Scarcity despite wealth: osteopetrorickets

Infantile malignant osteopetrosis is a rare and genetically autosomal recessive disease characterized by osteoclast malfunction. Decreased osteoclast-mediated bone resorption may be inadequate to maintain a normal serum calcium-phosphorus balance in the extracellular fluid. Consequently, despite markedly positive total body calcium balance, patients with osteopetrosis paradoxically could develop rickets. The concurrence of osteopetrosis and rickets has been termed "osteopetrorickets". We report here a 3-month-old boy who was diagnosed with osteopetrorickets with clinical features. Although osteopetrorickets is defined as a rare paradoxical feature of infantile malignant osteopetrosis in some studies, it seems to be more common than was previously known. Coexistence of rickets and osteopetrosis may have adverse effects on clinical response to stem cell transplantation. Therefore, a diagnosis of rickets must be considered in patients with osteopetrosis and then for better results, prior to the SCT, the rickets should be completely treated.     

Protective effect of sulfhydryl-containing antioxidants against ischemia/reperfusion injury of prepubertal rat intestine

Background and Aim:  Reactive oxygen species generated during reperfusion of the tissue are known to play an important role in the basic pathophysiology of ischemia/reperfusion (I/R) injury. The aim of this study was to investigate and compare the protective effects of three sulfide-based antioxidants, N -acetylcysteine (NAC), erdosteine (ERD), and α-lipoic acid (LA), on I/R injury of the small intestine tissue.
Methods:  Forty male Sprague–Dawley rats weighing between 100–150 g were divided into five groups ( n  = 8 for each): control (sham operated), I/R, I/R + NAC, I/R + ERD, and I/R + LA. Intestinal ischemia was provided by occluding the superior mesenteric artery via a special microvascular clamp; ischemia for 30 min and reperfusion for 3 days were carried out. Ileal specimens were obtained to determine the tissue levels of malondialdehyde (MDA), protein carbonyl contents (PCO), superoxide dismutase (SOD), and glutathione peroxidase (GPx) activities and histological changes.
Results:  The rats subjected to intestinal I/R exhibited an increase in tissue MDA and PCO; the levels could hardly be ameliorated in the treatment groups. SOD and GPx activities were significantly decreased in the I/R group, whereas their reduction was less expressed in the treatment groups. Additionally, the histopathological injury scores of the disulfide-treated groups were lower than those of the I/R group.
Conclusion:  All of the sulfhydryl-containing antioxidants used in this study exhibited a significant role in attenuating intestinal I/R injury; however, the outcome of the LA-treated group was significantly marked than that of the others.     

The relationship between T-wave polarity and clinical as well as angiographic findings in the early stage of acute myocardial infarction

BACKGROUND: Restoration of a positive T-wave in the chronic stage of myocardial infarction (MI) is usually seen in patients with a non-Q-wave (non-transmural) MI, where a viable tissue is present. The causes and significance of a positive T-wave in the early phase of acute MI are not clear. AIM: To investigate angiographic and clinical characteristics of patients with a positive T-wave in the early stage of acute MI. METHODS: We evaluated the clinical and angiographic data in relation to T-wave polarity in 188 patients with acute MI. Coronary risk factors, pre-infarction angina, CK-MB level, left ventricular ejection fraction and angiographic findings were analysed. Death, cardiogenic shock, ventricular tachycardia/fibrillation and high-degree atrioventricular block were regarded as in-hospital complications. All electrocardiograms were divided into two groups, according to the shape of the T-wave, as exhibiting a positive T-wave or negative T-wave. RESULTS: A positive T-wave was present in 30 (15.9%) patients. None of the patients with a positive T-wave had three-vessel disease compared with 21.5% of patients with a negative T-wave (p <0.04). In-hospital complication rates were similar in both groups. CONCLUSIONS: Patients with a positive T-wave in the early phase of acute MI have significantly less frequently three-vessel disease than patients with a negative T-wave.     

The first Susac's syndrome case in Turkey

Susac's syndrome is a vasospastic disease resulting from bilateral microangiopathy of the brain, cochlea and retina. It is characterized by encephalopathy, bilateral sensorineural fluctuating hearing loss and visual loss. It is very uncommon and usually affects women during young adulthood. Since all three symptoms of the triad may not be present, the clinical diagnosis is difficult. Therefore, neuroimaging, particularly magnetic resonance imaging, has an important role in establishing the diagnosis. In this case report, we present a young woman who had all the symptoms of Susac's syndrome. This is the first Susac's syndrome case reported in Turkey.     

Comparison of the approaches to non-febrile neutropenia developing in children with acute lymphoblastic leukemia

The objectives of this study was to investigate of the influences of high-dose (20 mg/kg/day) methyl prednisolone (HDMP) and granulocyte colony stimulating factor (G-CSF) in shortening the duration of chemotherapy-induced neutropenia encountered in children with ALL receiving maintenance therapy. Sixty-four non-febrile neutropenic attacks developed in 29 patients with ALL receiving St Jude XIII maintenance protocol were evaluated retrospectively. The patients were clinically followed up without drugs for shortening the duration of neutropenia in 21 (32.8%) attacs, while HDMP and G-CSF were administered in 26 (40.6%) and 17 (26.6%) attacks, respectively. After the detection of neutropenia, restoration of neutrophil counts at 2nd or 4th days to the levels that allow resuming the chemotherapy were considered as success. While second day and overall success rates in patients administered HDMP and G-CSF were significantly higher than the patients who were observed clinically. Both second day and overall neutrophil counts were significantly higher in patients administered G-CSF than the other groups. Methyl prednisolone and G-CSF treatments were well-tolerated by the patients. The cost-per neutropenic attack was significantly higher in G-CSF group than of the HDMP group. Especially in patients experiencing frequent neutropenic attacks and hence interruptions of the therapy, one of the myelopoiesis induction therapies can be used to shorten the duration of neutropenia. For this indication short-course HDMP therapy can be considered as an alternative to G-CSF in this patients due to its relatively low cost, amenability to outpatient administration, and well-tolerability by children.     

Treatment of Clubfoot With Ponseti Method Using Semirigid Synthetic Softcast

Randomized controlled clinical trial.The main purpose of the present study was to comparatively analyze the effectiveness, advantages, and the complications of using semirigid synthetic softcast with respect to plaster of Paris (POP) during the treatment of clubfoot deformity.The study group consisted of 196 babies (249 feet). A total of 133 feet treated by an orthopedic referral center using semirigid synthetic softcast were included in group A whereas the other 116 feet treated by another orthopedic clinic using POP cast were included in group B. The Pirani scores, number of cast applications, time period until Achilles tenotomy, any skin problems due to the cast itself, and/or cast removal were recorded. A final parent satisfaction score was also obtained.The mean Pirani sores were significantly improved from the first administration to the time before Achilles tenotomy in both groups. There was no significant difference according to the number of casts applied until tenotomy. The slippage of the cast and skin lesions was significantly more common in group B. Higher parent satisfaction levels were detected in group A.Semirigid softcast has been found as superior to POP in the aspects of parent satisfaction and cast-related complication rates.     

Pulmonary Resection in the Treatment of Life-Threatening Hemoptysis

Purpose: Massive hemoptysis is a life threatening situation with high mortality rates. Surgery is effective, however generally an avoided treatment. We report our experience with patients undergoing lung resection for life-threatening hemoptysis.Methods: Records of all surgically treated patients for hemoptysis between June 2009 and June 2012 were reviewed and analyzed retrospectively.Results: Anatomical resection was performed on 31 (15.3%) patients out of 203 patients referred to our intensive care unit for life-threatening hemoptysis. 25 (80.6%) were male and six (19.4%) were female; with mean age of 46.4 ± 13.7 (21–77). Pneumonectomy was performed in four (12.9%), lobectomy in 24 (77.4%), segmentectomy in two (6.5%) and bilobectomy in one case. Postoperative complications developed in eight (25.8%), and mortality was observed in two (6.5%) patients. Etiology was bronchiectasis in 13 (42.0%), tuberculosis in eight (25.8%), carcinoma in four (12.9%), aspergilloma in four (12.9%), hydatid cyst in one (3.2%) and lung abscess in one (3.2%) of the cases.Conclusions: Although lung resection in the treatment of massive hemoptysis is accompanied with high morbidity and mortality rates, surgery is the only permanent curative modality. Acceptable results can be achived in the company of a multidisciplinary approach, through avoidance of pneumonectomy and urgent surgery.     

Effects of stem cell transplantation on bone mineral density and vitamin D status in children with thalassemia major

HSCT is a curative treatment in TM, but conditioning and immunosuppressive treatment may affect bone metabolism. In this retrospective study, we aimed to compare BMD, vitamin D status, and growth in children with TM who underwent HSCT to those in children with TD TM. Twenty‐three children with TM who underwent HSCT (mean age 7.1 years [1.03‐14.7]) and 24 children with TD thalassemia (mean age 9.8 years [1.6‐14]) were recruited. Lumbar spine BMD of TD thalassemia patients was higher than those in patients who had HSCT at both baseline and second‐year assessments (P=.009, P<.001, respectively). However, BMD Z scores or serum 25‐OH vitamin D levels were not different in two groups. Being >10 years of age was a significant risk factor for low BMD, height, and weight Z score for both groups. Patients who underwent HSCT with Pesaro risk class II or III had higher risk for low BMD compared to those risk class I patients (P=.044). In conclusion, children with TM who were >10 years at HSCT are at risk for low BMD and growth retardation. HSCT had no effect on BMD deficit in children with TM.     

Flow diverter stents in the treatment of recanalized intracranial aneurysms

BackgroundWe assessed the safety and efficacy of flow diverter stents (FDSs) in the treatment of recanalized or residual intracranial aneurysms treated endovascularly.Materials & MethodsPatients whose recanalized or residual aneurysms were treated with FDSs in five tertiary hospitals were reviewed retrospectively. The patients’ demographic data, aneurysm characteristics, types of previous treatment, and clinical complications, or serious adverse events associated with FDSs, as well as the results of neurological and angiographic follow-up assessments, were recorded.ResultsEighty-six patients (37 males) with 87 aneurysms were included in this study. Eighty (91.9%) aneurysms were in the anterior and seven (8.1%) in the posterior circulation. The initial treatment methods were the primary coiling or balloon remodeling technique in 69 (79.3%) and stent-assisted coiling in 18 (20.7%) aneurysms. The endovascular procedure was successful in all patients. Complications occurred in four patients, for a total complication rate of 4.6%. A technical complication developed in one patient (1.2%). An in-stent thrombosis treated with tirofiban was seen in two cases. Late in-stent stenosis exceeding 50% was treated with balloon angioplasty in one patient. The mean length of follow-up was 21.0 months. The first angiographic follow-up (3–6 months) revealed the complete occlusion of 74 aneurysms (85.1%). While 76 aneurysms (87.4%) were occluded at the last angiographic follow-up (mean: 26.0 months), 11 aneurysms (12.6%) were still filling. Morbimortality was zero.ConclusionThe drawback of endovascular treatment is aneurysmal remnants or recurrences, which is safely and durably amenable to flow diversion.