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Mental retardation, short stature, almond-shaped eyes, small downturned mouth and coned epiphyses: a new case of Hunter-Fraser syndrome.

A 21-year-old male with mental retardation, short stature, almond-shaped eyes, small downturned mouth, and coned epiphyses is presented. The clinical presentation, as well as the metacarpal phalangeal pattern profile, was similar to the affected members of a family reported by Hunter et al.: (Hunter et al.: J Med Genet 14:430-437, 1977). In addition, many features of our patient resembled Ruvalcaba syndrome. However, skeletal abnormalities were different. A reciprocal translocation was also observed in 3 members of our patient's family.

Abnormalities, Multiple↗

Bilateral coronoid process hyperplasia with limitation on mouth opening: case report.

Coronoid process hyperplasia with limitation of mouth opening is rare. The pathology is often ignored, but it can be easily detected using dental panoramic view of x-ray films. Definition of the coronoid process hyperplasia can be made by measuring the height of coronoid process and the ratio of coronoid/condyle height on lateral cephalometric x-ray film. Etiology of the coronoid process hyperplasia can be congenital or acquired. Differentiation of the diagnosis may be difficult. The congenital type occurs at early age with clinical manifestations. Proposed hypotheses for the formation of coronoid process hyperplasia include increased activity within the temporalis muscle from conditions such as functional stress, compression, and tension. For patients with coronoid process hyperplasia and restriction on mouth opening, conservative treatment should first be attempted. Surgical treatment is considered if conservative treatment fails. Coronoidectomy with early mobilization and aggressive physiotherapy corrects the problem. We present a patient with coronoid process hyperplasia with limitation of mouth opening who was successfully treated.

Abnormalities, Multiple↗

Optimal mouth position for magnetic resonance imaging of the temporomandibular joint disk.

Optimal mouth positioning for magnetic resonance imaging of the TMJ is controversial. This study evaluates the closed mouth position and partial-open mouth position for diagnostic accuracy of anterior displacement of the disk. Sixty-two joints were considered abnormal in at least one position. In the positive joints, the closed mouth position sequences were all abnormal and diagnostic, while 34% of partial-open mouth position sequences were falsely normal. It was found that the closed mouth position provides higher diagnostic accuracy for disk displacement, although optimal examinations include imaging in both positions.

Adolescent↗

Diaphragmatic dysfunction in patients with idiopathic inflammatory myopathies.

Polymyositis, dermatopolymyositis, and inclusion body myositis imply chronic inflammation of skeletal muscles. Pulmonary complications include aspiration pneumonia, interstitial pneumonitis, or respiratory muscle myositis. This study aims at better describing their impact on respiratory muscle. Twenty-three consecutive patients (12 PM, 5 DM, 6 IBM) were studied (static inspiratory and expiratory pressures; diaphragm function in terms of the mouth and transdiaphragmatic pressure responses to bilateral phrenic stimulation). Pulmonary parenchymatous abnormalities were mild (6 cases) or absent. The mouth pressure produced by phrenic stimulation was 6.83+/-3.01 cm H2O, with 18 patients (78%) diagnosed with diaphragm weakness (<10 cm H2O) and lower values in DM (4.35+/-1.48 cm H2O) than in IBM and in PM (P<0.05). Diaphragm weakness is frequent and probably overlooked in inflammatory myopathies. Further studies are needed to delineate the clinical relevance of these results.

Aged↗

Difficult tracheal intubation--analysis and management in 37 cases.

AIM: To analyse the anatomical features of difficult airways encountered during general anaesthesia and study how difficult intubation was circumvented during anaesthesia in our local population. METHOD: Difficult intubation was defined as failure to visualise the larynx during laryngoscopy after neck flexion and external cricoid pressure was applied. All cases of difficult intubation collected over 1 1/2 years during general anaesthesia were recorded prospectively and analysed. RESULTS: Thirty-seven cases of difficult intubation were identified among 5,379 cases of general anaesthesia requiring endotracheal intubation. 40.5% of the cases were not expected to be difficult pre-operatively. 5.4% of the cases were Lehane II, 91.9% Lehane III and 2.7% Lehane IV. The anatomical features encountered included receding chin, limited mouth opening, limited neck extension, abnormal dentition, short thyromental distance, large tongue, supraglottic mass and floppy epiglottis. Gum elastic bougie was commonly used to overcome the intubation difficulties. Laryngeal mask, blind nasal tracheal intubation, fiberoptic bronchoscopic intubation and sometimes an alternative anaesthetic technique, such as regional anaesthesia, were resorted to. CONCLUSION: Assessment of multiple anatomical features would improve prediction of difficult intubation. Assessment of receding chin, neck extension, mouth opening, teeth, tongue size, thyromental distance might pick up 81% of difficult airways. Unexpected problems with epiglottis and glottic inlet are the potential sources of danger that are difficult to predict pre-operatively.

Adolescent↗

Salivary flow and its relation with oral symptoms in terminally ill patients.

BACKGROUND: Patients with terminal malignant disease commonly report hyposalivation or xerostomia. This leads to "dry mouth," fungal infection, and mucosal abnormalities. To the authors' knowledge oral symptomatology and findings have not been correlated previously with accurate salivary flow measurements. METHODS: Measurement of stimulated parotid salivary flow rate and clinical recording of oral symptoms within 24 hours from the time of hospital admission were obtained in 48 terminally ill cancer patients. Subjective reporting of symptoms by patients, parotid salivary flow rate, clinical recording of dental status, presence of candidiasis, angular cheilitis, and dryness of the floor of the mouth were obtained. RESULTS: A clinical diagnosis of oral candidiasis was made tentatively in 94% of patients, and 50% of the patients were found to have angular cheilitis. Thirty-one of 45 evaluable patients (68%) reported a sensation of oral dryness. Sixteen of the 48 patients (33%) had no saliva at the floor of the mouth. Analysis of individual salivary flow rates was stratified into 3 levels of secretion: 0, < 0.2, and > or= 0.2 mL/minute. Symptoms were found to correlate with salivary flow rates. CONCLUSIONS: In the current study, symptoms were found to be most severe in the patients with xerostomia followed by those patients with hyposalivation. Treatment should be directed individually to each group of patients using either salivary substitutes or stimulants. The rate of incidence of oral pathologic findings may be higher than formerly recognized.

Aged↗

The DiGeorge syndrome and the fetal alcohol syndrome.

Four patients with clinical and laboratory features of the DiGeorge syndrome had a definite history of maternal alcoholism. Certain clinical abnormalities in the patients were characteristic of the DiGeorge syndrome as well as the fetal alcohol syndrome, including abnormalities of the eyes, ears, mouth, face, cardiovascular system, CNS, and immune system. Maternal alcoholism may result in the DiGeorge syndrome either as the single causative factor or in conjunction with other as yet unknown teratogens.

Alcoholism↗

Characteristics of motor disturbances of the Rett syndrome.

The stereotyped movement of hands, one of the core symptoms of the Rett syndrome (RS), was analyzed to study the pathophysiology. The development of hand function was delayed after mid-infancy and handedness was undetermined in most cases. Before the onset of the pathognomonic stereotypy, patients showed excessive or abnormal behaviors of hands and mouth, such as patting or licking hands, etc. The useful hand function was lost just before or after the onset of stereotypy. The characteristic "hand wringing" movement at midline became apparent from 8 months to 3 years of age. The synchronous hand movement without reaching the midline and leg movement at midline were also seen in some patients. Based on the analysis of these symptoms, it is suggested that the stereotyped movements of RS are manifestation of fragments of normal motor behaviors at immature levels appearing excessively and repetitively with the abnormal basic posture. The pathophysiological mechanism of these characteristics is thought to be due to the hypofunctional state of the monoaminergic system from early ontogeny, which is in accordance with our previous hypothesis that RS is a developmental disorder of the monoaminergic system. The roles of the cortical involvement and sensory system are also discussed.

Adolescent↗

Immunogenicity of foot-and-mouth disease virus grown in BHK-21 suspension cells. Correlation with cell ploidy alterations and abnormal expression of the alpha 5 beta 1 integrin.

BHK-21 suspension cells were characterized with regard to genetic and phenotypic features which might adversely affect the immunogenic properties of foot-and-mouth disease virus (FMDV) grown therein. A positive correlation was found between number of passages in suspension culture and both prevalence of polyploid cells and reduced cell growth on surfaces. Suspension cells also revealed differences in the expression of RGD-specific integrins and, in particular, of alpha 5 beta 1, which was shown to work as an FMDV receptor structure. These features, along with the notable instability of a few non-structural FMDV A5 proteins in infected cells, outline a new scenario, in which the reduced immunogenicity of FMDV might be accounted for by defined negative influences of the cell environment on viral replication.

Amino Acid Sequence↗

Squamous cell carcinoma of the oral cavity.

This paper describes the treatment of squamous cell carcinomas of the oral cavity in patients referred to the multidisciplinary clinics at the Princess Margaret Hospital. The majority of squamous cell carcinomas at this site involve the tongue and floor of mouth. One third have clinically abnormal cervical nodes at the time of presentation, and a further third are believed to have subclinical node involvement. Small superficial carcinomas are usually treated by simple excision. Approximately one quarter of the patients have tumors so extensive that only palliative treatment is possible. Most patients are treated by initial irradiation and surgery is reserved for those with residual or recurrent carcinoma. The basis for this policy and the results achieved in the treatment of oral cavity tumors are discussed. The overall adjusted five year survival for all patients is approximately 50%.

Carcinoma, Squamous Cell↗

Physiological studies in young women with chronic constipation.

Manometric, radiological and neurophysiological investigations were performed on 34 women, aged between 14 and 53, who suffered with chronic constipation refractory to treatment, and on 27 age-matched normal female control subjects. The constipated patients had more difficulty in evacuating simulated stools than control subjects and 13 out of 19 patients tested obstructed defaecation by contracting the external sphincter during straining. The constipated group required a greater degree of rectal distension than control subjects to induce rectal contractions, anal relaxation and a desire to defaecate. Other modalities of rectal sensation were normal in the constipated subjects. Compared with controls, constipated patients had significantly lower anal pressures, an abnormal degree of perineal descent on straining and an obtuse anorectal angulation at rest. These results were compatible with weakness of the pelvic floor and neuropathic damage to the external sphincter. Mouth to anus transit time was abnormally prolonged in 60% of constipated patients, but was within the normal range in the remainder. Anorectal function in patients with slow transit was not significantly different from that in patients with a normal transit time. The mouth to caecum transit time of a standard meal was prolonged in constipated patients irrespective of the duration of the whole gut transit. Gastric emptying was not significantly prolonged.

Adolescent↗