Characteristics of adolescents with chronic poorly controlled type 1 diabetes - A qualitative study.

AIMS: During adolescence, a minority of adolescents with type 1 diabetes have persistent and serious poor metabolic control. The main cause of poorly controlled diabetes during adolescence seems to be poor adherence to therapy. The reasons are intertwined between social, family, psychological, and other factors. The aim of our qualitative study was to describe the characteristics of adolescents with chronic poorly controlled diabetes and those of their families. METHODS: We conducted 10 semi-structured interviews with adolescents aged 12-18 years and whose annual average hemoglobin A1c was greater than or equal to 9.5%. Six semi-structured interviews were conducted with parents (either with both or one parent). Interviews were then analyzed according to the comprehensive microanalysis method. RESULTS: We selected three recurrent themes: family life and diabetes, diabetes care and issues, and negative representations of the disease. Family situations were often complex, with limited involvement by fathers and many conflicts regarding medical care. Adolescents were disinvested from day-to-day care although they were aware of the possible long-term complications. Adolescents and their families had a very negative outlook of and experience with diabetes. CONCLUSION: The study highlighted family issues and difficult disease-related experiences among adolescents with persistent and poorly controlled diabetes. As a part of a comprehensive medical approach, it seems necessary to take into consideration the daily care of patients with diabetes within their unique family dynamic.

Quantitative CT analysis using functional imaging is superior in describing disease progression in idiopathic pulmonary fibrosis compared to forced vital capacity.

BACKGROUND: Idiopathic pulmonary fibrosis (IPF) is chronic fibrosing pneumonia with an unpredictable natural disease history. Functional respiratory imaging (FRI) has potential to better characterize this disease. The aim of this study was to identify FRI parameters, which predict FVC decline in patients with IPF. METHODS: An IPF-cohort (treated with pamrevlumab for 48 weeks) was retrospectively studied using FRI. Serial CT's were compared from 66 subjects. Post-hoc analysis was performed using FRI, FVC and mixed effects models. RESULTS: Lung volumes, determined by FRI, correlated with FVC (lower lung volumes with lower FVC) (R2 = 0.61, p < 0.001). A negative correlation was observed between specific image based airway radius (siRADaw) at total lung capacity (TLC) and FVC (R2 = 0.18, p < 0.001). Changes in FVC correlated significantly with changes in lung volumes (R2 = 0.18, p < 0.001) and siRADaw (R2 = 0.15, p = 0.002) at week 24 and 48, with siRADaw being more sensitive to change than FVC. Loss in lobe volumes (R2 = 0.33, p < 0.001), increasing fibrotic tissue (R2 = 0.33, p < 0.001) and airway radius (R2 = 0.28, p < 0.001) at TLC correlated with changes in FVC but these changes already occur in the lower lobes when FVC is still considered normal. CONCLUSION: This study indicates that FRI is a superior tool than FVC in capturing of early and clinically relevant, disease progression in a regional manner.

[The challenge for dermatologists of early APECED diagnosis]. / Diagnostic précoce du syndrome APECED : un défi pour le dermatologue.

BACKGROUND: Polyglandular auto-immune syndrome type 1 (PAS-1) or auto-immune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder linked to auto-immune regulator (AIRE) gene mutations. Herein, we report the case of a 3-year-old boy with APECED emphasizing the wide phenotypic variability and the extent of skin lesions. PATIENTS AND METHODS: A 3-year-old boy with a history of auto-immune hepatitis was referred for a generalized pruriginous urticaria-like eruption present for one month. He was born to non-consanguineous parents. Cutaneous examination revealed twenty-nail dystrophy, which had been present since the age of 2 years. Both direct microscopy and culture of nail samples were negative for Candida albicans. Esophagogastroduodenoscopy revealed esophageal candidiasis. A diagnosis of APECED was suspected and subsequently confirmed by molecular analysis of the AIRE gene, which showed two mutations. No other auto-immune endocrinopathies were found. DISCUSSION: Our case report illustrates the phenotypic variability of APECED with the absence of typical manifestations such as Addison's disease and hypoparathyroidism. APECED should thus be systematically suspected in young children presenting with cutaneous lesions associated with mucocutaneous candidiasis or auto-immune disease, even in the absence of known endocrinopathies. CONCLUSION: Dermatologists should be aware of this association since early diagnosis of APECED is critical in preventing life-threatening endocrinological crises.

High-performance thin-layer chromatographic determination of 5-methoxypsoralen in serum from patients.

A simple and rapid high-performance thin-layer chromatographic (HPTLC) determination of 5-methoxypsoralen in serum is necessary for the therapeutic survey of patients treated with Puvatherapy (psoralen+UVA). The assay for this biological fluid involves an extraction with heptane-dichloromethane (4:1, v/v). The analytical method is linear from 50 to 250 ng/ml. This assay range is adequate for analysing human serum, as it corresponds to psoralen concentrations measured in serum from patients treated with psoralen and UVA against psoriasis and vitiligo. The limit of detection is 15 ng/ml. The coefficient of variation was less than 7%.

[Cerebral cavernoma: a rare vascular malformation]. / Les cavernomes cérébraux: une malformation vasculaire rare.

The authors have observed 7 cases of intracranial cavernous haemangioma. A review of the literature shows that the diagnosis is suggested by the occurrence of epileptic seizures, signs of expansive process or meningeal haemorrhage. Computerized tomography displays an area of hyperdensity enhanced by injections of a contrast medium. Surgical excision is mandatory. The post-operative mortality varies with the site of the malformation.

[Occlusive arteriopathy of the circle of Willis with outlined "Moya-Moya" network in a woman with migraine under oral contraception. Regressive course]. / Artériopathie occlusive du polygone de Willis avec ébauche de réseau "Moya-Moya" survenue chez une jeune femme migraineuse sous médication contraceptive. Evolution régressive.

A 19-year-old woman with migraine under contraceptive therapy had transient right hemiparesis due to a minor lesion in the left hemisphere, which was probably hemorrhagic rather than ischemic. On the left side, angiography showed nearly complete obstruction of the terminal portion of the internal carotid artery, extending to the initial portion of its terminal branches, with an outlined "Moya-Moya" network. On the right side, moderate annular stenosis of the cervical portion of the internal carotid was visible. On subsequent angiographies, done 7 and 19 months later, blood flow was reestablished in the left internal carotid artery as well as in its terminal branches, but with persistent segmental stenosis. Since the stroke, the symptomatology of migrainous attacks has been altered, pointing to a left hemispheric spreading.

PIP: A 19-year old woman with a migraine who had been taking oral contraceptives (OCs) had transient right hemiparesis due to a minor lesion in the left hemisphere, probably hemorrhagic rather than ischemic. On the left side, angiography showed nearly complete obstruction of the terminal portion of the internal carotid artery, extending to the initial portion of its terminal branches with an outlined "Moya-Moya" network. On the right side, moderate annular stenosis of the cervical portion of the internal carotid was visible. On subsequent angiographies, done 7 and 19 months later, blood flow was reestablished in the left internal carotid artery as well as in its terminal branches, but with persistent segmental stenosis. Since the stroke, the symptomatology of migrainous attacks has been altered, pointing to a left hemispheric spreading. (author's modified)

[Parkinson disease and depression (author's transl)]. / Maladie de Parkinson et dépression.

Depression and Parkinson disease, two very different conditions at first sight, have much more intricate connections than is usually believed. Depression may be the patient's reaction to Parkinson disease, a condition that is anticipated with anxiety, with good reason as it is often very disabling and has not been significantly prolonged by dopamine therapy. Depression may precede the first signs of Parkinson disease. Pseudoparkinsonian melancholia may be difficult to distinguish from the akinetic form of Parkinson disease. Most of the symptoms of the latter have been encountered in the former. The following features do not occur in depression: astasia with trepidation, festination, monotonous tachyphemia and palilalia, sebaceous hypersecretion, and of course unilateral or frankly asymmetric signs. Parkinson syndrome secondary to depression can be classified with those parkinsonian syndromes that are different from parkinson disease and secondary to a clearcut etiology. In some instances, diagnosis is established by the response to therapy. In the present state of our knowledge, the treatment of depression relies on chemotherapy and sismotherapy and not on dopamine therapy. The management of Parkinson disease rests on dopamine which may be associated with tricylic antidepressants.

[Wallenberg's syndrome due to a dissecting aneurysm of the vertebral artery]. / Syndrome de Wallenberg par hémodissection (anévrysme dissequant) de l'artère vertébrale.

A 54 year old man without pathologic past history but mild hypertension, obesity and gastric ulcer, presented with a syndrome of Wallenberg. He had complained for five days of progressive and diffuse headache. The neurological condition improved initially, but the patient died suddenly two weeks later. Pathological examination showed no significant alteration except for left ventricular enlargement and mild arteriosclerosis. There was a hemodissection (dissecting aneurysm) of the left vertebral artery next to the inferior oliva. It induced a lateral infarct and a limited dorsal infarct at the middle third level of medulla oblongata. Although the location of the arterial changes is usual, their nature is exceptional. The cause of the arterial hemodissection could not be ascertained: fibrous arterial dysplasia, atherosclerosis or congenital abnormalities of internal elastic layer may be discussed. But no definite conclusion can be reached.

[Polyneuropathy complicating Horton's disease (author's transl)]. / Polyneuropathie compliquant l'évolution d'une maladie de Horton.

A patient diagnosed as having Horton's disease presented a complex neurological picture dominated by sensory-motor neuropathies of all four limbs, one year after the appearance of signs of temporal arteritis. No other etiological factor, apart from the Horton's disease, was discovered, and the causal relationship between this disease and the neuropathy is discussed. The possibility of dysimmunity factors being involved in Horton's disease is raised and the resulting therapeutic implications discussed.

[Unilateral dysplasia of the circle of Willis with multiple distal stenoses (author's transl)]. / Dysplasie unilatérale du polygone de Willis, associée à des sténoses distales multiples.

Neurological and clinical examinations were found to be normal in a woman aged 40 years who had had a single generalized epileptic seizure. Rediological examinations demonstrated a spiral-shaped calcification above and laterally to the left sella turcica. This corresponded to changes in the C 1 segment of the left carotid sinus, which was partly stenosed distally, with left unilateral abnormalities of the circle of Willis and multiple distal stenoses of the left sylvian and vertebro-basilar arteries. Scanning demonstrated that these had been present for a long time, but it is not possible to establish the diagnosis on an etiological basis as no similar radiological findings have been published.

[Long term administration of oral prednisone or prednisolone in treatment of myasthenia gravis. Report of five cases (author's transl)]. / Traitement de la myasthénie par la prednisone ou prednisolone administrrée par voie orale au long cours. A propos de cinq observations.

Five patients, four of them with severe or severe generalized myasthenia gravis, were treated by long term orally administrated prednisolone, with following results: one complete remission and two almost complete remissions (in three aged fernale patients), two substantial improvements (one in a male patient, one in a young adult female patient, both thymectomized). The least favourable result was observed in the male patient. Positive results of such treatment were similarly reported by several authors (with an average of 70% complete or almost complete remission, 20% substantial improvement, 7% moderate improvement). These results appear qualitatively superior to those obtained with ACTH, and may be long-lasting. Treatment with prednisolone may be applied to any form of myasthenia gravis, particularly those which do not react to anticholinesterasic agents in moderate dosages. At onset of treatment, patients should be under care of a reanimation unit. Dosage is initially high (60--100 mg daily, secondarily on alternate days), and should be reduced very slowly, once a definite improvement is achieved. The duration of this treatment depends upon the results obtained: it should not last under one year. Associated treatment with anticholinesterasic agents remains disputable, whereas associated thymectomy seems to provide best results.

[Cisterno-medullary anomalies. Diagnostic problems, surgical treatment (author's transl)]. / Les anomalies de la région bulbo-cisternale. Leurs problèmes diagnostiques, leur traitement chirurgical.

Under the term cisterno-medullary anomalies are included several disorders: bony and nervous malformations, arachnoiditis of the posterior fossa. As they are frequently associated, a thorough investigation, both anatomical and dynamic, is a prerequisite to any therapeutic attempt. Along with causing damage to the neuraxis, these anomalies interfere with the dynamics of the CSF and may lead to the development of a communicating syringomyelia, whatever the theory proposed. The presenting symptoms are varied, and diagnosis should be accordingly suspected. Of fundamental importance are instrumental investigations. A complete evaluation is in most of the cases obtainable with: bone X-rays, air-myelography (or "bulle"), intrathecal ou ventricular radio-isotope scan. Surgery is the only treatment. The aim is both decompression of the neural structures and restoration of a normal CSF dynamic flow. Opening of the posterior fossa is successful in the case of developmental abnormalities, But it seems to prove a failure when the chief anomaly is arachnoiditis. In such cases, ventricular drainage alone may be followed by improvement. It appears from this that the problem is twofold: the technical problem of the drainage, and the pre-operatory diagnosis of a posterior fossa arachnoiditis.

[Plexus lesions following radiation therapy. Report of nineteen cases (author's transl)]. / Les atteintes plexiques post-radiothérapiques. A propos de dix-neuf cas.

Nineteen patients with plexus lesions following radiation therapy were investigated: fifteen with brachial plexus, 4 with lumbar or sacral plexus involvement. Symptoms at onset are usually sensory. Motor disturbances occur either simultaneously or after some delay, their course is generally gradual and unfavourable. Areflexia appears early and was present in every case. Important cutaneous lesions (radiodermitis) and considerable induration of soft tissues were observed in every patient. Diagnosis is a relapse of the mitotic process. Severity of prognosis makes imperative a definite technique of radiation therapy. In all the patients included in this study, dosage had exceded 1,600 rets. Patients were tentatively treated with D-penicillamine, an inhibitor of collagen synthesis.

[Reversible humoral alterations paralleling the course of a recurring meningioma with metastases (author's transl)]. / Perturbations biologiques réversibles, évoluant parallèlement à un méningiome récidivant et avec métastases.

Case report of a recurring meningioma of the posterior fossa, with pulmonary metastases. Humoral alterations (sedimentation rate, fibrinemia, alkalin phosphatases, sideremia, prothrombin, blood proteins and BSP) paralleled the course of the tumor and may be considered as a para-tumoral syndrome. Pathogenesis is unknown.