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PubMedDate not supplied

[Pentasomy X: a clinical case report].

Cytogenetic investigations gave evidence of pentasomy X in a 3-year-old female with typical facies and psychomotor retardation. The parents and the grandparents showed a normal karyotype. The clinical symptoms of our case were compared with the other authors, we found a low birth weight, short stature, delayed expressive language, multiple abnormalities of craniofacial skeleton and some minor deformities of the arts. The parental origin of the extra set of X chromosome were determined by the restriction fragment length analysis (RFLPs) using the very polymorphic probes M27beta, L1.28 and St14. These data support the hypothesis of a maternal meiotic double non-disjunction.

Abnormalities, Multiple↗
PubMed1992

Necropsy findings in a fetus with a 46,XY,dic t(X;21)(p11.1;p11.1).

We report the findings in a fetus terminated because of multiple abnormalities diagnosed on ultrasound, including asymmetry of the limbs, a hypoplastic diaphragm, unilateral duplex kidney with a double ureter, unilateral cystic kidney, and congenital heart disease including total pulmonary atresia. Cytogenetic studies showed an unbalanced translocation of the long arm of the X chromosome to chromosome 21, resulting in a 46,XY,dic t(X;21)(p11.1;p11.1) karyotype. The cytogenetics were confirmed by non-isotopic in situ hybridisation using probes specific to pericentric alphoid repeats. Parental chromosomes were normal indicating this to be a de novo translocation. It is suggested that the inactivation of the long arm of the X chromosome has resulted in an effective monosomy for chromosome 21.

Abnormalities, Multiple↗
PubMed1986

Congenital diverticulum of the ventricle.

Ten cases of ventricular diverticula were seen at the Texas Heart Institute between 1965 and 1984. Operations were performed on nine of the 10 patients with no operative mortality. The tenth patient, a 3-month-old infant with multiple abnormalities, was not returned after the initial evaluation. Most diverticular in our series were unsuspected and diagnosed during cardiac catheterization. Symptoms were related mainly to associated malformations, including intracardiac, midline thoracic, diaphragmatic, and abdominal wall defects. The surgical techniques employed in each case varied according to the size and site of the diverticulum and the associated cardiac defects. We recommend surgery for all diagnosed ventricular diverticula, especially when associated with other intracardiac defects.

Abdominal Muscles↗
PubMed1987

Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid.

A male patient, 4 years 9 mo old and having progeroidal appearance, exhibited delayed mental development and multiple abnormalities of connective tissues including growth failure, osteopenia of all and dysplasia of some bones, defective deciduous teeth, loose but elastic skin, delayed wound healing with formation of thin atrophic scars, scanty scalp hair, hypotonic muscles, and hypermobile joints. Skin fibroblasts of the patient converted only about half of the core protein of the small proteodermatan sulfate to a mature glycosaminoglycan chain-bearing proteoglycan. The remaining core protein, which contained complex-type asparagine-bound oligosaccharides, was secreted with almost normal kinetics. Xylosyltransferase activity and the synthesis of other proteoglycan types were normal. Normal induction of glycosaminoglycan synthesis occurred in the presence of 1 mM, but there was very little induction in the presence of 0.01 mM p-nitrophenyl-beta-xyloside. An antibody against an N-terminal pentadecapeptide of the core protein recognized the glycosaminoglycan-free core protein from the patient less well than the chain-bearing protein treated with chondroitin ABC lyase. Though these results do not define the basic defect unambiguously, they provide the first report of a disorder being due to an abnormality in small proteoglycan biosynthesis.

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↗
PubMed1990

Urethral duplication with single bladder and multiple genitourinary abnormalities: an example of continent urinary diversion.

A 13-year-old girl with multiple genitourinary malformations, incomplete bladder exstrophy, urethral duplication with single bladder, septate vagina, and total urinary incontinence is presented. Prior to admission she had undergone surgery for teratoma and calculi of the bladder and partial fecal incontinence. A continent urinary diversion was done by bladder augmentation using a cecal-colonic segment and by surgical closure of the bladder neck. The distal end of the appendix was brought to the skin as an inconspicuous, easily catheterizable, watertight stoma, our modification of the Mitrofanoff procedure. Excision of the vaginal septum, creation of an introitus, and unification of the split clitoris improved the cosmetic appearance of the external genitalia and improved the outlook for a normal sexual life and pregnancy.

Abnormalities, Multiple↗
PubMed1985

B-cell abnormalities in multiple sclerosis. A hypothesis.

Quantitative and qualitative (oligoclonal band) immunoglobulin abnormalities are one of the hallmarks of multiple sclerosis. The usual explanations offered for these abnormalities include persistent antigenic stimulation, "nonsense" antibody, immunodysregulation, and nonspecific polyclonal stimulation. We propose that an intrinsic B-cell abnormality leads to the immunoglobulin disturbances--perhaps in association with one of the aforementioned mechanisms. Genetic translocations and abnormalities in the normal B cell developmental immunoglobulin rearrangements could produce a selective advantage for certain B cells or enhance transcription causing clonal proliferation with the subsequent production of oligoclonal immunoglobulin bands. Cytogenetic and molecular hybridization studies of the B cell may help answer these issues.

B-Lymphocytes↗
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↗
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↗
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↗