Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders.

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.

Comparison between an alpha-adrenergic antagonist and a beta 2-adrenergic agonist in bronchial asthma.

Fifteen patients suffering from asthma received inhalations of phentolamine, albuterol (salbutamol), a combination of phentolamine and albuterol, and placebo, in a single-blind fashion; the changes in the pulmonary function tests were recorded over a three-hour period. Three patients responded to phentolamine with marked bronchodilatation, whereas severe bronchoconstriction was induced by the drug in two patients. Five patients improved more with phentolamine than with placebo, while all patients improved more markedly with albuterol and still more following inhalation of the combination of both drugs. As a group, there were no statistically significant differences between the responses to phentolamine compared with placebo, or between albuterol alone compared with the combination of both drugs. We concluded that both alpha-antagonist and beta 2-agonist agents act in the same direction in most patients, the beta 2-agonist being the dominant. These results do not offer convincing proof that enhanced alpha-adrenergic activity is the main bronchoconstrictor mechanism even in those few with good response to phentolamine, who also showed very good responsiveness to albuterol. The mechanism of phentolamine-induced bronchoconstriction was discussed, but in the light of presently accepted theories, we were unable to evolve a reasonable explanation.

Atenolol in hypertension: a cardioselective drug.

The efficary of atenolol given one daily was assessed in 41 otherwise healthy hypertensive patients over a period of six months. Twelve patients whose blood pressure was not well-controlled on methyldopa and chlorthalidone and 11 patients who were treated previously with other beta-blockers all benefited from atenolol which appeared to be effective and well-tollerated. Ten patients complained of fatigue not necessarily related to a drop in blood pressure, and two of headache. Respiratory functions were assessed in a double blind trial on 30 patients. No significant changes in any of the expiratory flow rates were recorded after three months of continuous treatment with atenolol in either smokers or nonsmokers.

Pulmonary function following the adult respiratory distress syndrome.

Fifteen patients (range of ages, 18 to 35 years) who survived an acute episole of the adult respiratory distress syndrome caused by mechanical or thermal injuries, sepsis, and shock were studied during 1 to 30 months after recovery. The patients had had no previous pulmonary diseases, and only two had been smokers. All of the patients were asymptomatic, and their chest x-ray films were normal on follow-up examination. Tests of pulmonary function revealed mild abnormalities which consisted of reduction of pulmonary volumes, decreased carbon monoxide diffusing capacity, and a mild increase of alveolar-arterial oxygen pressure gradients in the early stage ofter recovery. Improvement was noted after a few months, but eight patients still had mild reduction of pulmonary volume after one to two years. No correlation could be established between the severity of the adult respiratory distress syndrome, therapy with mechanically assisted ventilation, the duration of exposure to supplemental oxygen, the fractional concentration of oxygen in the inspired gas, and the degree of residual functional defect.

Pulmonary functional abnormalities after upper dorsal sympathectomy. A comparison between the supraclavicular and transaxillary approaches.

Results of pulmonary function studies were compared in two groups of 12 patients each, in whom upper dorsal sympethectomy was performed by the supraclavicular or by the transaxillary approach. Patients were evaluated clinically, radiologically and functionally before operation and again three weeks, three months and six months after denervation. Findings suggest that an increase in small airway resistance concomitant with some degree of pneumoconstriction occurred after upper dorsal sympathectomy by both routes. Musclar transection and possible phrenic nerve retraction damage due to the operative procedure could not be the cause of the above abnormalities because the inspiratory and expiratory forces, inspiratory peak flow and diaphragmatic movement were not significantly reduced after operation by both approaches. However, in a few cases, extrapleural hematomas, segmental atelectasis and relaxation of the daiphrgm could have contributed to the loss of the lung volume. This was evident only in the early period and was obvious in the transaxillary approach group.

Nifedipine in asthma. Dose-related effect on resting bronchial tone.

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.

Poisoning caused by inhalation of hydrogen chloride, phosphorus oxychloride, phosphorus pentachloride, oxalyl chloride, and oxalic acid.

Eleven people accidentally inhaled a significant amount of a gaseous mixture of hydrogen chloride, phosphorus oxychloride, phosphorus pentachloride, oxalyl chloride, and oxalic acid. Clinical observations and laboratory tests were recorded from the time of admission throughout hospitalization. The main abnormalities were found in the respiratory tract and consisted of clinical and physiologic evidence of obstruction of the airways, mild interstitial and alveolar edema, a defect in diffusion, and inequalities of ventilation and perfusion that produced hypoxemia. All of these cleared within a short time.

Familial bilateral paralysis of diaphragm. Adult onset.

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.

Basic metabolic rate in emotional stress: its potential influence on cochlear function.

Using a model previously described, prolonged emotional stress was induced in guinea pigs. Under this condition, arterial blood gases, blood glucose level, PO2 and PCO2 in the expired air, and the heat irradiated by the animals were measured and compared to those of the anesthetized guinea pigs. From the present study, two important findings should be mentioned. First, the metabolic rate of the animals under stress was 30% higher than in the anesthetized group. Second, the arterial PO2 level of the animals under stress was significantly lower than that in the anesthetized ones. Evaluating the noxious effect of severe and/or prolonged emotional stress, one should not neglect the increased oxygen demand resulting from the high metabolic rate of the subject. This factor, together with the decreased arterial blood PO2 level, reinforce the hypoxic effects on the cochlear function, caused by the vasoconstriction of the labyrinthine vessels.

[Solitary listerial abscess of the brain stem. Cure with antibiotic treatment]. / Abcès listerien solitaire du tronc cérébral. Guérison sous traitement antibiotique.

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.

[Maxillary cyst of dental origin with uncommon ocular complication]. / A propos d'un kyste maxillaire d'origine dentaire avec complication oculaire inhabituelle.

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.

[Role of imaging in the diagnosis of coma]. / Place de l'imagerie dans le diagnostic des comas.

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.

[Prenatal treatment of neonatal hemochromatosis with maternal administration of intravenous immunoglobulins (about four cases)]. / Traitement anténatal préventif de l'hémochromatose néonatale par administration maternelle d'immunoglobulines intraveineuses (à propos de quatre observations).

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.

Twins discordant for fetal skeletal abnormalities: a natural confrontation between the two siblings.

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.