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At least 865 records · Page 48Linked to original sources
PubMed1990

[A new variant of the popliteal artery compression syndrome].

The authors describe a new variant of the popliteal artery across the lateral head of the gastrocnemius muscle. Therefore a new more simple classification is proposed: type I-III. A further differentiation in subgroups as Ia, IIa according to Insua has no clinical value. A posterior approach to the popliteal artery gives a detailed view of the anatomic structures such as muscle and band origin. A medial incision should be chosen if crural reconstruction is expected.

Aneurysm↗
PubMed2005

Varus impacted intracapsular hip fractures.

We describe a distinct variant of an impacted intracapsular hip fracture that is difficult to classify within any of the current fracture classification systems. Instead of impaction occurring laterally, as generally occurs with a Garden grade I fracture, there is medial impaction. We have termed this a varus impacted fracture. Nineteen such fractures were identified. The majority of these patients presented with a history of progressive hip pain over several days without a definite history of trauma. For the 16 fractures treated by internal fixation without any attempt at fracture reduction, fracture healing occurred in 11 cases.

Aged↗
PubMed2005

Delusional versus nondelusional body dysmorphic disorder: clinical features and course of illness.

DSM-IV's classification of body dysmorphic disorder (BDD) is controversial. Whereas BDD is classified as a somatoform disorder, its delusional variant is classified as a psychotic disorder. However, the relationship between these BDD variants has received little investigation. In this study, we compared BDD's delusional and nondelusional variants in 191 subjects using reliable and valid measures that assessed a variety of domains. Subjects with delusional BDD were similar to those with nondelusional BDD in terms of most variables, including most demographic features, BDD characteristics, most measures of functional impairment and quality of life, comorbidity, and family history. Delusional and nondelusional subjects also had a similar probability of remitting from BDD over 1 year of prospective follow-up. However, delusional subjects had significantly lower educational attainment, were more likely to have attempted suicide, had poorer social functioning on several measures, were more likely to have drug abuse or dependence, were less likely to currently be receiving mental health treatment, and had more severe BDD symptoms. However, when controlling for BDD symptom severity, the two groups differed only in terms of educational attainment. These findings indicate that BDD's delusional and nondelusional forms have many more similarities than differences, although on several measures delusional subjects evidenced greater morbidity, which appeared accounted for by their more severe BDD symptoms. Thus, these findings offer some support for the hypothesis that these two BDD variants may constitute the same disorder. Additional studies are needed to examine this issue, which may have relevance for other disorders with both delusional and nondelusional variants in DSM.

Adolescent↗
PubMed2000

Signet-ring cell carcinoma of the breast.

Primary signet-ring cell carcinoma of the breast is a very rare tumor and is not recognized as an independent entity of the World Health Organization classification of breast tumor. Primary signet-ring cell carcinoma of the breast is usually considered as a variant of mucinous carcinoma or lobular carcinoma and usually originates from the lobular epithelium. A case of primary signet-ring cell carcinoma of the breast in a 68-year-old woman is presented. Histologically, the majority of neoplastic cells had an intracytoplasmic mucin collection. The histological presence of ductal carcinoma in situ, absence of lobular lesion and immunoreactivity for estrogen and progesterone receptors implicated the tumor cells arising from ductal epithelium. The papillary or organoid growth pattern is characteristic in this case. The patient underwent a modified radical mastectomy and was subsequently followed up for 6 months.

Aged↗
PubMed2002

Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant?

We report on a female infant with postaxial polydactyly of the hands, preaxial polydactyly of the right foot, cleft palate, microglossia and tongue hamartomata consistent with an oral-facial-digital syndrome (OFDS). The patient also had optic nerve colobomata, a Dandy-Walker malformation, micrognathia and apneic spells. This combination of clinical features has not been previously reported. This patient either expands the clinical features of one of the existing OFDS or represents a new variant. A review of the literature highlights the difficulties in making a specific diagnosis because of the different classification systems that exist in the literature.

Abnormalities, Multiple↗
PubMed1984

The plasma protease inhibitor system (Pi) of Standardbred horses.

The plasma protease inhibitor system (Pi) of Standardbred horses was studied by thin-layer, high-voltage, acid polyacrylamide gel electrophoresis (pH 4.6) followed by protein staining and staining for trypsin and chymotrypsin inhibition. In addition to the eight Thoroughbred alleles (PiF, G, I, L, N, S1, S2, U), another 10 alleles, designated PiH, J, K, O, P, Q, R, V, X, Z, were postulated to account for the 98 Pi types which were observed in Standardbreds. Detailed inhibitory spectra of the 'new' alleles were determined and further exceptions to the Pi1, Pi2 classification of Juneja et al. (1979) were found. Limited family data demonstrated the genetic nature of the 'new' variants and confirmed the allelic inheritance of the 'new' Pi variants.

Alleles↗
PubMed2006

Adult abdominal migraine: a new syndrome or sporadic feature of migraine headache? A case report.

Abdominal migraine is one of the variants of migraine headache typically occurring in children and coded as 1.3.2 in the revised edition of IHS classification within the group 'Childhood periodic syndromes that are commonly precursors of migraine'. The affected children frequently develop typical migraine later in their life. We report a case of a 23 years old woman affected by attacks of recurrent abdominal pain accompanied by migraine. Abdominal pain attacks started in the adolescence and persisted without headache until the patient was 21. At this time, she experienced migraine pain accompanied by nausea, photophobia and phonophobia and associated to acute abdominal pain. Neuroimaging investigations and laboratory testing excluded any underlying organic disease. Complete remission of abdominal attacks was obtained during 4-month treatment period with pizotifen. Attacks fulfil IHS diagnostic criteria for 'abdominal migraine', although of late onset. This case report suggests that 'abdominal migraine' is a migraineous disorder to be hypothesized in adult patients after having disclosed any organic disease. As reported in the literature, 'adult abdominal migraine' is a sporadic migraine subtype in adult patients and it is not to be considered as a new migraineous syndrome.

Abdominal Pain↗
PubMed1996

Unusual cutaneous lymphomas.

BACKGROUND: New variants of cutaneous lymphoma other than mycosis fungoides and Sezary syndrome continue to be described. OBJECTIVE: A practical classification of cutaneous lymphomas is presented with detailed discussions of angiocentric T cell lymphoma, subcutaneous T cell lymphoma, and malignant angioendotheliomatosis. METHODS: The recent pertinent medical literature relating to unusual cutaneous lymphomas is reviewed. RESULTS/CONCLUSION: The utilization of immunohistochemistry in the dermatopathology laboratory has greatly enhanced the ability to recognize and categorize cutaneous lymphoma. Some illnesses previously believed to be non-neoplastic diseases are malignant lymphomas.

Humans↗
PubMed2004

Current state of clinical and morphological features in human NCL.

The neuronal ceroid lipofuscinoses (NCL) are a large group of autosomal recessive lysosomal storage disorders with both enzymatic deficiency and structural protein dysfunction. Previously, diagnosis of NCL was based on age at onset and clinicopathological (C-P) findings described 4 forms, classified as infantile (INCL) (2), late-infantile (LINCL) (5), juvenile (JNCL) (6), and adult (ANCL) (12). Most patients with NCL have progressive ocular and cerebral dysfunction, including cognitive/motor dysfunction and uncontrolled seizures. After reviewing 520 patients with NCL, we found that about 104 (20%) did not fit this classification of NCL. With further research, 4 additional forms have been recognized: Finnish (13), Gypsy/Indian (14), Turkish (15)--variants of LINCL, and Northern epilepsy (16), also known as progressive epilepsy with mental retardation. These eight NCL forms resulted from 151 different mutations in genes CLN1 to CLN8 causing different phenotypes (http://www.ucl.ac.uk/ncl). The genes CLN1 and CLN2 encode lysosomal palmitoyl protein thioesterase and tripeptidyl peptidase 1. The diagnosis of NCL is based on clinicopathological (C-P) findings, enzymatic assay, and molecular genetic testing. Ultrastructural studies must be performed to confirm the presence and nature of lysosomal storage material (fingerprint or curvilinear profiles, or granular osmiophilic deposits) before doing biochemical testing. Pheno/genotypic correlation studies are discussed.

Adult↗
PubMed2005

Genetic and environmental factors in monozygotic twins with Crohn's disease and their first-degree relatives: a case report.

BACKGROUND/AIMS: Familial Crohn's disease has shown concordance concerning location and clinical type of the disease especially among monozygotic twins. Susceptibility to Crohn's disease is both based on genetic and environmental factors. We investigated polymorphisms of CARD15, TLR4, and OCTN, and environmental factors in a monozygotic twin pair with Crohn's disease and their first-degree relatives. METHODS: 22-year-old monozygotic female twins with ileocolonic Crohn's disease and their healthy brother and parents were examined. DNA samples from patients and relatives were genotyped for CARD15, TLR4,and OCTN polymorphisms. ASCA and p-ANCA analyses were performed. Additionally, patients and relatives filled out a questionnaire concerning multiple environmental factors. RESULTS: Both twins presented in the same year with identical Vienna Classification phenotypes: stenotic behavior (B2) and localization in terminal ileum and colon (L3). Both carried a CARD15 R702W variant, but had normal alleles in TLR4 and OCTN. They were smokers since the age of 15, used oral contraceptives and had undergone appendectomy. The healthy father and brother were CARD15 R702W positive, were non-smokers and had not undergone appendectomy. CONCLUSION: This case report is the first to describe complete concordance in CARD15 status, phenotypic appearance, and smoking, appendectomy and oral contraceptive use in a pair of monozygotic twins with CD.

Adult↗
PubMed2026

Emerging genes implicated in human congenital heart disease: a 2023-2025 scoping review.

BACKGROUND: Congenital heart disease (CHD) is the most common major congenital anomaly and a leading cause of infant morbidity and mortality. The rapid expansion of genomic technologies has accelerated the discovery of rare genetic variants implicated in CHD pathogenesis. However, most individuals with CHD still lack an identifiable molecular etiology. The purpose of this scoping review is to systematically characterize genes reported in the recent literature as candidate CHD-associated genes and contextualize these findings within the stages of cardiac morphogenesis. METHODS: PubMed was searched using predefined terms related to CHD and genetic variants, supplemented by a prospectively maintained internal database. We included human studies published between January 2023 and December 2025 that identified pathogenic, likely pathogenic, or uncertain monogenic variants in at least one patient with CHD. Animal-only studies, chromosomal abnormalities, copy number variants, multigenic associations, transcriptomic/proteomic analyses, reviews, and maternal-only genetic studies were excluded. Gene-disease validity classifications were assigned using the Clinical Genome Resource (ClinGen) CHD Gene Curation Expert Panel framework. RESULTS: Of 2,834 screened articles, 391 studies met inclusion criteria, identifying 912 unique genes reported as candidate CHD-associated genes. Frequently reported genes included PTPN11, NOTCH1, GATA4, JAG1, MYH6, GATA6, and LZTR1. Identified genes spanned all major stages of cardiogenesis, including developmental priming, cardiac progenitor specification, left-right axis formation, neural crest migration, outflow tract development, septation, and postnatal structural remodeling. Studies increasingly implicated ciliary dysfunction, transcriptional regulation, ribosomal biology, and multigenic inheritance in CHD pathogenesis. Emerging methodologies included stem cell-derived cardiac models, machine learning-based gene prioritization, and epigenetic analyses. CONCLUSIONS: Recent literature substantially expands the catalog of candidate genes that may be associated with CHD and highlights the biologic complexity underlying cardiac morphogenesis. Integration of genomic, developmental, and functional approaches will be essential to improve mechanistic understanding, refine genetic counseling, and support future precision medicine strategies for CHD.

Cardiac development↗
PubMed2004

Creutzfeldt-Jakob disease surveillance in Australia January 1970 to December 2003.

The Australian National Creutzfeldt-Jakob Disease Registry (ANCJDR) was established by the Commonwealth Government in October 1993 in response to the recognition of four probable human pituitary hormone related Creutzfeldt-Jakob disease (CJD) deaths. An inquiry into CJD in Australia and the use of human pituitary hormones under the Australian Human Pituitary Hormone Program suggested the expansion of some activities of the Registry to include retrospective case ascertainment from 1 January 1970. In parallel with monitoring possible medically acquired (iatrogenic) cases of CJD, the ANCJDR prospectively monitors and investigates all suspect cases of transmissible spongiform encephalopathies occurring within the states and territories of Australia, including sporadic and familial, and the potential occurrence of variant CJD. The ANCJDR also actively participates in an international surveillance consortium. This brief report summarises methods of classification and ascertainment as well as current epidemiological findings and new surveillance techniques that are being adopted to improve case ascertainment.

Adult↗
PubMed1991

[Rational morphologic classification of disorders of placental maturation].

Existing morphologic classifications of placenta immaturity are analyzed on the basis of stages of the placenta villi normal histogenesis. 6 variants of its pathologic immaturity are distinguished: mesenchymal, embryonal, intermediate and differentiated villi, variant of chaotic sclerotized villi, variant of precocious villi maturation. These variants result in the foetal hypotrophy or its death at all stages of its antenatal development. 2 variants comprise a relative placenta immaturity: variant of a dissociated development of kotiledons and that of deficiency of terminal specialized villi. They occur in both risk groups of newborns and in normal pregnancy. Revealing of the above variants allows one to determine the time of the antenatal damage of developing placenta.

Chorionic Villi↗
PubMed1990

[Flexible screening for psychological effects of neurotoxic exposure--concept and initial empirical findings].

On the basis of the unsatisfactory efficiency of the present screening method (sensitivity: 55%, specificity: 75%) the new conception of a flexible screening method for psychic impairments in case of neurotoxic occupational exposure is introduced. This method integrates different problem-relevant psychodiagnostic dimensions already at screening level and allows adaptation to differentiated aims, conditions and populations of investigations thanks to variable effort control and a variety of investigation and evaluation methods that can be used. The empirical trial of 11 concrete screening variants results in a markedly better sensitivity and specificity (80% to 90%). This essential increase in the diagnostic classification quality justifies the higher effort in terms of psychological investigation capacity necessary for high-quality screening. Some aspects of its further practical application are touched because even the first partial implementations testify the high degree of efficiency and practical relevancy of the flexible screening conception.

Humans↗
PubMed1987

[Cancer of the valleculal and laryngeal vestibule treated by supraglottic horizontal laryngectomy. Apropos of 173 surgically treated cases at the Institut Gustave-Roussy].

The authors make a report on a series of 173 supraglottal horizontal laryngectomies carried out from 1970 to 1984 at the Gustave-Roussy Institute of Villejuif. After recalling of operability conditions and tackling characteristics of this series are quoted variants required from tumours localisations diversity and importance of extension. Then are treated clinical and anatomo-pathological classification as briefly surgeries results. This work is specially concerning in survival by analysing different topographical clinical and histological criteria. Survival of 173 patients, having gone through an supra-glottal laryngectomy is 45.5% at 3 years and 31.3% at 5 years. At least, reasons of failure are analysed. This kind of partial surgery caring of voice, should be proposed to patients affected by vallecula or epiglottis carcinomas as regards of good functional and improved carcinological results.

Adult↗
PubMed1983

[Nephroblastoma: clinico-morphological characteristics and problems of classification].

Clinical and morphological examinations were carried out in 159 children with nephroblastoma. A working histological classification of tumors with reference to prognosis is proposed. It includes typical (89 cases) and atypical (23 cases) variants of the tumor. Among typical tumors, those with predominance of nondifferentiated blastema are distinguished. The atypical tumors include tubular fetal rhabdomyomatous, cystic, sarcomatous (rhabdoid, clear cell) variants. A group of tumors with marked therapeutic pathomorphosis (27 cases) is distinguished among unclassified tumors. Unfavourable prognosis in tumors with predominance of undifferentiated blastema, sarcomatous variants, and tumors with marked therapeutic pathomorphosis is indicated. Attention is drawn to increased number of glomerulo-like structures and cell anaplasia as a possible unfavourable prognostic sign.

Adolescent↗
PubMed1982

[Discriminant functions for the diagnosis of twin zygosity from questionnaire data].

Discriminant and successive analyses of formalized data obtained on the basis of questionnaire response were carried out in 232 twin samples of the same sex to estimate a degree of their similarity. The data were taken from the Twin Register of the Institute of Medical Genetics and treated concerning three characters: 1) subjective estimation of the similarity; 2) distinguishing twins by other people; 3) the use of special marks. The variants of discriminantal functions allowing to divide twin zygosity into monozygotic and dizygotic groups have been obtained, the classification error being 4 to 6%. The tables with diagnostic coefficients for twin zygosity diagnosis constructed on the basis of successive analysis are presented.

Adolescent↗
PubMed2026

Epidermolysis Bullosa Classification and Current Approach to Diagnosis.

Epidermolysis bullosa (EB) is a heterogeneous group of rare genodermatoses marked by skin fragility and bullae formation induced by minor trauma. Pathologic variants in at least 21 genes are associated with EB, grouped into four major subtypes based predominantly on the plane of cleavage within the skin. EB simplex is characterized by epidermal bullae formation and is due to gene mutations that affect epidermal proteins, most commonly keratin filaments. Junctional EB is due to gene mutations affecting proteins in the basement membrane zone, causing a split within the lamina lucida of the dermal-epidermal junction. Dystrophic EB is characterized by subepidermal bullae formation and is due to mutations in the gene encoding type VII collagen, which makes up the anchoring fibrils in the papillary dermis. Kindler EB is the rarest subtype and may be associated with cleavage at various levels within the skin due to a mutation in the FERMT1 gene causing defects in kindlin-1, a protein associated with integrins and focal adhesions. Because EB is such a heterogeneous disease, an understanding of genotype-phenotype correlations is necessary to help guide management. Traditionally, the first step in diagnosis was inducing a blister that was biopsied for immunofluorescence mapping. Currently, the gold standard for diagnosis is a blood sample or buccal swab for extraction of genomic DNA via next-generation sequencing, which can identify the exact causative gene. A diagnosis of EB is life altering for patients and families alike. A firm understanding of EB classification and initial diagnostic workup can help dermatologists feel empowered to support and counsel families.

Humans↗