Iniencephaly and long-term survival: a rare case report

Introduction Iniencephaly, a neural tube defect involving occiput and inion and combined with rachischisis of the cervical, thoracic spine, and retroflexion position of the head is a very rare congenital abnormality of the fetus–newborn with a 0.1–10 of 10,000 prevalence. This abnormality’s prognosis is thought to be dismal. This abnormality can be associated with other abnormalities such as anencephaly, encephalocele, hydrocephalus, cyclopia, absence of the mandible, cleft lip and palate, cardiovascular disorders, diaphragmatic hernia, renal abnormalities, overgrowth of the arms compared to the legs, and club food and gastrointestinal atresia. Discussion Most of the patients are dead born, and the others die in a few hours. There are only six previously documented long-term survivors. In our case, our patient with iniencephalic signs and findings is still living. She is 2 years old now. We think that this patient presents a mild form of iniencephaly.     

A mature cystic teratoma in pineal region mimicking parietal encephalocele in a newborn

Objective Teratoma is the most frequently encountered intracranial tumor at birth and constitutes 18–20% of all germ cell tumors. They are usually located in pineal and suprasellar regions. The authors aim to report an extremely unusual presentation, location, and appearance of a teratoma in a newborn. Case report A soft tissue swelling in the vertex was detected in a 1-month-old girl. Neurological examination was normal. A big, cystic–solid lesion beginning from pineal region and extending to the scalp was detected in magnetic resonance imaging. It is interesting to note that cerebral venous angiography showed that the superior sagittal sinus (SSS) was divided into three branches at the level of the lesion and they joined together distally. The tumor was excised totally. Histopathological examination revealed the diagnosis of a mature cystic teratoma. Conclusion A mature cystic teratoma mimicking parietal encephalocele is extremely rare. Germ cell tumors should be kept in mind in the differential diagnosis of all midline lesions with unusual radiographic appearance. Cerebral venous angiography or MR angiography must be performed for the diagnosis and the surgical planning in lesions located near SSS.     

Role of insulin like growth factor-I in repair response in immature cartilage

OBJECTIVE: The purpose of this study was to investigate the effects of exogenous local Insulin like growth factor-I (IGF-I) on the repair of full-thickness articular cartilage defects in immature rabbits. DESIGN: Thirty-six skeletally immature New Zealand rabbits between 6 and 8 weeks old were used. A single defect, 3.5-mm-wide by 4-mm-deep full-thickness articular cartilage defect in the medial femoral condyle, was created. The defect was either filled with a collagen sponge or with a collagen sponge impregnated with 5 mug of recombinant IGF-I. The animals were sacrificed at 4, 8 or 12 weeks, and the repair tissue was examined macroscopically and histologically. Repair tissue was also examined immunohistochemically for the presence of type-I collagen, type-II collagen and PCNA at all weeks. RESULTS: Newly formed tissue in all of the defects in the IGF-I group had the gross, histological and histochemical appearance of a smooth, intact hyaline articular cartilage. The average total scores on the histological grading scale were significantly better (p<0.05) for the defects treated with recombinant IGF-I at all time points. Immunostaining with an antibody against type-II collagen showed the diffuse presence of the repair cartilage in the IGF-I treated defects. The control groups demonstrated minimum staining with type-II collagen antibody. CONCLUSIONS: These findings suggest that repair of full-thickness immature cartilage defects can be enhanced by recombinant IGF-I.     

Oxidative stress and enzymatic antioxidant status in patients with nonalcoholic steatohepatitis

Oxidative stress is an important pathophysiological mechanism in nonalcoholic steatohepatitis (NASH). To assess whether there are relationships between oxidative stress and antioxidant enzymes in the development of NASH, we investigated oxidative stress by measuring serum malondialdehyde (MDA) and nitric oxide (NO) and antioxidant status by measuring serum glutathione (GSH), glutathione peroxidase (GSH-Px), glutathione reductase (GR), and superoxide dismutase (SOD). The study included 18 patients (13 men, 5 women; mean age 42 yr) with biopsy proven NASH and 16 healthy volunteers (10 men, 6 women; mean age 38 yr). Serum levels of MDA, NO, GSH, GSH-Px, GR and SOD were determined by spectrophotometric methods. Serum levels (mean +/- SD) of MDA (6.7 +/- 1.6 vs 2.8 +/- 1.7 nmol/ml, p 0.0001), NO (135 +/- 28 vs 113 +/- 35 mmol/L, p 0.04), GSH (919 +/- 137 vs 770 +/- 128 mmol/L, p 0.003) were increased in patients with NASH vs controls. Serum levels of GSH-Px (1063 +/- 152 vs 1000 +/- 94 U/L) and GR (47 +/- 22 vs 40 +/- 21 U/L) were not singnificantly different in the patients vs controls. However, the serum level of SOD (1.24 +/- 0.32 vs 1.51 +/- 0.37 U/ml, p: 0.04) was significantly decreased. Impaired antioxidant defense mechanisms may be an important factor in the pathogenesis of NASH. Treatment approaches that affect the antioxidant enzymes may be beneficial in patients with NASH.     

ASO Visual Abstract: Prediction of Pathologic Complete Response in Breast Cancer Patients Comparing Magnetic Resonance Imaging with Ultrasound in the Neoadjuvant Setting

Annals of Surgical Oncology -     

Infarction of the septomarginal band and tricuspid papillary muscle rupture related to alcohol septal ablation for hypertrophic cardiomyopathy

We presented a 77‐year‐old man with hypertrophic obstructive cardiomyopathy applied with flail tricuspid leaflet and severe tricuspid regurgitation leading to right heart failure 2 months after the failed septal ablation. The ruptured anterior tricuspid papillary muscle resulted from infarction of the base of anterior papillary muscle of the right ventricle (RV) confirmed by magnetic resonance imaging. As the septomarginal band is frequently lit up by intracoronary contrast that particular attention should be paid to the RV papillary muscles. And, if the papillary muscles or the RV free wall is brightened, then the use of that septal artery should be avoided.     

Exercise testing induces fatal thromboembolism from mechanical mitral valve

Thromboembolism is still one of the most important complications of prosthetic heart valves. Embolism to a major coronary branch is rare, but acute proximal occlusions can be fatal, even when the coronary arteries are otherwise normal and intervention is rapid. We report a fatal complication of an exercise test in a patient who had a St. Jude bileaflet mitral valve. After an exercise test, a 42-year-old woman with a mechanical prosthetic valve had a severe hemodynamic collapse with acute ST segment changes. Coronary angiography showed a totally occluded left main coronary artery with TIMI grade 0 to 1 flow. Rapid injection of contrast material and the passage of a floppy guidewire through the thrombus restored a TIMI grade 3 flow. Angiography showed no coronary atherosclerostic involvement. Despite successful coronary reperfusion, intra-aortic balloon counterpulsation, and intensive medication, the patient died. This case demonstrates that exercise testing should be applied with great caution in patients with prosthetic valves, and only after a careful evaluation of valve function. We recommend transesophageal echocardiography prior to exercise testing in these patients.     

Plasma and bronchoalveolar lavage fluid levels of endothelin-1 in patients with chronic obstructive pulmonary disease and pulmonary hypertension

BACKGROUND: Secondary pulmonary hypertension (PH) and cor pulmonale are the major clinical cardiovascular complications affecting prognosis in patients with chronic obstructive pulmonary disease (COPD). It is also known that endothelin-1 (ET-1) is a potent vasoconstrictor peptide produced by the pulmonary vascular endothelium, and ET-1 may be implicated in the pathogenesis of PH. OBJECTIVES: The purpose of this study was to investigate the presence of ET-1 in patients with COPD and to assess the correlation of ET-1 levels in the plasma and bronchoalveolar lavage (BAL) fluid (BALF) in COPD patients with or without PH. METHODS: Twenty-two patients with COPD and 15 healthy controls were enrolled in the study. Peripheral venous blood samples were collected in all patients and controls. BAL was obtained in COPD patients, and ET-1 levels were measured by radioimmunoassay in all plasma and BALF samples. RESULTS: Plasma ET-1 levels were 2.46 +/- 0.55 and 1.70 +/- 0.42 pmol/dl in patients with COPD and controls, respectively (p < 0.0001). Sixteen of the 22 patients with COPD (73%) had PH established by echocardiography. The ET-1 level in these patients amounted to 2.59 +/- 0.50 pmol/dl, and it was 2.10 +/- 0.54 pmol/dl in 6 patients with COPD without PH. In COPD patients with and without PH, BALF ET-1 levels were 0.19 +/- 0.08 and 0.24 +/- 0.01 pmol/dl, respectively (p > 0.05). CONCLUSIONS: These results suggest that ET-1 is detectable in both the peripheral blood and BALF of COPD patients, but the levels do not statistically differ between patients with and without PH.