Etiology and Clinical Presentation of Disorders of Sex Development in Kenyan Children and Adolescents

Objective. )e purpose of this study was to describe baseline data on etiological, clinical, laboratory, and management strategies in Kenyan children and adolescents with Disorders of Sex Development (DSD). Methods. )is retrospective study included patients diagnosed with DSD who presented at ages 0–19 years from January 2008 to December 2015 at the Kenyatta National (KNH) and Gertrude’s Children’s (GCH) Hospitals. After conducting a search in the data registry, a structured data collection sheet was used for collection of demographic and clinical data. Data analysis involved description of the frequency of occurrence of various variables, such as etiologic diagnoses and patient characteristics. Results. Data from the records of 71 children and adolescents were reviewed at KNH (n � 57, 80.3%) and GCH (n � 14, 19.7%). )e mean age at the time of diagnosis was 2.7 years with a median of 3 months. )irty-nine (54.9%) children had karyotype testing done. )e median age (IQR) of children with reported karyotypes and those without was 3.3 years (1.3–8.9) and 8.3 years (3.6–12.1), respectively (p � 0.021). Based on karyotype analysis, 19 (48.7%) of karyotyped children had 46,XY DSD and 18 (46.2%) had 46,XX DSD. )ere were two (5.1%) children with sex chromosome DSD. Among the 71 patients, the most common presumed causes of DSD were ovotesticular DSD (14.1%) and CAH (11.3%). Majority (95.7%) of the patients presented with symptoms of DSD at birth. )e most common presenting symptom was ambiguous genitalia, which

Application of rapid prototyping techniques for modelling of anatomical structures in medical training and education

Rapid prototyping has become an innovative method of fast and cost-effective production of three-dimensional models for manufacturing. Wide access to advanced medical imaging methods allows application of this technique for medical training purposes. This paper presents the feasibility of rapid prototyping technologies: stereolithography, selective laser sintering, fused deposition modelling, and three-dimensional printing for medical education. Rapid prototyping techniques are a promising method for improvement of anatomical education in medical students but also a valuable source of training tools for medical specialists. (Folia Morphol 2011; 70, 1: 1-4

Fatty foci within the heart and the accompanying changes in the coronary arteries diagnosed in electrocardiogram-gated multislice computed tomography of the heart

Background: The purpose of our study was to analyse the relationship between fatty foci within the heart and the accompanying changes in the coronary arteries supplying the relevant heart chambers in a large group of patients referred to multi-slice computed tomography with electrocardiogram-gating examinations (ECG-MSCT) for various clinical reasons. Materials and methods: The ECG-MSCT examinations of 1,830 consecutive patients were analysed. The examinations were performed using 8-row (1,015 patients) and 64-row (815 patients) MSCT, in pre- and postcontrast scanning. In the group of patients with fatty foci within the heart the concomitant changes in the coronary arteries were assessed. It was analysed: the type of changes in the arteries; the relationship between the locations of the fatty deposits and the occurrence and type of changes in the coronary arteries. Results: In 200 (10.9%) subjects fatty foci within the heart (112 men; 88 women; mean age 57.8) were detected. The distribution of the fat was as follows: right ventricle (RV) — 32.5%, left ventricle (LV) — 22.0%, biventricular — 45.5%. One hundred and seventy-two patients had concomitant changes in the coronary arteries. In patients with normal coronary arteries, significantly more often fatty deposits were localised within RV. Fat was primarily located subendocardially in the LV in patients with atherosclerosis in the left anterior descending artery (p < 0.001), in the right coronary artery (RCA) (p = 0.003), and in the left circumflex artery (LCX) (p < 0.001). Subpericardial locations of fatty deposits in RV significantly correlated with RCA bridging (p < 0.02); the subpericardial location of fat in LV significantly correlated with LCX bridging (p = 0.001). Conclusions: Fatty replacement of the myocardium is common, occurring in up to 10% of diagnosed patients and the majority of this group had concomitant changes in the coronary arteries. However, in the group of patients without changes in the coronary arteries, the fatty deposits locate themselves significantly more frequently within the RV

An unusual crossed course of separately originating left circumflex and left anterior descending arteries with concomitant anomalies found in multi-slice computed tomography

Coronary artery anomalies occur in approximately in 1-2% of the population. The split origin of branches of the left coronary artery is a relatively common anomaly, usually with no significant observable impairment of cardiac function. The application of multi-slice computed tomography (MSCT) for cardiac imaging is increasing and becoming, along with other techniques, a recognised method of examination of the coronary arteries. In the case presented we observed in an ECG-gated MSCT the anomalous origin and proximal course of the arteries of the left sinus of Valsalva. The ostiae of both coronary arteries were located unusually: the ostium of the LAD was found posterior to the ostium of the LCx. Because of this, the proximal part of the LAD crossed the proximal part of the LCx superiorly. Furthermore, muscular bridges were found in the middle part and in the first diameter branch of the LAD. To our knowledge, this is the first case of a crossed course of the LCx and the LAD to be presented in the literature. Applications of MSCT in coronary imaging are presented in comparison with other diagnostic imaging methods. The advantages and limitations of MSCT as a diagnostic tool for anomalies of the coronary arteries are discussed

ECG-gated multi-slice computed tomography in the detection of atrial septal aneurysms

An atrial septal aneurysm (ASA) is an uncommon cardiac abnormality. Clinical manifestation of this abnormality remains unclear: some authors have suggested an association between ASA and arrhythmias or between ASA and cerebral ischaemia. A major role in the diagnosis of ASA to date has been played by transoesophageal echocardiography and transthoracic echocardiography. The purpose of this paper is to present the role of multi-slice computed tomography with ECG gating in the detection and analysis of ASA. (Folia Morphol 2008; 67: 126–128

Bilateral double-layered patella in a patient with advanced knee osteoarthritis

Double layered patella (DLP) is a rare anomaly of the patella that may go undiagnosed, especially in patients with progressive knee dysfunction and early degenerative changes. Clinical symptoms such as motion-dependent pain and anterior knee pain most typically occur in adolescents or young adults; however, gradually increasing pain and early generalised degenerative changes have also been seen in patients over 40 years old. Diagnosis of DLP could be difficult, especially in cases with coexisting arthrosis. DLP is considered to be pathognomonic for the diagnosis of multiple epiphyseal dysplasia and usually coexists with other anomalies seen in this syndrome, such as hip dysplasia. In extremely rare cases, DLP can occur as a solitary disorder. The prevalence of such cases, however, is unknown, and they could be easily misdiagnosed. Computed tomography and magnetic resonance imaging are the most sensitive radiological methods used in DLP diagnosis. This case report presents a case of a bilateral DLP incidentally found in a 47-year-old patient with advanced arthritis referred for arthroplasty because of increasing symptoms of knee joint failure with no other abnormalities recorded. An important goal of our case study is to raise the awareness of this abnormality with radiologists and orthopaedic surgeons

Quadricuspid pulmonary valve complicated with aneurysm of pulmonary trunk diagnosed with ECG-gated computed tomography

Quadricuspid pulmonary valve (QPV) is an uncommon congenital defect reported in the general population with a frequency of up to 0.25%. The defect usually does not cause severe clinical complications and its presence frequently remains clinically silent. Moreover, there are several difficulties in visualization of pulmonary valve using basic diagnostic modalities such as echocardiography. Therefore, in the majority of cases, QPV is detected accidentally during cardiac procedures or post mortem. The authors present a case of QPV complicated with aneurysm of the pulmonary trunk, diagnosed with computed tomography in 70-year-old woman. Although the patient had undergone transthoracic echocardiography examinations several times in the past, only computed tomography allowed the detection of the anomalous valve. In addition, the examination confirmed aneurysm of the pulmonary trunk. To the best of our knowledge, this is the first case of QPV diagnosed in vivo with computed tomography

Supernumerary renal vessels: analysis of frequency and configuration in 996 computed tomography studies

Background: Number, course and division pattern of renal vessels is highly variable. Variant renal vasculature is of high interest in nephrectomy for the renal transplantations, both in deceased and living donors. The purpose of the study was to analyse the frequency of supernumerary renal vessels in a large cohort of patients undergoing the multiphase abdominopelvic computed tomography (CT), as well as analyse the possible patterns of coexisting supernumerary arteries in veins. Materials and methods: A retrospective analysis of abdominopelvic CT studies within 1 year period was performed. In each study, number of renal arteries and veins was recorded. Course of left renal vein was classified into normal, retro- or periaortic. For statistical analysis of normal distribution data, t-Student test was used. Chi-square test was used for frequency of variant vessel distribution. Pearson correlation coefficient was used for the analysis of coexistence of supernumerary vessels. Results: 996 patients were included in the analysis, male to female ratio: 481:515 (48%:52%). Mean age was 57.9 ± 14.7 years. Single renal arteries were observed in 73% of cases, while single renal veins in 95%. Circumaortic or retroaortic courses of left renal veins were observed in 10% of cases. Number of renal vessels has been compared in patients with and without supernumerary vessels. In patients with supernumerary left renal artery, significantly more right renal vessels were observed. In patients with supernumerary right renal vein, mean number of all remaining vessels was significantly higher. Conclusions: Supernumerary renal vessels are a frequent finding in abdominal CT studies. Finding a supernumerary vessel should increase awareness of possible other supernumerary renal vessels.

Arteria lusoria in patients with a normal and a right-sided aortic arch diagnosed with multi-slice computed tomography: a report of two cases

A retro-oesophageal course of the right subclavian artery is referred to as "arteria lusoria". It may be related to severe compression of the trachea and oesophagus, typically resulting in impaired swallowing. The paper presents two patients with arteria lusoria, which in one patient was an aberrant right subclavian artery and in the other an aberrant left subclavian artery, originating from the right-sided aortic arch. In both cases the diagnosis was made with multi-slice computed tomography. The embryology of the anomalies and clinical status of the patients is discussed. Arteria lusoria should be considered in differential diagnosis in patients with dyspnoea and dysphagia. Multi-slice computed tomography allows this anatomical variant to be reliably visualised