Prenatal ultrasonographic diagnosis of the cerebro-costo-mandibular syndrome: case report and review of the literature

Oxethazaine (OXZ), a potent topical anesthetic, was found to induce red blood cell (RBC) lysis in vitro, depending upon concentrations of OXZ, RBC and Ca2+. In a 2% RBC suspension, 100 microM OXZ caused almost complete hemolysis in the presence of 1.3 mM Ca2+ with only a minimal effect in its absence, while higher concentrations of OXZ (400 microM<) produced hemolysis without Ca2+. The hemolysis induced by OXZ plus Ca2+ was preceded by a rapid increase in 45Ca2+ uptake by RBCs, with both the hemolysis and Ca2+ uptake being inhibited by 1 mM CoCl2, NiCl2, and quinine. Together with the Ca2+ influx, rapid influx of Na+ and efflux of K+ occurred, and an increasing external K+/Na+ concentration ratio inhibited both hemolysis and Ca2+ influx. Morphologically, OXZ plus Ca2+ caused rapid transformation to spheroechinocytes, the formation of blebs and the pinching-off of blebs, whereas OXZ alone produced membrane invagination. SDS-PAGE analysis of the ghosts prepared from the RBCs treated with OXZ plus Ca2+ revealed derangement of cytoskeletal components. OXZ is a rare drug that exhibits a Ca2+ ionophore-like action, increasing the Ca2+ permeability of plasma membranes.     

Prenatal sonographic diagnosis of Treacher Collins syndrome: a case and review of the literature

We report the prenatal ultrasonographic diagnosis of a fetus with mandibulofacial dysostosis (Treacher Collins syndrome). Sonographic findings included: polyhydramnios, microcephaly, abnormal fetal facial features (slanting forehead, microphthalmos, micrognathia), and abnormal fetal swallowing. A review of the current literature pertaining to prenatal diagnosis of this condition is presented.     

Prenatal diagnosis of prune belly syndrome at 12 weeks of pregnancy: case report and review of the literature

Cancer is primarily a disease of ageing epithelia, and of ageing individuals. We now possess detailed insights into the changes in cell regulatory genes and DNA repair systems which accumulate with time and which manifest in malignancy. These demonstrate how cancer is frequently characterized by degenerative change in the genotype, from the most subtle base pair mutations to gross aneuploidy, and by deterioration in cell and tissue regulatory control, be it of proliferation, programmed cell death or signalling. Cancer may thus be as much a phenomenon of loss or deterioration of normal genomic control as of the acquisition of new, neoplastic functions. This distinction may be more than semantic, not least because it governs our approach to the search for therapeutic strategies. This essay considers the concept of cancer as a degenerative disease and its implications, and proposes the neologism aldoplasia to describe this phenomenon of cancer biology.     

Multiple hydatid cysts of the brain: a case report and review of the literature

Multiple hydatid cysts of the brain are uncommon and may be either primary or secondary. We report a 12-year-old child with multiple hydatid cysts of the brain occurring 1 year after surgical rupture of a primary large and infected cerebral hydatid cyst. Surgical removal of hydatid cysts was successfully performed. Albendazole (10 mg/kg twice daily for 12 weeks) was administered to the patient in the postoperative stage.     

Prenatal diagnosis of cardiac osteoma: a case report

Primary benign intracardiac tumours in the infant period are rare. We report a case of a cardiac osteoma detected at 17 weeks of gestation. Ultrasonographically, it appeared as a calcified mass with a sharp margin and was associated with hypoplastic right ventricle. The gross and histological findings are presented.     

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.     

Bilateral elastofibroma: a case report and review of the literature

Elastofibroma, or elastofibroma dorsi as it was first described, is an uncommon tumor-like process that characteristically appears as an ill-defined mass in the infrascapular region of elderly patients. This lesion can occur bilaterally and may appear asynchronously. The occurrence of elastofibroma in other anatomic sites has been reported, although with much less frequency. Elastofibromas display typical diagnostic histologic, cytologic, and electron microscopic features. The use of magnetic resonance imaging can lead to a presumptive diagnosis in elderly individuals with suprascapular lesions. It is important to differentiate this lesion from other soft-tissue lesions, such as sarcomas and desmoid tumors. This study presents a case of bilateral elastofibromas in a 72-year-old man and a review of the literature.     

Duodenal phytobezoar: a case report and review of the literature

Phytobezoars are an unusual cause of small bowel obstruction. We report a case of small bowel obstruction due to phytobezoar in a 63 year-old female patient who had undergone gastric surgery (truncal vagotomy with pyloroplasty) for duodenal ulcer disease complicated by gastric outlet obstruction 10 years ago. We diagnosed this bezoar case by radiologic methods and these methods keep their importance for the diagnosis of small bowel obstruction with phytobezoars.     

Atelencephalic microcephaly: a case report and review of the literature

Rapid changes in the circulating blood volume or hemoglobin level during apheresis may pose a risk for healthy individuals donating allogeneic PBSC. In this study, a real-time noninvasive monitor CRIT-LINE was used for continuous monitoring of hematocrit values in a total of 16 aphereses performed in 4 adult (median age 30 years) and 4 pediatric donors (4 years). Donors received recombinant G-CSF (10 microg/kg s.c. for 5 days) for mobilization of PBSC. A CS3000 plus blood cell separator (Baxter) was used in two different procedures. Adults donors were subjected to modified program 1-120 using a combination of the granulocyte chamber and the small volume collection chamber (SVCC), and pediatric donors were subjected to specialized program 4 with a combination of the newly developed small volume separation chamber holder (SVSCH) and SVCC. In all of the procedures for children, the extracorporeal line was primed with 400 ml leukocyte-depleted allogeneic RBC or 200 ml autologous RBC after regular priming with normal saline, whereas none of the adult donors received this treatment. We found a marked contrast in the hematocrit kinetics during apheresis in the two cohorts/procedures. In adults, the initiation of apheresis was followed by an immediate decline in the hematocrit value over the initial 10 min until a stable plateau level was reached (7% decrease). In children, the values decreased slowly but progressively throughout the entire procedure to finally reach a 9% decrease at the completion of apheresis. These data may suggest that the use of SVSCH plus SVCC or priming with RBC can eliminate the abrupt decline in blood hemoglobin levels that occurs during apheresis.     

Riedel's thyroiditis: a case report and review of the literature

Riedel's thyroiditis is a very rare disease of unknown aetiology, occasionally associated with retroperitoneal and mediastinal fibrosis. It is a benign condition, but may be confused with an anaplastic carcinoma of the thyroid. The differential diagnosis with anaplastic carcinoma is assured only by intraoperative biopsy. The Authors report a clinical case: symptoms were a progressive enlargement of the thyroid gland, left recurrential palsy, dyspnoea and dysphagia. The surgical treatment was total thyroidectomy, performed with bilateral neurolysis of recurrent nerves. The patient was also under adjuvant corticosteroid treatment.     

Cryptococcal myositis: a case report and review of the literature

Only rare cases of cryptococcal myositis have been previously reported in the literature. All of these cases have occurred in the setting of human immunodeficiency virus (HIV) infection. We report a case of cryptococcal myositis diagnosed premortem on a needle biopsy in a heart transplant patient undergoing immunosuppressive therapy.     

Antenatal diagnosis of brain damage in the survivor after the second trimester death of a monochorionic monoamniotic co-twin: case report and literature review

At 28 weeks of amenorrhea, 1 fetus of a monoamniotic twin pregnancy died. Ultrasound and Doppler investigations of the surviving twin were normal. Three weeks later, endovaginal ultrasound and magnetic resonance imaging revealed massive bilateral cerebral ischemic necrosis in the surviving twin. In utero fetal blood sampling carried out before the termination did not reveal either anemia or thrombopenia. Current data suggest that cerebral or renal ischemic complications could set in immediately after the death of the first twin as a result of a period of acute hypotension. At least 2 weeks are necessary for them to be identifiable by ultrasound. It seems that they cannot be prevented by prompt delivery of the second twin.     

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.     

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.     

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.     

Odontogenic keratocysts: review of the literature and report of a case

The beta 3-adrenergic receptor (beta 3AR) is expressed in visceral fat and is a regulator of resting metabolic rate, thermogenesis, and lipolysis. We genotyped 61 unrelated Mexican Americans for a variant in the beta 3AR gene (codon 64 TGGTrp-->CGGArg; TRP64ARG). The allele frequency was 0.13. The TRP64ARG variant was significantly associated with an earlier age of onset of non-insulin-dependent diabetes mellitus (41.3 +/- 4.6 years vs 55.6 +/- 2.6 years; P < 0.02) and in non-diabetics, with elevated 2-h insulin levels during an oral glucose tolerance test (810 +/- 120 pmol/l vs 384 +/- 6 pmol/l; P < 0.005). Non-diabetic subjects with the variant allele tended to have higher body mass indices (BMI), waist-to-hip ratios, and diastolic blood pressures. The study group was expanded to include 421 related subjects from 31 families in the San Antonio Family Diabetes Study. Using a measured genotype analysis approach to estimate genotype-specific means for each trait, those who were homozygous for the TRP64ARG variant had significantly higher 2-h insulin levels (P = 0.036) and trends towards higher BMI compared to the other two genotypes. We detected no associations of these traits in the TRP64ARG heterozygotes in the larger group. We conclude that the TRP64ARG beta 3AR variant is a susceptibility gene for several features of the insulin resistance syndrome in Mexican Americans. Since its effects are modest, study design (e.g., subject selection, genetic background, and statistical analyses) may influence which traits are associated with this variant and whether or not the effect is detectable in heterozygotes.