situ-Hybridisierungs-Analyse des Elastingens sowie eine Chromosomenanalyse durchgeführt. Ergebnisse: Neun der 13 Patienten zeigten eine Deletion eines Elastingens bei normalem Karyotyp. Zwei Patienten wiesen bei normaler Elastingendosis eine Chromosomenaberration auf. Der Preus-Score lag bei allen Patienten mit Elastindeletion >6 und war damit hoch positiv. Bei den übrigen Kindern wurde ein Preus-Score von 0,18; 0,37, 1,00 und 6,4 ermittelt. Schlu?folgerung: Bei allen Patienten mit WBS lagen in dieser Studie eine Elastingendeletion und ein hoch positiver Preus-Score vor. Ein positiver Preus-Score wurde jedoch auch bei Patienten mit Chromosomenaberrationen ermittelt. Unter Berücksichtigung dieser Ergebnisse und der Daten aus der Literatur sollte daher die Diagnose Wiliams-Beuren-Syndrom nur unter Vorbehalt gestellt werden, wenn keine Elastingendeletion nachweisbar ist. Da aber bisher unbekannte Mutationen bei den wenigen Patienten ohne Elastingendeletion denkbar sind, kann ein WBS auf molekularer Ebene nicht mit letzter Sicherheit ausgeschlossen werden. Bei diesen Patienten k?nnte der Preus-Score zur klinischen Diagnose beitragen. Setzt man für die Diagnose eines WBS im Preus-Score einen Endsummenwert von >1 voraus, so wird eine Sensitivit?t von 100% bei einer Spezifit?t von 92% erreicht.      

Telescopic Examination of the mastoid Cavity

Otoendoscopy enables viewing of different angles of the tympanomastoid area and approach to them for better prognosis. A comparative study of post-operative mastoid cavities has been done using the Hopkin’s rod telescope, Otoscope and microscope. Various procedures have also been done successfully on the mastoid cavity using the telescope on an outdoor basis.     

Tumours of the parapharyngeal space

A series of 14 parapharyngeal tumours has been studied with regard to their symptology, pre-operative evaluation and surgical management. High resolution computed tomography is now the best initial diagnostic study because it helps to determine the size and extent of the tumour, differentiate tumours of parotid and extraparotid origin, demonstrate degree of tumour vascularity, separate benign from malignant lesions, plan the surgical approach and predict prognosis.     

Childhood obesity increases duration of therapy during severe asthma exacerbations.

OBJECTIVES: Childhood obesity contributes to a wide array of medical conditions, including asthma. There is also increasing evidence in adult patients admitted to the intensive care unit (ICU) that obesity contributes to increased morbidity and to a prolonged length of stay. We hypothesized that obesity is associated with the need for increased duration of therapy in children admitted to the ICU with status asthmaticus. DESIGN: Retrospective cohort study. SETTING: A tertiary pediatric ICU in a university-affiliated children's hospital. PATIENTS: We retrospectively examined data from all children older than 2 yrs admitted to the ICU with status asthmaticus between April 1997 and June 2004. Children were classified as normal weight (<95% weight-for-age percentile) or obese (>95% weight-for-age). INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Of the 209 children admitted to the ICU with asthma, 45 (22%) were obese. Compared with children of normal weight, the obese children were older (9.7 +/- 4.4 vs. 8.0 +/- 4.3 yrs, p = .02), more likely to be female (60% vs. 37%, p < .01), and more likely to have been admitted to the ICU previously (40% vs. 20%, p = .01). The obese children also had a statistically significant difference in race (more likely to be Hispanic) and in baseline asthma classification (more likely to have persistent asthma). Despite similar severity of illness at ICU admission, obese children had a significantly longer ICU length of stay (116 +/- 125 hrs vs. 69 +/- 57 hrs, p = .02) and hospital length of stay (9.8 +/- 7.0 vs. 6.5 +/- 3.4 days, p < .01). Obese children also received longer courses of supplemental oxygen, continuous albuterol, and intravenous steroids. CONCLUSIONS: Childhood obesity significantly affects the health of children with asthma. Obese children with status asthmaticus recovered more slowly from an acute exacerbation, even after adjustment for baseline asthma severity and admission severity of illness.     

YKL-40 expression is associated with poorer response to radiation and shorter overall survival in glioblastoma.

PURPOSE: YKL-40 is a secreted protein that has been reported to be overexpressed in epithelial cancers and gliomas, although its function is unknown. Previous data in a smaller sample set suggested that YKL-40 was a marker associated with a poorer clinical outcome and a genetically defined subgroup of glioblastoma. Here we test these findings in a larger series of patients with glioblastoma, and in particular, determine if tumor YKL-40 expression is associated with radiation response. EXPERIMENTAL DESIGN: Patients (n=147) with subtotal resections were studied for imaging-assessed changes in tumor size in serial studies following radiation therapy. An additional set (n=140) of glioblastoma patients who underwent a gross-total resection was tested to validate the survival association and extend them to patients with minimal residual disease. RESULTS: In the subtotal resection group, higher YKL-40 expression was significantly associated with poorer radiation response, shorter time to progression and shorter overall survival. The association of higher YKL-40 expression with poorer survival was validated in the gross-total resection group. In multivariate analysis with both groups combined (n = 287), YKL-40 was an independent predictor of survival after adjusting for patient age, performance status, and extent of resection. YKL-40 expression was also compared with genetically defined subsets of glioblastoma by assessing epidermal growth factor receptor amplification and loss at chromosome 10q, two of the common recurring aberrations in these tumors, using fluorescent in situ hybridization. YKL-40 was significantly associated with 10q loss. CONCLUSIONS: The findings implicate YKL-40 as an important marker of therapeutic response and genetic subtype in glioblastomas and suggest that it may play an oncogenic role in these tumors.     

Consensus guidelines on pediatric acute rheumatic fever and rheumatic heart disease

JUSTIFICATION: Acute rheumatic fever and rheumatic chronic valvular heart disease is an important preventable cause of morbidity and mortality in suburban and rural India. Its diagnosis is based on clinical criteria. These criteria need verification and revision in the Indian context. Furthermore, there are glaring differences in management protocols available in literature. These facts prompted Indian Academy of Pediatrics to review the management of rheumatic fever. PROCESS: Management of Rheumatic fever was reviewed and recommendation was formulated at national consultative meeting on 20th May 2007 at New Delhi. OBJECTIVES: To formulate uniform guidelines on management of acute rheumatic fever and rheumatic heart disease in the Indian context. Guidelines were formulated for the management of streptococcal pharyngitis, acute rheumatic fever and its cardiac complication as well as secondary prophylaxis for recurrent episodes. RECOMMENDATIONS: (1) Streptococcal eradication with appropriate antibiotics (Benzathine penicillin single dose or penicillin V oral or azithromycin). (2) Diagnosis of rheumatic fever based on Jones criteria. (3) Control inflammatory process with aspirin with or without steroids (total duration of treatment of 12 weeks). (4) Treatment of chorea according to severity (therapy to continue for 2-3 weeks after clinical improvement). (5) Protocol for managing cardiac complication like valvular heart disease, congestive heart failure and atrial fibrillation. (6) Secondary prophylaxis with benzathine penicillin and management of anaphylaxis.     

Evaluation of Food Labelling the Products with Information Regarding the Level of Sugar: A Preliminary Study

The aim of this article is to explore the reasons for seeking selected information on a food label, with particular emphasis on certain information about sugar. In order to meet the aim, in 2020, a survey was conducted among consumers aged 18–45. Predictive models (Logistic Regression) were developed for noticing “light” products and reading food labels. The results of our study indicate that consumers are mainly discouraged from reading label information by a large amount of information, the lack of time, and a general reluctance to be interested in label information. When it comes to the factors that lead people to read label information, the naturalness of the product, its organic origin, and physical activity are important. Moreover, respondents who declared that they noticed products on the market defined as “light” were those who were interested in the naturalness of the product, but also consumers declaring that they have nutritional knowledge. The results of the study indicate the need to intensify information campaigns in order to emphasize how important it is for consumers to read the information on food labels. The amount and complexity of information currently appearing on the food label may unfortunately discourage consumers from reading it, so it is important to continuously improve this form of communication with the consumer.     

Giant benign ovarian tumor coexisting with late pregnancy--a case report

We have reported a rare case of a giant ovarian tumor which, due to the lack of proper health care on the side of the patient, had not been diagnosed until 27 weeks of pregnancy. The patient did not demonstrate any clinical symptoms till the moment of the diagnosis. Peripheral blood analysis showed severe anemia at the admission. The right adnex with the multilocular cystic tumor containing bloody fluid and measuring 40 cm in diameter, was removed in the course of the surgical procedure. The histological diagnosis of the tumor was: serous cyst. Surgical removal of the giant tumor allowed for further development of pregnancy and enabled vaginal delivery of healthy newborn at term.     

Perinatal transmission of Trichomonas vaginalis: a case report

BACKGROUND: Trichomonas vaginalis infection is associated with increased risks of adverse pregnancy outcome. Perinatal transmission of T vaginalis from an infected, untreated, pregnant woman to her female neonate can occur. CASE: A 22-year-old woman, gravida 3, para 2, with untreated trichomoniasis had an uncomplicated spontaneous vaginal delivery of a healthy female infant. At day of life 19 the newborn was diagnosed and treated for trichomoniasis. No evidence was found consistent with child sexual abuse. CONCLUSION: Perinatal transmission of T vaginalis occurs rarely. Neonatal infection has medical and psychosocial implications. This outcome, albeit rare, should be a consideration in the decision regarding antenatal treatment of T vaginalis infection.