PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “Abnormalities, Multiple”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 145 records · Page 8Linked to original sources
PubMed2026

Novel biallelic FSIP2 variants cause male infertility with multiple morphological abnormalities of sperm flagella in humans.

Biallelic variants in fibrous sheath-interacting protein 2 ( FSIP2 ) gene are a known cause of multiple morphological abnormalities of the sperm flagella (MMAF). This study aimed to identify novel FSIP2 variants and evaluate their impact on sperm ultrastructure and intracytoplasmic sperm injection (ICSI) outcomes. Whole-exome sequencing (WES) was employed to screen a cohort of 92 MMAF patients, with candidate variants validated via Sanger sequencing and third-generation sequencing. We identified one homozygous variant in a proband from a consanguineous family and two pairs of compound heterozygous variants in two unrelated, non-consanguineous families. Routine semen analysis demonstrated markedly reduced motility across all probands. Detailed morphological and ultrastructural assessments using Papanicolaou staining, scanning electron microscopy (SEM), and transmission electron microscopy (TEM) demonstrated that approximately 80.0% of spermatozoa exhibited pathological elongation of the mitochondrial sheath in the midpiece. Furthermore, 50.0%-70.0% of spermatozoa displayed fibrous sheath dysplasia or loss in the principal piece. Immunofluorescence assays and Western blotting confirmed that FSIP2 protein localization was disrupted, and the expression of key axonemal assembly factors was dysregulated. Notably, successful pregnancies were achieved via ICSI in the partners of two probands. This study expands the mutational spectrum of FSIP2 in both consanguineous and non-consanguineous populations. Ultrastructural abnormalities, such as mitochondrial sheath elongation and fibrous sheath disassembly, highlight FSIP2 's critical role in flagellar assembly. Clinical results further support ICSI as an effective therapeutic intervention for affected individuals.

Humans↗
PubMedDate not supplied

Stapedius reflex abnormalities in multiple sclerosis.

Thirteen patients suffering from multiple sclerosis were analyzed by a Madsen ZO 70 electroacoustic bridge connected to an electronystagmograph through an impedance adaptor. Threshold, amplitude, decay and difference limen of intensity (DLI) of the stapedius reflex were examined for the frequencies 500, 1 000, 2 000 and 4 000 Hz. The difference between standard audiometric results and stapedius reflex data stresses the value of reflex measurements in assessing brain stem pathology.

Acoustic Stimulation↗
PubMed1989

Primary hyperparathyroidism. A surgical perspective.

Primary hyperparathyroidism is a common disorder and one that can usually (approximately 95%) be successfully treated by parathyroidectomy. PTH assays have become quite accurate for confirming the diagnosis. In patients with malignancy-associated hypercalcemia, parathyroid-like protein levels are usually increased, and radioimmunoassays being developed to quantitate serum levels of this protein will make the diagnosis easier. Treatment for a parathyroid adenoma is removal of the tumor and identification of the normal parathyroid glands. Treatment for primary or secondary hyperplasia is usually subtotal parathyroidectomy. Recurrent hyperparathyroidism is uncommon, except in patients with familial hyperparathyroidism, MEN-1 parathyroid carcinoma, or renal failure and secondary hyperparathyroidism. Persistent hyperparathyroidism is more common and is usually due to surgeon inexperience, but it is also caused by ectopically situated parathyroid glands, multiple abnormal parathyroid glands, or supranumerary parathyroid glands. Preoperative localization studies using ultrasound, thallium-technetium scanning, MRI, or CT scanning are reliable in patients with solitary parathyroid adenomas, but often fail to detect all of the abnormal parathyroid tissue in patients with multiple abnormal parathyroid glands. Intraoperative use of urinary cyclic AMP assays and rapid PTH assays have recently been used experimentally during parathyroid explorations to determine whether all hyperfunctioning parathyroid tissue has been removed, but these methods are not yet reliable or fast enough to be generally accepted. Most patients with primary hyperparathyroidism who are successfully treated by parathyroidectomy experience psychological, clinical, and metabolic benefits.

Calcium↗
PubMed1989

[Early amnion rupture as a cause of multiple congenital abnormalities in the newborn infant].

We describe two children with congenital deformities due to the early amniotic rupture syndrome. One child who had an amniotic band around the upper arm suffered from a distal nerve lesion. This was relieved following surgery. The second child died shortly after birth of multiple congenital malformations. The most usual findings in this syndrome are constriction of a limb by an amniotic band, scoliosis or syndactyly due to oligohydramnion with compression. We discuss one accepted hypothesis (subscribed by an experimental animal study) of the aetiology of the early amniotic rupture syndrome.

Abnormalities, Multiple↗
PubMed1971

Multiple immunological abnormalities in a family.

The family of a woman with multiple autoimmune diseases has been investigated. Clinical evidence of an autoimmune disorder was detected in two relatives, and five others had serological and immunoglobulin abnormalities. It is suggested that there is an inherited predisposition to develop immunological abnormalities, and that a number of associated autoimmune diseases may develop in families in which this occurs.

Adult↗
PubMed1991

Cognitive abnormalities in multiple sclerosis: a psychometric and MRI study.

This study reports the cognitive abnormalities of a group of 58 patients with definite multiple sclerosis (MS). The psychometric functions measured were: 'IQ deficit', verbal and visual memory, abstracting ability, visual and auditory attention and naming ability. The presence of brain pathology was investigated using magnetic resonance imaging (MRI). A group of 46 physically disabled controls without significant brain disease was used for comparison. Normative MRI data were obtained from a group of 40 normal volunteers. The psychometric performance of the MS group was compared to the previously reported findings in patients with clinically isolated syndromes. MS patients had widespread cognitive deficits sparing naming ability and affecting verbal memory less severely than other intellectual functions. The overall performance on psychometric tests was related to the severity of the MRI abnormalities and to the duration of the illness, but was not significantly influenced by the presence of psychiatric morbidity or the degree of physical disability. Patients with clinically isolated syndromes occupied an intermediate position between MS patients and disabled controls in terms of cognitive and MRI abnormalities.

Activities of Daily Living↗
PubMed1978

Thoracic and pulmonary abnormalities in multiple myeloma. A review of 958 cases.

Review of the records of 958 patients with multiple myeloma disclosed thoracic skeletal or pleuropulmonary abnormalities or both in 443 patients (46%). The abnormalities were an initial finding on 25% of the chest roentgenograms. The most common finding, exclusive of plasmacytomas, was thoracic skeletal abnormality in 28% (the initial finding in 15%)--osteolytic lesions being the most frequent abnormality. Localized or diffuse pulmonary infiltrates, most often caused by infections, were present in 10%. Four patients had a diffuse infiltrate thought to be caused by a plasma cell infiltrate (proven in one). In 113 patients, plasmacytomas were seen (intramedullary 102, extramedullary 11)--as an initial finding in 8%. Fifty-eight patients (6%) had pleural effusions. Eight patients with pleural effusion caused by myeloma are added to the eight cases reported in the literature.

Humans↗
PubMed1986

Progressive multiple sclerosis: abnormal immune functions in vitro and aberrant correlation with enumeration of lymphocyte subpopulations.

In a series of 27 consecutive progressive multiple sclerosis (MS) patients under age 50 we have simultaneously measured 3 in vitro immune functions and 6 markers and compared their results to a group of 21 controls. We have confirmed a reduction of concanavalin A (Con A) -induced suppression and NK function contrasting with increased IgG secretion in response to pokeweed mitogen (PWM). Among 6 monoclonal antibody-recognized subpopulation (Leu 1, Leu 2, OKT8, Leu 3, Leu 7 and Leu 11) only Leu 2+ lymphocytes were statistically reduced. OKT8+ were slightly reduced, Leu 3+ were slightly increased. Discriminant analysis revealed that the 3 immune functions together with the results of OKT8 and Leu 3 enumeration were sufficient to appropriately classify most of the individuals. Only 3 MS and 4 controls were misclassified. Correlation analysis suggested disappearance of the doubly labelled OKT8/Leu 7 population in MS patients. In MS as opposed to controls Con A-induced suppression did not correlate with suppressor cell markers but correlated with NK cell markers suggesting that in MS this population mediates Con A-induced suppression. IgG secretion and Con A suppressor cell function were inversely correlated in MS patients but not in controls, suggesting that in chronic progressive multiple sclerosis a common abnormality underlies both increased response to PWM and decreased induction of suppression by Con A.

Adult↗
PubMed1989

Cognitive and psychiatric abnormalities in multiple sclerosis.

In multiple sclerosis, behavioral changes, including alterations in cognitive functions and psychiatric abnormalities, have been recognized with increasing frequency in recent years. Multiple sclerosis formerly was thought to be primarily a disorder of the brain stem and spinal cord; however, functional changes that can be attributed, at least in part, to cerebral dysfunction are being recognized. Certain cognitive functions such as memory and conceptual processes seem to be preferentially impaired. The degrees of impairment of other functions such as attention and visuospatial skills are now being evaluated. Psychiatrically, affective disorders seem to be the most common diagnoses, and debate exists about whether these abnormalities are a function of the demyelinating process itself or are a reaction to the disability produced by the disorder.

Dementia↗
PubMed1989

Complement abnormalities in multiple myeloma.

PURPOSE: Patients with multiple myeloma have been shown to have defective opsonization and C3 deposition. Previous studies have suggested that defective C3 deposition may be related to a failure of C3 activation in myeloma serum, the mechanism of which is unknown. We therefore decided to investigate the underlying mechanism responsible for the failure in C3 activation and deposition. PATIENTS AND METHODS: The study consisted of 10 patients from whom a total of 12 serum specimens were obtained. Normal serum was prepared from a pool of serum specimens in four healthy male donors. We evaluated, in vitro, the kinetics of C3 deposition onto zymosan using radiolabeled C3 under various conditions. We also measured the serum levels of a variety of complement components using standard methods. RESULTS: Five of 10 patients' sera demonstrated poor C3 deposition onto zymosan at all time points, whereas an additional two showed poor C3 deposition at early time points but a rebound to normal by 30 minutes. Multiple components of the classical and alternative complement pathways were decreased in many patients, with the most striking abnormalities occurring in those with the poorest C3 deposition. No single complement component abnormality was found to be common to the group. Elevations in Bb fragment concentration strongly suggest in vivo activation as the likely mechanism for depletion of alternative pathway components; the mechanism for classical pathway abnormalities is less clear. There was an inverse correlation between paraprotein concentration and abnormal C3 deposition (p less than 0.0001) and C3 (p less than 0.0005) and C4 (p less than 0.0001) concentrations. However, no consistent evidence of fluid-phase complement consumption was present. CONCLUSION: The defect in C3 activation and deposition in multiple myeloma cannot be explained on the basis of a single complement component abnormality but rather is due to a heterogeneous group of complement abnormalities. Although no correlation between in vitro abnormalities and clinical status was identified in this small group of patients, it is likely that the described complement defects play an important role in defective host defense in multiple myeloma.

Complement Activation↗
PubMed1988

Multiple karyotypic abnormalities, including structural rearrangements of 11p, in cell lines from malignant melanomas.

Cell lines were obtained from three malignant melanoma patients by culturing cell suspensions from tumor biopsies. A total of six lines (I to VI) were established. One line each was established from the first two cases. Lines III and IV were established from two different methyl cellulose colonies derived from the primary tumor of case 3; line III was from a non-pigmented and line IV from a pigmented colony. Cloning of line IV resulted in two highly malignant (IV Cl 1 and IV Cl 3) and one less malignant (IV Cl 2) clone. Clone IV Cl 1 was inoculated intracardially in nude mice and gave rise to adrenal and brain metastases. Lines V and VI were derived from such metastases. Multiple structural and/or numerical chromosome abnormalities were detected in all lines. Line I had 57-61 chromosomes, with structural changes affecting 1p, 2p, 3q, 7p, 7q, 11p, 14q, 17q, and 22q, as well as one unidentified marker. Line II had 40-48 chromosomes, with structural changes of 1p, 1q, 4q, 5p, 6p, 8p, 11p, 11q, 14p, 20p, and two unidentified markers. Line III had 45 chromosomes, 6q+, del(11p), and a centric fusion between chromosomes 14 and 15. Line IV had 45-46 chromosomes. The clonal changes included rearrangements of 1p, 9p, 11p, and the centric fusion of chromosomes 14 and 15. Line V was pseudodiploid and contained aberrations of 1p, 9p, 11p, 14q, 20q, an isochromosome for 21q, and an unidentified marker. Finally, the pseudodiploid line VI had changes of 9p, 11p, centric fusion of chromosomes 14 and 15, and an unidentified marker. Although no single identical aberration was shared by all six lines, structural abnormalities of 11p were invariably present and, hence, might constitute a common cytogenetic feature in melanoma development. The most consistent difference between the amelanotic and melanotic lines derived from case 3 was the presence of a 6q+ marker in the former and a 9p+ marker in the latter.

Chromosome Aberrations↗
PubMed1987

The relevance of contralateral recordings and patient disability to assessment of brain-stem auditory evoked potential abnormalities in multiple sclerosis.

Brain-stem auditory evoked responses (BAER) were recorded in a group of 83 patients with a diagnosis of clinically definite or probable multiple sclerosis to assess the relevance of recording contralateral responses simultaneously with ipsilateral responses and to correlate patients disability with the detection of abnormalities. The contralateral responses generally mirrored the ipsilateral responses, but in seven patients the responses differed, mainly involving the presence or absence of wave V. However, contralateral recordings did not contribute significantly to the sensitivity of lesion detection, and their main value was to aid in the recognition of waves when they were not clearly seen in the ipsilateral recordings. The BAER abnormality rates were found to be significantly correlated with disability, and it is suggested that this is an important variable to consider when undertaking or comparing results of BAER studies in patients with multiple sclerosis.

Adolescent↗
PubMed1986

Contribution of pattern reversal foveal and half-field stimulation to analysis of VEP abnormalities in multiple sclerosis.

Multichannel pattern reversal visual evoked potentials (PRVEPs) from full-field (FF), half-field (HF) and foveal (central-field, CF) stimulation were recorded in 112 mildly disabled multiple sclerosis (MS) patients with the aim of evaluating the contribution of HF and CF stimulation in this disease. CF stimulation was marginally more sensitive in detecting abnormalities (75% of patients) than FF stimulation (71% of patients). However, more importantly the two techniques were found to be complementary with the maximum number of abnormalities (79% of patients) resulting from a combination of the results. Abnormal FF responses were further evaluated by HF responses. P100 latency prolongation indicative of conduction delay was the most common finding but one-third of abnormalities consisted of disturbances of wave form relating to conduction block predominantly in macular fibres. Furthermore 34% of patients had an absent or indeterminate response to CF stimulation thus providing electrophysiological confirmation of the preferential involvement of macular fibres in MS. Although electrophysiological abnormalities were localised to the optic nerve in the majority of cases, some patients also had evidence of retrochiasmatic and chiasmatic lesions. In the majority of cases CF stimulation proved to be a useful alternative to HF stimulation in evaluating FF responses with abnormal wave forms. The study also suggested that an important factor determining whether a central scotoma will disturb the morphology of the FF VEP in the midline recording channel is the position of the macular representation in the occipital cortex. It is concluded that with multichannel recording and the additional use of CF and HF stimulation it is possible to increase the yield of PRVEP abnormalities found in MS and to define their nature with considerably greater precision.

Adult↗
PubMed1977

Peripheral nerve abnormality in multiple sclerosis.

Biopsy specimens of sural nerve from 10 patients with multiple sclerosis (MS), of whom only 1 was severely disabled, were assessed by morphometric techniques and compared to nerves from age-matched controls. The frequency of abnormal teased fibers was increased in MS nerve, with many internodes showing at least a 50% reduction in myelin thickness. Myelinated nerve fiber densities were not significantly different in MS and control nerves. Regression analysis of axonal area on number of myelin lamellae indicated a generalized reduction of myelin lamellae in this disorder. It is suggested that peripheral myelin may be involved in multiple sclerosis.

Axons↗