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At least 55 records · Page 3Linked to original sources
PubMed1976

Clinical details, cytogenic studies,and cellular physiology of a 69, XXX fetus, with comments on the biological effect of triploidy in man.

A triploid fetus, 69, XXX, aborted spontaneously at 26 weeks' gestation. It had multiple abnormalities including syndactyly of the hands and feet single palmar creases, hypoplasia of the adrenals and ovaries, hypertrophy of thigh muscles, and abnormalities of the brain. The placenta was large and showed hydatidiform degeneration. The pregnancy had been complicated by acute dyspnoea, pre-eclampsia, and postpartum haemorrhage. Detailed cytogenetic studies, using banding and fluorescence techniques, were performed on fetus and parents. Meiotic studies were made on the fetal ovaries. Muscle cell differentiation and electrophysiological relationships of cultured skin fibriblasts were examined in an attempt to study the way in which the extra haploid set of chromosomes exerts its effect on the phenotype. The antenatal diagnosis of late triploidy is discussed. The finding that 25 per cent of late triploids have spina bifida is further evidence that meningomyelocele has a genetic component and strongly suggests that this results from chromosomal imbalance or a regulatory gene disturbance.

Abnormalities, Multiple↗
PubMed1978

Raised alpha-fetoprotein levels in amniotic fluid and maternal serum associated with distension of the fetal bladder caused by absence of urethra.

Raised alpha-fetoprotein concentrations were found at 29 and 30 weeks' gestation in the amniotic fluid and maternal serum of a woman who presented in her seventh pregnancy with apparent polyhydramnios. The fetus had multiple abnormalities including gross distension of the bladder resulting from absence of the urethra, intestinal artresia, and a congenital heart defect.

Abnormalities, Multiple↗
PubMed2026

[Genetic analysis of a male with Multiple morphological abnormalities of sperm flagella combined with sperm head abnormalities due to compound heterozygous variants of DNAH1 gene and a literature review].

OBJECTIVE: To explore the clinical phenotype and genetic etiology of a male with Multiple morphological abnormalities of sperm flagella (MMAF) combined with sperm head abnormalities due to compound heterozygous variants of DNAH1 gene, with an aim to provide guidance for assisted reproductive technology in his family. METHODS: A man with MMAF combined with sperm head abnormalities who visited Women and Children's Hospital of Ningbo University in October 2024 was selected as study subject. Clinical data of the patient's family were retrospectively collected. Peripheral blood samples were collected from the patient and his spouse, and G-banding karyotyping and whole exome sequencing (WES) were carried out. Candidate variants were validated by Sanger sequencing. Conservation of the DNAH1 protein was queried on the UCSC website. The difference between wild type and variant DNAH1 proteins were analyzed using AlphaFold v3.0.1 and PyMOL v2.5.6. The pathogenicity of variant was rated based on the guidelines from American College of Medical Genetics and Genomics (ACMG). Previous literature was searched using keywords "DNAH1 gene" and "multiple morphological abnormalities of the sperm flagella" on CNKI, Wanfang Data Knowledge Service Platform, and PubMed database to identify cases of MMAF attributed to biallelic DNAH1 gene variants. The retrieval period was set from the establishment of the databases to December 31, 2025. The genotypes and clinical phenotypes of patients with biallelic DNAH1 mutations were analyzed. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: EC2023-094). RESULTS: The 30-year-old patient and his 30-year-old wife had infertility for 2 years. Semen analysis revealed no motile sperm and a 99.0% abnormal morphology rate. Typical MMAF was observed with phase-contrast microscopy. Sperm morphology analysis revealed abnormalities of the head, neck, and tail with an approximate ratio of 9:5:1. The patient's karyotype was 46,XY, and his wife's karyotype was 45,X[4]/47,XXX[1]/46,XX[84]. WES and Sanger sequencing revealed that the patient harbored compound heterozygous variants of the DNAH1 gene, namely c.1435_1444+3del and c.12204_12206del (p.Asn4069del), but their origin remained unidentified. UCSC genome browser query results showed that the amino acid residue at position 4 069 of the DNAH1 protein is highly conserved across various species. Protein structure prediction reveals that, in the wild-type DNAH1 protein, the Asparagine at position 4 069 (Asn4069) can form hydrogen bonds with the Leucine on the main chain at position 4 086 (Leu4086) and the Serine on the side chain at position 4 087 (Ser4087). The c.12204_12206del variant, resulting in deletion of Asn4069, disrupts these hydrogen bonds and does not generate any compensatory interactions. Based on the ACMG guidelines, the c.1435_1444+3del variant was predicted to be likely pathogenic (PM2_Supporting+PVS1), and the c.12204_12206del(p.Asn4069del) variant was rated as likely pathogenic (PM2_Supporting+PM4+PM3+PP4). The couple had elected for in vitro fertilization using donor sperm. During this cycle, 12 oocytes were retrieved, 10 oocytes were successfully fertilized, 1 embryo and 6 blastocysts were obtained. Following the first transfer of a frozen-thawed blastocyst, implantation of an empty gestational sac occurred, which led to a miscarriage. After the second transfer of a high-quality blastocyst, the embryo split into twins following implantation, and the spouse had selected fetal reduction. The gestational age was 33+3 weeks on June 1, 2026. Literature review identified three studies reporting biallelic mutations of the DNAH1 gene in association with MMAF combined with sperm head abnormalities. Together with the patient from this study, a total of 20 patients were included in the analysis. The rate of sperm flagellar abnormalities in these patients was above 80.0%, while the rate of sperm head abnormalities has ranged from 12.0% to 100.0%. In four patients, the genetic basis was unknown. In the remaining 16 patients, 35 mutations were detected, with c.8626-1G>A being the most common (22.9%, 8/35). CONCLUSION: This patient showed MMAF with frequent sperm head defects. Compound heterozygous variants of the DNAH1 gene probably underlay these abnormalities, which in turn has led to his primary infertility. This study revealed the phenotypic variability of MMAF and broadened the mutational spectrum of the DNAH1 gene.

Humans↗
PubMed1977

Ring chromosome 8 in a boy with multiple congenital abnormalities and mental retardation.

A ring chromosome 8 was found in peripheral blood cells in a boy, whose chromosomes were studied because of multiple congenital anomalies. Examination of skin cells revealed a 46,XY/46,XY,8r pattern. Application of several banding techniques suggested a duplication of the most distal bands of both arms in the ring. The terminal end of 8q appeared to have been retained as could be shown by R-banding. The anaesthesia and surgery the mother underwent in the first month of her pregnancy is considered as a possible cause of the chromosome abnormality.

Abnormalities, Multiple↗
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↗
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↗
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↗
PubMed1976

Small-bowel abnormalities in multiple sclerosis.

Jejunal biopsies were performed in 12 randomly chosen patients with multiple sclerosis. The jejunal mucosa was examined histologically, ultrastructurally, and by tissue immune techniques. Histology showed a normal mucosa in 7 patients, increased inflammatory-cell infiltration in 3, a partial villous atrophy in 1, and a subtotal villous atrophy in the remaining patient. Fine structural abnormalities were seen in 6 of 8 patients studied. These included microvillous changes, increase in theliolymphocytes and epithelial lysosomes, thickening of the connective tissue with or without collagen fibres, and numerous macrophages containing large amounts of membrane-bound electron-dense material. The latter was seen in 5 of the 8 mucosae examined.

Adult↗
PubMed1976

Immunoglobulin abnormalities in multiple sclerosis. Relation to clinical parameters: disability, duration and age of onset.

Cerebrospinal fluid (CSF) and serum from 35 pairs of multiple sclerosis (MS) patients were analysed as regards mononuclear pleocytosis, concentrations of total protein, immunoglobulin G and A and beta-trace protein, and kappa:lambda ratios, as well as the serum/CSF ratios of IgG and albumin. The disability of the patients differed, whereas the age and the duration of the disease were similar in each pair. Similar analyses were also performed on CSF and serum from 72 patients, who were subdivided according to age at onset and severity of the disease. The highest mean values of the CSF-IgG and the lowest mean values of the serum/CSF IgG ratios were found in the more disabled patients. CSF immunoglobulin abnormalities were encountered more often and were more pronounced in the patients with the most malignant course of the disease, i.e., in those with severe disability after a short duration of the disease (less than 10 yr) and in severely disabled patients with an early age at onset of the disease(less than 25 yr). Contrarily, normal mean values of CSF-IgG concentrations and serum/CFS/IgG ratios were found in the groups of patients without disability after a duration of the disease of 10 years or more, and patients without disability and an early age at onset of the disease (less than 25 yr). The observations indicate that the immune response is most vigorous in disabled patients with a short duration or with an early age at onset of the disease. MS patients with a late age at onset (greater than 35 yr) showed a less pronouced immune response within the CNS, irrespective of the occurrence of disability. The most disabled patients also showed the most severe blood-brain barrier damage as manifested by high mean values of total protein in CSF and low serum/CSF albumin ratios. The patients with severe disability and a long duration of the disease (greater than 10 yr) had the highest content of beta-trace protein in the CSF, probably as a sign of destruction of brain matter.

Adult↗
PubMed1978

10p- syndrome associated with multiple chromosomal abnormalities.

A karyotype with six de novo autosomal abnormalities in chromosomes 2,4,9,10,12, and 13 was identified in a 7-year-old boy with mental retardation and other minor malformations. The G- and C-banding techniques revealed an equilibrated translocation between autosomes 2 and 4 and between autosomes 9 and 13. One chromosome 10 has lost genetic material from its short arms, probably because of an interstitial deletion. An unidentified chromosomal fragment has become inserted in the long arms of an autosome 12. The G bands demonstrate that genetic material inserted in the autosome 12 is not the genetic material deleted from the autosome 10. The propositus presents clinical features similar to the reported cases with 10p- syndrome. Nevertheless it is not possible to establish the influence of the genetic material inserted in autosome 12 on the propositus' phenotype.

Child↗
PubMed1979

Renal vein thrombosis: an underdiagnosed complication of multiple renal abnormalities.

Thirty-one cases of renal vein thrombosis (RVT) were reviewed retrospectively for clinical laboratory, and radiographic findings. An underlying renal disorder was present in 28 cases, absent in only 3. This supports other evidence that RVT is usually a complication of renal disease rather than a primary event, and that nephrotic syndrome may be due to renal disease rather than RVT. The findings also confirmed the large spectrum of urographic appearances in RVT, and were used as a basis for developing specific and liberal indications for renal venography.

Humans↗
PubMed1977

Multiple leukocyte abnormalities in chronic granulomatous disease: a familial study.

A variety of leukocyte enzyme activities were studied in an 11-year-old female with chronic granulomatous disease (CGD) and several members of her family. Leukocyte glucose-6-phosphate dehydrogenase (G-6-PD) activity was 17 nmol/min/mg protein in the patient; two brothers with symptoms of recurrent bacterial infections have G-6-PD activities of 58 and 37 nmol/min/mg protein; the activites of this enzyme in both parents, maternal grandmother, and one additional brother were within normal limits. Storage at 4 degrees or heating at 37 degrees over a 120-min period revealed a marked lability of G-6-PD activity in the patient's cells which could not be stabilized by the addition of NADP and 2-mercaptoethanol; this lability was not seen in other family members tested. Activities of leukocyte glutathione reductase were reduced in both parents and the two affected male siblings with values of 18, 23, 23, and 24 nmol/min/mg protein, respectively. Activities of leukocyte glutathione peroxidase were reduced in all of the immediate family members tested, with values ranging from 11.2 to 43 nmol/min/mg protein; the activity of this enzyme in the patient was 38.5. Leukocyte NADP content in the patient, father, and two affected male siblings were 16.5, 23.4, 22.2, and 28.2 nmol/15 min/10(7) leukocytes, respectively.

Adolescent↗
PubMed1977

Anaesthetic considerations on von Recklinghausen's disease (multiple neurofibromatosis). Abnormal response to muscle relaxants.

Two cases of abnormal response to muscle relaxants in patients with von Recklinghausen's disease are reported and the literature is reviewed. A 31 year-old female showed high sensitivity to both suxamethonium and tubocurarine, and 57 year-old male showed also high sensitivity to tubocurarine. Anaesthetic problems which might be encountered in patients with von Recklinghausen's disease are concomitant phaeochromocytoma, renal hypertension, kyphoscoliosis, deformity of the spine, and intralaryngeal neurofibroma.

Adult↗