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PubMed2005

Goldenhar's syndrome associated with multiple congenital abnormalities.

Goldenhar's syndrome is characterized by a combination of dermal epibulbar cysts, auricular appendices, malformation of ears, and vertebral anomalies. The average incidence ratio of Goldenhar's syndrome is estimated to be 1/5600, and the frequency of cardiovascular malformations of this syndrome is 5-58 per cent. Although the etiology of this disease is not fully understood, autosomal recessive or dominant inheritance is possible. The disease occurs as sporadic cases. Male:female ratio for the Goldenhar's syndrome is 2:1. A 72-day-old Goldenhar's syndrome case is reported who presented with multiple congenital anomalies.

Abnormalities, Multiple↗

PubMedDate not supplied

[Cystic eye and anophthalmos in a child with multiple congenital abnormalities].

Cystic eye is a rare congenital disease representing a persistent primary ocular cyst cavity. A patient aged 2 is described with anophthalmia and cystic eye looking as an orbital tumor 25 x 35 mm in size. The infant suffered from delayed psychomotor and speech development. Ambilyacousia, thymomegaly, multiple hemangiomas of the skin, syndactyly, cryptorchidism, inguino-scrotal hernias were diagnosed. The totality of developmental abnormalities was a contraindication against anesthesia, therefore the proposed cystic eye enucleation with prosthesis implantation was not carried out.

Abnormalities, Multiple↗

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↗

PubMed1999

Acute lymphoblastic leukemia with multiple cytogenetic abnormalities secondary to treatment of Ewing's sarcoma.

We report the case of a 22-year-old man with Ewing's sarcoma who attained a complete remission (CR) after combination radiotherapy and chemotherapy. Secondary acute lymphoblastic leukemia with multiple cytogenetic abnormalities involving chromosome 5 and 7 developed 16 years later. The patient underwent induction chemotherapy and entered a CR. Peripheral blood stem cell transplantation from a matched sibling was performed successfully and he is in complete remission of both ALL and Ewing's sarcoma.

Adult↗

PubMed2006

Liver test abnormalities in multiple sclerosis: findings from placebo-treated patients.

The risk of an abnormal liver test in 813 patients with multiple sclerosis or clinically isolated syndrome enrolled in placebo arms of clinical trials was greater than expected for alanine aminotransferase (ALT) (relative risk [RR] 3.7; 95% CI: 2.3 to 6.0) and aspartate aminotransferase (AST) (RR 2.2; 95% CI: 1.3 to 3.6), although not alkaline phosphatase (AP) or total bilirubin, at first presentation. Abnormal test results were associated with higher body mass index (ALT only), male gender (ALT only), and a relapsing-remitting (vs secondary-progressive) course (ALT and AST only).

Adolescent↗

PubMed2003

Strategies for treating cancers caused by multiple genome abnormalities: from concepts to cures?

The epidemiology, genetics/genomics and molecular biology of cancer all point to the involvement of a large number of genes in the malignant progression of the vast majority of human cancers. Our current conceptual models of cancer are discussed here and are integrated with an assessment of the strategies required for treating and potentially curing human cancers driven by multiple genome abnormalities. There are settings in which excellent responses will be seen in cancers driven primarily by single genomic abnormalities, e.g., imatinib in chronic myeloid leukemia and gastrointestinal stromal tumors. Other multigenic cancers will require drug cocktails or single drugs acting on multiple downstream targets.

Animals↗

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↗

PubMed1998

MR identification of white matter abnormalities in multiple sclerosis: a comparison between 1.5 T and 4 T.

BACKGROUND AND PURPOSE: Although MR spectroscopy and functional MR imaging of the brain have been successful at 4 T, conventional fast spin-echo imaging of the brain at 4 T has not been adequately evaluated. The purpose of this study was to compare the detection of white matter abnormalities in multiple sclerosis (MS) at 1.5 T and 4 T. METHODS: Fifteen patients with clinically definite MS were imaged at both 1.5 T and 4 T within a 1-week period. Comparison was made between fast spin-echo long-TR images at both field strengths. Pulse sequences were tailored to maximize resolution and signal-to-noise ratio in clinically relevant imaging times (< 7 min). Four interpreters independently reviewed the images obtained at both field strengths in separate sessions and evaluated them for lesion identification, size, characterization, and subjective resolution. Differences in interpretations at 1.5 T and 4 T were subsequently recorded. RESULTS: Images obtained at 4 T showed a mean of 88 more lesions as compared with images obtained at 1.5 T. All the lesions measured less than 5 mm and were typically aligned along perivascular spaces. Twenty-five consensually identified lesions on 4-T images were not seen at all on 1.5-T images. Moreover, 4-T images showed 56 additional consensually identified lesions, which were indistinct and seen only in retrospect on 1.5-T images. These lesions were frequently (n = 48) identified in large confluent areas of white matter signal intensity abnormality at 1.5 T. All observers also agreed that 4-T images subjectively enhanced the perception of normal perivascular spaces and small perivascular lesions. CONCLUSION: MR imaging at 4 T can depict white matter abnormalities in MS patients not detectable at 1.5 T through higher resolution with comparable signal-to-noise ratio and imaging times.

Adult↗

PubMed2006

Prognostic and biological implications of genetic abnormalities in multiple myeloma undergoing autologous stem cell transplantation: t(4;14) is the most relevant adverse prognostic factor, whereas RB deletion as a unique abnormality is not associated with adverse prognosis.

Fluorescence in situ hybridization (FISH) has become a powerful technique for prognostic assessment in multiple myeloma (MM). However, the existence of associations between cytogenetic abnormalities compels us to re-assess the value of each abnormality. A total of 260 patients with MM at the time of diagnosis, enrolled in the GEM-2000 Spanish transplant protocol, have been analyzed by FISH in order to ascertain the independent influence on myeloma prognosis of IGH translocations, as well as RB and P53 deletions. Survival analyses showed that patients with t(4;14), RB or P53 deletions had a significantly shorter survival than patients without these abnormalities. However, patients with RB deletions without other abnormalities in FISH analysis, displayed a similar outcome to those patients without genetic changes by FISH (46 vs 54 months, P=0.3). In the multivariate analysis the presence of t(4;14), RB deletion associated with other abnormalities, age >60 years, high proportion of S-phase cells and advanced stage of the disease according to the International Staging System retained their independent prognostic influence. In summary, RB deletion as a sole abnormality does not lead to a shortening in the survival of MM patients, whereas t(4;14) confers the worst prognosis in MM patients treated with high-dose chemotherapy.

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↗

PubMed2004

Structural brain abnormalities in multiple sclerosis patients with major depression.

OBJECTIVE: To assess the association between major depression and structural brain abnormalities in patients with multiple sclerosis (MS). METHODS: Two groups of patients with clinically definite MS were studied: 21 with Diagnostic and Statistical Manual of Mental Disorders (4th ed.)-defined major depression and 19 without. The groups did not differ on demographic, disease, or cognitive measures. All subjects underwent brain MRI. Tissue segmentation and regional brain masking were applied to the MRI data. RESULTS: Compared with the euthymic subjects, those with major depression had a greater T2-weighted lesion volume (p = 0.003) and more extensive T1-weighted lesion volume in the left medial inferior prefrontal cortex (p = 0.01) and less gray matter volume (p = 0.01) and more CSF volume in the left anterior temporal region (p = 0.005). A logistic regression analysis identified two independent predictors of depression: left medial inferior prefrontal cortex T2 lesion volume and left anterior temporal CSF volume. These variables accounted for 42% of the depression variance score. CONCLUSION: Whereas both lesion burden and atrophy are important in the pathogenesis of depression in MS, psychosocial influences should also be considered.

Adult↗

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↗

PubMed1998

Constitutional del(19)(q12q13.1) in a three-year-old girl with severe phenotypic abnormalities affecting multiple organ systems.

We present the clinical, cytogenetic, and molecular studies on a constitutional deletion of 19q ascertained prenatally due to decreased fetal activity and IUGR. Chromosome analysis by GTG banding on amniocytes suggested a del(19)(q13.1q13.3), but the analysis of microsatellites by PCR demonstrated that the deletion involved the distal segment of q12 and the proximal segment of q13.1 (15 cM). The severely affected female infant born at 38 weeks has clinical findings that may be related to haploinsufficiency of specific genes within 19q12.1-->q13.1 that control important processes of normal development and cell function.

Abnormalities, Multiple↗

PubMed1980

Motor unit potential abnormalities in multiple sclerosis: further evidence for a peripheral nervous system defect.

We have recently reported abnormalities of single fibre EMG in patients with multiple sclerosis. The present study applies quantitative electrophysiological techniques to the same group of patients. The number of motor units in the extensor digitorum brevis muscle was measured and their characteristics recorded. Also the shortest distal motor latency and fastest motor conduction velocities were estimated. Abnormalities suggesting a patchy denervating/reinnervating process due to pathology in the intramuscular nerve network or at the endplate were found in a number of patients. There was a good correlation between patients with abnormal motor unit potentials and those with abnormal single fibre EMG "jitter".

Electromyography↗

PubMed1995

Dental abnormalities in long-term survivors of head and neck rhabdomyosarcoma.

To define the long-term dental sequelae of therapy for childhood rhabdomyosarcoma of the head and neck, and to identify factors in their development, we retrospectively reviewed the serial panoramic radiographs and clinical records of 22 survivors of head or neck rhabdomyosarcoma who had been followed for at least 5 years. Patients were divided into four groups based upon age at the time of therapy and three groups based upon radiation doses. All patients had received similar multiagent chemotherapy. Dental sequelae of oncotherapy occurred in over half of the long-term survivors of head and neck rhabdomyosarcoma. The abnormalities comprised root stunting in 54%, microdontia in 23%, and hypodontia in 50% of patients; 36% had multiple abnormalities. Microdontia and multiple abnormalities were more prevalent in patients treated at the earliest age, and abnormalities tended to be more prevalent with increasing doses of radiation. Five patients (23%) developed severe cosmetic and/or functional sequelae necessitating surgical and/or orthodontic intervention. The high frequency of dental sequelae we observed suggests that meticulous long-term dental and radiographic follow-up are needed. Early detection and treatment of the complications of therapy will expedite their correction and minimize morbidity.

Adolescent↗

PubMed1997

Familial hyperparathyroidism without multiple endocrine neoplasia.

Hyperparathyroidism occurs sporadically, in association with multiple endocrine neoplasia (MEN) types I and II, or rarely as familial hyperparathyroidism (FHPT) without other manifestations. We analyzed our experience in 16 FHPT patients from 14 families treated between 1934 and 1991 and reviewed 51 other FHPT patients reported in the literature to determine the clinical course of these patients. Among our 16 patients, 7 (44%) had a serum calcium level >/= 3.75 mmol/L, 5 (31%) presented with hypercalcemic crisis, 3 (19%) had osteitis fibrosa cystica, 5 (31%) had nephrolithiasis, 1 had pancreatitis, 12 (75%) had multiple abnormal parathyroid glands, 3 (19%) had supernumerary glands, and 7 (44%) required reoperation for persistent (n = 4) or recurrent (n = 3) hyperparathyroidism. Three patients (19%) also had papillary thyroid cancer, and 7 (44%) had other coexistent thyroid disorders. Among 51 patients with FHPT reported in the literature, 23 (45%) had serum calcium >/= 3.75 mmol/L, and 23 (45%) had multiple abnormal parathyroid glands; 10 (20%) had recurrent hyperparathyroidism. FHPT without other endocrinopathies is a distinct entity. Patients with FHPT have multiple abnormal parathyroid glands and are prone to both recurrent and persistent hyperparathyroidism. They frequently present with profound hypercalcemia or hypercalcemic crisis, in contrast to patients with MEN-associated hyperparathyroidism or sporadic hyperparathyroidism.

Adolescent↗