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PubMed1993

Mental retardation, macrostomia and hyperpnoea syndrome.

A syndrome with the triad of abnormalities of mental retardation, wide mouth and intermittent overbreathing is described, which has all the features of the syndrome previously described by Pitt and Hopkins. Pitt and Hopkins published two cases that bear close resemblance to each other, each having an abnormal respiratory rhythm. Both had an unusually wide mouth and palate, thick fleshy lips, broad-beaked nose, finger clubbing and abnormal electroencephalograms. This paper discusses a client living in a hostel for intellectually handicapped people who has all these features.

Abnormalities, Multiple↗
PubMed1988

Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patient.

In the November 1987 issue of this journal, Young and Simpson presented a female infant with abnormal facies (microcephaly, blepharophimosis, small, low set, posteriorly rotated ears, bulbous nose, carp shaped mouth, and micrognathia), congenital heart abnormalities (large atrial and ventricular septal defects), congenital hypothyroidism, and severe global retardation. We have observed a male newborn with a similar pattern of malformations (figs. 1 and 2).

Facial Bones↗
PubMed2001

Tardive dyskinesia: An update.

Tardive dyskinesia (TD) is a serious motor side effect of chronic neuroleptic therapy. TD is a complex hyperkinetic syndrome consisting of choreiform, athetoid or rhythmic abnormal involuntary movements. The face, mouth and tongue are most frequently involved (orofacial type), but a variety of less frequent motor abnormalities of the upper and lower limbs and of the trunk may also occur. TD usually has a delayed onset and the intensity of the syndrome may fluctuate over time. The most serious aspect of TD is that it may persist for months or years after drug withdrawal and in some patients is irreversible. In spite of the prevalence and known etiology that chronic neuroleptic treatment causes TD, relatively little is known about the primary pathological mechanism underlying the condition. Abnormalities in various neurotransmitter systems have been implicated in the pathophysiology of TD, including the dopaminergic, GABAergic, serotonergic and noradrenergic systems. Recently, excitotoxicity of the glutamatergic system and oxidative stress have received much attention. Three general types of animal models have contributed to our knowledge of TD and can be described as homologous, analogous and correlational models. There are no empirically validated guidelines to follow when choosing a suppressive agent. In general, therapeutic trials have attempted to manipulate the dopaminergic, GABAergic, serotonergic and noradrenergic systems, in part due to theories on the pathophysiology of TD. None of these medications has proven successful in the majority of patients. Much more research is needed in order to increase our understanding of TD and to develop better therapeutics for its treatment. (c) 2001 Prous Science. All rights reserved.

Journal Article↗
PubMed1984

Facial characteristics of children who breathe through the mouth.

There are many claims that abnormal breathing patterns alter facial growth; however, there are limited controlled data to confirm these claims. Thirty children with allergy, aged 6 to 12 years, who had moderate-to-severe nasal mucosal edema on physical examination and who appeared to breathe predominantly through the mouth and 15 children without allergy who had normal findings from nasal examination and who appeared to breathe predominantly through the nose were evaluated. All subjects received an intraoral clinical examination and cephalometric radiograph analysis. In comparison with children who breathed through the nose, children who breathed through the mouth had longer faces with narrower maxillae and retruded jaws. This supports the hypothesis that children with nasal obstruction and who appear to breathe through the mouth have distinctive facial characteristics.

Cephalometry↗
PubMed1997

Quantitation of urinary nucleosides by high-performance liquid chromatography.

It is known that some modified, especially methylated, nucleosides originating from RNA degradation are excreted in abnormal levels in the urine of patients with malignant tumours and they have been proposed as tumour markers. Their measurement could provide a non-invasive diagnostic method, be helpful in the identification of different cancers and in the monitoring of therapeutic effects. In this study, we developed and optimized an analytical procedure to isolate and quantify normal and modified ribonucleosides. The extraction of urinary nucleosides was performed by affinity chromatography on a phenylboronic acid column prior to separation. The reversed-phase high-performance liquid chromatography method allowed a complete separation of sixteen urinary ribonucleosides. The recoveries for the different nucleosides ranged from 83 to 100%, except for xanthosine (66%) and pseudouridine (74%). In normal 24 h urine, the mean levels of thirteen nucleosides (in nmol of nucleoside/mumol of creatinine) were found to be as follows: dihydrouridine (6.37), pseudouridine (25.52), cytidine (0.07), uridine (0.21), 1-methyladenosine (2.19), inosine (0.30), guanosine (0.06), xanthosine (0.59), 3-methyluridine (0.11), 1-methylinosine (1.13). 1-methylguanosine (0.74), adenosine (0.21) and 5'-deoxy-5'-methylthioadenosine (0.12). The first results concerning two kinds of tumours, i.e. breast and floor of mouth tumours, showed some abnormal levels of ribonucleosides. Further experiments are now in progress to measure the modified nucleosides in urine of patients with different forms of cancer.

Adenosine↗
PubMedDate not supplied

[Joubert's syndrome: report of 12 cases].

INTRODUCTION: Joubert syndrome is a rare autosomal recessive disorder whose main clinical signs are hypotonia, ataxia, mental retardation, abnormal eye movements and a respiratory pattern of alternating tachypnea-apnea during first months of life. The most characteristic imaging features are elongation and thinning of the pontomesencephalic junction with deepening of the interpeduncular fosse, thickening of the superior cerebellar peduncles, hypoplasia of the vermis and incomplete fusion of the halves of the vermis, creating a sagittal vermic cleft. The first three findings are components of the molar tooth sign . OBJECTIVES: Our aim was to review the clinical features and the neuroradiological findings in 12 children with clinical diagnosis of Joubert syndrome, along with the attempt to correlate clinical and radiological findings. PATIENTS AND METHODS: We performed a retrospective study, and cerebral magnetic resonance imaging was achieved in all cases. RESULTS: All the children have mental retardation, hypotonia, ataxia and oculomotor abnormalities. Other clinical findings are respiratory rhythm abnormalities, abnormal retinal pigmentation, mouth-tongye-facial dyskinesias, ptosis, polydactyly, scoliosis, congenital heart defects, polycystic kidneys and seizures. All patients have agenesis of the vermis and the molar tooth sign is present in nine patients. Five children have other associated cerebral malformations. CONCLUSIONS: In the absence of a biochemical or genetic marker for the Joubert syndrome, we need to have a group of patients with homogeneous clinical and neuroradiological characteristics, in order to avoid an overlap with other syndromes. According to our experience and the review of the literature, we believe that the following should be considered as major diagnostic criteria for Joubert syndrome: hypotonia, ataxia, mental retardation, oculomotor apraxia and the molar tooth sign . Supporting clinical features are: abnormal respiratory pattern, retinal pigmentation, renal abnormalities and facial dysmorphism.

Abnormalities, Multiple↗
PubMed1991

Human fetal mouthing movements: a potential biophysical variable for distinguishing state 1F from abnormal fetal behavior; report of 4 cases.

In late pregnancy, when fetal behavioural states are well developed, human fetuses spend about one third of their time in a quiescent state, 1F. In healthy fetuses biophysical tests often appear suboptimal if recording happens to occur in this state, and as a result prolonged recording may be necessary. We have examined fetal mouthing movements during state 1F in 65 fetuses beyond 36 weeks, with and without risk factors, but in whom there was no immediate evidence of compromise. We found that periodic rhythmical mouthing movements were a characteristic feature of state 1F, occurring in 93.0% of episodes, when the fetal mouth was visible. This compares favourably with variables of the biophysical profile, which were less likely to be satisfactory in state 1F - fetal breathing 53.8%, fetal movements 46.2%, fetal heart rate 69.2%, and overall biophysical score of 8 or 10, 60.0%. We identified objective evidence of fetal compromise (of various aetiologies) in four other fetuses of the same gestational age, and mouthing movements were absent in all four.

Adult↗
PubMed2003

[Cyclines and acne: pay attention to adverse drug reactions! A recent literature review].

PURPOSE: Cyclines are broad-spectrum antibiotics often used in acne. Side effects might occur precociously or more insidiously during long term treatment such in acne. The aim of this study is to review all adverse effects recently reported in this indication. CURRENT KNOWLEDGE AND KEY POINTS: A literature review from 1997 to 2001 has been conducted. Seventy-six articles reporting 250 cases have been found. Data analysis indicated that minocycline is the most widely incriminated molecule. Seventy-two cases revealed autoimmune disorders : lupus like syndrome associated or not with autoimmune hepatitis, 5 cases developed vasculitis. These reactions occurred in long term treatment (several weeks to several months). Fifteen cases of hypersensitivity syndromes and 3 cases of serum sickness like illness have been reported. These reactions occurred within the first weeks of exposure. Twenty-four cases of pseudotumor cerebri and 123 cases of abnormal pigmentations (skin, nails, mouth, bones or organs) have also been found. Eight cases presented other diseases. FUTURE PROSPECTS AND PROJECTS: Adverse effects of cyclines might be serious and sometimes unknown. Long term treatment by tetracyclines must be researched in patients presenting such symptoms. Moreover, several adverse drug reactions might be avoided by an optimal use of the drug (oesophageal ulcerations, photosensitivity) or by shorter periods of treatment (autoimmune disorders, pigmentations); only DRESS are drug adverse reactions unpredictable and sometimes severe.

Acne Vulgaris↗
PubMed2006

Evaluation of inspiratory pressure in children with enlarged tonsils and adenoids.

UNLABELLED: Children with enlarged tonsils and adenoids usually present breathing abnormalities such as snoring, mouth breathing and sleep apnea. It is known that upper airway obstruction and consequent mouth breathing may result in pulmonary diseases. AIM: The goal of this preliminary study was to evaluate the inspiratory pressure in children with upper airway obstruction due to enlarged tonsils. STUDY DESIGN: Clinical with transversal cohort. MATERIAL AND METHOD: We evaluated 37 children (4-3 years old, female/male) with enlarged tonsils who would be submitted to a T&A surgery in the Department of Otolaryngology, Medical School, University of Sao Paulo, from October 2002 to March 2003. The control group comprised 28 children without tonsillar disease submitted to the same tests. Inspiratory pressure was obtained using a manometer and vacuum meter. RESULTS: We could observe lower inspiratory pressures in children with upper airway obstruction. The mean of inspiratory pressure in the upper airway obstruction group was 14.607 cm/H2O and in the control group was of 27.580 cm/H2O. CONCLUSIONS: Enlarged tonsils and adenoids were associated with poor inspiratory pressure, resulting in increased breathing effort and work of the involved muscles.

Adenoids↗
PubMed1968

Oral surgery.

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Bruxism↗