Ectodermal dysplasia in adulthood: the restorative difficulties and management

Ectodermal dysplasia can result in a number of oral problems. As the condition is usually diagnosed in childhood, multidisciplinary specialist dental care at an early age may minimize the long-term dental complications. This article describes the restorative management of an adult patient suffering from ectodermal dysplasia for whom such support was not available, resulting in the provision of complex and highly invasive restorative treatment in adult life to provide a functional and aesthetically acceptable dentition. The various treatment options that were considered are discussed together with the details of the treatment provided.     

Frontofacionasal dysplasia: a new case and review of the phenotype

The structural features of Arg-Gly-Asp-related sequences have been investigated by 1H and 13C NMR. Two linear peptides which inhibit platelet aggregation with a high efficiency have been studied: D-Arg-Gly-Asp-Trp and L-Arg-Gly-Asp-Trp. Analysis of pH titration effects, amide proton exchange rates and inter-proton distances obtained from ROESY spectra suggest that these small fragments predominantly adopt a type II' beta-turn structure in solution. Folding features of a non-active cyclic peptide based on the same sequence (cyclo-[Arg-Gly-Asp-Trp]2) have also been investigated. The biological relevance of these structures is discussed.     

Chorea gravidarum: a case report and review

A 23-year-old pregnant Pakistani female presented with hemichorea and hemiballismus at six weeks gestational age. Similar symptoms had occurred during a previous pregnancy resulting in a spontaneous abortion. Chorea gravidarum, a disorder characterized by choreiform and athetoid movement presenting during pregnancy, is rare. In the past, rheumatic disease was generally the etiology, but today, collagen vascular disease should also be considered. Treatments include neuroleptics for symptomatic relief and therapies targeted toward the underlying pathology.     

Choroidal melanoma: a review and case report

BACKGROUND: Choroidal melanoma is the most common primary intraocular malignancy in adults. The ongoing Collaborative Ocular Melanoma Study (COMS) was designed to provide specific answers for the management of medium and large choroidal melanomas. The present consensus among authorities is that small (< 3 mm thick) suspected choroidal melanomas can be conservatively managed with periodic observation for evidence of growth. CASE REPORT: Dilated fundus examination of a 68-year-old man revealed a pigmented uveal lesion straddling the ora serrata inferiorly at 5:30 in the right eye. It measured 5 mm in diameter with transillumination and 2.89 mm in thickness with B-scan ultrasonography. Questioning a small choroidal melanoma the patient was referred to an ocular oncologist, who confirmed the lesion was suspicious for choroidal melanoma. CONCLUSION: Although there are clinical signs that suggest lesion growth, true growth must be recorded with serial photographs, ultrasound, and transillumination. Active therapy should usually begin once lesion growth is documented.     

Fibromuscular dysplasia associated with intracranial giant aneurysm: report of a case

Although the correlation between fibromuscular dysplasia (FMD) and intracranial aneurysm is well established, the combination of FMD with a giant aneurysm is rare. This paper reports a patient with extracranial FMD associated with a giant intracavernous aneurysm compromising the trigeminal and abducens nerve. A review of the literature uncovered only four documented cases of FMD with concurrent giant intracranial aneurysms. The present case adds further weight to the argument for including FMD in the differential diagnosis list when confronted with a patient with a giant intracranial aneurysm. Absence of adequate collaterals in this patient eliminated ligation as a treatment strategy for the aneurysm.     

Congenital microgastria: a case report and review of literature

Congenital microgastria is an uncommon result of impairment of normal foregut development. To date, only 39 cases have been described in the literature. We report a boy born with microgastria and bilateral hypoplastic kidneys who had feeding problems, resulting in failure to thrive and growth retardation. After a short period of conservative management, he was operated upon at the age of 11 months. A Hunt-Lawrence pouch was created, leading to toleration of increasing amounts of oral feeding. Although his feeding problems have decreased, his height and weight are below normal (<10th percentile). The embryology, clinical presentation, diagnostic procedures, associated anomalies, and management are discussed.     

Gastric leiomyoblastoma: literature review and report of a case

The extended V-Y flap, a modified V-Y advancement flap, is very useful in closing relatively large defects on the face. Its extension limb is hinged down as a transposition flap on the end of the V-Y advancement flap to close the most distal portion of the defect. We applied this flap in closing a defect following excision of skin tumors on the face with excellent cosmetic results in 11 patients. However, this flap tended to make a distortion at the base of the flap in the primary closure site. By drawing figures, we concluded that the distortion was due to the characteristic of this technique as a V-Y advancement-rotation flap or V-Y advancement flap with rotation.     

MURCS association: case report and review

We report on a 25 year old woman with aplasia of the Müllerian duct, unilateral renal agenesis, and anomalies of the cervicothoracic somites (MURCS association). Growth retardation and facial asymmetry were also present. A review of published reports allows MURCS association to be distinguished from related associations, sequences, and syndromes. Moreover, sporadic occurrence, the broad spectrum of associated anomalies, and the involvement of different organ systems closely related in early embryogenesis are arguments for considering MURCS association as the consequence of a developmental field defect.     

Streptococcal pyomyositis: case report and review

Pyomyositis is most often associated with Staphylococcus aureus infections after trauma. We describe an unusual presentation of pyomyositis of the chest wall secondary to group A betahemolytic streptococcus infection in a 15-month-old child with acute abdominal symptoms. In addition, the patient had no history or evidence of trauma to the affected area. Pyomyositis presenting in this manner secondary to group A beta-hemolytic streptococcus infection in the absence of a primary varicella infection has not been previously reported.     

The abductor digiti minimi flap: a case report and review

The use of an abductor digiti minimi flap is reported here for coverage of a dorso-ulnar defect of the hand following excision of a tumour. This flap has not been widely used before. The abductor digiti minimi flap appears to have minimal donor site morbidity and a reliable vascular supply, and is straightforward to raise. The authors consider it would be a useful flap to provide cover on the ulnar side of the hand and wrist in patients who do not require highly dextrous use of the little finger.     

Death from fright: report of a case and literature review

A case report is presented illustrating the thesis that fear of fantasy material may trigger off a physiological process leading to death.     

Complications of suicidal hanging: a case report and brief review

Suicide remains a significant societal dilemma commonly presenting as an acute medical emergency. Presented is a report of a near-hanging suicidal attempt by a 30-year-old, active duty Navy man. This case documents local injuries and neurologic and cardiopulmonary complications of near-fatal suicidal hanging, which is a common method of suicide in the United States.     

Melanotic progonoma of the brain: a case report and review

So far, only 25 melanotic progonomas have been found in the central nervous system (male/female ratio 3.5), mostly located in the cerebellum. The average age is 8 years (range 3.5 months to 69 years) with 85% becoming clinically apparent in the first decade of life; 73.7% of the patients reported succumbed to their disease at a mean age of 2.8 years, with a postoperative survival time of just 9 months. Systemic metastases were reported in 9 cases and had mostly spread via cerebrospinal fluid. In contrast to peripheral melanotic progonomas usually found in the maxilla, cerebral progonomas have a much worse outcome and have to be regarded as malignant. We present the case of a 1-year-old boy suffering from a melanotic progonoma of the pineal gland, who died at the age of 22 months with extensive spinal and abdominal metastases 10 months after partial removal of the tumor.     

Gallbladder diverticulum: a case report and review of the literature

BACKGROUND: The clinical significance of the 14 and 6 positive spikes (PS) electroencephalographic (EEG) phenomenon is not well established. This study was performed to provide further data regarding the clinical correlates of the PS, particularly attention-deficit/hyperactivity and somatic symptoms. METHODS: Diagnostic information gathered through structured interviews was compared among four groups of psychiatric inpatients aged 4-17 years who underwent an EEG examination over a 2-year period. Groups consisted of patients with: 1) 14 and 6 PS (n = 25); 2) epileptic discharges (n = 29); 3) slow-wave abnormalities (n = 23); and 4) a normal EEG group age and sex matched to the 14 and 6 PS group (n = 25). RESULTS: Attention-deficit hyperactivity disorder (ADHD) symptoms were significantly more frequent in the PS group (chi 2 = 2.96, p < .05) compared to the other three groups combined. Although somatic symptoms were not increased in the 14 and 6 PS group, anxiety symptoms tended to occur more in this group (chi 2 = 3.50, p < .06). CONCLUSIONS: The PS profile appears associated with ADHD symptoms. Possible treatment implications of this finding (e.g., use of anticonvulsants in ADHD patients with PS) need to be explored.