Subject(s)
Fetal Diseases/diagnostic imaging , Magnetic Resonance Imaging , Prenatal Diagnosis , Female , Humans , Pregnancy , Societies, MedicalABSTRACT
Joubert syndrome and related disorders (JSRD) are characterized by absence or underdevelopment of the cerebellar vermis and a malformed brainstem. This family of disorders is a member of an emerging class of diseases called ciliopathies. We describe the abnormal features of the brain, particularly the fourth ventricle, in seven fetuses affected by JSRD. In three cases abnormality of the fourth ventricle was isolated and in four cases there were associated malformations. The molar tooth sign (MTS) was always present and visible on two-dimensional ultrasound and, when performed, on three-dimensional ultrasound and magnetic resonance imaging. The fourth ventricle was always abnormal, in both axial and sagittal views, presenting pathognomonic deformities. It is important to identify JSRD, preferably prenatally or at least postnatally, due to its high risk of recurrence of about 25%. A detailed prenatal assessment of the fourth ventricle in several views may help to achieve this goal.
Subject(s)
Cerebellar Diseases/diagnosis , Eye Abnormalities/diagnosis , Fourth Ventricle/abnormalities , Kidney Diseases, Cystic/diagnosis , Prenatal Diagnosis/methods , Retina/abnormalities , Abnormalities, Multiple , Cerebellar Diseases/diagnostic imaging , Cerebellum/abnormalities , Eye Abnormalities/diagnostic imaging , Female , Fourth Ventricle/diagnostic imaging , Gestational Age , Humans , Imaging, Three-Dimensional , Kidney Diseases, Cystic/diagnostic imaging , Magnetic Resonance Imaging/methods , Pregnancy , Retina/diagnostic imaging , Ultrasonography, Prenatal/methodsABSTRACT
OBJECTIVES: Neonatal hemochromatosis is a very bad prognosis disease; liver transplantation was the only way to avoid an unfavourable evolution. Nowadays, hypothesis of an alloimmune mechanism for this disease has purposed to administrate high doses of immunoglobulins. PATIENTS AND METHODS: In this study, we report four cases of women whose previous child had neonatal hemochromatosis and who received such a treatment during the next pregnancy from 18 weeks to the term. RESULTS: This treatment allowed to lead their pregnancy to success. At birth, all four neonates were alive. Two of them presented transitory biologic symptoms of liver deficiency. All had a favourable evolution later. DISCUSSION AND CONCLUSION: Maternal treatment with high doses of immunoglobulins during pregnancy seems to improve dramatically the prognosis of neonatal hemochromatosis as it has been already reported. It could also apply to other diseases, which proceed from the same mechanism.
Subject(s)
Fetal Diseases/prevention & control , Hemochromatosis/drug therapy , Immunoglobulins, Intravenous/therapeutic use , Immunologic Factors/therapeutic use , Pregnancy Complications , Adult , Female , Humans , Infant, Newborn , Male , Pregnancy , Pregnancy Outcome , Treatment OutcomeSubject(s)
Basal Ganglia Diseases/diagnostic imaging , Calcinosis/diagnostic imaging , Confusion/diagnostic imaging , Hypoparathyroidism/diagnostic imaging , Aged , Basal Ganglia Diseases/complications , Basal Ganglia Diseases/drug therapy , Calcinosis/drug therapy , Calcinosis/etiology , Calcium/therapeutic use , Confusion/drug therapy , Confusion/etiology , Drug Therapy, Combination , Humans , Hypoparathyroidism/complications , Hypoparathyroidism/drug therapy , Male , Radiography , Syndrome , Treatment Outcome , Vitamin D/therapeutic use , Vitamins/therapeutic useABSTRACT
BACKGROUND: Skeletal abnormalities encompass a heterogeneous group of disorders characterized by anomalies of cartilage as well as bone growth and development. Some are lethal and express early during fetal life, making them amenable to prenatal diagnosis. The increasing use of routine ultrasonography (US) during pregnancy permits a reliable primary evaluation of the fetal skeleton. However, when a skeletal dysplasia is suspected, it is more difficult to establish a specific diagnosis. Moreover, detailed ultrasonographic evaluation of the whole fetal skeleton may be limited in some circumstances, especially during the third trimester due to the fetal position and in the case of multiple pregnancies. METHODS: Retrospective study of twin pregnancies complicated with skeletal abnormalities. RESULTS: 6 twin pregnancies were reviewed. The prenatal diagnosis was correctly made in 66.66% (4/6) with the primary use of combined 2D and 3D-US. 3D-HCT permits to improve the simultaneous assessment of both fetuses, and is of greater value than US in 16.66% (1/6). CONCLUSION: The combined use of 2D or 3D-US with 3D-HCT permits the best imaging evaluation.
Subject(s)
Bone and Bones/abnormalities , Diseases in Twins/diagnosis , Fetal Diseases/diagnosis , Bone Diseases, Developmental/diagnosis , Bone Diseases, Developmental/diagnostic imaging , Diseases in Twins/diagnostic imaging , Female , Fetal Diseases/diagnostic imaging , Humans , Pregnancy , Prenatal Diagnosis , Sensitivity and Specificity , Tomography , Ultrasonography, PrenatalABSTRACT
OBJECTIVE: To evaluate the contribution of new imaging techniques in the prenatal diagnosis of skeletal dysplasia. METHODS: Between May and October 2003, a prospective study was conducted in a single referral center. Three-dimensional ultrasound (3D-US) and three-dimensional helical computer tomography (3D-HCT) were performed after two-dimensional ultrasound (2D-US) in six cases of skeletal dysplasia. Diagnostic accuracy and detailed findings with each of the three techniques were compared with postnatal radiological findings. RESULTS: There were three cases of achondroplasia, two cases of osteogenesis imperfecta type II and one case of chondrodysplasia punctata. Termination of pregnancy was performed in five cases and one fetus with osteogenesis imperfecta type II was delivered at term by Cesarean section. 2D-US made the correct diagnosis in four cases. 3D-US and 3D-HCT achieved an accurate diagnosis in all six cases. 3D-HCT and 3D-US identified significantly more abnormalities than did 2D-US (3D-HCT: 94.3% (33/35); 3D-US: 77.1% (27/35); 2D-US: 51.4% (18/35); P < 0.01). The diagnosis was made between 27 and 36 weeks' gestation in all cases. The advantage of 3D-HCT over 3D-US was the possibility of imaging the entire fetus. CONCLUSION: 3D-US and 3D-HCT seem to be useful complementary methods to 2D-US, and may improve accuracy of the prenatal diagnosis of skeletal disorders. These new imaging technologies may have a role in the prenatal multidisciplinary approach to the diagnosis of skeletal dysplasias.
Subject(s)
Fetal Diseases/diagnosis , Musculoskeletal Abnormalities/diagnosis , Prenatal Diagnosis/methods , Chondrodysplasia Punctata/diagnostic imaging , Female , Fetal Diseases/diagnostic imaging , Humans , Imaging, Three-Dimensional/methods , Musculoskeletal Abnormalities/diagnostic imaging , Osteogenesis Imperfecta/diagnostic imaging , Pregnancy , Prospective Studies , Radiography , Ultrasonography, Prenatal/methodsABSTRACT
Abnormalities of the corpus callosum are often associated with a poor prognosis due to the anatomical defect itself and associated anomalies that include malformations and inherited metabolic disorders. We report a case of the prenatal diagnosis of hypoplasia of the corpus callosum that was associated with non-ketotic hyperglycinemia. Metabolic disorders are a known association with corpus callosum abnormalities and carry a dismal prognosis. A diagnosis of non-ketotic hyperglycinemia should be considered when a fetus presents with an abnormality of the corpus callosum. A literature search reviews other inherited diseases associated with hypoplasia of the corpus callosum.
Subject(s)
Agenesis of Corpus Callosum , Amino Acid Metabolism, Inborn Errors/diagnosis , Fetal Diseases/diagnosis , Hyperglycinemia, Nonketotic/diagnosis , Magnetic Resonance Imaging/methods , Prenatal Diagnosis/methods , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/diagnostic imaging , Amino Acid Metabolism, Inborn Errors/diagnostic imaging , Electroencephalography/methods , Fatal Outcome , Female , Fetal Diseases/diagnostic imaging , Glycine/blood , Humans , Hyperglycinemia, Nonketotic/diagnostic imaging , Infant, Newborn , Male , Pregnancy , Ultrasonography, Prenatal/methodsABSTRACT
Subependymal pseudocysts are cerebral cysts found in 5% of all neonates. When they are isolated and typical, they result from persistence of the germinal matrix, have a good prognosis and regress spontaneously within a few months. However, associated anomalies are frequent and in such cases the prognosis is poor. They can be of infectious, vascular, metabolic or chromosomal origin. Subependymal pseudocysts have rarely been described in the antenatal period. We report the prenatal diagnosis of two cases of isolated pseudocysts at 32 and 23 weeks. Both ultrasonography and magnetic resonance imaging assisted in the diagnosis and there was normal postnatal outcome in both cases.
Subject(s)
Brain Diseases/diagnosis , Cysts/diagnosis , Fetal Diseases/diagnosis , Prenatal Diagnosis/methods , Adult , Ependyma , Female , Humans , Magnetic Resonance Imaging/methods , Pregnancy , Ultrasonography, Prenatal/methodsABSTRACT
We report a case of a 24-week-old fetus with cerebral anomalies suggestive of lobar holoprosencephaly including an unusual course of the anterior cerebral artery on Doppler examination. This abnormal trajectory of the anterior cerebral artery in holoprosencephalic brains has been described by pathologists, neurosurgeons and radiologists but our case indicates that this finding may be a useful adjunct to confirm such a difficult diagnosis prenatally.
Subject(s)
Anterior Cerebral Artery/embryology , Holoprosencephaly/diagnostic imaging , Ultrasonography, Prenatal , Adult , Anterior Cerebral Artery/diagnostic imaging , Female , Humans , Pregnancy , Ultrasonography, DopplerABSTRACT
BACKGROUND: The population of Israel consists of immigrants from many different countries. It is not known whether a single nomogram can be used for spirometric values of children of different ethnic descent. METHODS: Spirometry was performed in 753 second or third generation Israeli children (7-14 years) of different ethnic groups. Both parents of 503 of the children were of the same ethnic background. Subjects were allocated to six ethnic groups (European, Iraqi, North African, Indian, Yemenite, and Georgian). RESULTS: Standing height contributed most to the prediction of spirometric values (forced expiratory volume in one second, forced vital capacity), whereas sitting height did not contribute further. Statistical analysis showed significant ethnic differences. The Georgians had higher spirometric values for FEV1 than all the other ethnic groups, and higher FVC values than those of the Yemenite, North African, and Indian groups. FVC was lower among the Indian than all other groups. CONCLUSION: Differences in normal spirometric values were found among second or third generation Israeli children of different ethnic origins. European, North African, Iraqi, and Yemenite children could be characterised by single equation, whereas children of Georgian and Indian descent needed different predicting equations.
Subject(s)
Ethnicity , Lung/physiology , Adolescent , Child , Female , Forced Expiratory Volume , Humans , Israel , Male , Vital CapacityABSTRACT
BACKGROUND: Sighing breathing is observed in subjects suffering from anxiety with no apparent organic disease. METHODS: Lung volumes and expiratory flow rates were measured in 12 patients with a sighing pattern of breathing and in 10 normal subjects matched for age, gender, and anthropometric data. In both groups the measurements were made by spirographic and plethysmographic techniques. In normal subjects functional residual capacity (FRC) and residual volume (RV) were measured during normal breathing and again during simulated sighing breathing to exclude technical artifacts resulting from hyperventilation during measurement by the helium closed circuit method. RESULTS: Patients with a sighing pattern of breathing had a normal total lung capacity (TLC) but significantly different partitioning of lung compartments compared with normal subjects. The vital capacity (VC) was lower when measured by both spirographic and plethysmographic methods and RV was higher. The forced expiratory volume in one second (FEV1) was also lower in patients with sighing breathing. The FEV1/VC and the maximal expiratory flow rates at 50% and at 25% of the forced vital capacity (V50 and V25) were normal and similar in both groups. In normal subjects there were no differences in RV when measured during quiet or simulated sighing breathing. CONCLUSIONS: Subjects with sighing breathing have a normal TLC with a higher RV and lower VC than normal subjects. There was no obvious physiological or anatomical explanation for this pattern.
Subject(s)
Hyperventilation/physiopathology , Hyperventilation/psychology , Lung/physiopathology , Adult , Anthropometry , Female , Forced Expiratory Volume/physiology , Functional Residual Capacity/physiology , Humans , Male , Middle Aged , Plethysmography , Residual Volume/physiology , Spirometry , Total Lung Capacity/physiology , Vital Capacity/physiologyABSTRACT
Different aspects of mechanical loading were analyzed in a group of 25 patients with chronic obstructive pulmonary disease (COPD) who all had severe expiratory airflow limitation but different arterial CO2 values. It was found that the maximal expiratory flow rates (V75, V50, V25, VFRC), functional residual capacity (FRC), residual volume (RV), total lung capacity (TLC), specific airways conductance (SGaw) measured during inspiration or expiration, and lung recoil pressure (PLel) were not correlated to the PaCO2. Only five parameters were significantly linked to the PaCO2; they were the peak inspiratory flow (PIF) (r = -0.57, p < 0.002), the inspiratory vital capacity (IVC) (r = -0.46, p < 0.01), the maximal voluntary ventilation (MVV) (r = -0.49, p < 0.01), the total SGaw (r = -0.40, p < 0.03), and the forced expiratory flow volume in one second (FEV1) (r = -0.36, p < 0.05). It was concluded that the airflow limitation during the inspiratory phase has an important contribution to the CO2 retention in patients with COPD, and therefore analysis of both phases of the respiratory cycle is necessary to assess the severity of airway obstruction in this disease.
Subject(s)
Airway Resistance , Carbon Dioxide/physiology , Lung Diseases, Obstructive/physiopathology , Aged , Female , Humans , Male , Middle Aged , Pulmonary Ventilation , Respiratory MechanicsABSTRACT
A case of right atrial thrombosis after venous umbilical catheterization in a 21 day-old premature newborn is reported. The initiating factors of such an accident and its clinical signs are evocated. The authors emphasize the value of a systematic ultrasonographic supervision of newborns with central catheters for a long period of time and the value of surgical thrombectomy.
Subject(s)
Catheterization, Central Venous/adverse effects , Heart Diseases/etiology , Thrombosis/etiology , Follow-Up Studies , Heart Atria , Heart Diseases/diagnostic imaging , Heart Diseases/surgery , Humans , Infant, Newborn , Infant, Premature , Male , Thrombosis/diagnostic imaging , Thrombosis/surgery , Treatment Outcome , Ultrasonography , Umbilical VeinsABSTRACT
A 23-year-old woman was referred for decreased vision and central scotoma. Fundus examination disclosed unilateral acute oedematous optic neuritis. A nasolabial cyst was diagnosed, probably of dental origin, because numerous apical granuloma were noticed. The abscess did not produce any fistula which explained the absence of clinical and radiological dental sinusitis. Treatment included excision of the nasolabial cyst and systemic antibiotics. The prognosis was excellent with recovery of a normal visual acuity and normal fundus appearance. There was no evidence of any recurrent episode. The nasolabial cyst was the cause likely of the neuritis. Nevertheless, multiple sclerosis must be considered. Only long-term absence of neurological signs could prove that the maxillary lesion was directly responsible for the optic disorder.
Subject(s)
Cysts/complications , Maxillary Diseases/complications , Optic Neuritis/etiology , Papilledema/etiology , Tooth Diseases/complications , Acute Disease , Adult , Female , Humans , Maxillary Sinusitis/complications , PregnancyABSTRACT
Imaging has become one of the main methods to diagnose and monitor coma. CT is the technique of choice in the exploration of traumatic coma or spontaneous intracerebral haemorrhage, but MRI is better than CT to explore comas of ischaemic, infective, tumoral or toxic origin, as it provides earlier and more precise images.
Subject(s)
Coma/diagnostic imaging , Brain Abscess/complications , Brain Abscess/diagnosis , Brain Abscess/diagnostic imaging , Cerebrovascular Disorders/complications , Cerebrovascular Disorders/diagnosis , Cerebrovascular Disorders/diagnostic imaging , Coma/diagnosis , Coma/etiology , Craniocerebral Trauma/complications , Craniocerebral Trauma/diagnosis , Craniocerebral Trauma/diagnostic imaging , Humans , Magnetic Resonance Imaging , Tomography, X-Ray ComputedABSTRACT
A healthy 26-year-old man, without initially presenting fever, rapidly developed a focal right pontomedullary deficit associated with an aseptic lymphocytic meningitis. The diagnosis of Listeria infection was confirmed by blood cultures. CT and MRI demonstrated an abscess extending from the superior cerebellar peduncle to the lateral portion of the medulla. Immunological controls gave no indication of deficiency. With ampicillin therapy, started on the 5th day, clinical recovery was almost complete, but a soft palate right paresis persisted as the unique sequel. Antibiotic therapy was maintained for 5 months up to normal CSF and CT. One year after the onset, MRI was also normal. The rare nature of listerial abscess in the brainstem is discussed with regard to rhombencephalitides.
Subject(s)
Ampicillin/therapeutic use , Brain Abscess/drug therapy , Brain Stem/microbiology , Meningitis, Listeria/drug therapy , Adult , Brain Abscess/diagnostic imaging , Brain Abscess/microbiology , Brain Abscess/pathology , Humans , Magnetic Resonance Imaging , Male , Meningitis, Listeria/diagnostic imaging , Meningitis, Listeria/pathology , Tomography, X-Ray ComputedABSTRACT
Maximal expiratory flow-volume curves were recorded in 85 healthy subjects, aged from 18 to 78 years. The maximal expiratory flow was measured at 75, 50 and 25% of the vital capacity (VmaxVC), at 60 and 40% of the total lung capacity (VmaxTLC), and at the functional residual capacity level (VmaxFRC). The latter was adjusted for the lung volume at which it was measured. The new parameter was named specific VmaxFRC (SVmaxFRC) and expressed in s-1. Normal values and prediction formulas based on height, weight, age and sex were established. It was found that: (1) adjustment for lung volume narrowed the interindividual variability of SVmaxFRC from 47 to 37%; (2) did not diminish the influence of age (p less than 0.001); (3) erased the influence of height and VC; (4) reduced the correlation with FEV1 (p less than 0.05), and (5) unveiled a borderline correlation with specific conductance (p less than 0.05).
Subject(s)
Forced Expiratory Flow Rates , Lung Volume Measurements , Maximal Expiratory Flow Rate , Adult , Aged , Female , Functional Residual Capacity , Humans , Male , Middle Aged , Vital CapacityABSTRACT
A randomized double-blind crossover trial with nifedipine (10 mg orally four times a day for 2 weeks) was carried out in 11 asthmatic patients. The analysis of the differences between the periods of running-in, placebo and nifedipine administration showed a mild improvement in symptom scores during the nifedipine period (2.8 +/- 1.5, 2.8 +/- 1.8 and 2.1 +/- 1.6, respectively; P less than 0.05). Drug intake and peak expiratory flow rates remained unchanged. This suggests that the drug did not influence the baseline bronchial tone, but might have attenuated some superimposed exacerbations due to unavoidable exposure to cold, effort or allergens. We conclude that the benefit of orally administered nifedipine in low doses has little value in the treatment of asthma.
Subject(s)
Asthma/drug therapy , Nifedipine/therapeutic use , Adult , Clinical Trials as Topic , Double-Blind Method , Humans , Male , Random AllocationABSTRACT
In order to study the dose-related effect of nifedipine on expiratory flow rates, 15 asthmatic patients were given sublingually 10 mg and 20 mg of the drug on two different days and the FVC and FEV1 were measured during 90 minutes. Then they received 2.5 mg albuterol (Salbutamol) by inhalation, and the two parameters were measured again after 30 minutes. It was found that the drug has a dose-related effect on expiratory flow rates. Indeed, 20 mg nifedipine produced a mild (less than 10 percent) but significant improvement in FVC (p less than 0.01) and FEV1 (p less than 0.05), while the response to 10 mg was mild, not significant and manifested rather by a decrease in both parameters. In three patients, the forced expiratory flow rates markedly worsened. No correlation could be established between the effect of nifedipine and the severity of the disease. In contrast, the improvement produced by albuterol was strongly related to the degree of airway obstruction (p less than 0.001). Nifedipine in both doses did not potentiate the bronchodilatation induced by albuterol.
Subject(s)
Asthma/drug therapy , Bronchi/drug effects , Nifedipine/administration & dosage , Adolescent , Adult , Albuterol/pharmacology , Asthma/physiopathology , Clinical Trials as Topic , Dose-Response Relationship, Drug , Drug Synergism , Forced Expiratory Flow Rates , Forced Expiratory Volume , Humans , Nifedipine/pharmacology , Random Allocation , Vital CapacityABSTRACT
At age 50 two homozygote twin brothers developed bilateral paralysis of the diaphragm. No infectious, metabolic, degenerative or proliferative disorders of the neuromuscular system and no thoracic diseases which could explain this lesion were detected during four years of follow-up. It appears thus to be an isolated lesion of genetic origin. To the best of our knowledge, no similar cases have been reported in literature.