International Journal of Pediatrics and Adolescent Medicine最新文献

Introduction

Cystic fibrosis (CF) has been reported before in Saudi Arabia and the Gulf area. It has been found that screening for 10 most common cystic fibrosis transmembrane conductance regulator (CFTR) mutations can detect 80% of positive CFTR cases.

Objectives

To determine the geographic distribution of the most common CFTR variants in 5 regions of Saudi Arabia.

Methodology

A retrospective chart review of all CFTR variants conducted from January 1, 1992 to December 1, 2017.

Results

The ten most common CFTR mutations in the Saudi population were as follows: p.Gly473GlufsX54 (17%), p.Phe508del (12%), p.Ile1234Val (12%), 3120+1G > A (11%), 711+1G > T (9%), p.His139Leu (6%), p.Gln637Hisfs (5%), p.Ser549Arg (3%), p.N1303K (3%), and delExon19-21 (2%) along with other variants 79 (20%). In terms of the highest frequency, the c.2988+1G > A (3120+1G > A) variant was found in the eastern province (7.3%) of Saudi Arabia, the c.1418delG (p.Gly473GlufsX54) variant in the northern province (6.8%), the c.579+1G > T (711+1G > T) variant in the southern province (4.8%), the c.3700A > G (p.Ile1234Val) variant in the central province (4.8%), and c.1521_1523delCTT (p.Phe508del) variant in the western province (4.3%).

Conclusion

The eastern and the northern provinces have the highest prevalence of CF, with the c.2988+1G > A (3120+1G > A) and c.1418delG (p.Gly473GlufsX54) variants showing the highest distribution in the Saudi CF population, which may reflect the effect of consanguinity within the same tribe. Proper family screening and counseling should be emphasized.

Background

The classification and pathogenic basis of juvenile idiopathic arthritis (JIA) are a subject of some controversy. Essentially, JIA is an exclusion diagnosis that represents a phenotypically heterogeneous group of arthritis of unknown origin. Familial aggregation of JIA supports the concept of genetic influence in the pathogenesis of JIA.

Objective

To present the spectrum of laccase domain-containing 1 (LACC1)-associated juvenile arthritis with clinical, biochemical, and molecular genetic data of a cohort of 43 patients, including 11 previously unpublished cases.

Methods

We studied 11 patients with different categories of juvenile idiopathic arthritis from 5 consanguineous families, all from Saudi Arabia, except 2 patients who were of Jordanian ethnicity. Whole-exome sequencing was used to identify the disease-causing variant of LACC1. We also reviewed the clinical spectrum and molecular genetic data of previously published cases of LACC1-associated juvenile arthritis.

Results

This study describes 43 (29 females, 14 males) patients from consanguineous multiplex families. Most of the included patients were of Arab origin with 86% having early onset disease. The most frequent categories were systemic (19 patients) and rheumatoid factor-negative polyarticular (19 patients). Thirty-seven (86%) had progressive erosive arthritis and 10 (23.3%) had persistent limb lymphedema. None of the patients had features of macrophage activation syndrome. Genetic analysis confirmed LACC1 variant in all patients; 22 patients had common founder mutation (LACC1: c.850T > C,p.C284R), while the others showed different LACC1 variants. All patients were treated aggressively with methotrexate and sequential biologic agents. Most of them showed a poor response to treatment.

Conclusion

This report expands the pathogenic variants of LACC1 and the clinical spectrum associated with this genetic subset of juvenile arthritis. The predominance of autosomal-recessive inheritance and strong genetic evidence allowed us to propose LACC1-associated juvenile arthritis as a distinct disorder.

Valsalva maneuvers have the potential to cause dermal capillary rupture manifesting as purpura and petechiae. We present a unique case of Valsalva purpura occurring in a 12-year-old girl after blowing up multiple balloons at a birthday party. Obtaining a detailed history proved essential to the diagnosis and curtailed any unnecessary workup or concern.

Background

Neonatal hyperbilirubinemia is one of the common entities that lead to frequent hospital admission of newborn. There are many risk factors that, when present, can lead to increased chances of neonatal hyperbilirubinemia. It is essential to identify these risk factors that are involved in the increased incidence of neonatal hyperbilirubinemia because its incidence can be decreased by modifying them.

Objective

To compare and determine any correlation of 25-hydroxy vitamin D levels of newborn and their mothers with the serum bilirubin level of newborn.

Methodology

This was a case–control study conducted in a tertiary care hospital on 100 newborn who were divided into two groups (50 in each group) on the basis of their serum bilirubin level on the 5th day of life. Newborns having serum bilirubin levels in the physiological range were included in the control group, and newborns having serum bilirubin levels out of the physiological range and who needed treatment were included in the case group. The blood samples of both newborns and their mothers were collected on the 5th day and sent to the laboratory for serum bilirubin and 25-hydroxy vitamin D estimation.

Results

The mean serum vitamin D level of cases was found to be lower than that of controls in both newborn and their mothers. A statistically significant difference was noted only between the vitamin D level of newborn but not in mothers when cases and controls were compared. Negative, statistically insignificant correlation was seen between vitamin D level and serum bilirubin in cases and controls. However, correlation of the vitamin D level of cases and their serum bilirubin was statistically significant, with a correlation coefficient of −0.335 and a p value of 0.0172.

Conclusion

Term healthy newborn having hyperbilirubinemia, with serum bilirubin levels out of the physiological range, have significantly low vitamin D levels and show a statistically negatively correlation with neonatal hyperbilirubinemia (which is out of the physiological range). Thus, decreased vitamin D can be included in the list of risk factors for neonatal jaundice.

Background

Each year nearly 10,000 children with thalassaemia major are born in India, but among them, very few are optimally managed mainly in urban regions even though the Government of India has incorporated their care and treatment in the 12th Five-Year Plan. Data on prescribing patterns and drug-related problems (DRPs) in paediatric thalassaemia patients in India are limited.

Methods

In this prospective interventional study, the medications prescribed were recorded after reviewing the treatment charts, thalassaemia register, thalassaemia card, nurses’ notes, as well as discharge summaries. When DRPs and/or medication errors were identified, the same was discussed with the concerned health care professionals and suitable suggestions were made at the earliest.

Results

Out of the enrolled 54 patients, only 94% (n = 51) of the patients received iron chelation therapy with deferasirox and/or deferiprone, Folic acid tablet was prescribed for 100% of the patients (n = 54). Five percent of patients (n = 3) had undergone splenectomy and was prescribed with amoxicillin prophylactically. There were a total of 16 DRPs and 15 medication errors were identified and suitable measurements were taken to solve these problems.

Conclusions

The prescribing patterns, DRPs and medication errors in transfusion-dependent paediatric thalassaemia patients were discussed in this study. Our study was effective in identifying and solving the DRPs and medication problems that occurred in thalassaemia patients.

Recessive congenital methemoglobinemia (RCM) is a rare neurological disorder caused by a deficiency in NADH-CYB5R. RCM has two main types I&II, with cyanosis being the hallmark feature in both. Type-I is a mild form, with cyanosis being the only feature. While type-II is the severe form with prominent neurological symptoms including, dystonia and spasticity. However, the cyanosis is subtle and difficult to appreciate. The cyanosis in RCM is treated with ascorbic-acid or methylene-blue. However, those treatments will not alter the neurological complication. In this paper, we report two cases of RCM type-II in Saudi siblings. They presented with cyanosis at birth; a CO-oximetry was done showing a high level of methemoglobin and a trail of methylene blue was used. The siblings were followed up and showed signs of developmental delay, hypotonia, exaggerated reflex, and seizure. A genetic analysis was requested, which showed missense mutation (c.274 C > T), leading to amino acid substitution; p. Arg92Trp.

Full-term neonatal intussusception is rare. Cecal duplication as a lead point for intussusception is very rare. We report a case of full-term neonate with ileo-cecal intussusception due to cecal duplication. Although cecal duplication represents rarely a surgical emergency, intussusception always needs immediate attention. The awareness of this entity is essential for diagnosis and management.

Isoniazid (INH) is a first-line tuberculosis (TB) drug and is currently recommended as part of active and latent TB treatment in all ages. INH adverse reactions range from mild hepatitis to severe neurological symptoms and psychosis. Since its introduction in the 1950s, many case reports have explored INH-induced psychosis. We describe a 12-year-old girl with acute onset hallucinations and delusions as a rare complication of INH and review previous case reports and identified risk factors. Pediatricians need to be aware of this less common side effect as they work through a differential of acute psychosis in children.

Background and Objectives: Purpose

There are various causes and associated conditions in anomalous bands. Idiopathic congenital anomalous bands are extremely rare. The use of the term “congenital bands” may, in reality, not describe the same situation. The study aims to report our series of idiopathic anomalous bands and proposes an accurate and consistent classification of anomalous bands in order to clarify the origin of each band.

Methods

This study, conducted from January 2005 to January 2018, included all patients admitted to the emergency departments with a clinical diagnosis of intestinal obstruction resulting from bands that have no identifiable embryological or acquired basis called “idiopathic”. Recorded operative findings included the site of obstruction and the operative procedure to relieve it.

Results

The sample consists of seven boys and three girls with age range from one day to 9 years with symptoms and signs indicative of intestinal obstruction. Surgical intervention was performed, and intraoperative findings revealed a thick and vascularized idiopathic band, in different locations, which was responsible for intestinal obstruction in all patients. Clinical courses were uneventful in eight cases.

Conclusion

Idiopathic anomalous congenital bands causing intestinal obstruction are not frequently encountered in surgical practice and these bands are often difficult to classify and define. We believe that our new classification is a practical communication tool for medical professionals to summarize and clarify the different types of anomalous bands.