An Infant Born to a Mother with Gestational Diabetes Presenting with 49,XXXXY Syndrome and Renal Agenesis-A Case Report

49,XXXXY is a rare sex chromosome polysomy with an incidence of 1 in 85 000 male births. It has a characteristic triad of mental retardation, skeletal malformation and hypogonadism. This is the first case report of a child with 49,XXXXY syndrome and renal agenesis. This child was referred for genetic testing at 14 years of age due to facial dysmorphism and hypergonadotropic hypogonadism. He had coarse facial features, cryptorchidism of the right testis, genu valgus deformities, and patent ductus arteriosus which are known associations of 49,XXXXY syndrome. He also had agenesis of the right kidney, hydronephrosis of the left kidney with hydroureter which is not a known association of 49,XXXXY syndrome. The patient was the offspring of a mother with gestational diabetes. There is a strong correlation between maternal diabetes and congenital anomalies, especially renal and cardiovascular anomalies. Additionally, it has been noted that gestational diabetes increases the incidence of chromosomal aneuploidies. The teratogenic effects of maternal diabetes during embryogenesis may be the causative factor for the final phenotype of 49,XXXXY syndrome and renal agenesis.Conflict of interest:None declared.     

Biomechanical analysis of polyaxial locking vs. non-locking plate fixation of unstable fractures of the distal fibula: A cadaver study with a bone only model

Background

Open reduction and internal fixation is the current standard of treatment of displaced distal fibula fractures, whereupon using a lag screw often is impossible because of a multifragmantary fracturezone. This study investigates in what extend polyaxial-locking plating is superior to non-locking constructs in unstable distal fibula fractures.

Successful treatment of idiopathic thrombocytopenic purpura by Chinese herbal medicine EK-49 and ascorbic acid in an elderly patient developing chronic subdural hematoma

Treatment of idiopathic thrombocytopenic purpura can present difficult therapeutic choices. An 88-year-old woman was admitted for treatment of a right subdural hematoma. She had a history of chronic thrombocytopenia, with follow-up evaluations by a local physician. Platelet count on admission was 5 × 10³/µL, with a high serum concentration of platelet-associated immunoglobulin G. Bone marrow examination showed a marked increase in megakaryocytes. The patient was diagnosed with idiopathic thrombocytopenic purpura accompanied by chronic subdural hematoma. An increase in platelet count and gradual resolution of the subdural hematoma were obtained with prednisolone and azathioprine administration, but platelet count decreased when steroid tapering was attempted. Ultimately we administered the Chinese herbal medicine EK-49 and ascorbic acid, with a gradual increase in platelet count and no adverse effects. Some elderly patients with chronic subdural hematoma can be treated non-invasively. Further, a combination of EK-49 and ascorbic acid may be an effective treatment for refractory idiopathic thrombocytopenic purpura.     

Microcatheter-Facilitated Primary Angioplasty in ST-Segment Elevation Myocardial Infarction

Background

Direct stenting is the best method for achieving reperfusion in primary percutaneous coronary intervention (PPCI). We hypothesized that the use of a microcatheter (MC) during PPCI when Thrombolysis in Myocardial Infarction (TIMI) flow ≤ 1 after wire crossing would allow visualization of the downstream artery with an optimal TIMI 3 flow at the end of the procedure.

Trichosporon cutaneum fungemia in patients with acute myeloblastic leukemia and measurement of serumd-arabinitol,Candida antigen (CAND-TEC), and β-d-glucan

Summary Two patients with acute myeloblastic leukemia are described who developed fungemia due toTrichosporon cutaneum. Fungemia occurred at the leukocyte nadir following the administration of anti-cancer chemotherapy. One patient was cured but the other died. Both patients received prednisolone continuously and had central venous catheters in place for parenteral hyperalimentation.T. cutaneum isolates were resistant to 5-fluorocytosine and moderately susceptible to fluconazole. One case was complicated by endophthalmitis due toT. cutaneum; this is the second report of such a complication in the world. We investigated the serum levels of-d-glucan,d-arabinitol, andCandida antigen (CAND-TEC);-d-glucan was elevated in both cases, which suggests that simultaneous measurements of these laboratory values are useful for the diagnosis and possibly for the evaluation of therapy for this fungal infection.     

Vectorcardiographic changes following coronary artery bypass surgery

Myocardial infarction (MI) has been reported to occur in about 15 per cent of patients following coronary artery bypass (CAB) surgery. Preoperative and postoperative electrocardiograms (ECG) were evaluated in 85 patients. Thirty-four of these patients also had pre- and postoperative vectorcardiograms (VCG). Fifteen additional patients undergoing open heart surgery were used as controls. These included aortic valve replacement (in 4), mitral valve commissurotomy (in 6), mitral valve replacement (in 1), atrial septal defect repair (in 3), and repair SVC to LA shunt (in 1). Pre- and postoperative VCG's were analyzed in three planes. The angle of each 10 msec. vector was measured. The maximal voltage was determined along each axis in each plane. Mean changes in these parameters were determined for the controls. Change exceeding two standard deviations from the control mean was considered abnormal and not explainable by trauma of open heart surgery itself. Excluding the six intraoperative deaths, $\text{19}\text{79}$ (24 per cent) had QRS changes of myocardial infarction by ECG. Changes were considered significant in the postoperative VCG if they occurred in at least two consecutive angles in one plane or in the maximum voltage in one axis. The postoperative VCG depicted MI in 34 per cent ($\text{12}\text{34}$). In the absence of classic criteria for MI a significant change in VCG angle occurred in 26.4 per cent ($\text{9}\text{34}$). The voltage in at least one axis changed significantly in 11.8 per cent ($\text{4}\text{34}$). A change in the postoperative VCG was demonstrated in 73.5 per cent ($\text{25}\text{34}$). The pre- and postoperative VCG is a sensitive method of detecting subtle changes in conduction or loss of myocardium seen in the majority of patients following CAB surgery.     

Meta-Analysis of Effects of Digoxin on Survival in Patients with Atrial Fibrillation or Heart Failure: An Update

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