Infantile osteopetrosis with superimposed rickets

Background

Rickets is a complication of infantile osteopetrosis and pre-treatment recognition of this complication is important.

Objective

To describe four children with infantile osteopetrosis complicated by rickets (osteopetrorickets) and review the relevant literature.

Materials and methods

Retrospective chart analysis of four infants with osteopetrorickets and a systematic review of the relevant literature.

Results

We saw five children with infantile osteopetrosis, of whom four had superimposed rickets, for a period of 12 years. The review of the literature (including the current four children), yielded 20 children with infantile osteopetrorickets. The children ranged in age from 2 months to 12 months. In all children, hepatosplenomegaly was found. Sixteen (80%) children had visual impairments and eight (40%) children had hearing impairments. Serum calcium-phosphorus product was less than 30 in 18 children (90%). Twelve children (60%) were hypocalcemic and 18 (90%) were hypophosphatemic. In all children, the radiological examination demonstrated diffuse bony sclerosis and metaphyseal splaying and fraying of long bones. Five children (25%) had pathological fracture of extremities and 15 (75%) had rachitic rosary.

Conclusion

Rickets as a complication to infantile osteopetrosis is not uncommon. Skeletal roentgenograms are of critical importance in the diagnosis of both osteopetrosis and superimposed rickets.     

Periodontal status in two siblings with severe congenital neutropenia: diagnosis and mutational analysis of the cases

BACKGROUND: Severe congenital neutropenia (SCN), also known as Kostmann syndrome, was originally reported as an autosomal recessive disease of neutrophil production. The disease is characterized by a maturation arrest of neutrophil precursors at the promyelocytic stage of differentiation and by extremely low levels of mature neutrophils in peripheral blood. METHODS: A 6-year-old male presented with a complaint of gingival swelling and bleeding, and swelling at the left side of his face. Upon clinical examination, severe inflammation of all gingival tissues was apparent, and a periapical abscess with mobility was noted on the left mandibular second molar. Medical and dental histories revealed numerous recurrent bacterial infections associated with oral and non-oral tissues. His medical history with recurrent infections led us to evaluate his 3-year-old sister to determine the status of her oral health. Inflammation of her oral tissues and recurrent bacterial infections were apparent. Their consanguineous parents were in good health. To assist in identifying possible systemic diseases underlying the inflammatory situation in the siblings, consultations were requested from the Pediatric Hematology Department at Selcuk University and Pediatric Oncology Department at Gulhane Military Medical Academy. RESULTS: Based on absolute neutrophil count (< or =200/mm(3)) and bone marrow aspiration findings consistent with early maturation arrest in myelopoiesis, the cases were diagnosed as SCN. No chromosomal abnormality was detected upon cytogenetic examination. Sequencing analysis also revealed no mutation in the neutrophil elastase or growth factor independent-1 (GFI-1) genes in these patients. Severe periodontal disease, attachment loss, and mobility for over 50% of the deciduous teeth were noted. Within 6 months, the male sibling lost all of his deciduous teeth due to periapical and periodontal infections. His sister presented with tooth mobility for all mandibular incisors. Monthly visits, including scaling, polishing, and 0.2% chlorhexidine digluconate irrigation were performed to support their oral hygiene and to avoid recurrent oral infections. We have been able to stabilize these patients' periodontal conditions during a 2-year follow-up period. CONCLUSION: This case report emphasizes the role of periodontists and pediatric dentists in the diagnosis of diseases linked with neutrophil and other systemic disorders and highlights the need to optimize the health of oral tissues with regular appointments.     

Lymphovascular space involvement is the sole independent predictor of lymph node metastasis in clinical early stage endometrial cancer

Purpose

To determine clinicopathological risk factors associated with lymph node metastasis in endometrial cancer (EC).

Methods

Clinicopathological data of patients who underwent comprehensive surgical staging for clinical early stage EC between 2001 and 2010 at Hacettepe University Hospital was retrospectively reviewed.

Results

Two hundred and sixty-one patients were included. There were 26 patients (10.0 %) with lymph node metastasis. Of these, 14 (5.4 %) had pelvic lymph node metastasis, 8 (3.1 %) had both pelvic and paraaortic lymph node metastasis, and 4 (1.5 %) had isolated paraaortic metastasis. Univariate analysis revealed tumor size >2 cm, type II cancer, grade III histology, cervical stromal invasion, deep myometrial invasion, positive peritoneal cytology, adnexal involvement, serosal involvement, and presence of lymphovascular space involvement (LVSI) as significant clinicopathological factors associated with retroperitoneal lymph node metastasis. For paraaortic metastasis either isolated or with pelvic lymph node metastasis, significant factors were grade III disease, cervical stromal invasion, deep myometrial invasion, positive peritoneal cytology, adnexal involvement, serosal involvement, pelvic lymph node metastasis, and presence of LVSI. The only factor associated with isolated paraaortic lymph node metastasis was LVSI. Multivariate analysis revealed LVSI as the only independent factor for both retroperitoneal and paraaortic lymph node metastasis (odds ratio 14.9; 95 % confidence interval 3.8–59.0; p < 0.001, and odds ratio 20.9; 95 % confidence interval 1.9–69.9; p = 0.013, respectively).

Conclusion

Lymphovascular space involvement is the sole predictor of lymph node metastasis in EC. Therefore, LVSI status should be requested from the pathologist during frozen examination whenever possible to consider when a decision to perform or omit lymphadenectomy is made.     

Short-term results of Neurelec Digisonic SP cochlear implantation in prelingually deafened children

This paper examines the reports on the selection criteria and the post-operative performance of 25 children implanted with the Neurelec Digisonic SP. This study reported benefits from Neurelec Digisonic SP cochlear implant in auditory and speech perception outcomes. There has been a lack of studies into the additional factors such as level of the mothers’ education and bilingualism, which is a factor that may have a significant effect on the success of cochlear implantation. This paper examines the reports on the reasons for the differences in performance and the post-operative performance of 25 children implanted with the Neurelec Digisonic SP. Meaningful Auditory Integration Scale and Meaningful Use of Speech Scale questionnaires were used just before 3, 6, 12, and 18 months following implantation. Electrode array was inserted without difficulty in all cases, with no complications to date. This is a retrospective and cross-sectional study and all the data were collected between March 2010 and December 2012. Auditory performance improved over time for up to 12 months after implantation. Our experience indicates that the Neurelec Digisonic SP cochlear implant system in children under the age of two is relatively safe and reliable. The Neurelec Digisonic SP device surgery can be performed without complications. Auditory performance results support the effectiveness of early implantation. These important findings further support the importance of professionals working very closely with parents or especially mothers and enhancing their involvement in achieving therapy goals to develop auditory skills and speech in young children following cochlear implantation.     

Níveis de Tiol Sérico e Homeostase Tiol/Dissulfeto em Pacientes com Doença Valvar Mitral Reumatismal e em Sujeitos Saudáveis

BackgroundRheumatic mitral valve disease (RMVD) is the most common presentation of rheumatic heart disease (RHD). Inflammation and fibrosis processes also play significant roles in its pathogenesis. Recent studies showed that thiols and thiol-disulfide are promising novel oxidative stress markers.ObjectivesThe present study aimed to evaluate differences in the serum thiol and thiol-disulfide levels in patients with RMVD and the control group.MethodsNinety-two patients with RMVD were enrolled in the study. Fifty-four healthy subjects, age, and gender-matched with the study group, were also included in the study as a control group. This study investigated thiol levels in patients with RMVD and the control group. P-values lower than 0.05 were considered statistically significant.ResultsThe patients with RMVD presented higher systolic pulmonary artery pressure (SPAP) and left atrial (LA) diameter levels than the control group. Native thiol (407±83 μmol/L vs. 297±65 μmol/L, p<0.001) and total thiol (442±82 μmol/L vs. 329±65 μmol/L, p<0.001) levels were higher in the control group. Disulfide (16.7±4.9 μmol/L vs. 14.8±3.7 μmol/L, p=0.011) levels were higher in the group of patients with RMVD. A positive correlation was found between disulfide/native and disulfide/total thiols ratio with SPAP, LA diameter, and MS severity. Disulfide/total thiols ratio was significantly higher in patients with severe MS than with mild to moderate MS patients.ConclusionsTo the best of our knowledge, this is the only study of its kind that has evaluated thiol/disulfide homeostasis as a novel predictor, which was more closely related to RMVD and the severity of MS.     

Serum Ischemia‐modified Albumin Levels in an Experimental Acute Mesenteric Ischemia Model

Objectives: This experimental study aimed to assess the changes in the levels of serum ischemia‐modified albumin (IMA) and interleukin‐6 (IL‐6) by time in cases of acute mesenteric ischemia due to superior mesenteric artery occlusion. Methods: Twenty‐one New Zealand rabbits were randomly divided into three groups. Blood samples were collected at hours 0, 1, 3, and 6 from animals in a control group; a sham group following a simple laparotomy; and in an ischemia group following superior mesenteric artery ligation. All blood samples were analyzed for serum IMA and IL‐6 levels, and then the time‐dependent changes of biomarkers were investigated. Results: The serum IMA levels of the ischemia group at hours 3 and 6 were significantly higher than those of the control and sham groups (hour 3, p = 0.017; hour 6, p = 0.001). The increase in serum IL‐6 levels in the ischemia group at hours 1, 3, and 6 compared to the control and sham groups was also significant (hour 1, p = 0.002; hour 3, p = 0.003; hour 6, p = 0.003). Conclusions: IMA may be helpful as a marker in the diagnosis of acute mesenteric ischemia; however, its diagnostic value and use as a routine biochemical test should be assessed in further studies. ACADEMIC EMERGENCY MEDICINE 2010; 17:1233–1238 © 2010 by the Society for Academic Emergency Medicine     

Predictors of ventricular arrhythmias in patients with mitral valve prolapse

Arrhythmias have been reported to occur frequently in symptomatic patients with mitral valve prolapse (MVP). The mechanisms causing ventricular arrhythmias in patients with MVP have not been fully investigated. The purpose of this study was to determine the clinical, echocardiographic and heart rate variability parameters, and plasma concentrations of electrolytes and inflammatory markers in predicting ventricular arrhythmias in patients with MVP. A total of 58 consecutive patients with MVP were included in this study. We performed electrocardiography, echocardiography, holter analysis, routine biochemical tests including plasma concentrations of electrolytes and inflammatory markers, and evaluated the clinical characteristics. Ventricular arrhythmia defined as occurrence of any of the followings: ventricular premature contractions (VPCs), VPC couplets, and ventricular tachycardia documented by holter analysis, continuous monitoring or by electrocardiography. Twenty patients (34%) had ventricular arrhythmias, and 38 (66%) patients had no ventricular arrhythmias. Seventeen patients had VPC, 2 patients had VPC couplets and 1 patient had ventricular tachycardia. Univariable predictors of ventricular arrhythmias included isovolumetric relaxation time and the occurrence of moderate to severe mitral regurgitation. Multivariable logistic regression analysis showed that occurrence of moderate to severe mitral regurgitation was the only independent predictor of ventricular arrhythmias (relative risk: 8.42, 95% confidence interval: 1.49–47.64, p = 0.01). Present study showed that the only independent predictor of ventricular arrhythmias in patients with MVP is the occurrence of moderate to severe mitral regurgitation.     

The role of allergy in the severity of nasal polyposis

BACKGROUND: Although patients with nasal polyposis frequently exhibit concomitant allergy, there is limited information about the impact of allergy on the severity of nasal polyposis. The goal of this study was to evaluate the role of allergy in the severity of nasal polyposis. METHODS: Polyp sizes, computed tomography (CT) scores, skin-prick test results, blood total eosinophil count, serum levels of total immunoglobulin E, symptom scores, and recurrences were analyzed in 83 patients with nasal polyposis. The results were compared between allergic and nonallergic patients with nasal polyposis. RESULTS: No association was found between the presence of allergy per skin-prick testing and polyp size, CT opacification, symptom scores, or recurrences (p > 0.05). In allergic patients, only the serum total eosinophil count correlated strongly with the results of CT (p = 0.005) but not with other parameters (p > 0.05). CONCLUSIONS: The results of this study show that, although patients with nasal polyposis frequently have allergies, the presence of allergy does not correlate with polyp size, symptom scores or rate of recurrence.