22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin

Previous studies have indicated a wide spectrum of incidences of 22q11.2 deletions in isolated and syndromic (sporadic or familial) cases of conotruncal heart defects, whereby the detection rate of the deletion varied from 65% in one study to 0 in another. We analysed 110 patients with non-selective syndromic or isolated non-familial congenital heart malformations by fluorescence in situ hybridization (FISH) using the D22S75 DiGeorge chromosome (DGS) region probe. A 22q11.2 microdeletion has been detected in 9/51 (17.6%) syndromic patients. Five were of maternal origin and four of paternal origin. None of the 59 patients with isolated congenital cardiac defect had a 22q11.2 deletion. We compared the cardiac anomalies of our patients with a 22q11.2 deletion with those of previously published series and we describe types of congenital heart defects which appear to be often associated with a 22q11.2 deletion. The ability to detect such types of heart defects and to provide an early diagnosis of 22q11.2 deletion is particularly relevant in very young infants, who often show only very mild expression of the otherwise well-characterized phenotypes of the DiGeorge/velo–cardio–facial syndrome (DG/VCFS).     

Interferon alpha monotherapy for chronic hepatitis C viral infection in thalassemics and hemodialysis patients

We assessed the effectiveness of interferon (IFN) monotherapy in thalassemic or hemodialysis patients with chronic hepatitis C viral (HCV) infection. Ten thalassemic and four hemodialysis patients were included in the study. Chronic HCV was confirmed with both serum HCV-RNA and liver histopathology. IFN alpha-2a was administered three times a week for 24-48 weeks, at a dose of 5 MU/m2 (maximum 6 million units). Sustained response was defined as negative HCV-RNA at least 24 weeks after termination of the treatment. All patients completed the study. Eight of 10 thalassemic (80%) and one of four hemodialysis patients (25%) showed a sustained response. IFN monotherapy proved to be an effective treatment, especially in thalassemic patients with chronic HCV. IFN monotherapy seems reasonable for patients with thalassemia and chronic hepatitis C virus in whom ribavirin cannot be used.     

An unusual case of cervical clear-cell meningioma in pediatric age

Introduction and background A 4-year-old girl was admitted with complaints of diplegia, right lower limb monoplegia, and left lower limb monoparesia. Cervical magnetic resonance imaging revealed an intradural-extramedullary tumor at the level of C1–C2. The tumor was resected totally. Histopathologic diagnosis revealed clear-cell meningioma. Discussion Intraspinal clear-cell meningioma (ICCM) is a rare aggressive variant of meningioma. There are only 25 cases reported to date, and only 13 of them are in pediatric age group. Of these 25 ICCM cases, only two are at cervical region. This report is the first ICCM case at upper cervical region (C1–C2) in both adult and pediatric age populations.     

Radiotherapy in the combined therapy of limited stage pulmonary microcytoma. The experience of the Department of Oncologic Therapy at the Multiregional Hospital of Varese (1980-1989)]

From January 1980 to December 1989, 86 patients with limited small cell lung carcinoma (SCLC) were treated in our Institution. Sixty-eight of them were males, 18 females; mean age was 58 years (range: 40-74); Karnofsky index was 80 or higher. All patients received induction multiagent chemotherapy (CAV or CAVE), usually fractionated into 3/4 cycles. Radiotherapy was administered by means of a 10 MV Linear Accelerator, 2-3 Gy/day, 5 days/week. Radiation dose was 60 Gy for 39 patients, 50 Gy for 25 patients, and 30 Gy for 22 patients. Parallel opposed fields (AP and PA) were used for administering the 30-Gy dose, while higher doses were delivered by multiportal arrangement (3/4 fields). Overall survival (corrected Kaplan-Meier) was 21.3% and 13.4% at 2 and 3 years, respectively; 2 years' survival according to dose was 24.5% for 60 Gy, 19.9% and 11% for 50 and 30 Gy, respectively. Mean survival time (MST) was 14 months for 60 Gy, 13 months and 10 months, respectively, for 50 and 30 Gy. Survival and disease-free survival rates were similar in patients who received 50 and 60 Gy. No major complications related to irradiation were observed, not even in the group receiving the highest dose. Our data are similar to those reported in the literature.     

Evaluation of a Western blot technique (Helicoblot 2.1) for the diagnosis of Helicobacter pylori infection in children

AIM: We evaluated the performance of Helicoblot 2.1 which differentiates the reactivity to each of the various Helicobacter pylori antigens, and compared the results with those obtained by standard techniques (rapid urease test and histological examination of gastric biopsy) in symptomatic children of different ages living in Antalya, Turkey. METHODS: Eighty-eight children (mean age, 9.15 years) were divided into two groups. The first group included 66 children who were found to be infected with H. pylori. The second group included 22 children who were negative for H. pylori. Serum samples collected from all patients were tested for H. pylori IgG antibodies by immunoblot assay (Helicoblot 2.1). RESULTS: The sensitivity, specificity, positive and negative predictive values for detection of H. pylori infection were 80%, 100%, 100% and 85%, respectively. In children under 7 years of age, the sensitivity of the test was found to be lower than other age groups (P<0.05). No relationship was found between peptic ulcer and cagA antibody positivity (P>0.05). CONCLUSION: Helicoblot 2.1 is a useful non-invasive diagnostic tool for H. pylori infection in children over 6 years of age.     

Association of estrogen receptor alpha and collagen type I alpha 1 gene polymorphisms with bone mineral density in postmenopausal women

Summary  

In this study, ERα gene PvuII and XbaI polymorphisms and COL1A1 gene Sp1 polymorphisms in postmenopausal women were compared with lumbar vertebra and femoral neck BMD values. In conclusion, it was designated that PvuII polymorphism was effective on average lumbar vertebra BMD value in postmenopausal women of our study group.     

Serum Ferritin,Vitamin B<Subscript>12</Subscript>, Folate,and Zinc Levels in Children Infected with <Emphasis Type="Italic">Helicobacter pylori</Emphasis>

We sought to explore the relationship between Helicobacter pylori infection and serum ferritin, vitamin B₁₂, folate, and zinc status among children. Fifty patients aged 5–18 years who underwent upper gastrointestinal endoscopy because of dyspeptic symptoms, were studied, prospectively. Patients were grouped as H. pylori positive (group 1, n=32) or H. pylori negative (group 2, n=18) by histopathologic examination and rapid urease test. Fasting serum ferritin, vitamin B₁₂, folate, and zinc levels of patients were measured. Both groups were indifferent according to age, gender, height standard deviation score (H_SDS), and weight standard deviation score (W_SDS). Serum ferritin levels were 33±26 and 50±46 ng/mL (P=.098), vitamin B₁₂ levels were 303±135 and 393±166 pg/mL (P=.042), folate levels were 9.64±3.2 and 9.61±2.8 ng/mL (P=.979), and zinc levels were 95±48 and 87±31 μg/dL (P=.538), in groups 1 and 2, respectively. Ferritin levels of 14 (43.8%) patients in group 1 and 6 (33.3%) patients in group 2 were below the normal range (P=.470). Serum vitamin B₁₂ levels of 9 children (28%) in group 1 and 2 children (11%) in group 2 were below the normal range (P=.287). The findings of the present study suggest that H. pylori infection has a negative effect on serum ferritin and vitamin B₁₂ levels in children. This negative effect on vitamin B₁₂ levels is rather marked in contrast to that on ferritin levels. H. pylori infection has no significant effect on serum folate or zinc levels among children.     

NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly

NudE Neurodevelopment Protein 1 (NDE1) gene encodes a protein required for microtubule organization, mitosis, and neuronal migration. Biallelic pathogenic variants of NDE1 gene are associated with structural central nervous system abnormalities, specifically microlissencephaly and microhydranencephaly. The root of these different phenotypes remains unclear. Here, we report a 20-year-old male patient referred to our clinics due to severe microcephaly, developmental delay, spastic quadriplegia, and dysmorphic features. The cranial computed tomography revealed abnormal brain structure and excess of cerebrospinal fluid, consistent with microhydranencephaly. A homozygous c.684_685del, p.(Pro229TrpfsTer85) change in NDE1 gene was found by clinical exome analysis. The variant has previously been reported in individuals with microlissencephaly, therefore we propose that the same variant within the gene may cause either microlissencephaly or microhydranencephaly phenotypes. There are only a few papers about NDE1-related disorders in the literature and the patient we described is important to clarify the phenotypic spectrum of the disease.