Segmental Neurofibromatosis Follows Blaschko’s Lines or Dermatomes Depending on the Cell Line Affected: Case Report and Literature Review

Background Segmental neurofibromatosis type 1 (NF-1) has the characteristic features of generalized NF-1 but is isolated to a particular segment of the body. Segmental NF-1 results from a postzygotic mutation during embryogenesis in the NF-1 gene on chromosome 17. The embryologic timing of the mutation and cell types affected predict the clinical phenotype.Objective We present a case of a 52-year-old woman with segmental neurofibromas isolated to the right cheek and neck. We review the recent literature on the genetic and cellular differences between the various clinical manifestations of segmental NF-1.Methods A MEDLINE search for cases of segmental neurofibromatosis was conducted.Results In patients with segmental NF-1 presenting as neurofibromas-only, the distribution follows a neural distribution in dermatomes because the genetic mutation appears to be limited to Schwann cells. In patients with pigmentary changes only, the NF-1 mutation has been shown to occur in fibroblasts and the distribution tends to follow the lines of Blaschko.Conclusion Our patient’s neurofibromas were secondary to a postzygotic mutation in the NF-1 gene of neural crest–derived cells. This mutation most likely occurred later in embryogenesis in cells that had already differentiated to Schwann cells and were committed to the dermatomal distribution of the right neck and cheek region (C2).

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SommaireAntécédents La neurofibromatose périphérique de type 1 segmentaire, ou encore NF-1 segmentaire, présente les caractéristiques générales d’une NF-1 tout en étant isolée à une zone particulière du corps. La NF-1 segmentaire résulte d’une mutation post-zygotique durant I’embryogènese dans le gène NF-1 , sur le chromosome 17. La période de la mutation embryologique et les types de cellules affectées prédisent le phénotype clinique.Objectif Nous étudions le cas d’une femme de 52 ans presentant des neurofibromes segmentaires isolés à la joue et au cou du côté droit. Nous passons en revue les récentes publications portant sur les différences génétiques et cellulaires entre les diverses manifestations de la NF-1 segmentaire.Methodes Une recherche des cas de neurofibromatose segmentaire dans la base de données MEDLINE a été effectuée.Resultats Chez les patients ayant une NF-1 segmentaire se manifestant sous forme de neurofibromes seulement, la distribution suit une distribution neurale des dermatomes car la mutation génétique semble se limiter aux cellules de Schwann. Chez les patients qui souffrent uniquement d’un changement pigmentaire, il a été démontré que la mutation NF-1 a lieu dans les fibroblastes et la distribution a tendance à suivre les lignes de Blaschko.Conclusion Les neurofibromes de notre patiente étaient consécutifs à une mutation post-zygotique dans le gène NF-1 de cellules dérivées de la crête neurale. II est très probable que cette mutation ait eu lieu plus tard durant l’embryogenèsè des cellules qui s’étaient déjà spécialisées en cellules de Schwann et avaient deja été rattachées au cou et à la joue, du côté droit (C2).

     

How do cancer patients receiving palliative care at home die? A descriptive study

Context

Data regarding the circumstances of the process of death of terminally ill patients followed at home are lacking.

Objectives

The aim of this study was to describe the characteristics and assess the circumstances of the process of death of terminally ill patients followed at home.

Methods

This was a prospective survey to assess the dying process of advanced cancer patients followed at home. Within a week after death, the principal caregiver was interviewed. Information from the palliative home care team and the caregiver about expectation of death, time of death, professional and nonprofessional people present at time of death, emergency admission to hospital, and administration of drugs to resuscitate was gathered. The principal clinical issues in the last two hours also were recorded.

Results

In total, 181 of 222 caregivers provided information. Most deaths were expected. Palliative home care team physicians and nurses visited the patient on the day of death but were occasionally present at the moment of death. More than three people were generally present at time of death. More than two-thirds of patients died peacefully, without apparent suffering, and 35.7% of them received palliative sedation before dying. In the last two hours, the most frequent clinical issues were ranked as death rattle, dyspnea, and agitation. In 10 cases, emergency drugs for resuscitation were administered.

Conclusion

This study has shown how advanced cancer patients die at home and that palliative home care may be helpful in allowing a death at home, particularly when relatives are actively involved.     

Enzymatic screening of human uterine cervical biopsies in nonpregnant and pregnant women at parturition

Twelve enzymatic activities, involved in the metabolism of proteins, collagen, glycosaminoglycans, or in the energy metabolism, were studied in 72 cervical biopsies obtained after delivery of the placenta and in 12 cervices obtained by hysterectomy in nonpregnant patients. Although these activities display high interindividual variations, they are greatly and significantly increased at parturition as compared to the nonpregnant state, with the exception of creatine kinase, which is maximum in cervices obtained from nulliparous nonpregnant women. The activities are low in the group of women who are 35 to 40 years old. The other studied factors (blood group, parity, pregnancy duration, labor length, treatment, state of the cervix at the 9-month examination) have no clear influence on the enzymatic levels. The results are discussed in relation to the well-known structural changes of the cervix at parturition.     

Emptying the gallbladder prior to intravenous cholangiography: effect on gallbladder visualization.

Experiments were done to test the hypothesis that emptying the gallbladder prior to intravenous cholangiography (IVC) would result in earler and better opacification of the gallbladder. Five dogs were studied on two separate days in a crossover experiment. Each dog had a standard IVC (15-minute infusion of meglumine iodipamide) 2.5 cc/kg of following a 14-16-hour fasting period. On one of the days, 0.3 mcg/kg of Ceruletide was intramuscularly administered to each dog 30 to 45 minutes prior to the iodipamide infusion. Films obtained at the end of infusion and at 20, 40, 60, and 90 minutes were evaluated independently by three radiologists. The results indicate that pretreatment with Ceruletide produces a significant (p less than 0.05) improvement in the quality of gallbladder opacification during the first 90 minutes following iodipamide infusion. We conclude that earlier and better opacification of the gallbladder during IVC can be obtained by prior emptying of the gallbladder with a cholecystokinetic agent.     

Demonstration of specific IgA in human feces after immunization with live Ty21a Salmonella typhi vaccine

An enzyme-linked immunosorbent assay was applied to evaluate the appearance of specific IgA in fecal eluates of 11 normal subjects given oral live Salmonella typhi Ty21a vaccine. All subjects after immunization showed a detectable rise in levels of specific IgA to both lipopolysaccharide and flagellar antigens of S. typhi.     

Hospitals between present and future

What role will hospitals play in the future of the healthcare system, and how this role will be changing? Hospitals of the future will confront difficult challanges: new kinds of disease, rapidly evolving medical technologies, aging of the population and evolving budget restrictions. All features that make it difficult to foresee the hospital of the future. The aim of this paper is to analyze the different challanges that hospital have to face in a modern scenario of evolution of public health services.