Case Of Single Type Research Articles

Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands.

BackgroundOsteogenesis imperfecta (OI) is a rare connective‐tissue disorder characterized by bone fragility. Approximately 90% of all OI cases are caused by variants in COL1A1 or COL1A2. Additionally, IFITM5 variants are responsible for the unique OI type 5. We previously analyzed COL1A1/2 variants in 22 Japanese families with OI through denaturing high‐performance liquid chromatography screening, but our detection rate was low (41%).MethodsTo expand the genotype‐phenotype correlations, we performed a genetic analysis of COL1A1/2 and IFITM5 in 96 non‐consanguineous Japanese OI probands by Sanger sequencing.ResultsOf these individuals, 54, 41, and 1 had type 1 (mild), type 2–4 (moderate‐to‐severe), and type 5 phenotypes, respectively. In the mild group, COL1A1 nonsense and splice‐site variants were prevalent (n = 30 and 20, respectively), but there were also COL1A1 and COL1A2 triple‐helical glycine substitutions (n = 2 and 1, respectively). In the moderate‐to‐severe group, although COL1A1 and COL1A2 glycine substitutions were common (n = 14 and 18, respectively), other variants were also detected. The single case of type 5 had the characteristic c.‐14C>T variant in IFITM5.ConclusionThese results increase our previous detection rate for COL1A1/2 variants to 99% and provide insight into the genotype‐phenotype correlations in OI.

Analysis and numerical simulation of an inverse problem for a structured cell population dynamics model.

In this work, we study a multiscale inverse problem associated with a multi-type model for age structured cell populations. In the single type case, the model is a McKendrick-VonFoerster like equation with a mitosis-dependent death rate and potential migration at birth. In the multi-type case, the migration term results in an unidirectional motion from one type to the next, so that the boundary condition at age 0 contains an additional extrinsic contribution from the previous type. We consider the inverse problem of retrieving microscopic information (the division rates and migration proportions) from the knowledge of macroscopic information (total number of cells per layer), given the initial condition. We first show the well-posedness of the inverse problem in the single type case using a Fredholm integral equation derived from the characteristic curves, and we use a constructive approach to obtain the lattice division rate, considering either a synchronized or non-synchronized initial condition. We take advantage of the unidirectional motion to decompose the whole model into nested submodels corresponding to self-renewal equations with an additional extrinstic contribution. We again derive a Fredholm integral equation for each submodel and deduce the well-posedness of the multi-type inverse problem. In each situation, we illustrate numerically our theoretical results.

Inverted Papilloma: New Classification and Guidelines for Endoscopic Surgery

Surgery is the gold standard in the management of inverted papilloma (IP); however, the approach and extent of the surgical procedure are still controversial. Moreover, there is still no universal staging system of IP to plan surgery and/or evaluate results. We performed a retrospective study. A new classification depending on the origin of the lesion was used to plan surgery in 70 cases of IP. Conservative transnasal endoscopic excision was performed in lesions arising from the nasal septum and lateral nasal wall (type I IP, 42 cases) and radical transnasal endoscopic medial maxillectomy was performed in lesions arising from the maxillary sinus (type 1 IF, 28 cases). Excluding cases with a follow-up of <2 years, follow-up for periods ranging between 2 and 13.3 years with a median of 78 months showed recurrence in a single case of type I (3.2%) and 2 cases of type II (9.5%). The new classification system, based on the origin of IP, is a simple tool for grading IP. It can be used to define cases suitable for conservative excision or radical medial maxillectomy. Both could be performed transnasally and endoscopically.

Self-intersection local time of an S′(Rd)-valued process involving motions of two types

We study existence and continuity of self-intersection local time (SILT) for a Gaussian S ′( R d ) -valued process which arises as a high-density fluctuation limit of a particle system in R d , where the particle motion switches back and forth between symmetric stable processes of indices α 1 and α 2 at exponential time intervals. We prove that SILT exists if and only if d<2 min {α 1 ,α 2 }. This means that existence of SILT is determined by the “most mobile” of the two types, and we interpret this result in terms of the particle picture. In contrast with the single-type case, there are technical difficulties due to the lack of self-similarity of the particle paths.

The multitype measure branching process

The existence of the multitype measure branching process is established as a small particle limit of a system of particles of several types in Rd with immigration undergoing migration, branching and mutation. The process is characterized as a solution of a martingale problem. The single-type case was studied by Dawson (1975), (1977) and Watanabe (1968).

The multitype measure branching process

The existence of the multitype measure branching process is established as a small particle limit of a system of particles of several types inRdwith immigration undergoing migration, branching and mutation. The process is characterized as a solution of a martingale problem. The single-type case was studied by Dawson (1975), (1977) and Watanabe (1968).

CEREBRAL PERFUSION DEFICITS IN DYSBARIC ILLNESS

Decompression sickness (DCS) is usually categorised as type I (mild; peripheral pain, non-neurological) or type II (serious; neurological). Type II is regarded as predominantly a spinal cord disease with infrequent cerebral involvement. Cerebral perfusion was studied by injection of 99Tcm-hexamethylpropyleneamine oxime and single photon emission tomography in 28 divers with confirmed incidents of DCS and cerebral arterial gas embolism (CAGE). Cerebral perfusion deficits were present in all 23 cases of type II DCS and in all 4 cases of CAGE. No deficits were present in the single case of type I DCS. Type II DCS should be recognised as a diffuse, multifocal, central nervous system disease.

Polymerisation processes with intrapolymer bonding. III. Several types of unit

The solution for the multitype version of the polymerisation process treated in earlier papers is examined, and found to present several new features, because of the necessarily complex integration path, and because of the greater number and variety of potential singularities. Cases of ‘Poisson interaction’ are particularly amenable to treatment, however, and we examine two particular cases of interest in Sections 5 and 6. One is a version of the Ising model, which shows phase transition and its character very simply. The other is a version of the farmer–trader model considered previously, which now manifests a number of features, including a discontinuous transition between agrarian and mercantile economies. A stratified Poisson-interaction model is examined in Section 7. The roles of the various singularities are clarified, and a behaviour analogous to that of the single-type case confirmed.

Polymerisation processes with intrapolymer bonding. III. Several types of unit

The solution for the multitype version of the polymerisation process treated in earlier papers is examined, and found to present several new features, because of the necessarily complex integration path, and because of the greater number and variety of potential singularities. Cases of ‘Poisson interaction’ are particularly amenable to treatment, however, and we examine two particular cases of interest in Sections 5 and 6. One is a version of the Ising model, which shows phase transition and its character very simply. The other is a version of the farmer–trader model considered previously, which now manifests a number of features, including a discontinuous transition between agrarian and mercantile economies. A stratified Poisson-interaction model is examined in Section 7. The roles of the various singularities are clarified, and a behaviour analogous to that of the single-type case confirmed.