A Dual Gender Rare Case with 47,XY, + 18/46,XX Karyotype: Chimera or Mosaic?

Our objective is to report one rare case of dual gender chimerism involving abnormal male trisomy 18 and normal female karyotype. The baby was born full term with birth weight of 1.8 kg, not vigorous with light meconium stained liquor and Apgar score of 51, 85 and 910. Parents are 40 years old and mother is G6P5 + 1. The baby had clinical features of Edwards syndrome, and a blood sample was sent to Human Genome Centre, Universiti Sains Malaysia, Malaysia for cytogenetic analysis. Conventional cytogenetic analysis results showed two distinct sex discordant genetic cell lines XY and XX in 90:10 ratio. The male genetic cell line XY also showed trisomy 18 (47,XY, + 18) consistent with clinical diagnosis of male Edwards syndrome, whereas the second genetic cell line showed normal 46,XX female. The present case was reported as dual gender chimera with chi 47,XY, + 18/46,XX karyotype pattern. To the best of available knowledge, dual gender chimerism with abnormal male trisomy 18 and normal female karyotype has not been reported so far, and this case is reported for its rarity and as the first report.

Streptococcal Throat Carriage among Primary School Children Living in Uyo, Southern Nigeria

Surveillance of the carrier state for β-hemolytic streptococcal (BHS) throat infections remains essential for disease control. Recent published works from Sub-Saharan Africa have suggested a changing epidemiology in the burden of BHS throat infections. The objective of the present study was therefore to determine the prevalence and pattern of BHS throat carriage in school-aged children in Uyo, Akwa Ibom State. This was a prospective cross-sectional study of 276 primary school children in Uyo. Subjects were recruited by multistage random sampling. Obtained throat swabs were cultured on 5% sheep blood agar. Lancefield grouping on positive cultures was done by using the Oxoid Streptococcal Grouping Latex Agglutination Kit, United Kingdom. Antimicrobial susceptibility testing was done with the disk diffusion method. Associations were tested with Fischer's exact test. The prevalence of BHS carriage was 3.3%. Group C Streptococcus was identified in 89% of isolates and Group G Streptococcus in 11%. Younger age and larger household size were associated with asymptomatic streptococcal throat infections. Antimicrobial susceptibility was highest with cefuroxime and clindamycin (89% of isolates each), while 78% of isolates were susceptible to penicillin. None of the tested isolates was susceptible to co-trimoxazole. The prevalence of streptococcal throat carriage in the study area was low. There were no Group A Streptococcus isolates suggesting an evolving epidemiology of BHS disease in the study area.

Diagnostic Performance of Noninvasive Methods for Liver Biopsy by Fibroscan in Pediatric

Liver biopsy is the gold standard for the diagnosis and management of various liver diseases; however, noninvasive diagnostic modalities may help prevent adverse effects of anesthesia, prolonged hospitalization, sampling error, and other serious complications, particularly in pediatric patients. The aim of this study is to compare the results of liver biopsy and fibroscan in children with chronic liver diseases. All patients presenting chronic liver disease admitted in the ward or clinic of Tehran's Children Medical Center were enrolled in the study. Required laboratory tests were performed to diagnose the disease, followed by elastography using fibroscan 402 (M-probe) Echosens machine and liver biopsy using Menghini technique. Samples were scored by using METAVIR scoring system. Thirty-two patients were reported (68.8%, female) with autoimmune hepatitis (18.8%), Wilson disease (12.5%), and glycogen storage disease (12.5%). The most common pathologic stage and fibroscan result was stage III and F0 (46.9%), respectively. Association between pathology and fibroscan results was not significant. Nonetheless, age and diagnosis, age and Fibroscan score, and pathology and liver function test were significantly associated with each other. Fibroscan cannot be used as an alternative to liver biopsy; however, it can be a useful accessory tool.

Wilson Disease-Induced Acute Liver Failure (NWI = 13) Salvaged without Liver Transplant by Plasmapheresis

Wilson disease (WD) is a disorder of copper metabolism resulting in accumulation of copper in vital organs of the human body, predominantly in the liver and the brain. Acute liver failure in WD has a bad prognosis, especially with a score ≥11 in the revised WD prognostic index; emergency liver transplantation is considered the only life-saving option in this scenario. Here, we reported a girl patient with WD-induced liver failure and poor prognostic score who was rescued by plasmapheresis. She also manifested severe Coombs negative hemolytic anemia and acute kidney injury. This case report highlights the utility of an adjunctive modality besides liver transplantation for the management of fulminant liver failure caused by WD.

Lactoferrin Efficacy versus Ferrous Sulfate in Treatment of Children with Iron Deficiency Anemia

Lactoferrin (LF) is an iron-binding globular glycoprotein that is structurally and chemically similar to serum transferrin. Many studies have been done to evaluate the effect of oral LF administration on iron deficiency anemia (IDA) with controversial results. This study was designed to compare the efficacy of LF versus oral ferrous sulfate (OFS) therapy in the treatment of children with IDA. A significant increase in mean hemoglobin and serum iron concentrations was noted in the group that received oral bovine LF (11.06 ± 0.96 and 42.79 ± 6.14, respectively) versus the group that received OFS (10.24 ± 0.57 and 28.94 ± 5.05, respectively, with p < 0.001 for each) after 30 days of the treatment with fewer side effects (9.3 vs. 33.3% with p = 0.043). Oral bovine LF is a more effective and safer alternative in treating iron deficiency and IDA compared with OFS with clinical benefits of fewer side effects and better patient compliance.

Vitamin D Status in Children with Idiopathic Dilated Cardiomyopathy

Dilated cardiomyopathy (DCM) is the third leading cause of heart failure in pediatrics. The exact etiology of DCM is unknown in more than half of the cases. Vitamin D receptors are represented in cardiac muscles, endothelium, and smooth muscles of blood vessels suggesting that vitamin D could have a vital cardioprotective function. This study aimed to assess serum level of vitamin D in children with idiopathic DCM and to correlate the serum level of vitamin D with the left ventricular dimensions and function. This study is a descriptive cross-sectional single-center study, includes 44 children of both sexes, diagnosed as idiopathic DCM. Serum level of vitamin D was assessed and correlated with the left ventricular dimensions and function. Mean age of studied children was 6.08 ± 4.4 years. Vitamin D deficiency was found in 90.9% of children with idiopathic DCM with a mean level 13.48 ng/mL. There was a negative correlation between vitamin D level and fraction shortening and left ventricular end-diastolic diameter in children with DCM. Vitamin D level is not only significantly low in children with idiopathic DCM but it is also significantly correlated with the degree of left ventricular dysfunction.

Van Buchem Disease: First Case Report from the Indian Subcontinent with an Early Presentation

Van Buchem disease is a rare autosomal recessive genetic disorder that causes a compromised inhibitory feedback mechanism resulting in increased bone formation and overgrowth of the skeleton leading to a variety of neurological symptoms. It has been reported in less than 50 patients most of which were in western Europe. We report the first case of this condition from the Indian subcontinent with an early presentation. This patient presented with a global delay in attaining the developmental milestones and progressive reduction in visual acuity and loss of hearing. He had dysmorphic facies, multiple cranial nerve palsies, and severe visual and auditory deficits. Imaging revealed sclerosing bone dysplasia. This case illustrates the clinical and imaging findings of this rare condition.

Assessment of the Utility of Plusoptix A09 Handheld Photo-refractometer in Screening Refractory Errors and Amblyopia in Children

The aim of this study is to find out the frequency of anisometropic amblyopia in children and to increase awareness about this disease. All children between the ages of 4 and 10 years who were attending 11 kindergarten and primary schools determined by provincial directorate for national education in the center of Malatya were included. A screening team including interns and a resident from the Department of Pediatrics have used Plusoptix A09 handheld photo-refractometer device for detecting amblyopia and its reasons. A total of 7,000 students were screened. The mean age of the students was 7.4 ± 2 years. Amblyopia was suspected in 357 cases with the Plusoptix S09 screening. After eye examinations performed by an ophthalmologist, 303 cases were found to have pathologic eye examination. Amblyopia was found in 67 (18.8%) of the 303 cases, and anisometropic amblyopia was found in 59 of 67 cases. As a result of the screening, sensitivity of Plusoptix A09 was found to be 88.1%, while its specificity was found to be 88.6%. Its positive predictive value was found to be 64.0% and its negative predictive value was found to be 97.0%. We believe that with screenings performed by health professionals who are given short-term training by using a device that can conduct remote measurements, detection of anisometropic amblyopia, which is the most frequent reason for amblyopia, can be done in a fast and relatively less expensive way and with the minimum number of specialist physician required. This way, children with amblyopia can reach the ophthalmologist earlier for treatment.

Extended Cranial Ultrasound Views in Infants with Acute Brain Stem/Infratentorial Lesions: Diagnosis of a Progressive Midline Glioma in a 6-Week-Old Infant

Central nervous system (CNS) tumors are the most common solid tumors in children and adolescents. However, in neonates and children aged younger than a year, they are very rare. Clinical presentation in neonates is often subtle and nonspecific. When neurological symptoms are apparent at this age, cranial ultrasound (CUS) is often done as the initial evaluation, with a standard approach through the anterior fontanel (AF), followed by further imaging, such as magnetic resonance imaging (MRI), if necessary. We report the first neonatal case of a rapidly progressive diffuse midline glioma positive for histone H3 K27M mutation (World Health Organization [WHO] grade IV) in which using extended (transmastoid) CUS studies through the mastoid fontanelle (MF) in the second month of life defined the lesion in the brainstem.

Review of Development of Live Vaccines against Leishmaniasis

Leishmaniasis is a serious public health problem in both tropical and temperate regions, caused by protozoan parasites of the genus Leishmania. Cutaneous leishmaniasis is the most common form of leishmaniasis worldwide. After recovery from the initial infection in most of the patients, a long-lasting natural immunity will be established. In individuals with HIV infection or in immune deficient patients, the more dangerous forms can occur. Despite many attempts, there is no efficient vaccine for leishmaniasis. The main concern for live-attenuated vaccines is the possibility of returning to the virulent form. Therefore, the safety is an important point in designing a successful vaccine. Nonvirulent parasites as vaccine candidates are achievable through gamma-irradiation, long-term culture, random mutations induced by chemical agents, and temperature-sensitive mutations. The type of change(s) in such parasites is not known well and drawbacks such as reversion to virulent forms was soon realized. Leishmania tarentolae with capacity of adaptation to mammalian system has a potential to be used as nonpathogenic vector in vaccine programs. Due to its nonpathogenic intrinsic property, it does not have the ability to replace with the pathogen form. Moreover, the main problems are associated with the production of live vaccines, including lyophilization, storage, standards, and quality control that must be considered. In this review, we focused on the importance of different approaches concerning the development of a live vaccine against leishmaniasis.