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PubMed2026

Cytogenetic Diversity of Variant Philadelphia Translocations in Chronic Myeloid Leukemia.

INTRODUCTION: Chronic myeloid leukemia (CML) is a disease characterized by Philadelphia (Ph) translocations. These translocations can be classical or variant. The structural features and diagnostic implications of variant Philadelphia translocations remain incompletely defined, and they display considerable cytogenetic heterogeneity. METHODS: In this retrospective study, variant Ph translocations identified by conventional cytogenetic analysis and fluorescence in situ hybridization (FISH) were systematically classified among 639 patients diagnosed with CML. A total of 35 patients with variant Ph translocations were included in the analysis. Molecular follow-up data, when available, were assessed using RT-qPCR analyses in a subset of patients. RESULTS: Chromosome analysis revealed 2 simple and 33 complex variant Ph translocations. FISH analysis, performed in 20 patients, identified deletions involving BCR, ABL1, or both in a limited number of cases. Additional chromosomal abnormalities and secondary translocations accompanied variant Ph translocations in four patients. The partner chromosomes involved in variant Ph translocations showed marked diversity, involving multiple chromosomal loci. CONCLUSION: Variant Philadelphia chromosome translocations in CML exhibit substantial cytogenetic diversity, reflecting the complexity of their underlying genomic architecture. The rarity and heterogeneity of these rearrangements complicate their classification and interpretation in routine diagnostic practice. Descriptive reporting of variant Ph translocations may contribute to a better understanding of their diagnostic complexity and support more accurate cytogenetic interpretation in CML.

Humans↗

PubMed1979

A rapid ocular smear technique for optometrists: a preliminary report.

The preliminary report discusses a clinical procedure in acquiring conjunctival smears, fixing the acquired sample and interpreting the results. Included is a description of the white blood cells frequently found in ocular smears and the clinical significance of each.

Bacterial Infections↗

PubMed1978

Applied X-ray photogrammetry in neurosurgery.

The introduction of X-ray stereophotogrammetry into neurosurgery permits the exact localisation of metal-dense foreign bodies, the spatial representation of cerebral tumours and their blood supply. The determination of the target point in stereotactic operations is carried out after adjustment of the reference points on the X-ray picture directly by the computer, the seat of the probe can be seen in the X-ray picture in its spatial relations. For intracranial aneurysms, the position, the size, and the topographic situation of the neck of the aneurysm can be determined, and thus the placing of the clip during the operation can be pre-planned and made simpler and safer. A description of the photographic technique and the interpretation by means of the new stereocomparator of Messrs. Zeiss is given.

Humans↗

PubMed1975

[Diagnostic staged program in thyroid diseases].

After some physiological principal remarks the modern possibilities of the in-vitro-diagnostics specific for the thyroid gland are briefly explained. The essential factors of disturbance which are necessary for the avoidance of false interpretations are mentioned. From the sequence of the description (BEJ, T4-test, T3-test, FT4-index, RIA-T3 and RIA-TSH) results the diagnostic step programme proposed by us, by means of which the majority of the functional disturbances of the thyroid gland existing may certainly be classified. Only after exhaustion of the in-vitro-diagnostics the radio-iodine-test should be performed.

Female↗

PubMed1979

Anatomical and physiological considerations regarding the temporomandibular joint.

The structure and function of the human temporomandibular joint has concerned several investigators but still fundamental questions exist and require further examination. A profound knowledge of the normal anatomy and histology of the temporomandibular joint is necessary to understand its function and functional disturbances. It is also necessary for a good understanding of clinical findings and the interpretation of radiographs. In this paper a clinically orientated description has been given of the anatomy and histology of the mandibular head, the articular fossa and eminence, the articular disc, the capsule and ligaments, the synovial membrane, the innervation of the joint and the normal relationship between the different components. About the physiology of the temporomandibular joint many controversial theories exist. A lot of research has still to be done, especially in the field of the co-ordination of the function of both joints, the muscles and the dentition.

Cartilage, Articular↗

PubMed2026

The tunica vaginalis flap as a rescue procedure in testicular torsion: Quantifying salvage rates with matched cohorts.

INTRODUCTION: Testicular torsion is the most common urological emergency in children, and the role of tunica albuginea fasciotomy with tunica vaginalis flap (TVF) in its treatment is controversial. The objective of this study was to evaluate the outcomes among patients undergoing TVF, standard orchiopexy (SO), and orchiectomy, with attention to symptom duration. METHODS: We performed a retrospective review of boys aged 1 month-18 years who underwent surgery for testicular torsion at a single centre from 2010 to 2024. Clinical, ultrasonographic, and operative variables were abstracted, and testicular salvage was defined as a follow-up volume ≥50% of the contralateral testis with blood flow. Propensity score matching for age, symptom duration, and parenchymal heterogeneity generated TVF-SO and TVF-orchiectomy cohorts. Salvage was further stratified by duration of symptoms (<6, 6-12, 12-24, >24 h). RESULTS: Among 157 patients, 31 (20%) underwent orchiectomy, 39 (25%) TVF, and 87 (55%) SO. Overall salvage was 54%, differing by procedure (SO 82%, TVF 36%, orchiectomy 0%; p < 0.001). In the TVF-SO matched cohort (n = 64), salvage was 38% for TVF and 59% for SO (p = 0.133). In the TVF-orchiectomy matched cohort (n = 38), salvage was 32% in the TVF group and 0% in the orchiectomy group (p = 0.02). Salvage after TVF declined steeply with ischemia time, with higher rates observed within 6 h of presentation. DISCUSSION: These findings suggest that TVF is used predominantly in high-risk torsion with adverse ultrasound features. When viewed descriptively, the TVF cohort showed lower follow-up viability than the SO cohort, but this difference must be interpreted in the context of the different intraoperative and preoperative risk profiles underlying procedure selection. We highlight TVF as a valuable additional consideration compared to outright orchiectomy. CONCLUSION: In this retrospective cohort, TVF was used in clinically severe torsion and was associated with follow-up viability in a subset of cases. These descriptive findings support further prospective study but should not be interpreted as evidence of equivalence or comparative benefit of TVF.

Humans↗

PubMed1976

Kinetics of adenosine 3':5'-monophosphate accumulation in dog thyroid slices.

Dog thyroid slices have been stimulated in vitro by thyrotropin. The kinetics of adenosine 3':5'-monophosphate (cyclic AMP) accumulation due to the activation of adenylate cyclase were measured. Experimental results have been interpreted by means of a numerical simulation based on a theoretical description of the overall process which consists of three steps: (a) the penetration of thyrotropin in the slices, (b) the binding of the hormone to the specific receptor and the consequent activation of adenylate cyclase, (c) the kinetics of cyclic AMP accumulation in each cell due to the interplay between synthesis and degradation. The numerical values of the parameters needed for the simulation were deduced from separate experiments. Diffusion of thyrotropin in the slices has been calculated from the kinetics of efflux of [3H]sucrose, and with or without albumin. Adenylate cyclase activity and activation by thyrotropin in homogenates and purified membranes were measured. Binding experiments of cyclic AMP on crude extract of dog thyroid lead to the conclusion that the maximal capacity of the specific binding site is close to the cyclic AMP content in resting thyroid cells. The purpose of this paper is to verify the validity of the current concepts about the mechanisms taking place in this process by comparing experimental results and theoretical simulation. It results from the study that for this system the time between the activation of adenylate cyclase and half maximal cyclic AMPaccumulation is equal to 3 min 45 s and the pool of cyclic AMP is renewed three times per minute. It has been also stressed that the thickness of the slices as well as inhibitors of phosphodiesterases change the apparent kinetics of cyclic AMP accumulation.

Adenylyl Cyclases↗

PubMed1977

Suicidal behavior as a form of communication in married couples.

Suicidal behavior, specifically threats of suicide and acts of self-injury and self-poisoning, are interpreted by suicidologists as acts of communication directed to some person important in the social life of the potential victim. Four groups of married couples were studied using a measure of their marital communication habits and an intensive personal interview. These groups included wives who (a) were volunteer workers in a suicide prevention center, (b) were experiencing marital problems but were not actively suicidal, (c) had called the suicide prevention center and made a verbal threat of suicide, and (d) had actually committed acts of self-injury or self-poisoning for which they received emergency room or hospital treatment. Analysis of the data revealed that the quality of interpersonal communication between spouses significantly deteriorated across the groups as the degree of suicidal behavior increased. Descriptive data are discussed for their relevance to clinicians who, if they correctly interpret the meaning of the "suicide attempt," may be in a position to facilitate its being a successful one.

Attitude↗

PubMed1978

The borderline patient. A comparative analysis of four sets of diagnostic criteria.

In reviewing the evidence for the validity of the diagnosis borderline, four descriptions in the literature seem to offer comprehensive criteria for the diagnosis. When the four are compared, a total of 104 criteria are enumerated encompassing the mental status, history, interpersonal relationships, defense mechansisms, and other judgments of personality functioning of the borderline patient. Half of these criteria are mentioned in only one of the four diagnostic descriptions. This apparent lack of agreement over diagnostic criteria has three possible interpretations: (1) the borderline concept is an illusion; or (2) the concept is adequately defined by those criteria held in common, the others being nonessential; or (3) apart from the concept defined by the common criteria, there are subtypes emphasized by different authors. Although we favor the third interpretation, it is suggested that further speculation await an adequate test of existing diagnostic criteria.

Diagnosis, Differential↗

PubMed2026

Performance Profiles of Short DNA Barcode Segments for Family Level Detection of Asteraceae Within Asterales.

Short DNA barcodes may facilitate sequence recovery from degraded material, but their ability to retain target-family identity while excluding related taxa varies among genomic regions. We computationally evaluated 16 nuclear, plastid, and mitochondrial marker regions from 11 Asterales families using 279,956 NCBI locus-record matches and an accession-disjoint discovery/test design. Thirty-one candidate segments of 50-200 bp (mean, 98.55 bp) were screened in discovery data and evaluated for within-Asteraceae sequence recall, differentiation from non-Asteraceae Asterales, in silico primer behavior, phylogenetic placement, and exploratory matching across 808 metadata-defined metagenomic samples. Conserved regions such as matR and rbcL showed high within-Asteraceae identity, whereas ITS1, ITS, and trnH-psbA showed larger differences from related-family backgrounds; ITS2 and ycf1 showed intermediate profiles. Candidate segments were placed within or immediately adjacent to Asteraceae reference branches in segment-specific maximum-likelihood analyses, although support and topology varied among regions. Metadata-defined target-containing groups had higher mean query coverage and identity than background groups; because target presence was not independently verified and no classifier was fitted, these comparisons were descriptive and did not estimate diagnostic accuracy. Definitionally linked sequence statistics were interpreted as structural associations rather than evidence of causal evolutionary mechanisms. These results provide a family-level computational comparison of candidate short segments for Asteraceae detection within Asterales. Species identification, operational marker combinations, threshold robustness, and laboratory performance require validation using taxonomically dense, voucher-linked, and experimentally characterized datasets.

Asteraceae↗

PubMed2026

Public opinion survey on heritable human genome editing in South Africa: a study protocol.

Heritable human genome editing (HHGE) presents new possibilities for the prevention of genetic diseases but also raises ethical and societal questions. While international surveys have explored public attitudes, particularly in high-income countries, there is a lack of large-scale empirical data from the Global South. In South Africa, previous work used deliberative public engagement to examine public perspectives. The present study aims to complement this by capturing public opinion through a cross-sectional survey, enabling direct comparison with deliberative findings. This study will recruit 400 adult participants residing in South Africa using targeted Facebook advertisements. A two-phase sampling process will be employed: initial screening for demographic information, followed by stratified sampling to ensure a representative South African population. The opinion survey consists of 19 HHGE scenarios, each explored through private and public moral lenses. Additionally, participants will indicate their interpretation of 'safe and effective' genome editing. Quantitative data will be analysed using descriptive statistics, chi-square tests, and logistic regression. Qualitative responses will undergo thematic analysis using both manual coding and generative AI tools under human oversight. The study includes two stages of informed consent and ensures data confidentiality through strict data handling protocols. Results will be disseminated in peer-reviewed journals and policy forums. The study will also generate a secondary dataset for evaluating AI-assisted qualitative analysis, to be conducted under separate ethical clearance.

Humans↗

PubMed1978

Multidimensional classification of normal voice qualities.

This study investigates and acoustically defines some of the perceptual parameters used to distinguish among normal male and female voices. Twenty normal speaking subjects, ten male and ten female, produced speech segments which were paired, randomized, and presented to ten listener judges. The judges rated the similarity of all combinations of voices on a seven-point scale, and these similarities were analyzed by a multidimensional analysis technique, INDSCAL. For each speaker, eight acoustical measures were obtained, and psychophysical ratings of four commonly used descriptive terms were made by ten speech pathologists. These measurements and ratings provided the interpretation of the INDSCAL solution and were also submitted to correlational analyses. The results indicate that, when distinguishing among the voices, the judges gave the greatest weight to the male versus female dimension and its acoustical correlates. The results of both the INDSCAL analysis and the correlational analyses suggest that listeners may use different perceptual strategies to classify male voices than they use to classify females ones.

Acoustics↗

PubMed2026

RNA sequencing resolves a novel noncanonical splice-region variant in PHKA2 causing glycogen storage disease type IX α2: a case report.

BACKGROUND: Glycogen storage disease type IX α2 (GSD IX α2) is an X-linked hepatic glycogenosis caused by pathogenic variants in PHKA2. Noncanonical splice-region variants located outside the invariant GT/AG dinucleotides pose significant interpretive challenges, as in silico predictions alone are often insufficient for definitive classification. CASE DESCRIPTION: We report a 2.9-year-old boy presenting with short stature, hepatomegaly, markedly elevated aminotransferases, fasting hypoglycemia with ketonuria, hypercholesterolemia, coagulation parameter abnormalities (decreased fibrinogen and prolonged thrombin time), and histological evidence of early hepatic fibrosis as demonstrated by Masson's trichrome staining (portal fibrosis and perisinusoidal fibrosis). Whole-exome sequencing (WES) identified a hemizygous, previously unreported PHKA2 variant [NM_000292.3:c.2517+5G>T, genomic location (GRCh38): NC_000023.11: g.18907895G>T], initially classified as a variant of uncertain significance (VUS) under American College of Medical Genetics and Genomics (ACMG) criteria. RNA sequencing of peripheral blood leukocytes demonstrated predominant exon 22 skipping in 94.2% of informative junction reads, predicting a frameshift and premature termination codon [p.(Gly788Profs*74)] with predicted loss of the C-terminal CBL 2 subdomain. Incorporating this transcript-level evidence, the variant was reclassified as pathogenic (PVS1 + PM2_Supporting + PP4). Following dietary management with uncooked cornstarch supplementation, the patient showed progressive biochemical improvement over a 2.2-year follow-up. CONCLUSIONS: This case expands the mutational spectrum of PHKA2 and demonstrates that RNA sequencing of accessible tissues is a practical and diagnostically informative strategy for resolving noncanonical splice-region variants in pediatric hepatic GSD. Early hepatic fibrosis detected by histological examination before age 3 years underscores the importance of longitudinal hepatic surveillance in GSD IX α2.

Glycogen storage disease type IX α2 (GSD IX ↗

PubMed1976

[Advances in gammaencephalography for the study of intercranial lesions].

Simultaneously to the development of new techniques such as the computerized axial tomography, the gamma-angioencephalography is progressing in the field of cerebral investigation in its original way, keeping on non invasing character. In view to analyze this evolution we shall examine first its technical possibilities, then the extractible data of the various techniques. Finally we will consider in which way we must bring most of our effort for the best utilization of the gamma-angioencephalography in the routine work, on one hand, and for progressing in the knowledge of the physiopathology of some lesions, specially vascular accidents, on the other hand. Technical modalities are multiple. Besides the standard technique (pertechnetate angiography with rapid sequential views, regional transit curves, early and late static views) it is possible to replace or to repete the injection: --changing the patient's position, --using another radiopharmaceutical labelled with technetium -or another isotope, or two tracers for two compartments; --carrying out a pharmacodynamic or CO2 test, --using radioxenon, and secondly a pure vascular tracer, to measure relative regional blood pool and relative regional blood flow. a) morphological ones (vascular tracks, regional blood pool, radioactive areas: number, form, homogeneity, outline), b) dynamic and quantitative ones (transit times, blood flow, extravascular diffusion, changes of these parameters when changing the radiopharmaceutic, or when using a test). Progresses can take place in three ways, very closely related to each other: a) In the methodology, to precise --relative merit of the different radiocompounds according to the various cerebral lesions, --methods for examination according to the clinical problems, --computing and date processing techniques. b) In the indications, to choose the best, the simplest, though the surest method for the daily clinical problems, and the best one to assemble special information escaping to the morphological radiological techniques. This choice needs frequent and close discussions between clinicians and nuclear specialists. c) In the signification of the data, to interprate correctly: --preferential uptakes in lesions or in compartments, --changes in the relative volumes of vascular bed and extravascular space in lesions, --vascular reactivity to an hemodynamic test, --accumulation or clearance of a diffusible tracer such as xenon. It is not always easy to reach a non equivocal interpretation of a whole group of data. It can be better to give a descriptive analysis which brings together elements for the diagnosis and physiopathological observations helpful for a therapeutic action and to follow up the disease at short and long term.

Blood Flow Velocity↗

PubMed1979

[Possibilities of the clinical comparison of diseases with a hereditary burden in the descendant generation using the model of "parents-children" ill with schizophrenia].

A special statistic method of confrontation of diseases with aggravation hereditary in the group "parents - children" is proposed. This method can be used under clinical formalization of the diseases. It is shown on a model group parents - children (118 pairs) suffering with schizophrenia, that statistical confrontation makes possible to work out group and individual prognoses in the descending generation. It is found that invariability in the descending generation is provided by a small number of stable indices, other symptoms being variable. Statistic description of the disease symptoms in the descending generation is of interest for planning genetic interpretation.

Adult↗

PubMed1978

Murine Ia antigens: identification and mapping of Ia.23 and further definition of the I-E subregion.

The Ia.23 specificity is a private specificity of the H-2d haplotype which we have assigned to the I-E subregion. It is found on the same Ia molecule that bears Ia.7, a public specificity previously assigned to the I-C subregion of haplotypes H-2d, H-2k, H-2p and H-2r. We suggest a reassignment of specificity Ia.7 to the I-E subregion to simplify the interpretation of the data presented in this paper and elsewhere, and to permit an orderly description of that part of the I region to the right of I-J.

Animals↗

PubMed1979

[Historical reminiscences: the schizophrenic psychosis of the Empress of Mexico (author's transl)].

Quite a number of reports have been published on psychotic developments in the mental make-up of kings and rulers, especially during the past century. Particularly remarkable is the great interest which has been evinced to date on the fate of King Ludwig II of Bavaria. On the other hand, the tragedy of the Belgian Princess Charlotte, who was Empress of Mexico for a few years by the side of her husband, Maximilian of Austria, is hardly known. I could not find anything about her in psychiatric literature, but there are numerous biographical hints in books on history dealing with the dramatic episode of the short-lived Mexican empire. I found some of the most essential information on the personality and psychosis of Empress Charlotte in the book written by Countess H. de Reinach-Foussemagne. The following description is necessarily sketchy and should be considered as a preliminary report to a more comprehensive interpretation of Charlotte's personality.

Famous Persons↗

PubMed1977

Mechanisms of hepatic bile formation.

It should be evident from this review of recent investigations that we are still very far from a consistent description of bile formation, much less a satisfactory understanding. Nevertheless certain broad conclusions emerge. Four distinct kinds of active solute transport can be identified, and because bile always has nearly the same osmotic pressure as plasma, each of them is a determinant of bile flow. 1. Concentrative transport of water-soluble organic constituents, of which bile acids are quantitatively most important, occurs in the canaliculi accompanied by the passive flow of water and inorganic electrolytes. Owing to micelle formation the osmotic force for this flow is largely attributable to Na+ ions that accompany the bile acids anions. 2. The canalicular flow obligated by the excretion of bile acids is supplemented by the entry of additional fluid, the so-called bile acid-independent canalicular fraction. Because no organic component has been identified to account for this phenomenon, the active transport of one or more inorganic ions is probably responsible. The limited evidence available at present suggests that Na+ ions is the most likely candidate. 3. The extralobular biliary epithelium can modify the flow and composition of bile by the reabsorption of inorganic ions--a process which resembles reabsorption from the gallbladder in the sense that bile in the lumen remains iso-osmotic with plasma while bile acids and the other organic constituents are concentrated. 4. Under the influence of secretin, and to a lesser degree other intestinal hormones, the ducts or ductules can secrete additional fluid in which HCO3- is concentrated with respect to plasma. A fifth component of bile is generated by the canalicular excretion of phospholipid and cholesterol, but these are insoluble in water and are incorporated into micelles, and, therefore exert no osmotic force. The existence of these processes is inferred from studies of many different species, and it should be emphasized that the picture is a composite one. For example, distal fluid reabsorption has been convincingly demonstrated only in dogs and monkeys, and secretin is not a choleretic in rats or rabbits. It should also be clear that the actual mechanisms of solute transport remain poorly defined. Thus the term active transport in the present context should be thought of in its general thermodynamic sense rather than as denoting any particular transport mechanism. For the future, the most pressing problems are methodologic. To mention only three that seem especially important: ways must be found to sample bile closer to its origin; the proper interpretation of studies with isolated liver cell membranes will require unambiguous methods to certify their source; and descriptions of transport kinetics must somehow be refined to reflect the effective intracellular concentration of solutes as well as their distribution within the liver lobule.

Adenosine Triphosphatases↗