Dysplasia metaphysaria,Typ Vaandrager-Pena

A report is given on a 10 year old girl with dwarfism, disturbances of metaphyseal ossification, which were localised especially in the distal metaphyses of the long bones and metaphyses of the tubular bones; the biochemical tests were normal. This girl shoewed similar radiographic changes as patients described by Vaandrager and Pena. In the authors' opinion it is a new entity, different from all hitherto known well-defined types of metaphyseal dysplasia. The eponyme Vaandrager-Pena is proposed for this rare but well defined type of metaphyseal dysplasia.

     

Hypohidrotic ectodermal dysplasia in females

The authors report a female with full-blown hypohidrotic ectodermal dysplasia and survey the literature concerning cases of the complete syndrome in females. The condition is ordinarily inherited as an X-linked recessive trait but evidence suggests that other patterns of inheritance may occur. There are several examples of probable autosomal recessive inheritance. The syndrome appears to be an example of genetic heterogeneity.This study was made possible in part by U.S.P.H.S. Program Grant in Oral Pathology, DE-1770.     

Beitrag zur Problematik der Dysplasia renofacialis

Zusammenfassung An Hand eines umfassenden Literaturstudiums werden 170 Beobachtungen mit einer doppelseitigen Nierenagenesie tabellarisch aufgegliedert. Besondere Berücksichtigung erfahren acht Fälle mit einer auffallend langen Überlebenszeit. Über einen eigenen Patienten mit einer Überlebenszeit von 13 Tagen und 2 Std wird ausführlich berichtet. Nach Ausklammerung der in 17% bei Nierenagenesie vorkommenden monströsen Mißbildungen ergab sich folgende klinische und pathologisch-anatomische Konstellation: Agenesie von Nieren und Ureteren bei 100%, typische Gesichtsdysplasie (Potter) bei 82%, Mißbildungen des inneren männlichen und weiblichen Genitale bei 80–100%, Mikrocystis bei 74%, Hypoplasie der Lungen bei 70%, Klumpfüße bei 31%, Deformierungen der Wirbelsäule bei 15%, Analatresie bei 12,5%, fehlgebildetes äußeres Genitale bei 12,5%, Gelenkkontrakturen bei 11,5% der Fälle.Da die gleichen Veränderungen auch bei Nierenhypoplasie, doppelseitiger hochgradiger Cystenniere und Urethraatresie vorkommen, wird die Frage der Eigenständigkeit des Syndromes diskutiert und folgende etwas globale Definition vorgeschlagen: Von einer Dysplasia renofacialis sollte man dann sprechen, wenn bei sogenannter funktioneller Nierenagenesie mit fehlender Urinausscheidung in das Fruchtwasser typische Gesichtsveränderungen in der Regel in Kombination mit einer Lungenhypoplasie beobachtet werden. Verständlicherweise kann über Ätiologie und Pathogenese der Dysplasia renofacialis nach wie vor wenig gesagt werden. Insgesamt müssen wohl zur Zeit exogene Faktoren am ehesten in Erwägung gezogen werden.

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A contribution to the problem of dysplasia renofacialis

Summary Based on a comprehensive study of the literature, 170 cases of bilateral kidney agenesia have been evaluated. Special attention was paid to eight cases with an unusually long survival period. An extensive report is given on a patient in this hospital, whose survival time was 13 days and two hours. Not counting the 17 per cent of cases with monstrous deformities which were found in kidney agenesia, the following clinical and pathologic-anatomical findings were obtained: agenesia of the kidneys and ureters in 100 per cent; typical facial dysplasia (Potter) in 82 per cent; deformities of the internal male and female genital organs in 80 to 100 per cent; microcystis in 74 per cent; hypoplasia of the lungs in 70 per cent; club foot in 31 per cent, deformities of the spine in 15 per cent; analatresia in 12.5 per cent; malformation of the external genital organs in 12.5 per cent; contracted joints in 11.5 per cent of the cases.Since similar changes are also observed in kidney hypoplasia, bilateral advanced cystic kidney, and urethraatresia, the question was raised whether dysplasia renofacialis should be regarded as a syndrom in its own right; the following, some-what far-reaching, definition was proposed: A case should only be described as dysplasia renofacialis if in the presence of a so-called functional renal agenesia (no secretion of urine into the amniotic fluid), typical facial changes are observed which usually go together with a hypoplasia of the lungs. It is of course still impossible to say anything about the etiology and pathogenesis of dysplasia renofacialis. However, the overall impression is that exogenic factors are probably responsible for its occurrence.

     

Histogenesis of epithelial neoplasms of human gallbladder I. Dysplasia

In order to find a relationship between normal gallbladder epithelium and dysplastic epithelium, histological and histochemical examinations were made on gallbladder specimens obtained from cholecystetomies and special attention was paid to the relationship of the different metaplasias. Epithelial pseudostratification increases in mitotic figures and hyperchromatism accord well with the degrees of dysplasia of surface epithelium. The relationship of the ratio of cell and nuclear size and complexity of glandular branching is more meaningful in degrees of dysplasia of glandular epithelium. Epithelial dysplasia in the surface and glandular epithelium was divided into three types: mild, moderate and severe. This classification was made on the basis of specimens containing dysplasia selected from an extensive gallbladder material. The frequency of dysplasias of different degrees was clarified in 71 cholecystectomia gallbladders. No dysplastic changes were demonstrated in 47 gallbladders (66.2%), and in 10 of these metaplasia was present, 24 gallbladders (33.8%) exhibited dysplastic changes; metaplasia was present in 20 cases (83.3%) and in 14 (58.3%) in the dysplastic region. Severe dysplasia was present only in one case, moderate in 6 and mild dysplasia alone in 17 cases. Dysplasia was found in glands only in 3 cases. In dysplastic epithelium, the mucin reaction was similar to that in the metaplastic epithelium. It contained mainly nonsulphated acid mucin and neutral mucin. With gradually increasing degree of dysplasia the amount of mucin. With gradually increasing degree of dysplasia the amount of mucin clearly decreased. The present results indicate that dysplasia often develops in metaplastic epithelium.     

Scoring method for early prediction of neonatal chronic lung disease using modified respiratory parameters

In our previous study, we have demonstrated that peak inspiratory pressure over birth weight (PIP/kg) and mean airway pressure over birth weight (MAP/kg) were more significant risk factors for the development of neonatal chronic lung disease (CLD) than PIP and MAP. We aimed to develop a scoring method using the modified respiratory variables (SMUMRV) to predict CLD at early postnatal period. From 1997 to 1999, a retrospective review was performed for 197 infants <1,500 g for the development of the SMUMRV based on statistical analysis. From 2000 to 2001, calculated scores on day 4, 7 and 10 of life were obtained prospectively for 107 infants <1,500 g. Predictive values and the area under the receiver operator characteristic curve (AUC) were determined and compared with the result of the previous regression model. Gestational age, birth weight, 5 min Apgar score, PIP/kg at 12 hr of age, fractional inspired oxygen (FiO2), MAP/kg, modified oxygenation index and ventilatory mode were selected as parameters of SMUMRV. No significant differences of AUCs were found between the SMUMRV and the Yoder model. It is likely that our scoring method provides reliable values for predicting the development of CLD in very low birth weight infants.     

髋关节发育不良患者全髋关节置换术的髋臼中心化

目的 探讨采用全髋关节置换术(THA)治疗髋关节发育不良继发骨关节炎术中髋臼杯假体放置的方法及其对手术疗效的影响。方法 对38例(44髋)于1989年9月至2003年4月接受全髋人工关节置换术的髋关节发育不良继发骨关节炎患者进行了随访。其中男14例,女24例,平均年龄51．2岁(29～80岁),平均随访36．4个月(8～168个月)。按Crowe方法进行分类：Ⅰ型12髋,Ⅱ型24髋,Ⅲ型7髋,Ⅳ型1髋。测量泪滴与髋旋转中心的水平距离并与术后测量结果比较。结果 髋臼杯假体中心化放置者24髋,未加深髋臼者20髋。术后两组Harris评分分别为90．2分、86．3分。结论 对于多数髋关节发育不良患者在行THA时,术中加深髋臼而将髋旋转中心内移和下移,可使髋臼杯假体置于中心化位置得到牢固固定及满意的骨覆盖,术后获得良好的临床疗效。     

Altered expression of neurotransmitter-receptor subunit and uptake site mRNAs in hemimegalencephaly

PURPOSE: Hemimegalencephaly (HMEG) is characterized by unilateral hemispheric enlargement and severe cytoarchitectural abnormalities that are highly associated with intractable epilepsy. No studies have defined alterations in neurotransmitter-receptor subunit gene expression in HMEG. We hypothesize that a differential expression of excitatory amino acid and gamma-aminobutyric acid (GABA)A-receptor subunit messenger RNAs (mRNAs) exists in HMEG. METHODS: The expression of mRNAs encoding 20 neurotransmitter-receptor subunits, synthetic enzymes, and uptake sites as well as select additional candidate genes was defined in HMEG samples (n=8) compared with homotopic control cortex specimens by using targeted complementary DNA (cDNA) arrays. Expression of GLT-1 (a glial glutamate transporter), EAAC-1 (neuronal glutamate transporter), and NMDA2B was corroborated by immunohistochemical, Western, and ligand-binding assays. RESULTS: Differential expression of 11 neurotransmitter-related mRNAs was demonstrated in HMEG compared with control cortex. For example, expression of GLT-1 and GluR6 mRNAs was enhanced, whereas diminished expression of the neuronal glutamate transporter EAAC-1, GABAAalpha2, GABAAgamma2, GABAAgamma3, NMDA2B, GluR1, GluR2, GluR4, and GluR5 subunits occurred. Reduced NMDA2B subunit mRNA expression in HMEG was confirmed by receptor ligand-binding assays by using the NMDA2B-receptor antagonist ifenprodil, which revealed barely detectable levels of NMDA2B binding compared with that in control cortex. CONCLUSIONS: Selective alterations occur in distinct neurotransmitter-receptor and -uptake sites in HMEG. Differential expression of neurotransmitter-receptor and -uptake sites in HMEG may contribute to epileptogenesis in HMEG.     

Congenital dysplasia of C2–6

Neural arch dysplasia of the cervical 4 vertebrae is a rare occurrence. The authors present a case with dysplasia of cervical bodies and posterior arch elements at multiple levels. The embryogenesis of these anomalies is discussed.     

The oto-onycho-peroneal syndrome

Two male sibs exhibit peculiar dysplasia of the ears, partial aplasia of the nails, and aplasia or hypoplasia of the fibulae. Gross motor development is severely impaired due to contractures of the hip, knee and ankle joints. Minor craniofacial abnormalities and immobility of several interphalangeal joints are also noted in this new syndrome which may be due to a rare recessive allele, probably autosomal.This paper is dedicated to Prof. K. D. Bachmann, Münster, on the occasion of his 60th birthday     

Cervical carcinogenesis and contraception

Cytologic evaluation of cervical smears has been carried out in 3,374 women who used different modes of contraception (Lippes loop, copper T200, copper T220, copper devices containing higher copper content than the copper T200, Cu T380 Ag, levonorgestrel IUD, injections of noresthisterone oenanthate, and subdermal implants of levonorgestrel) under the Contraceptive Testing Programme of Indian Council of Medical Research for periods ranging from 6 months to 15 yr. While no case of severe dysplasia or malignancy was noticed with any type of contraceptive, 113 dysplastic smears (99 mild and 14 moderate) were encountered on follow-up, giving an incidence of 3.3%, which was statistically insignificant compared with the pretreatment incidence of 1.4% (47 of 3,374). The highest incidence of dysplasia was seen with devices containing a high copper content (9.2%), followed by CuT200 (6.1%) and levonorgestrel implants (4.2%), and was lowest with Lippes loop (1.8%), injection of noresthisterone oenanthate (1.7%), and CuT380 Ag (1.5%), but statistics higher than the pretreatment incidence of 1.4% were seen only with CuT200 and devices containing high copper content. Retrogression of dysplasia was seen in 85 of the 94 posttreatment dysplasia cases and in all 47 pretreatment dysplasia cases, whereas in the remaining nine posttreatment cases of dysplasia the lesion persisted for 6-12 mo, necessitating discontinuation of contraception. The accumulated follow-up data indicate that the CuT380 Ag device is a promising IUD for the future in view of its low incidence of dysplasia determined during its use up to 5 yr. However, more prolonged follow-up in larger numbers of subjects is required to confirm its innocuosness on long-term retention.