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[Heredity as an etiologic factor in dentistry (oral genetics)].

The oral genetics is the part of the stomatology that is related to the questions of heredity. The oral genetics searches the typical morphological characteristics, the congenital anomalies, other pathological alterations and diseases, as well as hereditary syndromes. The author describes the genetical relevance of the two most important oral diseases: caries and parodontopathy.

Dental Caries↗

[The "anti-Ki" syndrome: major clinical features].

OBJECTIVE: To describe the major clinical features of patients with high titers of anti-Ki antibodies. METHOD AND RESULTS: Four of 172 patients with connective tissue diseases showed high titers (> 1/256) of anti-Ki antibodies. In these four patients, (1) the common clinical findings were alopecia, disabling chronic fatigue, muscle weakness, tenosynovitis, dry mouth, and abnormal glucose tolerance test; (2) anti-Ki antibodies were positive not only in patients with sicca lupus, but also in those with nonsicca lupus. In this case, anti-insulin receptor antibody was positive and there was a regulatory insufficiency of the pituitary. (3) Symptoms of anti-Ki antibodies share many clinical and laboratory features of chronic fatigue syndrome and fibromyalgia, that is, they may share either a common etiologic agents or a common pathogenetic pathway or both. CONCLUSION: "Anti-Ki antibody" syndrome may be a subset of sicca lupus.

Adolescent↗

Accessory jaw and mouth: report of case.

A rare case of teratoma, presented with a double mandible and double mouth, mucous secretions and two teeth erupting in the accessory mouth. There are numerous supernumerary teeth in the main body of the mandible, and geminated primary teeth in the mandibular arch. There was a history of cleft palate.

Child, Preschool↗

A typical Hallermann-Streiff syndrome in a 3 year old child.

Hallermann Streiff syndrome is a rare congenital disorder characterized by dyscephaly, dental anomalies, proportionate nanism, hypotrichosis, cutaneous atrophy limited to the head, bilateral congenital cataracts and bilateral microphthalmia. Despite the marked craniofacial characteristics and oral findings, a relative lack of reports in the dental literature has been noted. In this article, a review of the literature regarding the general clinical features and differential diagnosis is presented. A case of a 3-year-old female is reported with special consideration on the management of her dental problems under general anesthesia. The anesthetic risks of such a procedure as well as the prognosis of her dental development are being discussed.

Anesthesia, Dental↗

Fragile 'X' syndrome. A case study.

Fragile 'X' syndrome also known as the Martin-Bell syndrome or the marker 'X' syndrome is an 'X'-linked disorder with connective tissue dysplasia and varying degree of mental retardation. A case of this syndrome with characteristic Martin-Bell phenotype is presented. Oral features as yet unmentioned are added.

Adolescent↗

Clinical audit activities in surgery.

Large scale audits can attract the participation of the majority of surgeons. They require careful planning and must be supported by an infrastructure to co-ordinate the running of the audit and to ensure accuracy of data. Audits can be important sources of information for the development of evidence-based guidelines, and this approach is a good strategy for bringing the lessons obtained from the audit to the profession. Audits that work closely with professional bodies produce the best results and are enhanced by patient representation. Risk stratification is an essential component of comparative studies and should be incorporated to ensure that multi-centre audits are systematic.

Child↗

Familial, obstetric, and other clinical correlates of minor physical anomalies in schizophrenia.

OBJECTIVE: This study investigated possible antecedents of minor physical anomalies in schizophrenia, particularly in terms of obstetric and genetic factors, and demographic, clinical and cognitive correlates of such anomalies in schizophrenia. METHOD: Forty-one outpatients satisfying the DSM-III criteria for schizophrenia were examined for minor physical anomalies by using the Waldrop scale. These subjects were drawn from a group of 45 such patients whose cognitive function had been previously evaluated with Trail Making Tests A and B and whose biological mothers had been interviewed for any history of obstetric complications or family history of schizophrenia. RESULTS: Linear multiple regression analysis showed that higher scores for minor physical anomalies were associated with impaired cognitive flexibility on Trail Making Test B, family history of schizophrenia in a first-degree relative, maternal history of obstetric complications, smaller number of siblings, later position in the birth order, and male sex. A family history of schizophrenia was particularly associated with abnormalities of the mouth. The association between minor physical anomalies in the patients and obstetric complications in their mothers appeared to be confined to instances in which the mother had a history of bleeding in early pregnancy. CONCLUSIONS: Minor physical anomalies indicate early dysmorphogenesis in schizophrenia, particularly in males, which appears to be associated more reliably with genetic rather than obstetric factors and with cognitive impairment.

Adult↗

Abnormalities of the blink reflex in burning mouth syndrome.

To our knowledge, this is the first report on pain-related abnormalities of the eye blink reflex (BR) in a clinical pain patient population. The objective of this study was to evaluate the possible neuropathic mechanisms underlying the burning mouth syndrome (BMS), by means of objective electrophysiological examination of the trigemino-facial system. We studied the BR with stimulation of the supraorbital nerve (SON) with particular emphasis on the occurrence of the pain-related ultralate R3 components, and the habituation response of the R2 components. The subjects consisted of eleven BMS patients and 10 healthy control subjects. All patients underwent thorough clinical oral and neurological examinations. The motor function of the trigeminal nerve was assessed with a jaw reflex recording, and a needle-EMG examination of the facial and masticatory muscles was performed in the patients with abnormalities in the BR recordings. The jaw reflexes, the latencies of the BR components, and the needle-EMG examinations were normal in all patients. As a group, the BMS patients had statistically significantly higher stimulus thresholds for the tactile R 1 components of the BR compared with the control subjects. With non-noxious stimulation, the BMS patients showed more frequently pain-related R3 components (11/22 SONs) compared with the controls (3/20 SONs). In addition, four BMS patients had abnormal habituation of the R2 components. In two of these patients, the findings were segmental (i.e., unilateral), coinciding with the side of the subjective BM symptoms. The abnormalities of the BR tests appeared to be related to longer disease duration. Our results suggest a possible pathologic involvement of the nervous system in chronic BMS.

Aged↗

Gastrointestinal transit through esophagus, stomach, small and large intestine in patients with progressive systemic sclerosis.

Liquid esophageal transit and gastric emptying, mouth-to-cecum transit, and whole gut transit of a solid-liquid meal were measured in 14 patients with PSS, 16 control subjects (esophageal transit), and 20 control subjects (gastrointestinal transit), respectively, by using scintigraphic techniques, the hydrogen breath test, and stool markers. In patients with PSS, the glucose hydrogen breath test for detection of small intestinal overgrowth was performed and various gastrointestinal symptoms were determined. Esophageal transit and gastric emptying were significantly prolonged in PSS patients with 11 of 14 PSS patients (79%) disclosing delayed esophageal transit and eight of 14 PSS patients (57%) disclosing delayed gastric emptying. All PSS patients with prolonged gastric emptying also had delayed esophageal transit and there was a significant positive correlation between esophageal transit and gastric emptying (r = 0.696, P < 0.01). No significant differences between PSS patients and controls were detected concerning mouth-to-cecum transit and whole gut transit, but abnormally delayed mouth-to-cecum transit was found in four of 10 PSS patients (40%) and abnormally prolonged whole gut transit was detected in three of 13 PSS patients (23%). Small bacterial overgrowth was diagnosed in three of 14 PSS patients (21%). Delayed esophageal transit and gastric emptying were associated with dysphagia, retrosternal pain, and epigastric fullness, while prolonged whole gut transit was associated with constipation. It is concluded that delayed gastric emptying is frequently associated with esophageal transit disorders in PSS patients and may be one important factor for the development of gastroesophageal reflux disease in these patients.

Adult↗

Orotracheal intubation.

The advantages of endotracheal intubations are many: patency of airway is reasonably assured, secretions may be removed easily from the tracheobronchial tree, the airway is better protected against aspiration, ventilation can be regulated, and drugs can be administered. The procedure is the "gold standard" of airway control, and the oral route is the most common used. The patient is assessed for potential difficulties that may arise from abnormalities of face and mouth: large face, large tongue, hypoplastic mandible, prominent or diseased maxillary teeth or facial fractures; or abnormalities of the neck: potential or real cervical spine instability, swelling, or laryngeal trauma. A plan is devised, together with one or more alternatives, should unforeseen difficulties arise, and in adherence to the principle of never removing the compensations of a coping patient. The skill is learned and practiced so that a gentle facility is always present at times of greatest need.

Cervical Vertebrae↗

Characterization of the Tribolium Deformed ortholog and its ability to directly regulate Deformed target genes in the rescue of a Drosophila Deformed null mutant.

We have analyzed the Tribolium castaneum ortholog of the Drosophila homeotic gene Deformed (Dfd) and determined its expression pattern during embryogenesis in this beetle. Tc Deformed (Tc Dfd) is expressed in the blastoderm and the condensing germ rudiment in a region that gives rise to gnathal segments. During germ band extension Tc Dfd is expressed in the mandibular and maxillary segments, their appendages, and the dorsal ridge. Comparison of insect Dfd protein sequences reveals several highly conserved regions. To determine whether common molecular features reflect conserved regulatory functions we used the Gal4 system to express the Tribolium protein in Drosophila embryos. When Tc Dfd is expressed throughout embryonic ectoderm under the control of P69B, the beetle protein autoregulates the endogenous Dfd gene. In addition, the Drosophila proboscipedia gene (a normal target of Dfd) is ectopically activated in the antennal and thoracic segments. We also compared the ability of the beetle and fly proteins to rescue defects in Dfd- mutants by expressing each throughout the embryonic during embryogenesis. Both proteins rescued Dfd- defects to the same extent in that they each restore the development of mouth hooks and cirri, as well as cause gain-of-function abnormalities of posterior mouth parts. As before, pb was ectopically activated in the antennal segment. This is the first demonstration of the ability of a heterologous homeotic selector protein to directly regulate a target gene independent of an endogenous Drosophila autoregulatory loop.

Amino Acid Sequence↗