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At least 1,063 records · Page 59Linked to original sources
PubMed2004

Craniofacial morphology in an unusual case with nasal aplasia studied by roentgencephalometry and three-dimensional CT scanning.

OBJECTIVE: To examine the three-dimensional morphology of internal structures of the craniofacial region and present the orthodontic problems in an unusual case with nasal aplasia. PATIENT: The patient was an 11.5-year-old boy with aplasia of the nose and nasal cavity with extremely constricted nasopharyngeal airway. He did not have mental or somatic retardation. The patient had dacryostenosis. The morphology of the craniofacial structures was characterized by absence of septal structures, including cribriform plate, perpendicular plate of ethmoid bone, vomer, and septal cartilage; bony hypotelorism; midface hypoplasia; short and retrognathic maxilla with Class III jaw relationship; average mandibular plane angle; high arched palate; severe anterior open bite with bilateral posterior crossbites; and dental anomalies (agenesis of four maxillary permanent teeth, microdontia, taurodontism, and short roots). Thus, the patient had characteristic dentofacial phenotype, which might be caused by a combination of the primary anomaly and the functional disturbances secondary to the nasal obstruction.

Cephalometry↗
PubMed1979

Trisomy 6q25 to 6qter in a severely retarded 7-year-old boy with turricephaly, bow-shaped mouth, hypogenitalism and club feet.

Trisomy for a small terminal segment of chromosome 6q produces a characteristic syndrome of malformations and dysmorphic signs which, on the basis of comparison with a previously published case, may be suspected on clinical grounds. The present case concerns a 7-year-old boy, the son of a carrier mother t(6;14)(q25;qter). The main symptoms are: very severe physical and mental retardation, turricephaly, Cupid's bow mouth with narrow lips, almond-shaped eyes with narrow palpebral fissures and ptosis, micropenis with absence of scrotum, club feet, hammer toes, and extension contractures. In addition, there are a great many minor dysmorphic features.

Abnormalities, Multiple↗
PubMed1994

Recurrent trismus: twenty-year follow-up result.

The authors encountered an unusual case of recurrent trismus in a patient who had oral synechia, cleft lip and palate, digital anomalies, and external genital anomaly. Mandibular movement was severely restricted by congenital soft-tissue adhesion in the retromolar region. Despite aggressive surgical efforts and postoperative manipulations, limitation of mouth opening recurred soon after each operation. Furthermore, congenital and postoperative soft-tissue adhesion resulted in severe subsequent jaw deformities, which needed combined maxillary and mandibular advancement.

Abnormalities, Multiple↗
PubMed2001

New syndrome characterized by sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay.

A brother and a sister show very similar clinical features, including sparse hair in the first year of life, prominent nose, small mouth, micrognathia, high arched palate or cleft palate, crumpled upper helices, flexion limitation of the distal interphalangeal joint of the fingers, and mild developmental delay. Their clinical appearance suggests a premature aging phenotype, but is not really compatible with the hitherto known syndromes of that group. The mode of inheritance is likely autosomal recessive.

Abnormalities, Multiple↗
PubMed1981

Partial monosomy 7q syndrome due to distal interstitial deletion.

A female infant was ascertained at 10 weeks because of failure to thrive and a peculiar cry and was found to have few morphologic variants. Her karyotype was 46,XX,del(7)(q3105::q3405). The parental karyotypes were normal. At one year she manifested physical retardation and development delay and required surgery for gastroesophageal incompetence. The phenotypic characteristics of this patient and those of six previously reported cases of 7q medial or distal interstitial deletion include many anomalies. Morphologic abnormalities of the head, ears, eyes, mouth, chest, hands, feet, and nerves combined with characteristics of birth weight, growth, and development define a detectable syndrome. An unusual cry may help in the recognition of this new syndrome.

Child, Preschool↗
PubMed1996

Colon involvement in systemic sclerosis: clinical-radiological correlations.

About one third of all patients with systemic sclerosis (SS) presents colon abnormalities, although these may be underestimated because they frequently remain asymptomatic for a long time. Thirty-five patients (33 women and 2 men; mean age 56.5 years; mean disease duration 11.9 years) affected by SS (25 with limited and 10 with diffuse pattern of skin involvement) were investigated using barium enema to detect radiological changes in the colon, and to correlate them with other visceral involvement, autoantibody profile, abdominal symptoms and duration of the disease. Ten patients (28.6%) showed X-rays abnormalities (excluding isolated diverticula), wide-mouthed sacculations being the most frequent finding. Our data confirm that the colon is frequently involved in SS, even in the limited form of the disease. The most relevant finding was the dissociation between clinical symptoms and radiological features which proved to be more evident among the patients with limited SS. No correlations were found between the radiological picture and any other parameter, thus suggesting that careful evaluation of the colon should be performed in any patient suffering from the disease.

Adult↗
PubMed2004

Orofacial development in children with Down's syndrome 12 years after early intervention with a stimulating plate.

BACKGROUND: Orofacial regulation therapy for children with Down's syndrome was introduced to Europe in Munich in 1978. Since then, many clinical studies have provided scientific evidence that this therapeutic approach enhances the orofacial function and facial appearance of children with trisomy 21. Only few long-term results have been published to date. PATIENTS AND RESULTS: In the present study, 20 children with trisomy 21 were examined more than 12 years after starting treatment in infancy with a Castillo Morales stimulating plate. The follow-up examination showed that the improved orofacial appearance resulting from the early treatment had remained stable in most cases. Although the mechanical stimulus of the stimulating plate was absent during the follow-up period, some patients revealed a lip and tongue posture superior to that recorded at baseline. CONCLUSION: According to the results of the present study, the orofacial status in early childhood is decisive for the subsequent development of the orofacial region and the long-term stability of the achieved improvements: Children with a pronounced orofacial dysfunction showed a greater stimulation-plate-induced improvement than those with initially moderate orofacial findings. This observation was confirmed by the findings of the 12-year follow-up: Children with Down's syndrome and initially slight orofacial impairment displayed only slight improvements or unchanged findings.

Adolescent↗
PubMed2002

Prenatal sonographic features of Harlequin ichthyosis.

Harlequin ichthyosis (HI) is a severe and usually fatal congenital keratinization disorder with autosomal recessive inheritance. For over a decade, prenatal diagnosis of HI relied on fetoscopic or sonographically guided skin biopsies, and, therefore, was limited to previously affected families. Only a few cases of prenatal sonographic diagnosis have been published and the sonographic findings are variable. We report a case of HI, in which the typical features were detected during fetal life but the condition remained undiagnosed at 35 weeks' gestational age in this pregnancy complicated by premature rupture of membranes, oligohydramnios and intrauterine growth retardation. The documented prenatal findings were a flat profile with absent nose; a large mouth, widely gaping open; dysplastic ears; abnormal fixed position of the hands; and edema of thighs and feet; and intrauterine growth retardation. Following elective cesarean section the infant died of septicemia 12 days post-partum despite etretinate and antibiotic treatment. The sonographic features of HI are discussed together with those previously reported and an attempt is made to delineate sonographic markers of this rare disorder.

Adult↗
PubMed1984

Neonatal ethanol withdrawal: characteristics in clinically normal, nondysmorphic neonates.

Although neonatal withdrawal syndrome is often noted in infants of narcotics addicts, ethanol withdrawal has been reported only among neonates with fetal alcohol syndrome. To examine the possibility that ethanol withdrawal occurs more widely and to identify its characteristics, the behavior of eight neonates born to women who drank a mean of 21 ounces of absolute alcohol per week during gestation was compared with that of two contrast groups: 15 infants whose mothers drank an equivalent amount but stopped in the second trimester, and 29 infants whose mothers never drank. None of the 52 infants had fetal alcohol syndrome, and all were in good health. Neurobehavioral evaluation 3 days postnatally compared the groups for the occurrence of characteristic signs of withdrawal from central nervous system depressants. Whereas there was no difference in the frequency of withdrawal symptoms among infants of mothers who never drank (mean 1.4) or of mothers who stopped drinking (mean 1.8), infants of mothers who continued to drink (mean 4.7) had significantly more tremors, hypertonia, restlessness, excessive mouthing movements, unconsolable crying, and reflex abnormalities. By interfering with state control and interactive behaviors, withdrawal could affect mother-infant bonding as well as the conditions that foster cognitive and social development.

Alcohol Drinking↗
PubMed2000

Adverse events and treatment discontinuations in clinical trials of fluoxetine in major depressive disorder: an updated meta-analysis.

BACKGROUND: A 1993 meta-analysis of US Investigational New Drug clinical trials of fluoxetine reinforced this agent's more favorable adverse-event profile compared with tricyclic antidepressants (TCAs). OBJECTIVES: The present meta-analysis sought to provide a reanalysis of updated adverse-event and discontinuation data for fluoxetine 20 to 80 mg/d compared with TCAs and placebo in the treatment of major depressive disorder (MDD) in adults. A subanalysis to assess the safety profile of the most commonly used effective dose of fluoxetine in MDD (20 mg) was also conducted. METHODS: Data were obtained from 25 double-blind clinical trials involving 4016 patients with MDD randomized to treatment with fluoxetine 20 to 80 mg/d, TCAs, or placebo. The subanalysis included data from 6 trials involving 1258 patients treated with fixed 20-mg doses of fluoxetine or placebo. Spontaneously reported treatment-emergent adverse events, reasons for discontinuation, and events leading to discontinuation were compared between groups. RESULTS: The age of the 4016 randomized patients ranged from 12 to 90 years, with a mean age of 46 years. Most patients were white (92%), and 62% were female. The age of the 1258 patients in the 20-mg fixed-dose population ranged from 18 to 90 years, with a mean age of 54 years; as in the total population, most of these patients were white (92%), and 57% were female. The adverse-event profiles of fluoxetine and TCAs in these trials were consistent with the typical profiles of selective serotonin reuptake inhibitors and TCAs. At a dose of 20 mg/d, fluoxetine-treated patients had a discontinuation rate due to adverse events that was not statistically significantly different from that in placebo recipients. Discontinuation rates due to lack of efficacy were not significantly different between fluoxetine and TCAs. However, significantly more TCA-treated patients discontinued therapy because of adverse events and significantly fewer completed treatment compared with fluoxetine-treated patients (both, P < 0.001). The most common events (> or = 2%) leading to discontinuation were asthenia, dizziness, insomnia, nausea, nervousness, somnolence, and tremor in fluoxetine-treated patients and abnormal vision, agitation, constipation, dizziness, dry mouth, headache, nausea, nervousness, rash, somnolence, sweating, and tremor in TCA-treated patients. CONCLUSIONS: Data from this large series of clinical trials confirm that fluoxetine is well tolerated in the acute treatment of MDD in adults, especially at a dosage of 20 mg/d, and is better tolerated than the recommended doses of TCAs.

Adolescent↗
PubMedDate not supplied

Mucosal pathology of the upper gastrointestinal tract associated with intensive chemotherapy in children: vitamin A supplements do not prevent lesions.

Intensive chemotherapy (ICT) for a malignant disease in children may be associated with clinically significant mucosal lesions of the upper gastrointestinal tract. This prospective and randomized study was conducted to evaluate more thoroughly the mucosal damage and to find out whether vitamin A therapy might prevent the development of these lesions. Gastroduodenoscopy and non-invasive methods were used to examine a consecutive series of 20 patients (10 females, 10 males, aged 1-15 years) 4 weeks after initiating the therapy regimen. Half of the patients were randomized to take vitamin A supplements for 6 weeks. During a follow-up of 6 weeks, 13 (65%) reported some symptoms of the gastrointestinal (GI) tract, diarrhea and mouth pain being most prominent. Endoscopic abnormalities were found in 13 (65 %) subjects: esophagitis in 10, erosive duodenitis in 8, and gastritis in 7. Histologically, 11 subjects had duodenitis, 5 had gastritis, 3 had eosinophilic esophagitis, and 2 had lymphocytic esophagitis. Both endoscopic and histological abnormalities of the duodenum showed a close relationship with long-term (more than 2 weeks) granulocytopenia. The 4 patients with the most extensive endoscopic abnormalities were treated with HCl inhibitors, and re-endoscopy performed 4-8 weeks later showed complete recovery. The sugar permeability values, measured as the lactulose/mannitol ratio were comparable to the values obtained in the controls, and lactose intolerance was found in only 3 (20%) of the 15 children able to perform the breath test. Both the incidence of the reported GI symptoms and the endoscopically or histologically observed GI lesions were similar in the subjects randomized to take vitamin A supplements as in the controls. In this study, two-thirds of children with ICT showed erosive mucosal lesions of the upper gastrointestinal tract, and vitamin A therapy failed to prevent them. Endoscopic examination is recommended if a patient has severe symptoms indicative of mucosal pathology.

Adolescent↗
PubMed1995

Nefazodone: a new antidepressant.

The chemistry, pharmacology, pharmacokinetics, and clinical efficacy of nefazodone hydrochloride, a new antidepressant, are described. Nefazodone enhances serotonin (5-hydroxytryptamine [5-HT]) synaptic transmission by acting as an antagonist at 5-HT2 receptors and by inhibiting the reuptake of 5-HT. These two mechanisms combined may enhance 5-HT1A-mediated transmission. In addition, nefazodone weakly inhibits the reuptake of norepinephrine. Nefazodone is a structural analogue of trazodone but is pharmacologically distinct. In placebo-controlled trials, nefazodone was as effective as imipramine for the treatment of major depression and produced clinical benefits in patients with depression-related anxiety and sleep disturbances. More than 2000 patients have received nefazodone in clinical trials. The most commonly reported adverse drug reactions (ADRs) are asthenia, somnolence, dry mouth, nausea, constipation, dizziness, lightheadedness, confusion, abnormal vision, and blurred vision. The incidence of sexual-dysfunction ADRs may be less than that reported for other antidepressants. Nefazodone does not inhibit rapid-eye movement sleep. Nefazodone, an inhibitor of the hepatic P-450 isoenzyme CYP3A4, may increase concentrations of drugs metabolized by this isoenzyme, such as terfenadine, astemizole, triazolam, alprazolam, and midazolam. Caution should be exercised in administering nefazodone hydrochloride with triazolobenzodiazepines, and coadministration with terfenadine or astemizole is contra-indicated. The dosage should start at 100 mg twice daily and then be increased, depending on occurrence of ADRs and the patient's clinical response, to 300-600 mg daily. In elderly or debilitated patients, the initial dosage should be half the usual dosage. Nefazodone hydrochloride is as effective as other available antidepressants and may cause fewer ADRs.

Animals↗
PubMed1994

Attrition and use of proxy respondents and auxiliary information in the Sicilian Neuroepidemiologic Study.

Two-phase prevalence surveys with screening (phase 1) and examination (phase 2) are useful for some chronic diseases. Attrition, which may bias estimates, occurs in either phase because some eligible subjects die before contact, some refuse to cooperate, some are incapacitated, and some are unreachable. This investigation relates to a survey of neurologic diseases conducted in three municipalities of Sicily (prevalence date, November 1, 1987) and considers the attrition experienced and the use of proxy respondents in phase 1 and auxiliary information in phase 2 to offset, in part, this attrition. Regarding case finding, the salvage effort was more productive for decreased and incapacitated subjects. The age, sex, and household size of the subject were related to phase 1 attrition, but only age was related for all four attrition groups--deceased, refusing, incapacitated, and unreachable subjects. On the basis of information from proxy respondents, the educational levels of refusing and unreachable subjects were compared with those of subjects screened directly. Refusing subjects were less educated, and unreachable subjects were more educated. The proxy respondent performance, as indicated by "don't know" responses, was better with screening items concerning facial paralysis and mouth drooping (and not limb sensory abnormalities or impaired consciousness), better with younger subjects, and worse with refusing or incapacitated subjects.

Adolescent↗
PubMed2000

Food protein-induced enterocolitis syndrome: laboratory perspectives.

The expression of food protein allergy in man is very heterogeneous, varies with the age of the subject and is to a certain extent genetically determined. Skin prick tests with standardized food extracts are a sensitive method for detection of immunoglobulin E bound to reactive cells such as mast cells. Various tests on cellular immunity have been developed, especially because T-cell mediated reactions are considered to play a role in mainly delayed gastrointestinal reactions to cow's milk proteins. Food allergy may involve the entire gut, from mouth to rectum, including the esophagus. Abnormalities in intestinal permeability are the hallmarks of the inflamed gut, and may contribute to diagnosis of food induced enteropathy. What determines the characteristics of the intestinal inflammatory response is largely the cytokine responses triggered by the pathologic mechanism, whatever its origin, in the stomach, the small intestine, and the colon. A so-called T-helper type 2 response is characteristic of the allergic subject. A secretion of tumor necrosis factor-alpha alpha by blood cells of children allergic to milk was shown. All means of investigation may help in analyzing food substitutes for allergic infants.

Dietary Proteins↗