Congenital muscular torticollis: evaluation and classification

In this investigation of congenital muscular torticollis, 311 infants treated consecutively for congenital torticollis over an 8-year period (1995-2003) at the Pediatric Neurology Clinic of Istanbul Medical Faculty, Istanbul University, Turkey were reviewed retrospectively. The clinical presentation, associated abnormalities, treatment, and outcomes of the overall group and of subgroups divided according to an ultrasonography-based classification were evaluated. All patients were evaluated using a standard approach: cervical ultrasonography was performed, and the patients were divided into two subgroups. Each group was scanned for other anomalies, and outcomes were compared. The mean age at diagnosis was 2.3 months; patients included in this study were 138 males and 173 females. Two clinical subgroups, comprised of sternomastoid tumors 85% and postural torticollis 15%, were identified. Passive range of motion was the initial treatment recommended for all of the patients. Follow-up data were available for all 311 patients; 95% experienced total resolution and 5% experienced subtotal resolution. We conclude that the majority of children with congenital muscular torticollis experience total resolution of symptoms. The success rate of conservative treatment is primarily dependent on the patients' age at the initiation of exercises and ultrasonographic findings.     

Magnetic resonance imaging of vulvar dermatofibrosarcoma protuberans – report of a case

Background

Dermatofibrosarcoma protuberans (DFSP) of the vulva is a rare low-grade soft tissue sarcoma. Magnetic resonance imaging (MRI) findings of vulvar DFSP were essentially unreported in the literature.

Case report

We report a DFSP of vulva with its clinical, histological and MRI features. As far we know this is the first case of histologically confirmed vulvar DFSP presenting with MR images. The diagnosis of DFSP is usually made by histopathologic and clinical findings.

Conclusions

MRI is useful both for the diagnosis of DFSP and following up the patients since it has high soft tissue resolution and no risk of radiation exposure. With MRI the relation to the adjacent anatomical structures, extension and depth of the tumour and possible lymph node involvement can also be demonstrated.     

Lens and cornea lesions of rats fed corn syrup and the protective effects of alpha lipoic acid

Objective: To examine the pathological findings that occurred in the lens and cornea and biochemical findings in the lens of rats fed with corn syrup and the protective effects of alpha lipoic acid (ALA).

Materials and methods: Twenty-four rats were randomly divided into three groups. Group I served as the control group. Group II was used as the study group; the rats were treated with 30% corn sugar solution for 10 weeks. Group III was the treatment group. Corn syrup was given by the oral route to the rats during the study, and ALA (100?mg/kg) was added to the treatment 4 weeks after the study began. At the end of the experiment, central corneal thickness (CCT) was measured in all rats with an ultrasonic pachymeter. Then the right eyes of the rats were enucleated for histopathological examination of the cornea and lens. The left lenses were homogenized for biochemical analyses.

Results: The lenses of the rats treated with corn syrup revealed severe damage; many lens fibers appeared swollen and ruptured with large vacuoles near the lens epithelium. In addition, malondialdehyde (MDA) levels, a parameter of oxidative stress, increased but not significantly in Group II; however. ALA treatment decreased MDA levels significantly. Antioxidant enzyme and catalase (CAT) activities were significantly decreased in Group II, and ALA treatment increased these activities; however, the increase was not significant. Changes were observed in the cornea such as epithelial alterations, subepithelial vacuolizations, collagen fibers loss in the stromal layer, interruptions in the subepithelial basement membrane and central corneal thickening.

Conclusions: Corn syrup can cause severe damage in rat lenses and corneas. However, ALA ameliorates the effect of corn syrup-related lesions on the cornea and lens.     

Determination of elemental composition of substance lost following wear of all-ceramic materials

PURPOSE: The aim of this study was to test the possible elemental release of four different all-ceramic materials in a wear machine to predict results about their long-term behavior in the oral environment. MATERIALS AND METHODS: Four different all-ceramic materials with different chemical compositions were selected for the wear testing. A total of 20 cylindric samples, five for each ceramic group, were prepared according to the manufacturers' instructions. These were subjected to two-body wear testing in an artificial saliva medium under a covered unit with a computer-operated wear machine. The artificial saliva solutions for each material were analyzed for the determination of amounts of sodium, potassium, calcium, magnesium, and lithium elements released from the glass-ceramic materials. The differences between and within groups were statistically analyzed with a one-way ANOVA, followed by Duncan tests. RESULTS: The statistical analyses revealed no significant differences among Na, K, Ca, or Mg levels (P > .05) released from the leucite-reinforced groups, while there was a significant (P < .05) increase in Li release from the lithium disilicate group. CONCLUSION: Considerable element release to the artifical saliva medium was demonstrated in short-term wear testing. The lithia-based ceramic was more prone to Li release when compared with other elements and materials.     

Involvement of the thyroid and the salivary glands in childhood non-Hodgkin's lymphomas at initial diagnosis

OBJECTIVE: The clinical spectrum of childhood non-Hodgkin's lymphoma (NHL) is different from that in adults, with frequent extranodal involvement. We searched the incidence and radiological appearance of the secondary involvement of the thyroid and salivary glands by ultrasonography (US) to assess its importance for staging of the disease. MATERIALS AND METHODS: We examined the thyroid, parotid and submandibulary glands of 43 children with NHL, age ranging between 9 months and 17 years, by US. RESULTS: According to US findings, involvement of the parotid gland was very common as detected in 18 of the cases with NHL (41%). It was the most common organ involved in lymphoma. Lymphomatous infiltration of the thyroid gland, with bilateral multiple focal lesions, was detected in two patients and proved by fine needle aspiration biopsy in all cases (5%). Salivary gland and thyroid involvement changed staging in three (6%) of the patients, however, the treatment plan was unchanged. CONCLUSIONS: This study shows that anatomic sites, known to be very rarely involved at the initial presentation of the disease is actually more commonly involved in childhood NHL. However, it does not cause any significant change in the treatment planning or in the survival.     

Quantitative detection of RASSF1A DNA promoter methylation in tumors and serum of patients with serous epithelial ovarian cancer

Objective

Detection of cell free tumor-specific DNA methylation has been proposed as a potentially useful noninvasive mechanism to detect malignancies, including ovarian cancer, and to monitor response to treatment. However, there are few easily implemented quantitative approaches available for DNA methylation analysis. Our objectives were to develop an absolute quantitative method for detection of DNA methylation using RASSF1A, a known target of promoter methylation in ovarian cancer, and test the ability to detect RASSF1A methylation in tumors and serum specimens of women with ovarian cancer.

Methods

Bisulfite modified DNAs were subjected to real time PCR using nondiscriminatory PCR primers and a probe with sequence containing a single CpG site, theoretically able to capture the methylation status of that CpG for every allele within a given specimen. Input DNA was normalized to ACTB levels detected simultaneously by assay multiplexing. Methylation levels were established by comparison to results obtained from universally methylated DNA.

Results

The assay was able to detect one methylated RASSF1A allele in 100,000 unmethylated alleles. RASSF1A was methylated in 54 of 106 (51%) invasive serous ovarian cancers analyzed and methylation status was concordant in 20/20 matched preoperative serum-tumor pairs. Serial serum specimens taken over the course of treatment for 8 of 9 patients showed fluctuations in RASSF1A methylation concomitant with disease status.

Conclusions

This novel assay provides a real-time PCR-based method for absolute quantitation of DNA methylation. Our results support feasibility of monitoring RASSF1A methylation from serum samples taken over the course of treatment from women with ovarian cancer.     

Recurrent massive hemoperitoneum due to ovulation as a clinical sign in congenital afibrinogenemia

Massive hemoperitoneum due to ovulation is a rare but serious and life-threatening complication for women with coagulation disorders, and may lead to surgical interventions and even oophorectomy. Congenital afibrinogenemia is an uncommon coagulation disorder usually discovered during childhood. Intraabdominal bleeding due to ovulation is very rare in these patients and only a few cases of corpus luteum rupture and hemoperitoneum in afibrinogenemic patients have been described. In all women, the diagnosis was known since childhood. We report on a 24-year-old woman with congenital afibrinogenemia with recurrent massive intraabdominal bleeding due to ovulation as the presenting clinical sign. Exploratory laparotomy and excision of the ruptured follicle was performed at the first bleeding episode; the second episode was managed with fresh frozen plasma and blood transfusions. Conservative management is crucial for these patients. If surgery cannot be avoided, a conservative surgical approach should be chosen to preserve ovarian function.     

TSR guidelines for the practice of teleradiology: 2021 update

This update of Turkish Society of Radiology’s (TSR) guidelines for the practice of teleradiology is intended to provide a reference framework for all parties involved in delivering imaging services away from the immediate vicinity of the patient. It includes relevant definitions and general principles, features organizational modes and qualifications of the practicing parties, lists technical issues, and addresses such management and legal aspects as archiving and documentation, security and privacy, reliability, responsibilities, quality inspection and improvement, reimbursement and accountability.

Guidelines in the form of standards for the practice of teleradiology in Turkey were first published in 2010 (1). This decennial update was prepared in consideration of the evolving nature of imaging technologies and medical informatics as well as the changing character of the patients’ and public’s demands.These guidelines have been prepared with the aim of providing advice on the appropriate use of teleradiology applications, thereby increasing the impact of their contribution to public health. They comprise recommendations and are not intended to fill legal gaps. They are prepared—and expected to be implemented—with a view to highlighting a patient-oriented and good clinical practice approach. The application of other requirements and prerogatives not defined in these guidelines, specific to any clinical situation, is at the discretion of the responsible physician who performs or oversees the radiological service or renders its interpretation.Provided that they are carried out in accordance with guidelines, teleradiology allows the reporting of radiological examinations in a shorter time, renders this process possible independent of time and place, facilitates easy consultation when necessary, and makes possible continuous training and assessment/appraisal processes. Thanks to teleradiology, users in different locations can view radiological images simultaneously. Teleradiology is a means of maintaining health service without interruption during disasters and other extraordinary circumstances (2–6).The use of teleradiology should not diminish the radiologist’s responsibilities for the supervision and management of the entire process of radiology service, which comprises steps to select the most appropriate examination for the patient, to make the examination at the most appropriate time and with the pertinent protocol, to prepare the patient for the examination, to select and prescribe the appropriate contrast material when its use is beneficial, to perform the examination in a way that minimizes the harm, especially radiation, to the patient and staff, to provide on-site supervision and quality control of the examination, to evaluate the images from the examination in light of clinical and laboratory information and previous examinations, to communicate the imaging findings by preparing a report that includes differential diagnosis and recommendations, and to archive the patient’s radiological images and report with appropriate methods. The radiology report is an intermediate yet integral product of this service. Teleradiology applications should be carried out in a way that ensures the integrity of these steps at the highest possible degree.     

Use of aromatase inhibitors in poor-responder patients receiving GnRH antagonist protocols

The efficacy of aromatase inhibitors incorporated in the ovarian stimulation protocols of poor-responder patients undergoing intracytoplasmic sperm injection-embryo transfer cycles was investigated. A total of 70 poor-responder patients were randomized into two groups on day 3 of their menstrual cycle. In Group A, an aromatase inhibitor (letrozole, 5 mg/day) was administered along with a fixed dosage (450 IU/day) of recombinant FSH (rFSH), whereas Group B were treated with the same rFSH dosage alone. A flexible regimen of gonadotrophin-releasing hormone antagonist was administered in both groups. The mean total dose of rFSH (2980 ± 435 IU versus 3850 ± 580 IU, P < 0.05) and serum concentrations of oestradiol on the day of human chorionic gonadotrophin administration (1870 ± 159 pg/ml versus 2015 ± 175 pg/ml, P < 0.05) were significantly lower in Group A compared with Group B, respectively. The rate of cycle cancellation due to poor ovarian response was lower in Group A (8.6%) than in Group B (28.6%), (P < 0.05). The costs of achieving a clinical pregnancy were US$11560 and US$17584, and the clinical pregnancy rates per embryo transfer were 25.8% and 20%, in groups A and B, respectively. In conclusion, adjunctive letrozole administration seems to restore an IVF cycle by decreasing the rate of cycle cancellation and seems to reduce the cost by reducing the total gonadotrophin dosage.     

Percutaneous Treatment of Pyocystis in Patients with Autosomal Dominant Polycystic Kidney Disease

The course of autosomal dominant polycystic kidney disease (ADPKD) is frequently complicated by infection of a cyst within a polycystic kidney, which is a diagnostic and therapeutic dilemma damaging the clinical course of patients. The aim of this study was to demonstrate the safety and efficacy of percutaneous drainage in management of infected cysts in ADPKD patients. Between May 2003 and December 2006, percutaneous drainage was performed in 16 infected renal cysts of four kidneys in three patients (two females, one male), with a mean age of 57.3 years. Cyst dimensions, total amount of drained cyst fluid, catheterization duration, isolated microorganisms, and follow-up duration were recorded. Technical, clinical success rates were 100%; the complication rate was 0%. Diameters of cysts ranged between 3 and 8 cm. Average volume of drained fluid and average duration of catheterization for one cyst were 226 ml and 9.8 days. No recurrence was encountered but one patient (no. 3), who had pyocystis in the right kidney and was treated with catheterization, referred with left flank pain due to pyocystis in her left kidney 3 months later. Follow-up durations were 35, 47, and 11 months for patients 1, 2, and 3, respectively. For patient 3, follow-up duration for the second procedure was 7 months. We conclude that percutaneous drainage with antibiotic therapy should be the initial method in management of infected cysts in ADPKD patients, with high success and low complication rates.