Spectrum of NSD1 mutations in Sotos and Weaver syndromes

Interestingly, mental retardation was consistently more severe in patients with NSD1 deletions. Macrocephaly and facial gestalt but not overgrowth and advanced bone age were consistently observed in Sotos syndrome patients. We suggest therefore considering macrocephaly and facial gestalt as mandatory criteria for the diagnosis of Sotos syndrome and overgrowth and advanced bone age as minor criteria.     

A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys)

Four affected siblings in a Costa Rican family presented an aggressive polyneuropathy with widespread involvement of many visceral organs and onset during the third decade of life with rapid loss of muscle mass in the lower limbs and severe dysautonomy. The medical histories include vitreous opacity, cardiac enlargement, dermal and gastrointestinal infiltration, and autonomic dysfunction including circulatory compromise and gastrointestinal disturbances. Histological studies using Congo red stain and immunohistochemical assays with antibodies against the transthyretin (TTR) protein showed widespread deposition of amyloid in extracellular areas, including dermis and gastrointestinal lamina propia, endo- and perineural spaces, and vascular walls. A mutation search in the transthyretin (ttr) gene was performed seeking the cause of this severe form of familial amyloidotic polyneuropathy (FAP). We applied single-stranded conformational polymorphism (SSCP)-analyses followed by sequencing of the four exons of the ttr gene, revealing a point mutation in exon 3, a G to A transition that causes a Glu54Lys codon change. Western blots of plasma proteins incubated with anti-transthyretin antibodies after gel electrophoresis provided separation of wild-type and mutant TTR protein in affected family members.     

Serological studies of monoclonal RH1(D) antibodies with RH1(D) variants

In this paper we chose to emphasize three aspects of our work. First we underlined that “low grade and high grade” D weak red blood cells studied at the DNA level could, when monoclonal antibodies were used, give patterns of positive and negative reactions like partial RH1(D) cells. Secondly, we showed the importance of the technical conditions of the study which are essential for establishing a pattern of reactivity defining an epitope. It appears that the use of papain treated cells at room temperature can be misleading for the definition of epitope especially with IgM antibodies. Lastly we pointed out the interest of Rh variant cells, defined at the gene level, to study the expression of RH1(D) epitopes on the external part of the membrane.     

Pathology of inverted Takotsubo cardiomyopathy

Myocardial dysfunction without coronary involvement may occur in acute cerebral diseases. The inverted Takotsubo pattern has been recently recognized as a novel heart neurologic stress-related syndrome. We report on the case of a 40-year-old woman presenting with massive subarachnoid hemorrhage and brain death. Echocardiography revealed an extensive left ventricular circumferential akinesis except at the apex. Histologic analysis of the heart confirmed the absence of myocardial infarction and revealed only sparse foci of myocyte necrosis with contraction bands in the akinetic areas.     

A 44,000 glycoprotein is involved in the attachment of echovirus-11 onto susceptible cells.

Cellular receptors play an important role in viral pathogenesis. Until now little was known on echovirus (EV) receptor. Using detergent-treated KB cell extracts as immunogen, a mouse monoclonal antibody (Mab 143) was produced that selectively blocks the attachment of EV-11 to KB and other susceptible cells. By immunoblotting, Mab 143 detected a 44,000 protein on susceptible cell lines but not on cell lines from nonprimate origin. The receptor protein complex, purified from KB cell membranes by immunoaffinity using Mab 143 as ligand, was shown to contain a single glycoprotein with apparent molecular weight of 44,000 (gp44). The role of gp44 in the attachment of EV-11 onto KB cells was demonstrated by the ability (i) of affinity-purified gp44 to reduce the infectivity of EV-11 and (ii) of rabbit polyclonal antisera raised against gp44 to protect cells from the replication of various EV, as did Mab 143.     

The supra-transverse intermetatarsocapital bursa: a description and its relation to painful syndromes of the forefoot

Very many painful syndromes of the forefoot remain without a satisfactory explanation; although this region contains quite specific structures, it has suffered from the application of analogies with disorders of the hand. Among these specific components, the presence of the supra-transverse intermetatarsocapital bursa provides an explanation of such clinical entities as the acute syndrome of the second intermetatarsal space and gives fresh impetus to the debate on the etiopathogenesis of Morton's metatarsalgia. On the basis of 25 dissections, the authors studied the region between the metatarsal heads, confirming the presence of these bursae and specifying their site and size and particularly their relations with the common plantar digital nerve at its bifurcation into collateral nerves.     

Standardisation of 31phosphorus-nuclear magnetic resonance spectroscopy determinations of high energy phosphates in humans

A procedure is described for standardising the determination of adenosine 5-triphosphate and phosphocreatine concentration ([ATP] and [PC], respectively, in absolute arbitrary units) in human muscle by nuclear magnetic resonance (NMR) spectroscopy. The individual ³¹phosphorus (²¹P)-NMR spectra obtained on equal hemispherical tissue volumes (muscle plus skin and fat) were corrected for the thickness of the skin and of the subcutaneous fat. The volumes investigated were standardised using an external reference. The procedure described made possible the comparison of high energy phosphate concentrations among different subjects. It was applied to the assessment of [ATP] and [PC] in four groups of sedentary subjects (children, and adults aged 20–35, 35–50 and over 50 years), and in a group of athletes (volleyball players). The [ATP] and [PC] were not statistically different in the groups investigated.